Volume 25

Neuromuscular Disorders

Volume 25

1

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family

Baranello, Giovanni, Saredi, Simona, Sansanelli, Serena, Savadori, Paolo, Canioni, Eleonora, Chiapparini, Luisa, Balestri, Paolo, Malandrini, Alessandro, Arnoldi, Maria Teresa, Pantaleoni, Chiara, Mor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.16 MB

english, 2015

2

European Medicines Agency review of ataluren for the treatment of ambulant patients aged 5 years and older with Duchenne muscular dystrophy resulting from a nonsense mutation in the dystrophin gene

Haas, Manuel, Vlcek, Viktor, Balabanov, Pavel, Salmonson, Tomas, Bakchine, Serge, Markey, Greg, Weise, Martina, Schlosser-Weber, Gabriele, Brohmann, Henning, Yerro, Concepcion Prieto, Mendizabal, Maca

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 985 KB

english, 2015

3

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy

Lynn, Stephen, Aartsma-Rus, Annemieke, Bushby, Kate, Furlong, Pat, Goemans, Nathalie, De Luca, Annamaria, Mayhew, Anna, McDonald, Craig, Mercuri, Eugenio, Muntoni, Francesco, Pohlschmidt, Marita, Vers

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

4

Results of a two-year pilot study of clinical outcome measures in collagen VI- and laminin alpha2-related congenital muscular dystrophies

Meilleur, Katherine G., Jain, Minal S., Hynan, Linda S., Shieh, Ching-Yi, Kim, Eunice, Waite, Melissa, McGuire, Michelle, Fiorini, Courtney, Glanzman, Allan M., Main, Marion, Rose, Kristy, Duong, Tina

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 436 KB

english, 2015

5

Commentary from the Editor

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 349 KB

english, 2015

6

Efficacy of intravenous immunoglobulin for treatment of Lambert–Eaton myasthenic syndrome without anti-presynaptic P/Q-type voltage-gated calcium channel antibodies: A case report

Okada, Akinori, Koike, Haruki, Nakamura, Tomohiko, Motomura, Masakatu, Sobue, Gen

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 474 KB

english, 2015

7

Becoming a back-up carer: Parenting sons with Duchenne muscular dystrophy transitioning into adulthood

Yamaguchi, Miku, Suzuki, Machiko

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 587 KB

english, 2015

8

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

De Sanctis, Roberto, Pane, Marika, Sivo, Serena, Ricotti, Valeria, Baranello, Giovanni, Frosini, Silvia, Mazzone, Elena, Bianco, Flaviana, Fanelli, Lavinia, Main, Marion, Corlatti, Alice, D'Amico, Ade

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 851 KB

english, 2015

9

Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits

Azuma, Yoshiteru, Nakata, Tomohiko, Tanaka, Motoki, Shen, Xin-Ming, Ito, Mikako, Iwata, Satoshi, Okuno, Tatsuya, Nomura, Yoshiko, Ando, Naoki, Ishigaki, Keiko, Ohkawara, Bisei, Masuda, Akio, Natsume,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.65 MB

english, 2015

10

Book review

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 281 KB

english, 2015

11

Implantation of a left ventricular assist device as a destination therapy in Duchenne muscular dystrophy patients with end stage cardiac failure: Management and lessons learned

Iodice, Francesca, Testa, Giuseppina, Averardi, Marco, Brancaccio, Gianluca, Amodeo, Antonio, Cogo, Paola

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 645 KB

english, 2015

12

Internalized capillaries in skeletal muscle biopsy

Hawlik, Andreas, Wassner, Anette, Ludolph, Albert C., Lewerenz, Jan, Rosenbohm, Angela

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 937 KB

english, 2015

13

A new monoclonal antibody DAG-6F4 against human alpha-dystroglycan reveals reduced core protein in some, but not all, dystroglycanopathy patients

Humphrey, Emma L., Lacey, Erica, Le, Lam T., Feng, Lucy, Sciandra, Francesca, Morris, Charlotte R., Hewitt, Jane E., Holt, Ian, Brancaccio, Andrea, Barresi, Rita, Sewry, Caroline A., Brown, Susan C.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.16 MB

english, 2015

14

Myotonic discharges discriminate chloride from sodium muscle channelopathies

Drost, Gea, Stunnenberg, Bas C., Trip, Jeroen, Borm, George, McGill, Kevin C., Ginjaar, Ieke H.B., van der Kooi, Arendina W., Zwarts, Machiel J., van Engelen, Baziel G.M., Faber, Catharina G., Stegema

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 726 KB

english, 2015

15

Assessment of ventricular function in mouse models of muscular dystrophy: A comparison of MRI with conductance catheter

Blain, Alison M., Greally, Elizabeth, Laval, Steven H., Blamire, Andrew M., MacGowan, Guy A., Straub, Volker W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.25 MB

english, 2015

16

Book review

Scott, Kirsten M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 282 KB

english, 2015

17

Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

Pinto, Wladimir Bocca Vieira de Rezende, Oliveira, Acary Souza Bulle, Souza, Paulo Victor Sgobbi de

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 514 KB

english, 2015

18

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis

Meyer, Alain, Lannes, Béatrice, Carapito, Raphaël, Bahram, Seiamak, Echaniz-Laguna, Andoni, Geny, Bernard, Sibilia, Jean, Gottenberg, Jacques Eric

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.41 MB

english, 2015

19

Investigating sodium valproate as a treatment for McArdle disease in sheep

Howell, J.McC., Dunton, E., Creed, K.E., Quinlivan, R., Sewry, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 516 KB

english, 2015

20

Muscle force, balance and falls in muscular impaired individuals with myotonic dystrophy type 1: A five-year prospective cohort study

Hammarén, Elisabet, Kjellby-Wendt, Gunilla, Lindberg, Christopher

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 732 KB

english, 2015

21

204th ENMC International Workshop on Biomarkers in Duchenne Muscular Dystrophy 24–26 January 2014, Naarden, The Netherlands

Ferlini, Alessandra, Flanigan, Kevin M., Lochmuller, Hanns, Muntoni, Francesco, ‘t Hoen, Peter A.C., McNally, Elizabeth

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 604 KB

english, 2015

22

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Morris, Glenn E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 342 KB

english, 2015

23

New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

Yue, Dongyue, Gao, Mingshi, Zhu, Wenhua, Luo, Sushan, Xi, Jianying, Wang, Bei, Li, Ying, Cai, Shuang, Li, Jin, Wang, Yin, Lu, Jiahong, Zhao, Chongbo

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.29 MB

english, 2015

24

Inclusion body myositis and sarcoid myopathy: Coincidental occurrence or associated diseases

Sanmaneechai, Oranee, Swenson, Andrea, Gerke, Alicia K., Moore, Steven A., Shy, Michael E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.74 MB

english, 2015

25

Left ventricular non-compaction cardiomyopathy associated with epidermolysis bullosa simplex with muscular dystrophy and PLEC1 mutation

Villa, Chet R., Ryan, Thomas D., Collins, James J., Taylor, Michael D., Lucky, Anne W., Jefferies, John L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 681 KB

english, 2015

26

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

Guo, Yiran, Menezes, Minal J., Menezes, Manoj P., Liang, Jinlong, Li, Dong, Riley, Lisa G., Clarke, Nigel F., Andrews, P. Ian, Tian, Lifeng, Webster, Richard, Wang, Fengxiang, Liu, Xuanzhu, Shen, Yula

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 848 KB

english, 2015

27

A novel GBE1 mutation and features of polyglucosan bodies autophagy in Adult Polyglucosan Body Disease

Sampaolo, Simone, Esposito, Teresa, Gianfrancesco, Fernando, Napolitano, Filomena, Lombardi, Luca, Lucà, Roberta, Roperto, Franco, Di Iorio, Giuseppe

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

28

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 72 KB

english, 2015

29

Clinical and electrophysiological features in a French family presenting with seipinopathy

Ollivier, Yolaine, Magot, Armelle, Latour, Philippe, Perrier, Julie, Mercier, Sandra, Maisonobe, Thierry, Péréon, Yann

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 763 KB

english, 2015

30

Muscle ultrasound in classic infantile and adult Pompe disease: A useful screening tool in adults but not in infants

Vill, K., Schessl, J., Teusch, V., Schroeder, S., Blaschek, A., Schoser, B., Müller-Felber, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

31

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

Surampalli, Abhilasha, Gold, Brian T., Smith, Charles, Castellani, Rudy J., Khare, Manaswitha, Yu, Hon, Nguyen, Celeste, Lan, Mary, Wencel, Marie, Wigal, Sharon, Caiozzo, Vince, Kimonis, Virginia

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.67 MB

english, 2015

32

Isolated laryngeal myasthenia gravis for 26 years

Renard, Dimitri, Hedayat, Amir, Gagnard, Corinne

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 351 KB

english, 2015

33

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy

McCann, Beverly Jo, Tuppen, Helen A.L., Küsters, Benno, Lammens, Martin, Smeitink, Jan A.M., Taylor, Robert W., Rodenburg, Richard J., Wortmann, Saskia B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.34 MB

english, 2015

34

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family

Lefter, Stela, Hardiman, Orla, McLaughlin, Russell L., Murphy, Sinead M., Farrell, Michael, Ryan, Aisling M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.87 MB

english, 2015

35

RYR1-related malignant hyperthermia with marked cerebellar involvement – A paradigm of heat-induced CNS injury?

Forrest, Katharine M.L., Foulds, Nicola, Millar, John S., Sutherland, Paul D., Pappachan, V. John, Holden, Samantha, Mein, Rachael, Hopkins, Philip M., Jungbluth, Heinz

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 607 KB

english, 2015

36

Growing up with spinal muscular atrophy with respiratory distress (SMARD1)

Hamilton, Mark James, Longman, Cheryl, O'Hara, Ann, Kirkpatrick, Martin, McWilliam, Robert

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 570 KB

english, 2015

37

Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery–Dreifuss muscular dystrophy

Meinke, Peter, Schneiderat, Peter, Srsen, Vlastimil, Korfali, Nadia, Lê Thành, Phú, Cowan, Graeme J.M., Cavanagh, David R., Wehnert, Manfred, Schirmer, Eric C., Walter, Maggie C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.65 MB

english, 2015

38

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy

Yüceyar, Nur, Ayhan, Özgecan, Karasoy, Hatice, Tolun, Aslıhan

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 351 KB

english, 2015

39

Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy

Ruggieri, A., Ramachandran, N., Wang, P., Haan, E., Kneebone, C., Manavis, J., Morandi, L., Moroni, I., Blumbergs, P., Mora, M., Minassian, B.A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.61 MB

english, 2015

40

SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype

Bugiardini, E., Rivolta, I., Binda, A., Soriano Caminero, A., Cirillo, F., Cinti, A., Giovannoni, R., Botta, A., Cardani, R., Wicklund, M.P., Meola, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.48 MB

english, 2015

41

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Barresi, Rita, Morris, Charlotte, Hudson, Judith, Curtis, Elizabeth, Pickthall, Clare, Bushby, Kate, Davies, Nicholas P., Straub, Volker

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

42

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy

Remiche, Gauthier, Kadhim, Hazim, Abramowicz, Marc, Mavroudakis, Nicolas, Monnier, Nicole, Lunardi, Joël

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

43

Upper limb module in non-ambulant patients with spinal muscular atrophy: 12 month changes

Sivo, Serena, Mazzone, Elena, Antonaci, Laura, De Sanctis, Roberto, Fanelli, Lavinia, Palermo, Concetta, Montes, Jacqueline, Pane, Marika, Mercuri, Eugenio

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 712 KB

english, 2015

44

Myositis with endomysial cell invasion indicates inclusion body myositis even if other criteria are not fulfilled

van de Vlekkert, J., Hoogendijk, J.E., de Visser, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 707 KB

english, 2015

45

Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy, a muscle magnetic resonance imaging study

Li, Wenzhu, Zheng, Yiming, Zhang, Wei, Wang, Zhaoxia, Xiao, Jiangxi, Yuan, Yun

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 781 KB

english, 2015

46

A normal life without muscle dystrophin

Zatz, M., Vieira, N.M., Zucconi, E., Pelatti, M., Gomes, J., Vainzof, M., Martins-Bach, A.B., Garcia Otaduy, M.C., Bento dos Santos, G., Amaro, E., Landini, V., Andrade, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

47

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

Savarese, Marco, Di Fruscio, Giuseppina, Tasca, Giorgio, Ruggiero, Lucia, Janssens, Sandra, De Bleecker, Jan, Delpech, Marc, Musumeci, Olimpia, Toscano, Antonio, Angelini, Corrado, Sacconi, Sabrina, S

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.50 MB

english, 2015

48

Clinical, neuropathological and radiological evidence for a rare complication of rituximab therapy

Healy, E.G., Phadke, R., Kidd, M., Reilly, M.M., Lunn, M.P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 643 KB

english, 2015

49

Change in physical mobility over 10 years in post-polio syndrome

Bickerstaffe, A., Beelen, A., Nollet, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

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PDF, 669 KB

english, 2015

50

Invited Speakers

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

51

Motor unit loss estimation by the multipoint incremental MUNE method in children with spinal muscular atrophy – A preliminary study

Gawel, Malgorzata, Kostera-Pruszczyk, Anna, Lusakowska, Anna, Jedrzejowska, Maria, Ryniewicz, Barbara, Lipowska, Marta, Gawel, Damian, Kaminska, Anna

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 893 KB

english, 2015

52

A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres

Casar-Borota, Olivera, Jacobsson, Johan, Libelius, Rolf, Oldfors, Carola Hedberg, Malfatti, Edoardo, Romero, Norma Beatriz, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.79 MB

english, 2015

53

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Castro-Gago, Manuel

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 313 KB

english, 2015

54

Autophagic vacuolar pathology in desminopathies

Weihl, Conrad C., Iyadurai, Stanley, Baloh, Robert H., Pittman, Sara K., Schmidt, Robert E., Lopate, Glenn, Pestronk, Alan, Harms, Matthew B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.43 MB

english, 2015

55

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

Scuderi, Carmela, Borgione, Eugenia, Castello, Filippa, Lo Giudice, Mariangela, Santa Paola, Sandro, Giambirtone, Mariaconcetta, Di Blasi, Francesco Domenico, Elia, Maurizio, Amato, Carmelo, Città, Sa

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 698 KB

english, 2015

56

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis

Weihl, Conrad C., Baloh, Robert H., Lee, Youjin, Chou, Tsui-Fen, Pittman, Sara K., Lopate, Glenn, Allred, Peggy, Jockel-Balsarotti, Jennifer, Pestronk, Alan, Harms, Matthew B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 957 KB

english, 2015

57

Posters and Platform Presentations

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.44 MB

english, 2015

58

19th World Muscle Society Congress, Berlin 2014 A City of Cranes and Dinosaurs

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 5.36 MB

english, 2015

59

Mitochondrial pathology in inclusion body myositis

Lindgren, Ulrika, Roos, Sara, Hedberg Oldfors, Carola, Moslemi, Ali-Reza, Lindberg, Christopher, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.86 MB

english, 2015

60

Phenotypic variability of TRPV4 related neuropathies

Evangelista, Teresinha, Bansagi, Boglarka, Pyle, Angela, Griffin, Helen, Douroudis, Konstantinos, Polvikoski, Tuomo, Antoniadi, Thalia, Bushby, Kate, Straub, Volker, Chinnery, Patrick F., Lochmüller,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

61

203rd ENMC international workshop: Respiratory pathophysiology in congenital muscle disorders: Implications for pro-active care and clinical research 13–15 December, 2013, Naarden, The Netherlands

Rutkowski, A., Chatwin, M., Koumbourlis, A., Fauroux, B., Simonds, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

62

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

van den Bergen, J.C., Wokke, B.H.A., Hulsker, M.A., Verschuuren, J.J.G.M., Aartsma-Rus, A.M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 886 KB

english, 2015

63

Author Index

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 188 KB

english, 2015

64

Congenital Myasthenic Syndrome caused by mutations in DPAGT

Klein, Andrea, Robb, Stephanie, Rushing, Elisabeth, Liu, Wei-Wei, Belaya, Kasiaryna, Beeson, David

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

65

Response

Menezes, Manoj P., Waddell, Leigh, Lenk, Guy M., Kaur, Simranpreet, MacArthur, Daniel G., Meisler, Miriam H., Clarke, Nigel F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 71 KB

english, 2015

66

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Kraeva, N., Heytens, L., Jungbluth, H., Treves, S., Voermans, N., Kamsteeg, E., Ceuterick-de Groote, C., Baets, J., Riazi, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 834 KB

english, 2015

67

Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype

Vieira, Natassia M., Guo, Ling T., Estrela, Elicia, Kunkel, Louis M., Zatz, Mayana, Shelton, G. Diane

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.23 MB

english, 2015

68

Dystroglycanopathy muscles lacking functional glycosylation of alpha-dystroglycan retain regeneration capacity

Awano, Hiroyuki, Blaeser, Anthony, Wu, Bo, Lu, Pei, Keramaris-Vrantsis, Elizabeth, Lu, Qi

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.33 MB

english, 2015

69

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

Tasca, Giorgio, D'Amico, Adele, Verardo, Margherita, Villani, Alberto, Siani, Paolo, De Brasi, Daniele, Bertini, Enrico, Boldrini, Renata

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 543 KB

english, 2015

70

Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort

Gutiérrez-Rivas, E., Bautista, J., Vílchez, J.J., Muelas, N., Díaz-Manera, J., Illa, I., Martínez-Arroyo, A., Olivé, M., Sanz, I., Arpa, J., Fernández-Torrón, R., López de Munáin, A., Jiménez, L., Sol

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 364 KB

english, 2015

71

A missense mutation in domain III in HSPG2 in Schwartz–Jampel syndrome compromises secretion of perlecan into the extracellular space

Iwata, Satoshi, Ito, Mikako, Nakata, Tomohiko, Noguchi, Yoichiro, Okuno, Tatsuya, Ohkawara, Bisei, Masuda, Akio, Goto, Tomohide, Adachi, Masanori, Osaka, Hitoshi, Nonaka, Risa, Arikawa-Hirasawa, Eri,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 702 KB

english, 2015

72

Treatment of myasthenia gravis with dropped head: A report of 2 cases and review of the literature

Tamai, Michihiro, Hashimoto, Takao, Isobe, Takashi, Sato, Hiromasa, Doden, Tadashi, Nakano, Takeshi

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 598 KB

english, 2015

73

Transthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy

Carr, A.S., Pelayo-Negro, A.L., Jaunmuktane, Z., Scalco, R.S., Hutt, D., Evans, M.R.B., Heally, E., Brandner, S., Holton, J., Blake, J., Whelan, C.J., Wechalekar, A.D., Gillmore, J.D., Hawkins, P.N.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

74

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

Shin, Ha Young, Jang, Hoon, Han, Joo Hyung, Park, Hyung Jun, Lee, Jung Hwan, Kim, So Won, Kim, Seung Min, Park, Young-Eun, Kim, Dae-Seong, Bang, Duhee, Lee, Min Goo, Lee, Ji Hyun, Choi, Young-Chul

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 904 KB

english, 2015

75

Response to: Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

van den Bergen, Janneke, Aartsma-Rus, Annemieke

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

76

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing

Dai, Yi, Wei, Xiaoming, Zhao, Yanhuan, Ren, Haitao, Lan, Zhangzhang, Yang, Yun, Chen, Lin, Cui, Liying

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 792 KB

english, 2015

77

Dystrophin and Duchenne dystrophy

Dubowitz, Victor, Cohn, Ronald D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 357 KB

english, 2015

78

Respiratory muscle dysfunction in facioscapulohumeral muscular dystrophy

Santos, Dante Brasil, Boussaid, Ghilas, Stojkovic, Tanya, Orlikowski, David, Letilly, Nadege, Behin, Anthony, Butel, Sandrine, Lofaso, Frédéric, Prigent, Hélène

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 480 KB

english, 2015

79

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Jędrzejowska, Maria, Jakubowska-Pietkiewicz, Elżbieta, Kostera-Pruszczyk, Anna

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.28 MB

english, 2015

80

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7–9 November 2014, Heemskerk, The Netherlands

Finkel, Richard, Bertini, Enrico, Muntoni, Francesco, Mercuri, Eugenio

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 911 KB

english, 2015

81

Abnormal sodium current properties contribute to cardiac electrical and contractile dysfunction in a mouse model of myotonic dystrophy type 1

Algalarrondo, Vincent, Wahbi, Karim, Sebag, Frédéric, Gourdon, Geneviève, Beldjord, Chérif, Azibi, Kamel, Balse, Elise, Coulombe, Alain, Fischmeister, Rodolphe, Eymard, Bruno, Duboc, Denis, Hatem, Sté

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1017 KB

english, 2015

82

Surgical treatment of obesity in DM1 – a case report and a review of the literature

Håkansson, K., Kostic, S., Lindberg, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 429 KB

english, 2015

83

Myasthenia gravis with presynaptic neurophysiological signs: Two case reports and literature review

Alboini, Paolo Emilio, Damato, Valentina, Iorio, Raffaele, Luigetti, Marco, Evoli, Amelia

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 571 KB

english, 2015

84

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

De Bleecker, Jan L., De Paepe, Boel, Aronica, Eleonora, de Visser, Marianne, Amato, Anthony, Aronica, Eleonora, Benveniste, Olivier, De Bleecker, Jan, de Boer, Onno, De Paepe, Boel, de Visser, Mariann

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

85

Selective response to rituximab in a young child with MuSK-associated myasthenia gravis

Govindarajan, Raghav, Iyadurai, Stanley J., Connolly, Anne, Zaidman, Craig

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 310 KB

english, 2015

86

Dystrophinopathy mimicking metabolic myopathies

Liewluck, Teerin, Tian, Xia, Wong, Lee-Jun, Pestronk, Alan

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.92 MB

english, 2015

87

Disease course and therapeutic approach in dermatomyositis: A four-center retrospective study of 100 patients

Johnson, Nicholas E., Arnold, W. David, Hebert, Donald, Gwathmey, Kelly, Dimachkie, Mazen M., Barohn, Richard J., McVey, April L., Pasnoor, Mamatha, Amato, Anthony A., McDermott, Michael P., Kissel, J

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

88

Skin features in myotonic dystrophy type 1: An observational study

Campanati, A., Giannoni, M., Buratti, L., Cagnetti, C., Giuliodori, K., Ganzetti, G., Silvestrini, M., Provinciali, L., Offidani, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

89

207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: Management and implications for research, 27–29 June 2014, Naarden, The Netherlands

Sansone, V.A., Gagnon, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 544 KB

english, 2015

90

A sporadic case of late-onset familial amyloid polyneuropathy with a monoclonal gammopathy

Correia, Ana Sofia, Mendonça, Marcelo, Caetano, André, Medeiros, Elmira

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 779 KB

english, 2015

91

Severe congenital actin related myopathy with myofibrillar myopathy features

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.67 MB

english, 2015

92

Early onset cardiomyopathy in females with Danon disease

Hedberg Oldfors, Carola, Máthé, Gyöngyvér, Thomson, Kate, Tulinius, Mar, Karason, Kristjan, Östman-Smith, Ingegerd, Oldfors, Anders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 6.19 MB

english, 2015

93

A functional scale for spinal and bulbar muscular atrophy: Cross-sectional and longitudinal study

Hashizume, Atsushi, Katsuno, Masahisa, Suzuki, Keisuke, Banno, Haruhiko, Suga, Noriaki, Mano, Tomoo, Araki, Amane, Hijikata, Yasuhiro, Grunseich, Christopher, Kokkinis, Angela, Hirakawa, Akihiro, Wata

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 702 KB

english, 2015

94

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 333 KB

english, 2015

95

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease

Crescimanno, G., Modica, R., Lo Mauro, R., Musumeci, O., Toscano, A., Marrone, O.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 430 KB

english, 2015

96

Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies

Jaeger, Bregje, de Visser, Marianne, Aronica, Eleonora, van der Kooi, Anneke J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

97

SIL1-related Marinesco–Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

Byrne, Susan, Dlamini, Nomazulu, Lumsden, Daniel, Pitt, Matthew, Zaharieva, Irina, Muntoni, Francesco, King, Andrew, Robert, Leema, Jungbluth, Heinz

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 870 KB

english, 2015

98

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

Walter, Maggie C., Rossius, Martina, Zitzelsberger, Manuela, Vorgerd, Matthias, Müller-Felber, Wolfgang, Ertl-Wagner, Birgit, Zhang, Yaxin, Brinkmeier, Heinrich, Senderek, Jan, Schoser, Benedikt

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.13 MB

english, 2015

99

208th ENMC International Workshop: Formation of a European Network to develop a European data sharing model and treatment guidelines for Pompe disease Naarden, The Netherlands, 26–28 September 2014

Schoser, Benedikt, Laforêt, Pascal, Kruijshaar, Michelle E., Toscano, Antonio, van Doorn, Pieter A., van der Ploeg, Ans T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 417 KB

english, 2015

100

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 63 KB

english, 2015

101

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

102

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

103

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

104

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

105

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

106

Title Page

Journal:

Neuromuscular Disorders

Year:

2015

File:

PDF, 374 KB

2015

107

Copyright

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 35 KB

english, 2015

108

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 52 KB

english, 2015

109

A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease

Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R., Baty, Karen, Blakely, Emma L., Zierz, Stephan, Taylor, Robert W., Deschauer, Marcus

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.06 MB

english, 2015

110

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

Wang, Heng, Wu, Shiwen

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 307 KB

english, 2015

111

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1

Giráldez, Beatriz G., Guerrero-López, Rosa, Ortega-Moreno, Laura, Verdú, Alfonso, Carrascosa-Romero, M. Carmen, García-Campos, Óscar, García-Muñozguren, Susana, Pardal-Fernández, José Manuel, Serratos

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 412 KB

english, 2015

112

Yukio Fukuyama, MD (1928–2014)

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 450 KB

english, 2015

113

Hip flexion weakness is associated with impaired mobility in oculopharyngeal muscular dystrophy: A retrospective study with implications for trial design

Youssof, Sarah, Schrader, Ronald, Bear, David, Morrison, Leslie

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 531 KB

english, 2015

114

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Case, Laura E., Bjartmar, Carl, Morgan, Claire, Casey, Robin, Charrow, Joel, Clancy, John P., Dasouki, Majed, DeArmey, Stephanie, Nedd, Khan, Nevins, Mary, Peters, Heidi, Phillips, Dawn, Spigelman, Za

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 470 KB

english, 2015

115

Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013

Gagnon, Cynthia, Meola, Giovanni, Hébert, Luc J., Laberge, Luc, Leone, Mario, Heatwole, Chad

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 488 KB

english, 2015

116

BAG3 myofibrillar myopathy presenting with cardiomyopathy

Konersman, Chamindra G., Bordini, Brett J., Scharer, Gunter, Lawlor, Michael W., Zangwill, Steven, Southern, James F., Amos, Louella, Geddes, Gabrielle C., Kliegman, Robert, Collins, Michael P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.14 MB

english, 2015

117

Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

Zocevic, Aleksandar, Rouillon, Jeremy, Wong, Brenda, Servais, Laurent, Voit, Thomas, Svinartchouk, Fedor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 375 KB

english, 2015

118

A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human

Bourgeois, F., Messéant, J., Kordeli, E., Petit, J.M., Delers, P., Bahi-Buisson, N., Bernard, V., Sigoillot, S.M., Gitiaux, C., Stouffer, M., Francis, F., Legay, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.87 MB

english, 2015

119

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1)

Sewry, C.A., Holton, J.L., Dick, D.J., Muntoni, F., Hanna, M.G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.74 MB

english, 2015

120

PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction

Finsterer, Josef, Stöllberger, Claudia

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 111 KB

english, 2015

121

Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: Evidence for a dysregulation at central level

Poussel, Mathias, Thil, Catherine, Kaminsky, Pierre, Mercy, Magalie, Gomez, Emmanuel, Chaouat, Ari, Chabot, François, Chenuel, Bruno

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 482 KB

english, 2015

122

Response to: PLEC1 mutation associated with left ventricular hypertrabeculation/noncompaction

Villa, Chet R., Ryan, Thomas D., Taylor, Michael D., Jefferies, John L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 73 KB

english, 2015

123

Response to: Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 93 KB

english, 2015

124

Response to: Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy

Spitali, Pietro, Aartsma-Rus, Annemieke, 't Hoen, Peter A.C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 116 KB

english, 2015

125

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

Gorman, Gráinne S., Elson, Joanna L., Newman, Jane, Payne, Brendan, McFarland, Robert, Newton, Julia L., Turnbull, Douglass M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

126

No cardiomyopathy in X-linked myopathy with excessive autophagy

Saraste, Antti, Koskenvuo, Juha W., Airaksinen, Juhani, Ramachandran, Nivetha, Munteanu, Iulia, Udd, Bjarne, Huovinen, Sanna, Kalimo, Hannu, Minassian, Berge A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

127

Assessing upper extremity capacity as a potential indicator of needs related to household activities for rehabilitation services in people with myotonic dystrophy type 1

Raymond, Kateri, Auger, Louis-Pierre, Cormier, Marie-France, Vachon, Christine, St-Onge, Sabrina, Mathieu, Jean, Noreau, Luc, Gagnon, Cynthia

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

128

Combined cell and gene therapy to treat merosin deficient congenital muscular dystrophy

Velardo, D., Domi, T., Porrello, E., Capotondo, A., Biffi, A., Tonlorenzi, R., Takeda, S., Amadio, S., Ruegg, M., Previtali, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

129

Gene therapy via trans-splicing for LMNA-related congenital muscular dystrophy (L-CMD)

Azibani, F., Arandel, L., Beuvin, M., Jollet, A., Prudhon, B., Lorain, S., Bertrand, A., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

130

Eteplirsen, a Phosphorodiamidate morpholino oligomer (PMO) for the treatment of Duchenne muscular dystrophy (DMD): Clinical update

Kaye, E., Mendell, J., Rodino-Klapac, L., Sahenk, Z., Lowes, L., Alfano, L., Berry, K., Gomez Ramirez, A., Lewis, S., Flanigan, K., Cripe, L., Al-Zaidy, S., Duda, P., Sazani, P., Saoud, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

131

The relation between visual-motor control and upper-limb speed and dexterity in Duchenne muscular dystrophy

Karayazgan, S., Subası, S., Bulut, N., Yılmaz, O., Karaduman, A., Akel, B., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

132

Effects of a program based on home exercise on muscle force and functional independence in patients with amyotrophic lateral sclerosis: A 2-year follow-up study

Piemonte, M., Ramirez, C., Voos, M., Oliveira, T., Miranda, C., Silva, H., Callegaro, D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

133

Spinal and bulbar muscular atrophy and Charcot–Marie–Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient

Sagnelli, Anna, Scaioli, Vidmer, Piscosquito, Giuseppe, Salsano, Ettore, Dalla Bella, Eleonora, Gellera, Cinzia, Pareyson, Davide

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 363 KB

english, 2015

134

Perifascicular pathology in eosinophilic fasciitis with muscle involvement

Pehl, D., Preusse, C., Rinnenthal, J., Schneider, U., Heppner, F., Allenbach, Y., Benveniste, O., Goebel, H., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

135

Contribution of myopathological analysis to myositis classification in a multidisciplinary approach

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

136

Three Turkish families with different transthyretin mutations

Bekircan-Kurt, Can Ebru, Güneş, Nalan, Yılmaz, Arda, Erdem-Özdamar, Sevim, Tan, Ersin

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.17 MB

english, 2015

137

Fasciitis frequently accompanies myopathy in acute critical illness muscle wasting: Evidence from qualitative ultrasound and muscle biopsy analysis

Phadke, R., Puthucheary, Z., Rawal, J., McPhail, M., Sidhu, P., Rowlerson, A., Moxham, J., Harridge, S., Hart, N., Montgomery, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

138

Whole body muscle MRI correlates with muscle function in patients with adult onset Pompe disease

Díaz-Manera, J., Segovia, S., Llauger, J., Belmonte, I., Suárez-Cuartin, G., Mayos, M., Alejaldre, A., Figueroa-Bonaparte, S., Pedrosa, I., Querol, L., Rojas-García, R., Gallardo, E., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

139

Intracranial arterial abnormalities in patients with late onset Pompe disease

Toscano, A., Montagnese, F., Granata, F., Rodolico, C., Mondello, S., Cucinotta, M., Ciranni, A., Longo, M., Musumeci, O.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

140

Muscle MRI in sarcoglycanopathies

Tasca, G., Monforte, M., Brisca, G., D'Amico, A., Al Shaik, N., Berardinelli, A., Løkken, N., Maggi, L., Morandi, L., Voermans, N., Munell, F., Sanchez, A., Dastgir, J., Bertini, E., Bruno, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

141

Clinical, pathology and imaging heterogeneity in autosomal recessive RYR1-related myopathy

Tasca, G., Fattori, F., Cassandrini, D., Catteruccia, M., Verardo, M., Vasco, G., Monforte, M., Ricci, E., Bertini, E., D'Amico, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

142

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease

Brennan, Kathryn M., Bai, Yunhong, Pisciotta, Chiara, Wang, Suola, Feely, Shawna M.E., Hoegger, Mark, Gutmann, Laurie, Moore, Steven A., Gonzalez, Michael, Sherman, Diane L., Brophy, Peter J., Züchner

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.22 MB

english, 2015

143

Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case

Dorotea, Tiziano, Grünberg, Walter, Murgiano, Leonardo, Plattet, Philippe, Drögemüller, Cord, Mascarello, Francesco, Sacchetto, Roberta

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 4.80 MB

english, 2015

144

Molecular regulation of muscle stem cell asymmetric division

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

145

20th WMS Congress – 2015 – Program (Summary)

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 291 KB

english, 2015

146

Exercise and mitochondrial function in health and disease

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 448 KB

english, 2015

147

Genetic modifiers of muscle: Studies of college students and Duchenne muscular dystrophy

Hoffman, E., Thompson, P., McDonald, C., Gordish-Dressman, H., Bello, L., Pegoraro, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 448 KB

english, 2015

148

A gene for speed: The influence of ACTN3 on muscle performance in health and disease

Houweling, P., Seto, J., Garton, F., Quinlan, K., Head, S., North, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

149

Dysregulated mitophagy and mitochondrial transport in sensori-motor neuropathy due to “Dominant Optic Atrophy” plus with OPA1 (Optic Atrophy 1) mutations

Liao, C., Diot, A., Ashley, N., Morten, K., Fratter, C., Moroni, I., Bianchi, S., Lamperti, C., Dombi, E., Downes, S., Sitarz, K., Yu-Wai-Man, P., Simon, A., Reilly, M., Enver, T., Iborra, F., Votruba

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

150

The importance of screening for late onset Pompe disease in neuromuscular disorders

Matsui, M., Saitou, T., Matsumura, T., Toyooka, K., Inoue, K., Fujimura, H., Sakoda, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

151

PGM1 deficiency – A heterogeneous myopathy with opportunities for treatment

Voermans, N., Preisler, N., Madsen, K., Janssen, M., Kusters, B., Maas, D., Groothuis, J., Vissing, J., van Engelen, B., Lefeber, D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

152

A higher dose of alglucosidase alpha in classic infantile Pompe disease positively affects ventilator-free survival and motor outcome: An open-label single-center study

van Gelder, C., Poelman, E., Plug, I., Hoogeveen-Westerveld, M., Kuperus, E., van der Beek, N., Reuser, A., van der Ploeg, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

153

Characteristic skeletal muscle imaging patterns in Japanese patients with Pompe disease

Ishigaki, K., Kobayashi, H., Sugie, H., Fukuda, T., Murakami, T., Sato, T., Ishiguro, K., Shichiji, M., Nagata, S., Osawa, M., Eto, Y., Nonaka, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

154

The experiences of individuals and families affected by spinal muscular atrophy (SMA) and their views on living with SMA

Qian, Y., McGraw, S., Henne, J., Jarecki, J., Hobby, K., Yeh, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

155

Parents' experiences of having a child with spinal muscular atrophy type 1: Informing clinical practice

Forbes, R., McClaren, B., Sahhar, M., Ryan, M., Higgs, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

156

Spontaneous breathing pattern in children with spinal muscular atrophy: Correlation with motor function assessment

Baranello, G., Arnoldi, M., Bussolino, C., Mastella, C., Aliverti, A., Lo Mauro, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

157

Response of biomarkers to treatment in mouse models of spinal muscular atrophy and response of SMA mice to later treatment

Burghes, A., Arnold, W., McGovern, V., Duque, S., Li, J., Iyer, C., Corlett, K., von Herrmann, K., Zaworski, P., Chen, K., Kolb, S., Paushkin, S., Kobayashi, D., Rutkove, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

158

Microvascular abnormality in spinal muscular atrophy and its response to antisense oligonucleotide therapy

Zhou, H., Ying, H., Scoto, M., Brogan, P., Parson, S., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

159

Dysregulation of microRNAs in spinal muscular atrophy and the response to antisense oligonucleotide therapy

Zhou, H., Catapano, F., Zaharieva, I., Scoto, M., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

160

Repetitive nerve stimulation in spinal muscular atrophy

Preterre, C., Magot, A., Geneau Bodis, F., Mercier, S., Fayet, G., Servais, L., Péréon, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

161

Type-specific selectivity pattern of skeletal muscle images in spinal muscular atrophy

Inoue, M., Ishiyama, A., Komaki, H., Takeshita, E., Shimizu-Motohashi, Y., Saito, T., Nakagawa, E., Sugai, K., Minami, N., Goto, Y., Sasaki, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

162

Muscle ultrasound in Duchenne muscular dystrophy: Useful tool to monitor progression of early disease

Karachunski, P., Dalton, J., Marsh, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

163

Longitudinal quantitative muscle MRI in 5 Duchenne boys on and off drisapersen treatment

Hooijmans, M., Wokke, B., Goemans, N., Campion, G., Verschuuren, J., Kan, H., Niks, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

164

Trends of steroid therapy for Duchenne muscular dystrophy in Japan

Takeuchi, F., Komaki, H., Nakamura, H., Yonemoto, N., Kashiwabara, K., Kimura, E., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

165

A pilot study using solution-focused coaching for health promotion in children and young people with Duchenne muscular dystrophy

McPherson, A., McAdam, L., Schwellnus, H., Keenan, S., Biddis, E., English, K., DeFinney, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

166

Correlation of respiratory function parameters in 10–18 year old patients with Duchenne muscular dystrophy

Rummey, C., Meier, T., Leinonen, M., McDonald, C., Buyse, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

167

Chemotherapy-induced mitochondrial respiratory dysfunction, oxidant production and death in healthy skeletal muscle C2C12 myoblast and myotube models

Cheregi, B., Timpani, C., Nurgali, K., Hayes, A., Rybalka, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

168

Gene mutation screening using whole exome sequencing in lipid storage myopathy

Takayama, K., Mitsuhashi, S., Nonaka, I., Noguchi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

169

Mitochondrial heat maps: A novel quantitative image analysis tool for assessing mitochondrial biogenesis in muscle biopsies

Phadke, R., Ellis, M., Sigurta, A., Saeed, S., Hill, N., Chambers, D., Singer, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

170

Structural muscle involvement in patients with chronic progressive external ophthalmoplegia assessed by quantitative MRI

Hedermann, G., Løkken, N., Dahlqvist, J., Vissing, C., Knak, K., Andersen, L., Thomsen, C., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

171

Very late-onset myasthenia gravis in Slovakia: Epidemiology and clinical characteristics

Spalek, P., Fulova, M., Martinka, I., Spalekova, M., Soskova, M., Urminska, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

172

Functional and pharmacological characterization of the new M1808I mutation in hNav1.4 found in a patient presenting with myotonia and myasthenia

Roussel, J., Imbrici, P., Maggi, L., Farinato, A., Crescenzo, G., Bernasconi, P., Mantegazza, R., Conte Camerino, D., Desaphy, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

173

Novel mutation in CACNA1S extends the phenotypic spectrum of periodic paralysis phenotypes: Electrodiagnostic and histopathological features

Iyadurai, S., Roggenbuck, J., Kissel, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

174

Congenital myasthenic syndromes in Israel: Genetic and clinical characterization

Aharoni, S., Sadeh, M., Sagi, L., Rabie, M., Daana, M., Argov, Z., Edvardson, S., Shapira, Y., Dor, T., Bloch, A., Engel, A., Nevo, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

175

Congenital myotonic dystrophy – implications for cardiology screening

Murphy, A., Porter, A., Bourke, J., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

176

Myotonic dystrophy type 1 (DM1): Audiological and vestibular features found in Mexican patients

Arenas-Sordo, M., Rivera-Mercado, B., Gutierrez-Tinajero, D., Martinez-Garcia Ramos, A., Trujillo-Bracamontes, M., Hernandez-Hernandez, O., Magaña-Aguirre, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

177

Neuroglial miscommunication in the cerebellum of a mouse model of myotonic dystrophy

Servais, L., Sicot, G., Dinca, D., Prigogine, G., Leroy, A., Medja, F., Chhuon, C., Huguet, A., Nicole, A., Gueriba, N., Guerrera, C., Cheron, G., Gourdon, G., Gomes-Pereira, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

178

FSHD 1 and 2 testing – a clinical diagnostic service perspective

Smith, D., Whittington, R., Lunt, P., Evangelista, T., Williams, M., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

179

High intensity training in patients with facioscapulohumeral muscular dystrophy

Buch, A., Andersen, G., Borup Heje Pedersen, K., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

180

Baseline characteristics of the CINRG infantile facioscapulohumeral muscular dystrophy cohort

Duong, T., Eagle, M., Feng, J., Mah, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

181

Control of transcription elongation is essential for cardiac and skeletal muscle development

Bharj, J., Usyaloglu, M., Osborn, D., Zheng, D., Jamshidi, Y., Conti, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

182

The effect of antioxidants in muscle regeneration process

Ishii, A., Yoshida, M., Ohkoshi, N., Tamaoka, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

183

ACE-083 increases muscle hypertrophy and strength in C57BL/6 mice

Pearsall, R., Widrick, J., Cotton, E., Sako, D., Liu, J., Davies, M., Heveron, K., Maguire, M., Castonguay, R., Krishnan, L., Troy, M., Liharska, K., Steeves, R., Strand, J., Keefe, T., Cannell, M., A

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

184

Clinical and molecular features of a large cohort of Italian McArdle patients

Cassandrini, D., Tonin, P., Morandi, L., Musumeci, O., Filosto, M., Siciliano, G., Pegoraro, E., Santoro, L., Massa, R., Mongini, T., Sacchini, M., Bertini, E., Marrosu, G., Rigoldi, M., Burlina, A.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

185

Myophosphorylase (PYGM) mutations in Turkish patients with McArdle disease: A next generation sequencing study

Inal Gültekin, G., Toptaş Hekimoğlu, B., Görmez, Z., Durmuş, H., Demirci, H., Sağıroğlu, M., Parman, Y., Deymeer, F., Yılmaz, H., Pençe, S., Kurt, C., Tan, E., Özdamar, S., Giger, U., Öztürk, O., Serd

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

186

Evaluation of maximum oxygen utilization in McArdle patients before and after exercise training

Gelisin, O., Durmus, H., Yakal, S., Kasikcioglu, E., Parman, Y., Deymeer, F., Oflazer-Serdaroğlu, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

187

McArdle disease: Clinical features, electrophysiological studies, muscle biopsy and molecular genetics

Lorenzoni, P., Scola, R., Kay, C., Arndt, R., Silvado, C., Werneck, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

188

Clinical and paraclinical features of phosphoglucomutase type 1 deficiency: Biochemical clues for the diagnosis

Souvannanorath, S., Laforêt, P., Bruneel, A., Morava, E., Sarret, C., Aumaitre, O., Dupre, T., Stojkovic, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

189

A novel neuromuscular form of glycogen storage disease type IV characterized by spinal stiffness, arthrogrypotic features, and rare polyglucosan bodies in muscle biopsy

Malfatti, E., Barnerias, C., Hedberg-Oldfors, C., Gitiaux, C., Allamand, V., Carlier, R., Oldfors, A., Quijano-Roy, S., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

190

Unusual demyelinating pathology in a case of adult polyglucosan body disease

Phadke, R., Murphy, E., Cicarrelli, O., Koltzenburg, M., Kirk, R., Lunn, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

191

Hereditary spastic paraplegia and peroxisome biogenesis disorders: Case report of a patient with mutations in PEX10 gene

Nascimento, A., Ortez, C., Sariego, A., Gerotina, E., Armstrong, J., Sierra, C., Artuch, R., Jou, C., Jimenez-Mallebrera, C., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

192

Atypical presentation of SMARD1

Kulshrestha, R., Kiely, N., Willis, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

193

Next generation sequencing identifies a novel ATP7A mutation in two brothers with distal hereditary motor neuropathy and autonomic dysfunction

Scotton, C., Italyankina, E., Storbeck, M., Vezyroglou, K., Heller, R., Neri, M., Di Raimo, F., Mauro, A., Tugnoli, V., Timmerman, V., Wirth, B., De Grandis, D., Gualandi, F., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

194

Mutations in ASAH1 may cause spinal muscular atrophy

Behin, A., Nelson, I., Bonne, G., Romero, N., Froissart, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

195

Modeling and pathophysiological analysis of the ubiquilin-2-linked amyotrophic lateral sclerosis (ALS) with AAV vectors

Bos, C., Biferi, M., Cohen-Tannoudji, M., Roda, M., Barkats, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

196

Survey of clinicians' experience and attitudes regarding spinal muscular atrophy with respiratory distress syndrome type 1 (SMARD1) in the UK

Shah, S., Jerrom, T., Fraser, J., Majumdar, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

197

Arm function of boys with Duchenne muscular dystrophy explored by surface electromyography and muscle force measurements

Janssen, M., Harlaar, J., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

198

Development of a patient-reported outcome measure for arm and hand function in Duchenne muscular dystrophy (UL-PROM DMD)

Klingels, K., Mayhew, A., Mazzone, E., Main, M., Decostre, V., van den Hauwe, M., Eagle, M., Duong, T., de Groot, I., Ricotti, V., Werlauff, U., Campion, G., Vroom, E., Mercuri, E., Goemans, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

199

Exploring the relationships between grip and pinch strength and functional scales

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

200

A newly developed six-minute walking test for Duchenne muscular dystrophy

Genno, H., Nishizawa, H., Shiba, N., Nakamura, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

201

Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant: Implications for clinical trials

Ricotti, V., Eagle, M., Butler, J., Decostre, V., Deborah, R., Moraux, A., Anthony, K., Sleby, V., Guglieri, M., van der Holst, M., Jansen, M., Morgan, J., de Groot, I., Niks, E., Verschuuren, J., Ser

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

202

The relevance of timed movements on functional assessment in Duchenne muscular dystrophy

Voos, M., Martini, J., Simões, M., Hukuda, M., Favero, F., Oliveira, A., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

203

Responsiveness of the Functional Evaluation Scale for patients with Duchenne muscular dystrophy – domain 1: Sitting and rising from the chair

Voos, M., Hukuda, M., de Carvalho, E., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

204

Responsiveness of the Functional Evaluation Scale for patients with Duchenne muscular dystrophy – domain 2: Gait

de Carvalho, E., Hukuda, M., Voos, M., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

205

Natural history study of mouse models for limb girdle muscular dystrophy, types 2D and 2F

van Putten, M., Tanganyika-de Winter, C., van der Meulen, J., van Vliet, L., Plomp, J., Aartsma-Rus, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

206

LGMD1F: A morphological study

San Millan, B., Ortolano, S., Teijeira, S., Gamez, J., Andreu, A., Marti, R., Navarro, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

207

A novel mutation in DNAJB6 causes LGMD1D in two French families

Jonson, P., Evilä, A., Stojkovic, T., Chapon, F., Luque, H., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

208

Agreeing best practice guidelines for inclusion body myositis

Rose, M., Jones, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

209

Resource utilization in a US-based sample of patients with sporadic inclusion body myositis (sIBM)

DeMuro, C., Williams, V., Goldberg, R., Lowes, L., Price, M., Capkun, G., Barghout, V., Tseng, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

210

Establishing normative data for the 60 and 100-m run test in healthy male controls

Lowes, L., Alfano, L., Berry, K., Leggett, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

211

Clinical assessment of respiratory dysfunction in children with neuromuscular diseases

Bozdemir Özel, C., Bulut, N., Alkan, H., Öncel, I., Yılmaz, O., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

212

The feasibility of rare neuromuscular disease trials: Presenting the “clinical research unit” as a model framework

Genge, A., Campbell, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

213

Clinical psychology provision in the neuromuscular team

Easthope-Mowatt, Y., Kulshrestha, R., Willis, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

214

Evaluation of patient experience of transition in the neuromuscular clinic

Willis, T., Mahabeer, I., Alhaswani, Z.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

215

Triple trouble – DMD, autism, epilepsy

Mrazova, L., Jurikova, Z., Danhofer, P., Pejcochova, J., Vondracek, P., Zamecnik, J., Honzik, T., Oslejskova, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

216

Autoimmune neuropathies: Pathogenesis and future perspectives

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

217

Cancer and necrotizing immune myopathy: High incidence in anti-HMGCR positive and seronegative patients but not in anti-SRP positive patients

Allenbach, Y., Kaeren, J., Bouvier, A., Champtiaux, N., Shoindre, N., Mariampillai, K., Rigolet, A., Musset, L., Laforêt, P., Eymard, B., Stojkovic, T., Behin, A., Hervier, B., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

218

Integrins are required for synaptic transmission and development of the neuromuscular junction

Ross, J., Webster, R., Lechertier, T., Reynolds, L., Muntoni, F., Beeson, D., Hodivala-Dilke, K., Conti, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

219

Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

de Cid, R., Ben Yaou, R., Roudaut, C., Baulande, S., Leturcq, F., Bonne, G., Udd, B., Romero, N., Charton, K., Malfatti, E., Nelson, I., Eymard, B., Richard, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

220

RNA profiling discloses a link between circadian genes and muscle damage in Duchenne Muscular Dystrophy

Scotton, C., Armaroli, A., Osman, H., Falzarano, M., Capogrosso, R., Cozzoli, A., Camerino, G., De Luca, A., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

221

Role of hypoxia in innate immunity activation in dermatomyositis

Gallardo, E., Suarez-Calvet, X., De Luna, N., Rojas-Garcia, R., Diaz-Manera, J., Illa, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

222

How do tissue infiltrating B cells correlate with other inflammatory features in muscle tissue from patients with JDM and their clinical parameters?

Sag, E., Yasin, S., Arnold, K., Holton, J., Jacques, T., Wedderburn, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

223

Pattern of Perifascicular involvement differentiates the anti-Jo1 inflammatory myopathy (IM) from dermatomyositis (DM)

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

224

A case of chronic sarcoid myopathy with IBM like distal muscle involvement

Karasoy, H., Eroglu, M., Gokcay, F., Argin, M., Ekmekci, O., Yuceyar, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

225

Early onset autoimmune necrotizing myopathy associated with anti-HMGCR antibodies: An unmissable diagnosis

Paipa Merchan, A., Jou, C., Kapetanovic, S., Velez, V., Fernández Cuesta, M., García-Bragado, F., Ortez, C., Vidal, N., Jimenez-Mallebrera, C., Colomer, J., Nascimento, A., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

226

Plasma IP-10 level distinguishes inflammatory myopathy

Uruha, A., Noguchi, S., Sato, W., Nishimura, H., Mitsuhashi, S., Yamamura, T., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

227

Glutathione imbalance in blood of patients with Duchenne muscular dystrophy

Petrillo, S., Piemonte, F., Catteruccia, M., Bertini, E., D'Amico, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

228

Inflammatory- and NaCl-induced expression of NFAT5 in muscle cells point to common stress response mechanisms

Herbelet, S., Schmidt, K., Zschuntzsch, J., Nys, E., Weynants, L., De Paepe, B., De Wever, O., De Bleecker, J., Schmidt, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

229

Gene expression profiling of blood in patients with Duchenne muscular dystrophy

Wong, B., Liu, D., Hu, S., Morehart, P., Stamova, B., Ander, B., Sharp, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

230

Breakpoint spanning PCR of the DMD gene to resolve discrepancy between MLPA and targeted aCGH results to confirm predicted effect on reading frame

Ulm, E., Hegde, M., Ramesh Reddy Nallamilli, B., Alexander, J., Wong, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

231

Genetic polymorphisms modify intramuscular fat infiltration in Duchenne muscular dystrophy

Barnard, A., Romero de Mello Sa, S., Willcocks, R., Senesac, C., Finkel, R., Forbes, S., Sweeney, H., Tennekoon, G., Triplett, W., Lott, D., Wang, D., Byrne, B., Hammers, D., Pham, J., Rooney, W., Fin

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

232

Phenotypic variability of Pro209Leu BAG3 mutations: Cardiomyopathy, demyelinating neuropathy and a long QT syndrome

Kostera-Pruszczyk, A., Ploski, R., Potulska-Chromik, A., Sadurska, E., Pruszczyk, P., Karolczak, J., Redowicz, M., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

233

Literature synthesis of RyR1 and its interacting proteins

Witherspoon, J., Jain, M., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

234

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study

Bamaga, A., Riazi, S., Amburgey, K., Halliday, W., Guerguerian, A., Dowling, J., Yoon, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

235

First drug registry in Duchenne muscular dystrophy (DMD) to assess Translarna (Ataluren) use, safety, and effectiveness in routine clinical practice

Bushby, K., Reha, A., Northcutt, V., Luo, X., Ong, T., Park, S., Spiegel, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

236

Second generation utrophin modulator for the therapy of Duchenne muscular dystrophy

Guiraud, S., Squire, S., Edwards, B., Chen, H., Burns, D., Shah, N., Babbs, A., Davies, S., Wynne, G., Russell, A., Elsey, D., Wilson, F., Tinsley, J., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

237

Discovery of small molecule utrophin modulators for the therapy of Duchenne muscular dystrophy (DMD)

Araujo, N., Vuorinen, A., Fairclough, R., Guiraud, S., Donald, J., Cairnduff, C., Hewings, D., Martinez, F., Csatayova, K., Willis, N., Squire, S., Babbs, A., Edwards, B., Shah, N., Tinsley, J., Wilso

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

238

Small molecule compounds that promote exon skipping in the DMD gene

Naryshkin, N., Dakka, A., Gabbeta, V., Pichardo, J., Vazirani, P., Ryan, G., Woll, M., Turpoff, A., Zhang, N., Zhang, S., Karp, G., Welch, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

239

Idebenone improves respiratory function in pediatric and adolescent patients with Duchenne muscular dystrophy not using glucocorticoid steroids

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

240

VISION – DMD: Drug development of VBP15, an experimental steroid-like drug for DMD

Clemens, P., Guglieri, M., Cnaan, A., Damsker, J., Gordish-Dressman, H., Morgenroth, L., Nagaraju, K., Hathout, Y., Hoffman, E., Bushby, K., Morgenroth Hache, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

241

A novel clinical trial design to evaluate the efficacy and safety of two exon-skipping PMOs, SRP-4045 and SRP-4053, in patients with Duchenne muscular dystrophy

Laforet, G., Kaye, E., Saoud, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

242

The application of antisense oligonucleotide therapy in collagen 6-related congenital muscular dystrophy

Zhou, H., Marrosu, E., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

243

Electrical impedance myography as a potential biomarker in individuals with COL6-related dystrophy

Nichols, C., Lehky, T., Waite, M., Duong, T., Nelson, L., Keller, K., Lott, D., Meilleur, K., Collins, J., Dastgir, J., Vuillerot, C., Rutkowski, A., Donkervoort, S., Leach, M., Jain, M., Bönnemann, C

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

244

Correlation between crural muscle fatty change and maximum motor function in Fukuyama congenital muscular dystrophy patients

Ishigruo, K., Ishigaki, K., Sato, T., Murakami, T., Shichiji, M., Saito, K., Osawa, M., Nagata, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

245

Assessment of growth and development in patients with Fukuyama congenital muscular dystrophy using bioelectrical impedance analysis

Murakami, T., Uchiyama, T., Nakayama, T., Ishiguro, K., Sato, T., Kuru, S., Ishigaki, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

246

Homozygous splicing mutation in ISPD gene in a girl with Walker–Warburg syndrome

Tanboon, J., Noguchi, S., Mitsuhashi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

247

DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan

Noguchi, S., Dong, M., Endo, Y., Hayashi, Y., Yoshida, S., Nonaka, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

248

Relative prevalence of congenital muscular dystrophy subtypes in Korea

Cho, A., Lim, B., Kim, K., Hwang, Y., Chae, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

249

Launching the first clinical trial in SEPN1-related myopathy: The SELNAC study

Dill, C., Prigent, H., Behin, A., Piemonte, F., Bertini, E., Orlikowski, D., Estournet, B., Ferreiro, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

250

Utility of respiratory database in a tertiary neuromuscular clinic: A 10-year experience

Mozaffar, T., Goyal, N., Cash, T., Rai, S., Wang, A., Chui, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

251

A family with DNM2-related centronuclear myopathy without ophthalmoplegia

Park, J., Kim, S., Kim, D., Shin, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

252

WES revealed a de-novo missense mutation in the NALCN gene in a Freeman–Sheldon-(DA2A) like syndrome with CNS involvement

Karakaya, M., Kunde, V., Heller, R., Nürnberg, P., Cirak, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

253

Congenital myopathy, obesity, overgrowth, distinctive features and lymphoedema in a family: Chance association or overgrowth syndrome

Dawson, P., Toms, B., Wragg, C., Majumdar, A., Vijayakumar, K., Love, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

254

Steroid benefit in a laminopathy-congenital muscular dystrophy patient with dropped head syndrome: A 10-year follow-up

Gurgel-Giannetti, J., Ribeiro, B., Uliana, L., Sampaio, G., Giannetti, A., Van der Linden, V., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

255

MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients

Fiorillo, C., Savarese, M., Astrea, G., Cassandrini, D., Ruggiero, L., Fanin, M., Vercelli, L., D'Amico, A., Pane, M., Tasca, G., Morandi, M., Pegoraro, E., Santoro, L., Mercuri, E., Mora, M., Bertini

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

256

Analysis of the pathogenesis of vocal cord and pharyngeal weakness with distal myopathy

Yamashita, S., Nishikami, T., Tawara, N., Doki, T., Nakajo, Y., Matsuo, Y., Yonemochi, Y., Nagai, M., Maeda, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

257

Unique myopathy presenting in adulthood with proximal muscle weakness and respiratory insufficiency

Goyal, N., Waldrop, M., Mozaffar, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

258

Deletion of the P2 promoter of the GJB1 gene confirms X-linked Charcot–Marie–Tooth disease in a large family

Kulshrestha, R., Antoniadi, T., Burton-Jones, S., Rogers, M., Kiely, N., Willis, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

259

Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Bharucha-Goebel, D., Ezzo, D., Jain, M., Waite, M., Nichols, C., Lehky, T., Mohassel, P., Donkervoort, S., Leach, M., Dastgir, J., Marra, J., Zein, W., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

260

A novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhidrosis (CIPA)

Forrester, N., Burton-Jones, S., Antoniadi, T., Norman, A., Majumdar, A., Vijayakumar, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

261

Etiological yield of muscle biopsy in the newborn period

Serdaroglu, E., Haliloglu, G., Talim, B., Yigit, S., Yurdakok, M., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

262

Molecular basis of stiff patient syndrome caused by mutations in ACTA1 and TPM3

Papadaki, M., Marston, S., Memo, M., Messer, A., Donkervoort, S., Bönnemann, C., Nowak, K., Ong, R., McNamara, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

263

Cytoplasmic body pathology in severe ACTA1-myopathy in the absence of typical nemaline-rod histology

Donkervoort, S., Chan, S., Bradley, N., Foley, A., Nguyen, D., Hu, Y., Leach, M., Thangarajh, M., Reyes, C., Nance, J., Moore, S., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

264

Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies

Avila-Polo, R., Malfatti, E., Nelson, I., Nectoux, J., Böhm, J., Abath-Neto, O., Eymard, B., Monges, S., Lubieniecki, F., Brochier, G., Beuvin, M., Madelaine, A., Labasse, C., Taratuto, A., Udd, B., R

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

265

Novel histopathological phenotypes associated with TPM2 and TPM3-related congenital myopathies

Malfatti, E., Abath Neto, O., Fardeau, M., Laporte, J., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

266

A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome

Harris, E., Hudson, J., Marsh, J., Marini Bettolo, C., Neri, M., Ferlini, A., Bushby, K., Lochmüller, H., Straub, V., Barresi, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

267

Lack of estrogens aggravates the pathology in dystrophic mice

Gayi, E., Ismail, H., Neff, L., Patthey-Vuadens, O., Saibara, T., Toda, K., Ruegg, U., Scapozza, L., Dorchies, O.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

268

Effect of treatment with grow factors on muscle pathology in the mdx mouse model of Duchenne muscular dystrophy

Nielsen, T., Pinos, T., Krag, T., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

269

Adiponectin, a powerful brake on skeletal muscle inflammation and injury

Abou-Samra, M., Lecompte, S., Schakman, O., Noel, L., Lafosse, A., Many, M., Gailly, P., Brichard, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

270

Effect of forced and voluntary exercise on heart function in mice with low dystrophin levels

van Putten, M., Kogelman, B., Tanganyika-de Winter, C., Werring, R., Hulsker, M., van der Weerd, L., Aartsma-Rus, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

271

Large screening of patients diagnosed as limb girdle muscular dystrophy or congenital myopathy using Motorplex

Savarese, M., Di Fruscio, G., Bruno, C., Torella, A., Giugliano, T., Mora, M., Morandi, L., Siciliano, G., Toscano, A., Garofalo, A., Mongini, T., Angelini, C., Santoro, L., Claes, K., Bertini, E., Sa

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

272

High-throughput genetic testing for muscle disease and an exome database of the undiagnosed in Japan

Mitsuhashi, S., Nishikawa, A., Zhu, W., Termglinchan, T., Shin, J., Takayama, K., Uruha, A., Endo, Y., Noguchi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

273

Book review

Jungbluth, Heinz

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 283 KB

english, 2015

274

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation

Chamova, Teodora, Guergueltcheva, Velina, Gospodinova, Mariana, Krause, Sabine, Cirak, Sebahattin, Kaprelyan, Ara, Angelova, Lyudmila, Mihaylova, Violeta, Bichev, Stoyan, Chandler, David, Naydenov, Em

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 745 KB

english, 2015

275

A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype

Nam, Tai-Seung, Li, Wenting, Heo, Suk-Hee, Lee, Kyung-Hwa, Cho, Anna, Shin, Jin-Hong, Kim, Young Ok, Chae, Jong-Hee, Kim, Dae-Seong, Kim, Myeong-Kyu, Choi, Seok-Yong

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.38 MB

english, 2015

276

Dropped-head in recessive oculopharyngeal muscular dystrophy

Garibaldi, Matteo, Pennisi, Elena Maria, Bruttini, Mirella, Bizzarri, Veronica, Bucci, Elisabetta, Morino, Stefania, Talerico, Caterina, Stoppacciaro, Antonella, Renieri, Alessandra, Antonini, Giovann

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 825 KB

english, 2015

277

LRP4 myasthenia: Investigation of a second kinship reveals impaired development and maintenance of the neuromuscular junction

Selcen, D., Ohkawara, B., Shen, X., McEvoy, K., Ohno, K., Engel, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 223 KB

english, 2015

278

Generation and rescue of intermediate SMA mice by low-dose morpholino antisense oligomer

Zhou, H., Meng, J., Marrosu, E., Janghra, N., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

279

Visual, cognitive and motor skills in children with type I spinal muscle atrophy

Voos, M., Polido, G., Barbosa, A., Favero, F., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

280

Audit of DEXA bone density scans in boys with Duchenne muscular dystrophy who have sustained fractures

Willis, T., Emery, N., Kulshrestha, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

281

Magnetic resonance imaging of the arm and shoulder of boys with DMD

Willcocks, R., Forbes, S., Triplett, W., Lott, D., Senesac, C., Nicholson, T., Arora, H., Walter, G., Vandenborne, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

282

Long-term follow up of patients with dystrophin deficiency and isolated hyperCKemia

Marti, P., Muelas, N., Mayordomo, F., Azorin, I., Blanch, S., Millan, C., Jaijo, T., Vilchez, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

283

Duchenne muscular dystrophy caused by a DMD nonsense mutation transmitted from a grandfather with somatic mosaicism

Ulm, E., Walker, M., Wong, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

284

Not motoneuron disease – a case of late-onset multiple acyl-CoA dehydrogenase deficiency

Merkel, C., Boy, N., Kappes-Horn, K., Reimann, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

285

Myasthenia gravis and pregnancy: A brief review of 37 pregnancies

Ducci, R., Lorenzoni, P., Kay, C., Werneck, L., Scola, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

286

New SCN4A mutations – unusual clinical phenotypes

Sandell, S., Palmio, J., Penttilä, S., Suominen, T., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

287

Why are FSHD muscles weak? A novel role for sarcomeric proteins

Lassche, S., Voermans, N., Heerschap, A., Hopman, M., Kusters, B., van der Maarel, S., Stienen, G., Ottenheijm, C., van Engelen, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

288

Pain and quality of life in the UK FSHD patient registry

Evangelista, T., Wood, L., Pohlschmidt, M., Longman, C., Roberts, M., Hilton-Jones, D., Lunt, P., Wills, T., Orrell, R., Norwood, F., Williams, M., Smith, D., Hudson, J., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

289

Resolaris, a potential therapeutic for rare myopathies with an immune component

McKew, J., Ashlock, M., Ogilvie, K., Nangle, L., Taylor, K., Chiang, K., Mertsching, E., Chang, J., Moldt, K., Polizzi, C., Xu, Z., Lo, C., Lau, C., Adams, R., Chong, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

290

Axial myopathy in a patient with a heterozygous MSTN mutation

Voermans, N., Kusters, B., Rooy, J., Dieks, R., van Engelen, B., Kamsteeg, E., Schülke, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

291

Insulin-like growth factor binding protein 1 knockout increases free serum IGF-1 and enhances skeletal muscle mass and force in vivo

Eilers, W., Crossey, P., Foster, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

292

Glycogen storage disease type XV: A case report

Gardiner, A., Scalco, R., Pitceathly, R., Holton, J., Hanna, M., Schapira, A., Houlden, H., Lachmann, R., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

293

Occurrence of CHCHD10 mutations in Finnish patients with motor neuron disorder

Penttilä, S., Jokela, M., Saukkonen, A., Toivanen, J., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

294

Upper limb function in Duchenne muscular dystrophy – a natural history, investigating upper limb performance relative to ambulatory stage

Goubran, J., Carroll, K., Ryan, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

295

Assessment of early motor development in young boys with Duchenne muscular dystrophy

Klingels, K., van den Hauwe, M., Smeets, F., Schraeyen, M., Buyse, G., Goemans, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

296

Validity of ACTIVE for use across ambulatory abilities in Duchenne muscular dystrophy

Lowes, L., Alfano, L., Berry, K., Flanigan, K., Mendell, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

297

Progression of timed performance and compensatory movements on locomotion tasks (10-m walking and climbing up and down steps) in children with Duchenne muscular dystrophy

Voos, M., Martini, J., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

298

Functional and gait assessment in children with Duchenne muscular dystrophy: Quantitative and functional evaluation

Vasco, G., Petrarca, M., D'Amico, A., Colia, G., Catteruccia, M., Gazzellini, S., Carniel, S., Pisano, A., Castelli, E., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

299

The importance of dosage analysis in dysferlinopathy

Hudson, J., Graham, E., Charlton, R., Guglieri, M., Bushby, K., Straub, V., Barresi, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

300

Muscle strength relative to cross-sectional area in hypertrophic calf muscles of patients affected by limb girdle type 2I and Becker muscular dystrophies

Løkken, N., Hedermann, G., Thomsen, C., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

301

Sporadic inclusion body myositis misdiagnosed as granulomatous myositis

Mozaffar, T., Lavian, M., Goyal, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

302

Assessment of a panel of antibodies to myosin heavy chains applied to human skeletal muscle biopsies

Feng, L., Chambers, D., Bhardwaj, N., Phadke, R., Muntoni, F., Sewry, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

303

Comparison of ACTIVE-mini to the Vicon motion camera system in measuring infant movements

Lowes, L., McNally, M., Alfano, L., Berry, K., Mendell, J., Heathcock, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

304

Life as a teenage girl with NMD in Denmark is good – And difficult

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

305

Myasthenia: Novel antigens and therapies

Verschuuren, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

306

Roles of hypoxia and innate immune mechanisms in juvenile and adult dermatomyositis

Preuße, C., Allenbach, Y., Goebel, H., Pehl, D., Radke, J., Schneider, U., Vorgerd, M., v. Moers, A., Schoser, B., Schara, U., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

307

Inflammatory milieu of muscle biopsies and clinical features in juvenile dermatomyositis

Sag, E., Ozen, S., Kale, G., Topaloğlu, H., Talim, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

308

miRNAs as serum biomarkers for Duchenne muscular dystrophy: Correlation analysis in a multicentre study between miRNA levels and clinical status of DMD patients

D'Amico, A., Martone, J., Previtali, S., Baranello, G., D'Angelo, G., Berardinelli, A., Messina, S., Vita, G., Pane, M., Morandi, L., Mercuri, E., Catteruccia, M., Bertini, E., Bozzoni, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

309

microRNA and mRNA expression networks in Duchenne muscular dystrophy

Wong, B., Liu, D., Stamova, B., Hu, S., Morehart, P., Ander, B., Jickling, G., Zhan, X., Sharp, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

310

A novel phenotype associated with STIM1 gene: A case report of a patient with a painful myopathy

Neri, M., Harris, E., Scotton, C., Topf, A., Fang, M., Wang, J., Barresi, R., Lochmüller, H., Straub, V., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

311

Mutated HSPB8 causes both neurogenic and myopathic disease with muscle proteinopathy

Lindfors, M., Ghaoui, R., Penttila, S., Palmio, J., Needham, M., North, K., Clarke, N., Sue, C., Jonson, P., Vihola, A., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

312

Exon 53 skipping of the dystrophin gene in patients with Duchenne muscular dystrophy by systemic administration of NS-065/NCNP-01: A phase 1, dose escalation, first-in-human study

Komaki, H., Nagata, T., Saito, T., Masuda, S., Takeshita, E., Tachimori, H., Sasaki, M., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

313

Nonclinical pharmacokinetic evaluation of Eteplirsen, SRP-4045, and SRP-4053: Three Phosphorodiamidate morpholino oligomers (PMOs) for the treatment of patients with Duchenne muscular dystrophy (DMD)

Sazani, P., Charleston, J., Shanks, C., Zhang, J., Carver, M., Saoud, J., Kaye, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

314

Gait in children with collagen 6 disorders – A prospective study

Carroll, K., Kennedy, R., de Valle, K., Ryan, M., Kornberg, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

315

Test–retest reliability of the 2- and 6-minute walk tests in patients with neuromuscular diseases

Knak, K., Andersen, L., Witting, N., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

316

Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy

Zaharieva, I., Thor, M., Oates, E., Karnebeek, C., Kamsteeg, E., Hartley, L., Blom, E., Witting, N., Rasmussen, M., Gabbett, M., Ravenscroft, G., Hanna, M., Ruben, P., Lewis, S., Mannikko, R., Muntoni

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

317

Charcot–Marie–Tooth type 4B1 (MTMR2 gene): Confounding clinical presentation and report of 5 original mutations

Guimarães-Costa, R., Latour, P., Ferrer, X., Solé, G., Husson, I., Lacour, A., Dubourg, O., Leonard-Louis, S., Stojkovic, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

318

Cardiomyopathy in patients with ACTA1-myopathy

Donkervoort, S., Yang, M., Leach, M., Medne, L., Yum, S., Hotchkiss, L., Rutkowski, A., Chatfield, K., Auerbach, S., Miyamoto, S., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

319

Functional assessment of nebulin missense variants

Laitila, J., Marttila, M., Lehtokari, V., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

320

Sarcolemmal nNOSµ targeting in mdx mice improves muscle function and restores dystrophin complex proteins via α-syntrophin

Kim, M., Rebolledo, D., Whitehead, N., Adams, M., Froehner, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

321

The mdx mutation in the 129/Sv background results in a milder phenotype: Transcriptome comparative analysis searching for the protective factors

Calyjur, P., Almeida, C., Santos, A., Onofre-Oliveira, P., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

322

Preclinical data for a novel Toll-like receptor antagonist in mdx mice support its clinical development as a potential treatment for disease-related muscle inflammation in Duchenne muscular dystrophy

Boehler, J., Nagaraju, K., Hurtt, M., Agrawal, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

323

D-amino acid substitution of peptide-mediated NF-κB suppression in mdx mice preserves therapeutic benefit in skeletal muscle, but causes kidney toxicity

Clemens, P., Reay, D., Bastacky, S., Wack, K., Stolz, D., Robbins, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

324

Simultaneous muscle water T2 and fat fraction mapping from NMR transverse relaxometry with stimulated echo compensation

Marty, B., Baudin, P., Reyngoudt, H., Azzabou, N., Araujo, E., Carlier, P., de Sousa, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

325

Kinesthesia in children with Duchenne muscular dystrophy

Akel, B., Karayazgan, S., Subası, S., Bulut, N., Yılmaz, O., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

326

Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis

Santos, Ernestina, Moreira, Isabel, Coutinho, Ester, Gonçalves, Guilherme, Lopes, Carlos, Lopes Lima, José, Leite, M. Isabel

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 384 KB

english, 2015

327

Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults

Tarnopolsky, M., Hoffman, E., Giri, M., Shoffner, J., Brady, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 471 KB

english, 2015

328

Neuronal nitric oxide synthase localizes to utrophin expressing intercalated discs and stabilizes their structural integrity

Gonzalez, J. Patrick, Crassous, Pierre-Antoine, Schneider, Joel S., Beuve, Annie, Fraidenraich, Diego

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 7.30 MB

english, 2015

329

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Kaplan, Jean-Claude, Hamroun, Dalil

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 657 KB

english, 2015

330

Unnatural natural history of Duchenne muscular dystrophy

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 338 KB

english, 2015

331

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development

Vulin, Adeline, Wein, Nicolas, Simmons, Tabatha R., Rutherford, Andrea M., Findlay, Andrew R., Yurkoski, Jacqueline A., Kaminoh, Yuuki, Flanigan, Kevin M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 5.51 MB

english, 2015

332

210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27–29 March, 2015, Naarden, The Netherlands

Pennuto, Maria, Greensmith, Linda, Pradat, Pierre-François, Sorarù, Gianni

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 491 KB

english, 2015

333

Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time

Baudin, Pierre-Yves, Marty, Benjamin, Robert, Benjamin, Shukelovitch, Alexey, Carlier, Robert Y., Azzabou, Noura, Carlier, Pierre G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.52 MB

english, 2015

334

Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy

Mankodi, Ami, Grunseich, Christopher, Skov, Martin, Cook, Lisa, Aue, Georg, Purev, Enkhtsetseg, Bakar, Dara, Lehky, Tanya, Jurkat-Rott, Karin, Pedersen, Thomas H., Childs, Richard W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 942 KB

english, 2015

335

A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers

Rinz, Caitlin J., Lennon, Vanda A., James, Fiona, Thoreson, James B., Tsai, Kate L., Starr-Moss, Alison N., Humphries, H. Dale, Guo, Ling T., Palmer, Anthony C., Clark, Leigh Anne, Shelton, G. Diane

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.12 MB

english, 2015

336

Adeno-associated virus vector (AAV) microdystrophin gene therapy prolongs survival and restores muscle function in the canine model of Duchenne muscular dystrophy (DMD)

Le Guiner, C., Servais, L., Montus, M., Bodvael, F., Gjata, B., Hogrel, J.Y., Carlier, P., Moullec, S., Masurier, C., Adjali, O., Mingozzi, F., Koo, T., Athanasopoulos, T., Cherel, Y., Mavilio, F., Vo

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

337

Schwartz–Jampel syndrome with learning difficulties and without osteochondrodysplasia

Coppens, S., Ziereisen, F., Glibert, G., Valero-Hervás, D., Santillán, S., Vilain, C., Deconinck, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

338

Book review

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 281 KB

english, 2015

339

Characteristic MRI findings of upper limb muscle involvement in myotonic dystrophy type 1

Sugie, K., Sugie, M., Taoka, T., Tonomura, Y., Kumazawa, A., Izumi, T., Ueno, S., Kichikawa, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

340

The influence of somatosensory and muscular deficits on postural stabilization: Insights from an instrumented analysis of subjects affected by different types of Charcot–Marie–Tooth disease

Lencioni, Tiziana, Piscosquito, Giuseppe, Rabuffetti, Marco, Bovi, Gabriele, Calabrese, Daniela, Aiello, Alessia, Di Sipio, Enrica, Padua, Luca, Diverio, Manuela, Pareyson, Davide, Ferrarin, Maurizio

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 592 KB

english, 2015

341

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, Bertini, Enrico

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.62 MB

english, 2015

342

20th WMS Congress – 2015 – Program

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 406 KB

english, 2015

343

Neuromyotonia: Clinical, electrophysiological and immunological findings

Lorenzoni, P., Miranda, A., Filla, L., Kay, C., Vicent, A., Werneck, L., Scola, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

344

Cautionary tale in Duchenne muscular dystrophy – Opioids in neuromuscular disorders

Marini Bettolo, C., Guglieri, M., van Ruiten, H., Straub, V., Bushby, K., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

345

Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations

Svahn, J., Streichenberger, N., Benveniste, O., Menassa, R., Michel, L., Fayolle, H., Petiot, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.38 MB

english, 2015

346

Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1

Park, Hyung Jun, Hong, Ji-Man, Lee, Jung Hwan, Lee, Hyung Seok, Shin, Ha Young, Kim, Seung Min, Ki, Chang-Seok, Lee, Ji Hyun, Choi, Young-Chul

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

347

Reversible immortalization allows human artificial chromosome-mediated gene correction of human dystrophic muscle progenitor cells

Benedetti, S., Hoshiya, H., Ragazzi, M., Uno, N., Kazuki, Y., Ferrari, G., Tonlorenzi, R., Lombardo, A., Mouly, V., Naldini, L., Messina, G., Oshimura, M., Cossu, G., Tedesco, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

348

Phenotype-antibody correlation in dermatomyositis (DM)

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

349

Disease modifying factors in facioscapulohumeral muscular dystrophy: Protocol of the FSHD-FOCUS study

Mul, K., Horlings, G., Lemmers, R., Voermans, N., van der Maarel, S., van Engelen, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

350

Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA

Nishida, A., Minegishi, M., Takeuchi, A., Niba, T., Awano, H., Lee, T., Iijima, K., Takeshima, Y., Matsuo, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

351

Reachable workspace and performance of upper limb (PUL) in Duchenne muscular dystrophy

McDonald, C., Han, J., de Bie, E., Nicorici, A., Abresch, R., Anthonisen, C., Bajcsy, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

352

GNE myopathy worldwide epidemiology based on the patient self-reported registry

Pogoryelova, O., Cammish, P., Skrinar, A., Rao, S., Lochmüller, H., Kakis, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

353

A European prospective study of the natural history of patients with type 2 and 3 spinal muscular atrophy

Annoussamy, M., Chabanon, A., Phelep, A., Hogrel, J.Y., Carlier, P., Fournier, E., Hermosilla, R., Ramey, G., Czech, C., Lowes, L., Péréon, Y., Cances, C., Cuisset, J., Laugel, V., Vuillerot, C., Daro

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

354

Frequency and natural history of sarcoglycanopathies in Paris neuromuscular centers

Guimarães-Costa, R., Behin, A., Stojkovic, T., Leonard-Louis, S., Desguerre, I., Barnerias, C., Mayer, M., Isapof, A., Estournet, B., Leturcq, F., Semplicini, C., Eymard, B., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

355

The use of a hand-held device (ASMA-1) for home-based monitoring of respiratory function changes in pediatric and adolescent patients with Duchenne muscular dystrophy

Meier, T., Rummey, C., Leinonen, M., Voit, T., Schara, U., Straathof, C., D'Angelo, M., Bernert, G., Cuisset, J., Finkel, R., Goemans, N., McDonald, C., Buyse, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

356

Impact of three decades of improvement in standards of care for Duchenne muscular dystrophy

Jimenez, C., Moreno,, Eagle, M., Mayhew, A., James, M., Straub, V., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

357

The value of the MOX accelerometer in measuring daily physical activity in children with mitochondrial disease

Koene, S., Dirks, I., van Mierlo, E., Janssen, A., Meijer, K., Essers, H., Smeitink, J., Bergsma, A., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

358

Immunohistochemical detection of HIF1-alpha distribution in muscle of children with different neuromuscular disorders

Sukhorukov, V., Baranich, T., Vinogradova, T., Klejmenova, N., Nevstrueva, V., Brydun, A., Shatalov, P., Glinkina, V., Artemyeva, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

359

Mitochondrial disorders with novel mutations – a study from a tertiary referral center in South India

Narayanappa, G., Govindraju, C., Bindu, P., Kothari, S., Taly, A., Nahid, K., Thangaraj, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

360

Phenotypic spectrum of patients with MERRF and mutations in the MTTK gene

Claeys, K., Altmann, J., Büchner, B., Nadaj-Pakleza, A., Lehmann, D., Schöls, L., Deschauer, M., Jackson, S., Schäfer, J., Lautenschläger, R., Kuhn, A., Schulz, J., Weis, J., Kornblum, C., Klopstock,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

361

Expanding the pathological phenotype in megaconial congenital muscular dystrophy

Haliloglu, G., Talim, B., Aktas, D., Alikasifoglu, M., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

362

Serum BAFF levels in patients with myasthenia gravis

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

363

Clinical characteristics of juvenile myasthenia gravis: A tertiary center experience

Lee, H., Shin, H., Kang, H., Kim, S., Lee, J., Kim, H., Il Nam, S., Lee, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

364

Changes in clinical condition and causes of death of inpatients with myotonic dystrophy in Japan

Saito, T., Takahashi, T., Kuru, S., Suzuki, M., Matsumura, T., Fujimura, H., Sakoda, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

365

Investigation of the sources of osteopontin required for normal regeneration of injured muscle

Wijesinghe, D.W., Mackie, E., Pagel, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

366

Clinical, histopathological and molecular aspects of glycogen storage disease type VII: A review of the UK experience

Godfrey, R., Scalco, R., Ellerton, C., Carruthers, R., Chatfield, S., Hansen, K., Michelson, J., Pattni, J., Holton, J., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

367

Spinal Muscular Atrophy-Lower Extremity Dominant (SMA-LED), with bilateral perisylvian polymicrogyria and infantile epileptic encephalopathy, due a novel DYNC1H1 mutation

Singh, J., Illingworth, M., Whitney, A., Konn, D., Foulds, N., Allen, D., Uglow, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

368

TRPV4 mutation causing dominantly inherited scapuloperoneal spinal muscle atrophy

Sanaker, P., Bindoff, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

369

High intensity training in patients with spinal and bulbar muscular atrophy

Heje, K., Andersen, G., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

370

Reference values for the three-minute walk test, North Star ambulatory assessment and timed tests in typically developing boys aged 2.5–5 years

Klingels, K., Van Verdegem, L., van den Hauwe, M., Buyse, G., Goemans, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

371

Clinical data and MRI findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations

Harris, E., Topf, A., McEntagart, M., Sewry, C., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

372

Cardiac involvement of sporadic inclusion body myositis detected by cardiac magnetic resonance imaging

Rosenbohm, A., Buckert, D., Kassubek, J., Rottbauer, W., Ludolph, A., Bernhardt, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

373

Experience with abatacept treatment in sporadic inclusion body myositis

Lindberg, C., Ewaldsson, A., Edofsson, U., Hammarén, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

374

Mitochondrial pathology in inclusion body myositis

Lindgren, U., Roos, S., Hedberg Oldfors, C., Moslemi, A., Lindberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

375

Unilateral tensor fascia lata muscle mass as a presentation of lumbosacral radiculopathy

Soltanzadeh, P., Pierce, B., Lietman, S., Ilaslan, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

376

Lethal multiple pterygium syndrome associated with mutations in the type 1 ryanodine receptor (RYR1)

Kariminejad, A., Ghaderi-Sohi, S., Hossein-Nejad Nedai, H., Varasteh, V., Tajsharghi, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

377

Therapeutic potential of adiponectin and adipoRon in Duchenne muscular dystrophy

Lecompte, S., Abou-Samra, M., Boursereau, R., Noel, L., Brichard, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

378

Early scoliosis surgery may prevent deterioration of respiratory function in Ullrich congenital muscular dystrophy

Kohashi, K., Ishiyama, A., Takeshita, E., Shimizu-Motohashi, Y., Saito, T., Nakagawa, E., Komaki, H., Sugai, K., Nishino, I., Saito, W., Takaso, M., Sasaki, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

379

Col6A2 null mice are a new mouse model of collagen-VI related dystrophies and relevant to the human disease

Mohassel, P., Rooney, J., Zou, Y., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

380

Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies

Sarkozy, A., Torelli, S., Barresi, R., Bertoli, M., Sframeli, M., Mein, R., Yau, M., Sewry, C., Phadke, R., Feng, L., Ala, P., Manzur, A., Bushby, K., Lochmüller, H., Willis, T., Norwood, F., Rakowicz

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 228 KB

english, 2015

381

Congenital muscular dystrophies in the UK population: Update of clinical and molecular spectrum of patients diagnosed over a 12-year period

Sframeli, M., Sarkozy, A., Bertoli, M., Astrea, G., Hudson, J., Scoto, M., Mein, R., Yau, M., Phadke, R., Feng, L., Sewry, C., Robb, S., Manzur, A., Messina, S., Bushby, K., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

382

TREAT-NMD (translational research in Europe, assessment and treatment for neuromuscular disorders)

Aartsma-Rus, A., Hoffman, E., Bucella, F., Flanigan, K., Kirschner, J., Kole, A., Mercuri, E., Nishino, I., North, K., Pereda Alonso, A., Rahbek, J., Sejersen, T., Wood, M., Lynn, S., Robertson, A., L

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

383

Surgical correction of scoliosis in patients with congenital myopathies

Trucco, F., Andaloro, A., Pedemonte, M., Lanzillotta, V., Panicucci, C., Fiorillo, C., Becchetti, F., Minetti, C., Bruno, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

384

Late-onset congenital myopathies: Clinical and molecular features

Maggi, L., Colombo, I., Fattori, F., Fiorillo, C., Vita, G., Magri, F., Pane, M., D'Amico, A., Bernasconi, P., Mora, M., Messina, S., Santorelli, F., Mercuri, E., Bertini, E., Pegoraro, E., Comi, G.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

385

Congenital myopathies: Characteristics and subtypes in Hong Kong

Chan, S., Ho, R., Chan, A., Ip, J., Wong, S., Ng, G., Lee, H., Cheng, Y., Liu, K., Lee, C., Fung, T., Cherk, W., Chan, S., Lam, W., Shek, W., Wong, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

386

Muscle MRI findings in myopathies due to FHL1 mutation

Mohassel, P., Donkervoort, S., Dastgir, J., Munell, F., Sanchez, A., Haverlova, J., Manzur, A., Quijano-Roy, S., Tasca, G., Udd, B., Muntoni, F., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

387

The FINmaj mutation in TTN induces the loss of several protein domains from titin C-terminus

Vihola, A., Charton, K., Sarparanta, J., Jonson, P., Richard, I., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

388

Mutations in the EF hands of STIM1 lead to different clinical severity

Dionnet, E., Tsvetkov, P., Gorokhova, S., Maues de Paula, A., Devred, F., Krahn, M., Bartoli, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

389

Muscle imaging in STIM1-mutated tubular aggregate myopathy patients

Tasca, G., D'Amico, A., Monforte, M., Nadaj-Pakleza, A., Vialle, M., Fattori, F., Vissing, J., Ricci, E., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

390

NHE1 inhibition as a potential therapeutic strategy to attenuate DMD pathology

Ioannou, P., Burki, U., Laval, S., Schaefer, S., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 221 KB

english, 2015

391

Muscle MRI correlates with histology and clinical features in patients with FSHD, OPMD and sIBM

Lassche, S., Schyns, M., Koster, N., Heskamp, L., Heerschap, A., Kusters, B., Voermans, N., van Engelen, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

392

Use of next generation exome sequencing for the diagnosis of patients with pediatric neuromuscular disorders

Munell, F., Ferrer, S., Sánchez-Montáñez, A., Martínez-Sáez, E., Gractacós, M., Pérez, M., Cuenca, E., Roig-Quilis, M., Olivé, M., Vidal, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

393

Strategies for engaging the Duchenne muscular dystrophy community in research

Clemens, P., Morgenroth, L., Clinard, K., Bendixen, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

394

Interaction between brain neuronal circuits of the face recognition memory area and the auditory memory area in Duchenne muscular dystrophy patients

Secaf, A., Martins, J., Sawan, M., Godoy, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

395

A new method to determine muscle and movement action during daily activities in patients with neuralgic amyotrophy

Cup, C., Bergsma, A., de Groot, I., Ijspeert, J., Janssen, R., Groothuis, J., van Alfen, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

396

Antisense strategies targeting DUX4 and DUX4c as therapeutic approaches for facioscapulohumeral muscular dystrophy (FSHD)

Vanderplanck, C., Tassin, A., Ansseau, E., Lancelot, C., Derenne, A., Conotte, S., Dudome, V., Leroy, B., Wilton, S., Laoudj-Chenivesse, D., Wattiez, R., Legrand, A., Belayew, A., Coppée, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

397

Correlation between low FAT1 expression and early affected muscle in FSHD

Mariot, V., Roche, S., Hourdé, C., Portilho, D., Sacconi, S., Puppo, F., Duguez, S., Rameau, P., Caruso, N., Delezoide, A., Desnuelle, C., Bessières, B., Collardeau, S., Feasson, L., Maisonobe, T., Ma

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

398

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Mercuri, E., Finkel, R., Montes, J., Mazzone, E., Main, M., Ramsey, D., Mayhew, A., Glanzman, A., Pasternak, A., Pane, M., Pera, M., Scoto, M., Messina, S., Vita, G., D'Amico, A., Darras, B., Bertini,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

399

A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy

Arakawa, M., Arakawa, R., Aoki, R., Nomoto, A., Saito, K., Shibasaki, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

400

Revised Hammersmith scale for spinal muscular atrophy

Ramsey, D., Scoto, M., Mayhew, A., Main, M., Wilson, I., Mazzone, E., Montes, J., Dunaway, S., Pasternak, A., Salazar, R., Bushby, K., Finkel, R., Mercuri, E., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

401

Transduce: Multidisciplinary out-patient transition in adolescents and young adults with Duchenne muscular dystrophy

Groothuis, J., Hijdra, H., Erasmus, C., Raaphorst, J., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

402

Reduced fatty acid oxidation capacity during exercise in patients with carnitine transporter deficiency

Madsen, K., Preisler, N., Rasmussen, J., Petersen, G., Olesen, J., Lund, A., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

403

Familial MuSK antibody positive myasthenia gravis

Ekmekci, O., Yuceyar, A., Karasoy, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

404

Acetylcholine receptor and titin antibody in Chinese myasthenia gravis patients

Hong, Y., Li, H., Skeie, G., Gilhus, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

405

Clinical profile of congenital myotonic dystrophy

Tian, C., Bange, J., Rybalsky, I., Wong, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

406

The FSHD-related protein µ-crystallin controls metabolic and contractile properties in skeletal muscle

Seko, D., Hisamatsu, T., Fujita, R., Yoshioka, K., Urata, Y., Goto, S., Li, T., Taimura, A., Ono, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

407

Characterization of syndecan-4-dependent signalling events during myoblast proliferation

Keller-Pinter, A., Kocsis, T., Ocsovszki, I., Dux, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

408

The muscle environment affects the capacity of human myogenic progenitor cells to regenerate skeletal muscle and to reconstitute the satellite cell pool

Meng, J., Bencze, M., Asfahani, R., Muntoni, F., Morgan, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

409

Determinants to predict upper extremity function in boys and men with DMD

Janssen, M., Hendriks, J., Geurts, A., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

410

A latent factor-based composite timed motor performance index representing mobility is sensitive to stage of disease and 1-year progression in Duchenne muscular dystrophy

Henricson, E., Abresch, R., Goude, E., Nicorici, A., deBie, E., McDonald, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

411

CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy

Van Ghelue, M., Wahl, C., Arntzen, K., Loseth, S., Bindoff, L., Sveberg, L., Rosby, O., Popperud, T., Rasmussen, M., Halvorsen, H., Lindal, S., Jonsrud, C., Orstavik, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 227 KB

english, 2015

412

Psychometric evaluation of the sporadic inclusion body myositis (sIBM) physical functioning assessment (sIFA)

Williams, V., Coles, T., DeMuro, C., Lewis, S., Williams, N., Yarr, S., Barghout, V., Lowes, L., Alfano, L., Goldberg, B., Gnanasakthy, A., Capkun, G., Tseng, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

413

Muscular dystrophy (mdx) mice with enhanced voluntary exercise: Mining genetic modifiers

Messineo, A., Chidambaram, R., McNamara, E., Manship, G., Wallace, A., Murray, C., Mehta, M., Nguyen, Q., Ram, R., Laing, N., Morahan, G., Nowak, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

414

Mild course in atypical Duchenne muscular dystrophy patients is not caused by utrophin overexpression

Vainzof, M., Feitosa, L., Canovas, M., Pavanello, R., Zatz, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

415

Biomarker development to support the clinical development of utrophin modulators for Duchenne muscular dystrophy therapy

Tinsley, J., Janghra, N., Morgan, J., Sewry, C., Muntoni, F., Elsey, D., Wilson, F., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

416

Nonsense mutation dystrophinopathy: How mutation-specific treatments changed our clinical practice?

Ardicli, D., Konuskan, B., Haliloglu, G., Alikasifoglu, M., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

417

Mutation spectrum of the dystrophin gene in 507 Korean Duchenne/Becker muscular dystrophy patients

Ryu, H., Cho, A., Seong, M., Park, S., Lee, J., Lim, B., Kim, K., Hwang, Y., Chae, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

418

RYR1-related exertional rhabdomyolysis: Expanding spectrum and diagnostic challenges

Gardiner, A., Scalco, R., Parton, M., Hanna, M., Pitceathly, R., Zanoteli, E., Murphy, E., Treves, S., Houlden, H., Wilmshurst, J., Straub, V., Hilton-Jones, D., Voermans, N., Manzur, A., Oflazer, P.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 224 KB

english, 2015

419

Development of Rimeporide, a sodium-hydrogen exchanger (NHE-1) inhibitor, for patients with Duchenne muscular dystrophy

Porte-Thomé, F., Nagaraju, K., Yu, Q., Tatem, K., Bkaily, G., Scholz, W., Slade, A., Bot, N., Kant, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

420

Comparison of upper extremity measures in individuals with COL6 and LAMA2-muscular dystrophies

Jain, M., Meilleur, K., Nichols, C., Waite, M., Parks, R., Hodsdon, B., Bendixen, R., Hsia, N., Glanzman, A., Nelson, L., Keller, K., Duong, T., McGuire, M., Dastgir, J., Donkervoort, S., Leach, M., C

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

421

Validation of actiGraph GT3X accelerometers in collagen 6-related muscular dystrophy and LAMA2-related muscular dystrophy

Meilleur, K., Elliott, J., Linton, M., Vuillerot, C., Bendixen, R., Arveson, I., Tounkara, F., Waite, M., Nichols, C., Yang, K., Donkervoort, S., Dastgir, J., Leach, M., Bönnemann, C., Jain, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 227 KB

english, 2015

422

The TREAT-NMD Advisory Committee for Therapeutics (TACT): An innovative de-risking model to foster orphan drug development

Wells, D., Heslop, E., Csimma, C., Straub, V., McCall, J., Nagaraju, K., Wagner, K., Caizergues, D., Korinthenberg, R., Flanigan, K., Mendell, J., Kelly, M., Kaufmann, P., McNeil, E., Robertson, A., J

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

423

Evaluating the benefits of community based aerobic training on the physical health and well-being of people with neuromuscular diseases: A pilot study

Wallace, A., Dewar, L., Pietrusz, A., Dudziec, M., Sterr, A., Laura, M., Skorupinska, I., Skorupinska, M., Hanna, M., Trenell, M., Baio, G., Reilly, M., Ramdharry, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 223 KB

english, 2015

424

Peripheral vein injection of AAV8-MTM1 leads to long-term survival and correction of severe muscle pathology in a canine model of X-linked myotubular myopathy: Results from a dose escalation study

Mack, D., Poulard, K., Goddard, M., Snyder, J., Grange, R., Doering, J., Strande, J., Latournerie, V., Veron, P., Yang, L., Buscara, L., Le Bec, C., Martin, S., O'Callaghan, M., Mingozzi, F., Beggs, A

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

425

Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study

R'guiba, N., Annoussamy, M., Cardas, R., Lilien, C., Ollivier, G., Muntoni, F., Bönnemann, C., Biancalana, V., Cuisset, J., Mayer, M., Landy, H., Ramsdell, D., Nelken, M., Le Moing, A., Gidaro, T., Mi

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

426

Coexisting TIA1 and MYH7 distal myopathy

Brand, P., Dyck, P., Liu, J., Berini, S., Selcen, D., Milone, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

427

Comparison of two clinical motor scales in individuals with giant axonal neuropathy (GAN)

Waite, M., Bharucha-Goebel, D., Moulton, T., Zampieri, C., Nichols, C., Alter, K., Averion, G., Donkervoort, S., Leach, M., Dastgir, J., Mohassel, P., Jain, M., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

428

The mdx5Cv dystrophic mouse: In depth longitudinal phenotyping

Dorchies, O., Gayi, E., Ismail, H., Neff, L., Patthey-Vuadens, O., Scapozza, L., Ruegg, U.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

429

DMD registry in Turkey: Highlights

Topaloğlu, H., Haliloglu, G., Yilmaz, O., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

430

Health related quality of life in European adults with DMD: Results from the Care-NMD-project

Steffensen, B., Otto, C., Werlauff, U., Rahbek, J., Hoejberg, A., Kirschner, J., Vry, J., Gramsch, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

431

Physical activity in boys with DMD is lower and less demanding compared to healthy boys

Heutinck, L., van Kampen, N., Jansen, M., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

432

Implantable cardioverter defibrillator for cardiac resynchronisation therapy in Duchenne muscular dystrophy: A case study

Kulshrestha, R., Morley-Davies, A., Willis, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

433

Contribution of IL-6-dependent signalling mechanism to upregulation of MyHC IIb mRNA but not of MyHC IIa mRNA in mouse myocytes

Yamaji, J., Mori, Y., Hiroshima, R., Watanabe, M., Miyazaki, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

434

Wrist-worn accelerometer as innovative tool for longitudinal follow-up of idiopathic inflammatory myopathy patients: A pilot study

Allenbach, Y., Foucher, A., Champtiaux, N., Gilardin, L., Hervier, B., Benveniste, O., Hogrel, J.Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

435

Reducing dynamin 2 rescues a severe congenital myopathy in mice

Cowling, B., Prokic, I., Chevremont, T., Kretz, C., Ferry, A., Coirault, C., Laugel, V., Romero, N., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

436

Associate Professor Nigel Clarke PhD, MBChB, FRACP (1966–2015)

Laing, Nigel, North, Kathryn

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 464 KB

english, 2015

437

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

438

Table of location of abstract topics

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 273 KB

english, 2015

439

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 38 KB

english, 2015

440

Author Index (Please note that * indicates the presenting author)

Journal:

Neuromuscular Disorders

Year:

2015

File:

PDF, 325 KB

2015

441

A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy

Malfatti, E., Böhm, J., Lacène, E., Romero, N., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

442

The impact of enzyme replacement therapy on the progression of Pompe disease

De Antonio, M., Hamroun, D., Perniconi, B., Taouagh, N., Salort-Campana, E., Sacconi, S., Zagnoli, F., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

443

Childhood Pompe disease: Clinical spectrum and genotype in 31 children

van Spronsen, F., Jaeken, J., Rubio-Gozalbo, M., van der Meijden, J., Willemsen, M., Baethmann, M., Lachmann, R., van Capelle, C., Mengel, E., Voit, T., Michelakakis, H., van der Hout, J., Reuser, A.,

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

444

Perspective from spinal muscular atrophy families: Care of a child with tracheostomy and home mechanical ventilatory support

Tanyildiz, M., Topaloğlu, H., Oncel, I., Bayrakci, B., Haliloglu, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

445

MRI-derived apparent fat fractions in the thigh muscles of ambulant boys with Duchenne muscular dystrophy in a double blind clinical trial of drisapersen

Bishop, C., Newbould, R., Quartel, A., Hall, A., Campion, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

446

Addressing discrepancies in care with the certified Duchenne care center program

Kinnett, K., Mendel, J., Dowling, J., Wagner, E., Cripe, L., Apkon, S., Shell, R., Finkel, R., Nelson, S., Matthews, D., Porter, J., Furlong, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

447

Improving the care of New Zealanders with Duchenne muscular dystrophy

Rodrigues, M., Patel, R., Roxburgh, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

448

Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?

Soares de Moura, M., Wutski, H., Voos, M., Resende, M., Reed, U., Hasue, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

449

Acylcarnitine profiles in mitochondrial myopathies

Vissing, C., Christensen, M., Dunø, M., Wibrand, F., Olesen, J., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

450

A single center analysis of the clinicopathological findings of anti-cytosolic 5′-nucleotidase 1a antibody-positive sporadic inclusion body myositis

Tawara, N., Yamashita, S., Nishikami, T., Nakajou, Y., Doki, T., Matsuo, Y., Yonemochi, Y., Maeda, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

451

Neuromuscular patients: Complaints are unrelated to disease

Forbes, J., Riolfi, C., Macedo, E., Genesini, T., Mouzat, A., Rüdiger, D., Achôa, G., Andrade, H., Lise, L., Fachinetto, L., Vianna, M., Pavanello, R., Zatz, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

452

Vasculopathy as a major marker of severity in juvenile dermatomyositis

Gitiaux, C., De Antonio, M., Aouizerate, J., Gherardi, R., Guilbert, T., Barnerias, C., Bodemer, C., Brochard-Payet, K., Quartier, P., Musset, L., Chazaud, B., Desguerre, I., Bader-Meunier, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

453

The gross motor function measure is a valid scale for assessing Fukuyama congenital muscular dystrophy

Sato, T., Ishigaki, K., Zushi, M., Adachi, M., Goto, K., Akiduki, M., Ishiguro, K., Shichiji, M., Murakami, T., Saito, K., Osawa, M., Ikai, T., Kondo, I., Nagata, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

454

Oculopharyngodistal myopathy in a Korean family

Shin, J., Kim, D., Lee, K., Sung, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

455

Neuropathological findings from a human post mortem case of distal hereditary motor neuropathy (dHMN) due to p.Ser135Phe HSPB1 mutation and transgenic mice with mutant or wild-type HSP27 overexpression

Phadke, R., Rossor, A., Benoy, V., Kalmar, B., King, R., Greensmith, L., Bosch, L., Reilly, M., Houlden, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

456

NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Turner, C., Brice, A., Bushby, K., Riess, O., Hanna, M., van Ommen, G., Muntoni, F., Klockgether, T., Wirth, B., Lochmüller, H., Timmerman, V., Schoells, L., Straub, V., Tabrizi, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

457

Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies

Nelson, I., BenYaou, R., Nectoux, J., Masson, C., Leturq, F., Richard, P., Stojkovic, T., Behin, A., Laforêt, P., Allamand, V., Eymard, B., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

458

Efficacy of next-generation sequencing in molecular diagnosis of archived DNA samples

Beecroft, S., Ong, R., Yau, K., Duff, R., Allcock, R., Davis, M., Lamont, P., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

459

Targeted next-generation sequencing approach for molecular diagnosis of inherited muscular disorders

Park, H., Lee, J., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

460

Filling in the gap between exome and genome: mRNA analysis as a clinical diagnosis tool

Gonorazky, H., Yoon, G., Sabha, N., Tsuchiya, E., Amburgey, K., Marshall, C., Dowling, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

461

Vitamin D in corticosteroid treated Duchenne muscular dystrophy: What dose achieves serum 25OH vitamin D sufficiency?

Alshaikh, N., Brunklaus, A., Davis, T., Robb, S., Quinlivan, R., Munot, P., Sarkozy, A., Muntoni, F., Manzur, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

462

Five-year longitudinal UC Davis CINRG Duchenne Natural History Study (DNHS) data show mobility-focused POSNA PODCI items are sensitive to 12-month disease progression across all stages of DMD functional ability

Henricson, E., McDonald, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

463

Mastication problems in Duchenne muscular dystrophy caused by dystrophic changes of the masseter muscle and abnormal dental characteristics

van den Engel-Hoek, L., Hijdra, H., de Groot, S., Sie, L., Erasmus, C., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

464

Ankle-foot orthoses in Duchenne muscular dystrophy

Mattiello-Sverzut, A., Souza, M., Baptista, C., Figueiredo, M., Alvades, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

465

Incidence of neuralgic amyotrophy (Parsonage–Turner syndrome) in a primary care setting: A prospective cohort study

van Alfen, N., Groothuis, J., Nobacht, E., Ennik, T., Flynn, S., Pillen, S., van Eijk, J., van de Laar, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

466

Differential isoform expression and selective muscle involvement in muscular dystrophies

Hackman, P., Huovinen, S., Penttilä, S., Keto, J., Somervuo, P., Auvinen, P., Vihola, A., Pelin, K., Raheem, O., Suominen, T., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

467

Reveglucosidase alfa (BMN 701), a GILT-tagged recombinant human acid alpha glucosidase (rhGAA), evaluation in late-onset Pompe disease: Preliminary clinical efficacy and safety results of an extension study (72-week results)

Hiwot, T., Barohn, R., Bratkovic, D., Byrne, B., Desnuelle, C., Hughes, D., Laforêt, P., Mengel, E., Roberts, M., Yang, K., Heusner, C., Dummer, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

468

Blood film examination for vacuolated and PAS-positive lymphocytes as diagnostic screening test for patients with late onset Pompe disease (LOPD)

Toscano, A., Parisi, D., Montagnese, F., Marino, M., Migliorato, A., Ciranni, A., Rodolico, C., Musumeci, O.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

469

Computerized quantification of facial weakness in facioscapulohumeral muscular dystrophy

Mul, K., van de Leemput, S., Horlings, C., Beurskens, C., Knuijt, S., Padberg, G., Voermans, N., Grootjen, F., van Engelen, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

470

Effects of auto-antibodies anti-signal recognition particle (SRP) and anti-hydroxymethylglutaryl-CoA reductase (HMGCR) on muscle cells

Arouche-Delaperche, L., Butler-Browne, G., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

471

Zebrafish models of inherited skeletal muscle disorders

Patrick, J., Wali, N., Sealy, I., Collins, J., Busch-Nentwich, E., Stemple, D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

472

Normative aerobic exercise values in CMT

Wallace, A., Dewar, L., Sterr, A., Hanna, M., Trenell, M., Pietrusz, A., Dudziec, M., Hennis, P., Stokes, R., Reilly, M., Ramdharry, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 223 KB

english, 2015

473

A novel form of CAP myopathy in absence of heart disease associated with recessive TTN gene mutations

Jou, C., Ortez, C., Jimenez-Mallebrera, C., Romero, N., Bouchier, G., Fernández-Marmiesse, A., Couce, M., Carrascosa-Romero, M., Blancas, A., Ribalta, T., Colomer, J., Nascimento, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 213 KB

english, 2015

474

Enhancement of myosin heavy chain class I (MHC I) mRNA expression in C2C12 myocyte by multivalent cations

Mori, Y., Yamaji, J., Hiroshima, R., Nakano, T., Watanabe, M., Miyazaki, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

475

Signaling pathways and modifiers in cardiac function in muscular dystrophy

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

476

Simvastatin improves physiological function and protects against muscle degeneration in mdx mice: A novel therapeutic approach for Duchenne muscular dystrophy

Whitehead, N., Kim, M., Bible, K., Adams, M., Froehner, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

477

Cytokine and chemokine profiling shows rapid activation of the immune system following enzyme replacement therapy in Pompe disease

Masat, E., Laforêt, P., Amelin, D., Veron, P., Perniconi, B., Taouagh, N., Benveniste, O., Mingozzi, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

478

An international, phase 3, switchover study of reveglucosidase alfa (BMN 701) in subjects with late-onset Pompe disease

Schoser, B., Byrne, B., Eyskens, F., Hiwot, T., Hughes, D., Kissel, J., Mengel, E., Mozaffar, T., Pestronk, A., Roberts, M., Sivakumar, K., Statland, J., Young, P., Heusner, C., Dummer, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

479

Idiopathic intracranial hypertension requiring a lumbar-peritoneal shunt in a child with Duchenne muscular dystrophy on daily steroids

Willis, T., Kulshrestha, R., Alhaswani, Z.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

480

Mutations in iron–sulfur cluster assembly gene IBA57 cause progressive cavitating leukoencephalopathy

Ishiyama, A., Sakai, C., Endo, Y., Mitsuhashi, S., Noguchi, S., Matsushima, Y., Hayashi, Y., Komaki, H., Sugai, K., Sasaki, M., Nonaka, I., Goto, Y., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

481

Phenotype analysis of transgenic mice expressing mutant PABPN1

Doki, T., Yamashita, S., Nishikami, T., Nakajou, Y., Matsuo, Y., Tawara, N., Maeda, Y., Hino, H., Uyama, E., Araki, K., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

482

ACE-2494, a novel GDF ligand trap, increases muscle and bone mass upon systemic administration in mice

Pearsall, R., Sako, D., Liu, J., Davies, M., Heveron, K., Castonguay, R., Krishnan, L., Troy, M., Liharska, K., Steeves, R., Cannell, M., Alimzhanov, M., Grinberg, A., Kumar, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

483

Influence of mesenchymal stem cell on STAT signalling pathway in muscle satellite cell

Nakajou, Y., Maeda, Y., Yonemochi, Y., Doki, T., Tawara, N., Yamashita, S., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

484

A new family with autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS)

Palmio, J., Penttilä, S., Moilanen, J., Kärppä, M., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

485

Probable high prevalence of limb-girdle muscular dystrophy type 2D in the aboriginal tribes settled in southern Taiwan

Liang, W., Chou, P., Kan, T., Su, Y., Hayashi, Y., Nishino, I., Jong, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

486

Prognostic features of LGMD presenting as symptomatic or paucisymptomatic hyperCKemia

Marti, P., Muelas, N., Jaka, O., Mayordomo, F., Azorin, I., Lopez de Munain, A., Gallano, P., Vilchez, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

487

Quantifiable diagnosis of neuromuscular diseases through network analysis

Rivas, E., Sáez, A., Montero-Sánchez, A., Paradas, C., Acha, B., Pascual, A., Serrano, C., Escudero, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 198 KB

english, 2015

488

Quantifying dystrophin in cell culture: A method to accelerate preclinical assessment of DMD treatments

Ruiz-Del-Yerro, E., García, I., Arechavala-Gomeza, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

489

Myofibrillar myopathies – An expanding spectrum of disorders

Narayanappa, G., Rashmi, S., Nalini, A., Taly, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

490

POMGNT2 mutations are associated with milder forms of limb girdle muscular dystrophy

Endo, Y., Noguchi, S., Dong, M., Ogawa, M., Hayashi, Y., Kuru, S., Sugiyama, K., Nagai, S., Ozasa, S., Nonaka, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

491

Late-onset zebra body myopathy

Pehl, D., Radke, J., Irlbacher, K., Heppner, F., Goebel, H., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

492

Late-onset mild myopathy with protein aggregates in two transgenic mouse models of FHL1

Rooney, J., Zou, Y., Cowling, B., Mitchell, C., Bönnemann, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

493

Skeletal muscle tissue characterization by 23Na NMRS under different vascular filling conditions

Marty, B., Gerhalter, T., Araujo, E., Giacomini, E., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

494

Overview of morbidity, mortality and survival in Duchenne muscular dystrophy in the North East of England

Marini Bettolo, C., van Ruiten, H., Guglieri, M., Eagle, M., Straub, V., Lochmüller, H., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 212 KB

english, 2015

495

Acute myopathy as a manifestation of neuromyelitis optica

So-Young, H., Kim, S., Park, Y., Kim, D., Kim, H., Kim, J., Shin, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

496

Neuropsychological correlates of brain perfusion SPECT abnormalities in patients with macrophagic myofasciitis

Van der Gucht, A., Aoun Sebati, M., Itti, E., Aouizerate, J., Bachoud, A., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

497

Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy

Bosco, G., Diamanti, S., Meola, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 435 KB

english, 2015

498

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

499

Identification and characterization of aberrant splicing in Pompe disease using a genetic approach

Pijnappel, W., Bergsma, A., van der Ploeg, A., Hoogeveen-Westerveld, M., Halley, D., Kroos, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

500

The evaluation of bone age in patients with Duchenne muscular dystrophy on long-term glucocorticoid treatment

Annexstad, E., Westvik, J., Myhre, A., Bollerslev, J., Holm, I., Rasmussen, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

501

Longitudinal quantitative muscle magnetic resonance imaging (qMRI) in five boys with Duchenne muscular dystrophy (DMD), on and off treatment with drisapersen

Hooijmans, M., Wokke, B., Goemans, N., Campion, G., Verschuuren, J., Kan, H., Niks, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

502

MitoScale: A pre-diagnostic screen for the likelihood of mitochondrial disease in adult patients

Liang, C., Edema-Hildebrand, F., Sue, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

503

High expression and therapeutic efficacy of systemic delivery of a dual AAV strategy in a murine model for dysferlin deficiency

Pryadkina, M., Roudaut, C., Charton, K., Lostal, W., Hirsch, M., Bourg, N., Richard, I., Lostal, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

504

Description of muscle strength in a Brazilian sample of limb-girdle muscular dystrophy 2A (calpainopathy)

Voos, M., Marim, J., Anequini, I., Favero, F., Carmo, A., Oliveira, A., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

505

Late-onset limb-girdle muscular dystrophy caused by GMPPB-mutation

Balcin, H., Palmio, J., Nennesmo, I., Solders, G., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

506

Ischemic inflammatory myopathy with microangiopathy in Fabry disease

Benistan, K., Carlier, R., Echevarria, L., Quijano-Roy, S., Germain, D., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

507

The floppy infants: Clinical experience in tertiary centers for the past 10 years

Lee, H., Lee, Y., Kang, H., Lee, J., Kim, H., Lee, S., Park, M., Namkung, R., Lee, J., Chung, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

508

Choosing the “best” animal model for pre-clinical trials of autoimmune myasthenia gravis

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

509

Brain metabolite concentrations in Duchenne muscular dystrophy are unaltered compared to controls

Doorenweerd, N., Niks, E., Straathof, C., Webb, A., Hendriksen, J., Verschuuren, J., van Buchem, M., Kan, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

510

CAT-1004, an oral agent targeting NF-κB in development for treatment of Duchenne muscular dystrophy: Phase 1/2 study design

Donovan, J., Sweeney, H., Vandenborne, K., Russman, B., Jirousek, M., Finkel, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

511

HT-100: Interim safety, pharmacokinetics, and pharmacodynamic data in DMD boys

Escolar, D., Blaustein, M., Bush, E., Wagner, K., Wong, B., Flanigan, K., Han, J., Britton, A., Loewy, J., Dykstra, K., Connolly, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

512

Developing digital tools for improving patient and family engagement in paediatric clinical research

Veldhuizen, O., Turner, C., Hails, M., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

513

ScanBank – The development of an online database for neuromuscular MRI scans

Veldhuizen, O., Wood, C., Murphy, A., Thompson, R., Steen Krogh, N., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

514

Paraspinal fat infiltration in healthy adults with aging

Dahlqvist, J., Vissing, C., Hedermann, G., Thomsen, C., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

515

Dynamic pedobarography assessment in children and adolescent with Charcot–Marie–Tooth disease

Mattiello-Sverzut, A., Nascimento-Elias, A., Baptista, C., Calori, P., Garcia, B., Sartor, C., Sacco, I., Marques, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

516

Nemaline myopathy: Next generation sequencing (NGS) significantly improving the molecular classification of Brazilian families

Gurgel-Giannetti, J., Lazar, M., Pavanello, R., Concentino, E., Fernandes, F., Sampaio, G., Zatz, M., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

517

Genetic profiles in patients with nemaline myopathy

Lee, J., Jang, H., Kim, S., Shin, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

518

Neuromuscular synapse characteristics of mice with low dystrophin levels

van der Pijl, E., van Putten, M., Verschuuren, J., Aartsma-Rus, A., Plomp, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

519

Effects of ready-to-use compounds with different actions on mechano-sensitive oxidative stress in exercised mdx mice

Mantuano, P., Cozzoli, A., Capogrosso, R., Massari, A., De Benedictis, L., Montagnani, M., Camerino, G., Giustino, A., De Luca, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

520

Quantitative MRI and MRS detect alterations in muscle quality in both congenital muscular dystrophy and Duchenne muscular dystrophy

Willcocks, R., Triplett, W., Lott, D., Forbes, S., Dastgir, J., Bönnemann, C., Vandenborne, K., Walter, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

521

Caveolinopathy presenting with muscle pain and rhabdomyolysis

Scalco, R., Gardiner, A., Pitceathly, R., Turner, C., Parton, M., Fialho, D., Hanna, M., Houlden, H., Holton, J., Manzur, A., Lucy, F., Hilton-Jones, D., Schapira, A., Murphy, E., Barresi, R., Jungblu

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

522

Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy

Neri, M., Scotton, C., Scapoli, C., Carrieri, A., Di Raimo, F., Bovolenta, M., Gherardi, S., Armaroli, A., Passarelli, C., D'Amico, A., Bertini, E., Pane, M., Mercuri, E., Pesole, G., Wenyan, L., Ming

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

523

New targets to control skeletal muscle inflammation: MicroRNAs regulated by adiponectin

Boursereau, R., Abou-Samra, M., Lecompte, S., Deprez, C., Noël, L., Brichard, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 215 KB

english, 2015

524

A pre-clinical model of LGMD1D/DNAJB6 associated muscle disease: Expanding the role of HSP chaperones in skeletal muscle

Weihl, C., Pittman, S., True, H., Bengochea, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

525

Epicatechin enhances mitochondrial biogenesis, increases dystrophin and utrophin, increases follistatin while decreasing myostatin, and improves skeletal muscle exercise response in adults with Becker muscular dystrophy (BMD)

McDonald, C., Henricson, E., Oskarsson, B., Aguilar, C., Nicorici, A., Joyce, N., Reddy, D., Wagner, A., deBie, E., Goude, E., Abresch, R., Villareal, F., Perkins, G., Hathout, Y., Dugar, S., Schreine

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 225 KB

english, 2015

526

Development of LNA gapmer oligonucleotide based therapy for FTD/ALS caused by the C9orf72 repeat expansion

Aoki, Y., Raquel, M., Lee, Y., Douglas, A., Aoki, M., Varela, M., Sathyaprakash, C., Mutihac, R., Talbot, K., Wood, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

527

Sparing of the extraocular muscles in mdx mice with absent or reduced utrophin expression: A life span analysis

McDonald, Abby A., Hebert, Sadie L., McLoon, Linda K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 6.29 MB

english, 2015

528

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

529

Muscle disorders of glycogen metabolism associated with GYG1 and RBCK1 deficiency

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

530

Vaginal birth in a patient with Pompe disease

Perniconi, B., Vauthier-Brouzes, D., Morelot-Panzini, C., Dommergues, M., Nizard, J., Taouagh, N., Servais, L., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

531

Proactive, reactive and palliative approaches to care for pediatric patients with SMA1: A retrospective analysis

Shellenbarger, K., Wong, B., Rybalsky, I., Sawnani, H., Amin, R., Godshall, B., Sturm, P., Inge, T., Weidner, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

532

Revised Hammersmith scale for spinal muscular atrophy: Inter and intra-rater reliability and content validity from a patient perspective

Ramsey, D., Scoto, M., Mayhew, A., Ramdharry, G., Wallace, A., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

533

Low ovarian reserve in girls with autosomal-recessive proximal spinal muscular atrophies type I–III

Koelbel, H., Hauffa, B., Boukidis, A., Lutz, S., Della-Marina, A., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

534

Musculoskeletal function in children with Barth syndrome

Steward, C., Vijayakumar, K., Love, S., Toms, B., Majumdar, A., Badger, S., Goodman, D., Kurian, K., Markham, L., Jones, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

535

Perinatal complications in patients with congenital myotonic dystrophy

Shichiji, M., Ishigaki, K., Ishiguro, K., Sato, T., Murakami, T., Muto, A., Osawa, M., Nagata, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

536

Sodium valproate for McArdle disease (glycogen storage disease type V – GSDV)

Scalco, R., Vissing, C., Godfrey, R., Chatfield, S., Løkken, N., Madsen, K., Pattni, J., Michalak, Z., Sewry, C., Fox, Z., McKenna, G., Samandouras, G., Holton, J., Howell, J., Haller, R., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 229 KB

english, 2015

537

Elucidation of the mechanism of disease in DYNC1H1-associated motor neuron disease and potential therapeutic targets

Yang, M., Kearns, C., McGonagle, E., Appel, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 223 KB

english, 2015

538

Rimmed vacuoles are positive for RIPK1 and RIPK3

Kurashige, T., Morino, H., Nagano, Y., Maruyama, H., Matsumoto, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

539

Atypical presentation of childhood-onset inflammatory myositis: Report of three cases

van der Kooi, A., Jaeger, B., Aronica, E., de Visser, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

540

Identification of novel therapy-responsive protein biomarkers for Duchenne muscular dystrophy by aptamer-based serum proteomics

Coenen-Stass, A., McClorey, G., Manzano, R., Betts, C., Blain, A., Saleh, A., Gait, M., Lochmüller, H., Gold, L., Wood, M., Roberts, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

541

Investigating the pathobiology of myofibrillar myopathies and potential therapies using zebrafish

Ruparelia, A., Oorschot, V., Ramm, G., Bryson-Richardson, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

542

Non-invasive NMR study of the mouse model for centronuclear myopathy with mutation in the dynamin-2 gene

Martins Bach, A., Matot, B., Wary, C., Bitoun, M., Vaizof, M., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

543

Targeted next-generation sequencing reveals novel TTN mutations causing recessive distal titinopathy

Evilä, A., Penttilä, S., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

544

Gait variability during prolonged walking in children and adolescents with Charcot–Marie–Tooth disease

Kennedy, R., Carroll, K., Ryan, M., McGinley, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

545

Early expression of ΔCH1 dystrophin isoform reverses or prevents muscular dystrophy in the Dup2 mouse

Wein, N., Vulin, A., Simmons, T., Molza, A., Gumienny, F., Huang, N., Delalande, O., Ervasti, J., Weiss, R., Flanigan, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

546

Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

Turner, C., Bushby, K., Johnston, L., Lochmüller, H., Riess, O., Wirth, B., Straub, V., Thompson, R., van Ommen, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

547

A prospective natural history study to measure progression of physical impairment, activity limitation and quality of life in Duchenne muscular dystrophy

Goemans, N., Wong, B., McDonald, C., Mason, C., Hall, A., Campion, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

548

Does an inability to achieve plantargrade at the ankle joint have an impact on the outcome measures of the six minute walking test and North Star ambulatory assessment; and is this further compounded by illio-tibial band tightness?

Butler, J., Main, M., Eagle, M., Decostre, V., Ricotti, V., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

549

Natural history of respiratory function changes in patients with Duchenne muscular dystrophy not using glucocorticoid steroids

Buyse, G., Voit, T., Schara, U., Straathof, C., D'Angelo, M., Bernert, G., Cuisset, J., Finkel, R., Goemans, N., McDonald, C., Rummey, C., Meier, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

550

Dissociation between motor and cognitive skills in patients with Duchenne muscular dystrophy

Voos, M., Favero, F., Dias, K., Artiheiro, M., Oliveira, A., Caromano, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

551

The frequency and characterisation of cardiac involvement in female carriers of BMD or DMD: A cross sectional analysis

McCaffrey, T., Murphy, A., Guglieri, M., Bushby, K., Bourke, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

552

Neuralgic amyotrophy with phrenic neuropathy: A difficult diagnosis but not invariably a bad outcome

van Alfen, N., Doorduin, J., Heijdra, Y., Boon, A., Wijkstra, P., Groothuis, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

553

Prof. Dr. Bernd Rautenstrauss (1959–2015) Pioneer in CMT Genetics

Martini, Rudolf, Walter, Maggie C., Sereda, Michael, Young, Pitt, Nave, Klaus-Armin, Van Broeckhoven, Christine, Lupski, Jim R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 372 KB

english, 2015

554

Molecular, morphological and physiological studies in a mouse model of McArdle disease: Similarities to the human disease

Krag, T., Pinos, T., Nielsen, T., Brull, A., Andreu, A., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 201 KB

english, 2015

555

Longitudinal functional measures in Becker muscular dystrophy: Implications for clinical trials and Duchenne exon skipping outcomes

Bello, L., Campadello, P., Barp, A., Semplicini, C., Soraru', G., Angelini, C., Pegoraro, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

556

Complex relationship between calpain 3 and titin

Charton, K., Sarparanta, J., Milic, A., Vihola, A., Jonson, P., Udd, B., Richard, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

557

Discovery of biomarkers for LGMD2I

Heredia, R., Hathout, Y., Moore, S., Katherine, M., Cirak, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

558

Utrophin modulators significantly improve muscular dystrophy in the mdx diaphragm

Guiraud, S., Chen, H., Squire, S., Edwards, B., Burns, D., Shah, N., Davies, S., Wynne, G., Russell, A., Elsey, D., Wilson, F., Tinsley, J., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

559

Are effects of Translarna (Ataluren) on muscle strength more discernible in younger patients with Duchenne muscular dystrophy (DMD)?

McDonald, C., Reha, A., Elfring, G., Trifilis, P., Park, S., Ong, T., Peltz, S., Spiegel, R.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

560

Next generation sequencing (NGS): A powerful tool for studying rigid spine patients and multiminicore myopathy

Gurgel-Giannetti, J., Concentino, E., Lazar, M., Van der Linden, V., Giannetti, A., Fernandes, F., Campos, W., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

561

Assessment of the 2- and 6-minute walk test for patients with neuromuscular diseases

Andersen, L., Knak, K., Witting, N., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 203 KB

english, 2015

562

A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism

Bertoli, M., Topf, A., Harris, E., Laval, S., Sarkozy, A., Lochmüller, H., Lynch, S., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 222 KB

english, 2015

563

Overlap laminopathy with mild neurogenic atrophy and overt muscular dystrophy

Voermans, N., Kusters, B., Megen, F., Jongbloed, J., Alfen, N., Verschuuren, J., van Engelen, B., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

564

Effect of different dosing regimens of exon skipping antisense oligonucleotides on functional outcome in the mdx mouse model of Duchenne muscular dystrophy

Datson, N., Weij, R., Bijl, S., Janson, A., Vermue, R., Testerink, J., van Deutekom, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

565

Phenotypic differences in mdx mice on C57Bl/10 and DBA/2 backgrounds

Keenan, S., Snyder, B., Xiao, H., Robertson, A., Ahlijanian, M., Bristow, L., Devidze, N.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

566

Welcome to the World Muscle Society Congress in Brighton

Muntoni, Francesco, Quinlivan, Ros, Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 291 KB

english, 2015

567

Exercise treatment in muscle disorders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 448 KB

english, 2015

568

Autosomal recessive mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita

Ravenscroft, G., Nolent, F., Rajagopalan, S., Meireles, A., Paavola, K., Gaillard, D., Alanio, E., Buckland, M., Arbuckle, S., Krivanek, M., Maluenda, J., Pannell, S., Gooding, R., Ong, R., Allcock, R

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

569

A third case of congenital myasthenic syndrome caused by mutations in SCN4A

Witting, N., Werlauff, U., Ballegaard, M., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

570

Molecular interaction of caveolin-3 and nNOS: Implication in the pathogenesis of limb-girdle muscular dystrophy 1C

Ohswa, Y., Fukai, Y., Nishimatsu, S., Fujino, M., Sunada, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

571

Glucose uptake and mitochondrial function following 8 weeks of dietary nitrate supplementation in the dystrophin-deficient mdx mouse

Timpani, C., Trewin, A., Betik, A., Stepto, N., Hayes, A., McConell, G., Rybalka, E.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

572

Effect of forced and voluntary exercise on muscle function and integrity in aged mice expressing low dystrophin levels

van Putten, M., Kogelman, B., Werring, R., Tanganyika-de Winter, C., van der Weerd, L., Aartsma-Rus, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

573

Clinical outcomes in a large cohort of boys and adolescents with Duchenne muscular dystrophy

Alshaikh, N., Brunklaus, A., Robb, S., Quinlivan, R., Munot, P., Sarkozy, A., Muntoni, F., Manzur, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

574

Serum and urine proteomic profiling reveals biomarkers suitable for monitoring the outcome of therapeutic interventions in muscular dystrophies

Voit, T., Poupiot, J., Camadro, J., Garcia, C., Servais, L., Svinartchouk, F., Rouillon, J., Wong, B., Léger, T., Richard, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

575

Book review

Wijesekera, Lokesh

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 283 KB

english, 2015

576

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

577

Physiotherapy in late-onset Pompe disease: A 3 year review of exercise and muscle strength

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

578

A novel mutation in a patient with a DOK7 congenital myasthenic syndrome

Willis, T., Kulshrestha, R., Sewry, C., Palace, J., Liu, W., Beeson, D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

579

Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE

Bertini, E., Sferra, A., Rizza, T., Tasca, G., D'Amico, A., Zanni, G., Barresi, S., Diodato, D., Piermarini, E., Martinelli, D., Dionisi-Vici, C., Niceta, M., Dallapiccola, B., Tartaglia, M., Compagnu

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

580

Study design of a prospective natural history study in sporadic inclusion body myositis (sIBM)

Houston, P., Lowes, L., Greenberg, S., Machado, P., Papanicolaou, D., Genge, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

581

Genomic insights into inflammatory myopathies

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 199 KB

english, 2015

582

Myopathy with anti-signal recognition particle antibodies: Clinical and HLA associations in Malaysian patients

Ambang, T., Shanmugam, H., Tan, J., Tan, C., Cheah, T., Sargunan, S., Shahrizaila, N., Wong, K., Goh, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 217 KB

english, 2015

583

Micro RNA profile associated with the dystrophin level in Becker muscular dystrophy

Zaharieva, I., Cirak, S., Anthony, K., Feng, L., Tasca, G., Ferlini, A., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

584

Mitochondrial dysfunction: A key player in myofibrillar myopathy?

Vincent, A., Rocha, M., Rygiel, K., Grady, J., Campbell, G., Barresi, R., Taylor, R., Turnbull, D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

585

Impact of environmental stress and new models for pathophysiological and therapeutic studies of desminopathies

Delort, F., Segard, B., Joanne, P., Agbulut, O., Vicart, P., Batonnet-Pichon, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

586

Clinical, pathologic, genetic features of collagen 6-related myopathy in Korea

Lee, J., Park, H., Park, Y., Kim, S., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

587

Diagnostic difficulties in muscular dystrophy due to LAMA2 mutations – A case report of affected father and his son

Haberlová, J., Barresi, R., Fajkusová, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

588

Validation of a two-component EPG-model to estimate the muscle T2 water values by 1H-MRS

Reyngoudt, H., Baudin, P., Marty, B., Azzabou, N., Caldas de A. Araujo, E., Loureiro de Sousa, P., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 216 KB

english, 2015

589

A novel LMNA mutation causes severe congenital phenotype with cytoplasmic bodies

Nishikawa, A., Mitsuhashi, S., Mitsuhashi, H., Uruha, A., Noguchi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

590

Stabilometric findings in children and adolescent with Charcot–Marie–Tooth disease

Mattiello-Sverzut, A., Baptista, C., Calori, P., Garcia, B., Marques, W.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

591

Long term follow-up of GRMD dogs transplanted with human adipose derived stem cells

Zatz, M., Gomes, J., Pelatti, M., Secco, M., Vieira, N., Zucconi, E., Vainzof, M., Landini, V., Andrade, T.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

592

Novel variant blossom: From pathology to next generation sequencing to cellular biology

Zhu, W., Mitsuhashi, S., Liang, W., Ito, T., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

593

Kinesiophobia in Duchenne muscular dystrophy: Perspective of parents and physiotherapists

Alkan, H., Bulut, N., Bozdemir Özel, C., Öncel, I., Yılmaz, O., Karaduman, A., Topaloğlu, H.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 218 KB

english, 2015

594

Gene delivery for treating neurological disorders

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

595

Taurine supplemental therapy in prevention of stroke-like episodes in MELAS

Sunada, Y., Ohsawa, Y., Fukai, Y., Fujino, M., Nishimatsu, S., Ohta, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

596

Professor Irena Hausmanowa-Petrusewicz (1917–2015)

Vrbova, Gerta, Sieradzan, Kasia

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 469 KB

english, 2015

597

Title

Journal:

Neuromuscular Disorders

Year:

2015

File:

PDF, 2.23 MB

2015

598

Regulation of skeletal muscle metabolic and angiogenic properties by nuclear hormone receptors: Implications for skeletal muscle regeneration

Sfyri, P., Narkar, V., Matsakas, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 210 KB

english, 2015

599

Lung function tests (MIP, MEP, FVC, VC) predict ventilation and wheelchair use in late-onset Pompe disease

Roberts, M., Mozaffar, T., Young, P., Johnson, E., Quartel, A., Berger, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

600

Clinical and pathological features in SMA patients, confirmed by genetic analysis

Lee, J., Kim, S., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 202 KB

english, 2015

601

Exploration of muscle metabolism during exercise and muscle imaging in late-onset form of multiple acyl-coA dehydrogenase deficiency (MADD)

Souvannanorath, S., Hatem, S., Becquemin, M., Zraik, N., Bittar, R., Rigal, O., Carlier, R., Carlier, P., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

602

A Finnish mutation in SCN4A gene causes predominantly myalgic phenotype

Palmio, J., Sandell, S., Penttilä, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

603

Fatigability during functional outcome measures in participants with myasthenic conditions

Selby, V., Ramdharry, G., Balls, D., James, N., Hogrel, J.Y., Hanna, M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

604

Does protease-activated receptor-2 (PAR2) influence muscle development and regeneration?

Taghavi Esfandouni, N., Mackie, E., Pagel, C.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 219 KB

english, 2015

605

Preparation of a disease specific functional measure suitable for trials in dysferlinopathy

Mayhew, A., James, M., Eagle, M., Bladen, C., Muni Lofra, R., Bettinson, K., Hilsden, H., Harris, E., Bushby, K., Rufibach, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

606

Novel histopathological features in a patient with a novel mutation in DNAJB6 gene (LGMD 1D locus)

Iyadurai, S., Roggenbuck, J., Freimer, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 220 KB

english, 2015

607

Myofiber HLA-DR expression is a distinctive biomarker for overlap myositis and inclusion body myositis

Aouizerate, J., Baba Amer, Y., Bazzez, G., Gherardi, R., Rigoloet, M., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 214 KB

english, 2015

608

Utrophin modulators to treat Duchenne muscular dystrophy (DMD): Results from a Phase 1b Clinical Trial of SMT C1100

Tinsley, J., Muntoni, F., Spinty, S., Roper, H., Hughes, I., Ricotti, R., Tejura, B., Layton, G., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

609

Clinical summary of eight unrelated individuals with GMPPB mutations

Mathews, K., Jensen, B., Saade, D., Willer, T., Cox, M., Mozaffar, T., Scavina, M., Winder, T., Campbell, K., Moore, S.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 226 KB

english, 2015

610

X-linked myotubular myopathy in females

Fiorillo, C., Fattori, F., Astrea, G., Pedemonte, M., Rubegni, A., Trucco, F., Tessa, A., Savarese, M., Baldacci, J., Broda, P., Bertini, E., Minetti, C., Nigro, V., Bruno, C., Santorelli, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

611

Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation

Garibaldi, M., Romero, N., Böhm, J., Ottaviani, P., Fattori, F., Laschena, F., Laporte, J., Bertini, E., Antonini, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 211 KB

english, 2015

612

Novel myopathy in a newborn with severe thoracic dysplasia caused by mutations in the SBDS gene: Further delineation of the phenotypic spectrum of Shwachman–Diamond syndrome

Hedberg Oldfors, C., Topa, A., Tulinius, M., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 208 KB

english, 2015

613

Longitudinal study for GNE gene (ClinBio-GNE)

Gidaro, T., Duchene, D., Ollivier, G., Decostre, V., Hogrel, J.Y., Carlier, P., Behin, A., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

614

Gene delivery to large animal models using AAV vectors

Chamberlain, J., Seto, J., Ramos, J., Hauschka, S., Odom, G.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 209 KB

english, 2015

615

Accelerated multi spin echo NMR imaging for muscle water T2 and fat fraction determination with compressed sensing

Coppa, B., Marty, B., Baudin, P., Azzabou, N., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

616

Dystrophinopathies: A NGS approach for the molecular analysis of DMD gene

Gallano, P., Gonzalez-Quereda, L., Lasa, A., Baena, M., Rodriguez, M., Monges, S., Lubieniecki, F., Nascimento, A., Ortez, C., Baiget, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

617

Two women with brachio-cervical inflammatory myopathy (BCIM) and fatal cardiomyopathy

Van der Kooi, A., Jaeger, B., Pinto, Y., Aronica, E., de Visser, M.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

618

The physiological consequences of different levels of dystrophin following antisense based exon-skipping in the mdx mouse

Muses, S., Godfrey, C., McClorey, G., Wells, K., Coursindel, T., Terry, R., Betts, C, Cappellari, O., Hammond, S., O'Donovan, E., Hildyard, J., El Andaloussi, S., Gait, M., Wood, M., Wells, D.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 229 KB

english, 2015

619

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 38 KB

english, 2015

620

Ablation of MMP-9 promotes resolution of inflammation and regeneration by modulating chemotaxis in early stage but exacerbates fibrosis in late stage in mdx mice

Shiba, N., Miyazakaki, D., Yoshizawa, T., Fukushima, K., Imamura, M., Takeda, S., Nakamura, A.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

621

Small sensory fibre neuropathy in patients with long-lasting macrophagic myofasciitis

Aouizerate, J., Sahli, H., Baba Amer, Y., Lefaucheur, J., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 204 KB

english, 2015

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