Volume 26

Neuromuscular Disorders

Volume 26

1

Duchenne muscular dystrophy: Ringo to the rescue?

Cohn, Ronald D., Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 353 KB

english, 2016

2

20th Anniversary Congress of the World Muscle Society, Brighton 2015

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 6.10 MB

english, 2016

3

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

Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S., Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pastern

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 824 KB

english, 2016

4

Pulmonary function tests (maximum inspiratory pressure, maximum expiratory pressure, vital capacity, forced vital capacity) predict ventilator use in late-onset Pompe disease

Johnson, Erin M., Roberts, Mark, Mozaffar, Tahseen, Young, Peter, Quartel, Adrian, Berger, Kenneth I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

5

Book review

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 283 KB

english, 2016

6

Noncompaction and the neuromuscular connection

Finsterer, Josef, Stöllberger, Claudia

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 313 KB

english, 2016

7

Corrigendum to “Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)” [Neuromuscular Disorders 25 (2015) 937–944]

Landfeldt, Erik, Mayhew, Anna, Eagle, Michelle, Lindgren, Peter, Bell, Christopher F., Guglieri, Michela, Straub, Volker, Lochmüller, Hanns, Bushby, Katharine

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 341 KB

english, 2016

8

Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?

Mercuri, Eugenio

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 610 KB

english, 2016

9

Corrigendum to “The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)”

Kaplan, Jean-Claude, Hamroun, Dalil

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 337 KB

english, 2016

10

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 35 KB

english, 2016

11

Electromechanical delay components during skeletal muscle contraction and relaxation in patients with myotonic dystrophy type 1

Esposito, Fabio, Cè, Emiliano, Rampichini, Susanna, Limonta, Eloisa, Venturelli, Massimo, Monti, Elena, Bet, Luciano, Fossati, Barbara, Meola, Giovanni

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.15 MB

english, 2016

12

Commentary from the Editor

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 349 KB

english, 2016

13

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 35 KB

english, 2016

14

Poster Abstracts

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 540 KB

english, 2016

15

Author Index

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

16

Thrombospondin-1 levels correlate with macrophage activity and disease progression in dysferlin deficient mice

Urao, Norifumi, Mirza, Rita E., Heydemann, Ahlke, Garcia, Jesus, Koh, Timothy J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 2.63 MB

english, 2016

17

Speaker Abstracts

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 263 KB

english, 2016

18

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 35 KB

english, 2016

19

The Dutch patients' perspective on oculopharyngeal muscular dystrophy: A questionnaire study on fatigue, pain and impairments

van der Sluijs, Barbara M., Knoop, Hans, Bleijenberg, Gijs, van Engelen, Baziel G.M., Voermans, Nicol C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 406 KB

english, 2016

20

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 35 KB

english, 2016

21

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 35 KB

english, 2016

22

Corrigendum to “Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations”

Hamanaka, Kohei, Goto, Kanako, Arai, Mami, Nagao, Koji, Obuse, Chikashi, Noguchi, Satoru, Hayashi, Yukiko K., Mitsuhashi, Satomi, Nishino, Ichizo

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 341 KB

english, 2016

23

Sarcomere structure and mechanics in nemaline myopathy: A developing story

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

24

A novel bleeding disorder associated with RYR1 mutations

Lopez, R., Byrne, S., Vukcevic, M., Sekulic-Jablanovic, M., Xu, L., Brink, M., Alamelu, J., Voermans, N., Snoeck, M., Clement, E., Muntoni, F., Zhou, H., Radunovic, A., Mohammed, S., Wraige, E., Zorza

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 215 KB

english, 2016

25

Rolled cake sign in calpain related myopathies

Buendía, J., Paipa, A., Dominguez, R., Verges, E., García, E., López, J., Fuentes, F., Munell, F., Olivé, M., Sanchez Montañez, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

26

The ASCC1 gene is involved in spinal muscular atrophy with congenital fractures: Evidence provided by the identification of a second case

Oliveira, J., Martins, M., Sousa, M., Santos, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

27

Recurrent de novo BICD2 mutation associated with severe arthrogryposis and polymicrogyria: Expanding the phenotype

Ravenscroft, G., Di Donato, N., Davis, M., Craven, P., Poke, G., Neas, K., Neuhann, T., Dobyns, W., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

28

Screening for LRP4-, agrin-, and titin-antibodies and exploring the autoimmune spectrum in myasthenia gravis

Cordts, I., Bodart, N., Hartmann, K., Mei, L., Reimann, J., Rivner, M., Vigneron, A., Weis, J., Schulz, J., Tzartos, S., Claeys, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

29

JC-virus-related progressive multifocal leukoencephalopathy in a myasthenic patient treated by rituximab

Eymard, B., Rigolet, A., Nguyen, L., Rozenberg, F., Afanasief, V., Duyckaerts, C., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

30

Autosomal dominant lower limb restricted congenital myopathy

Delatycki, M., Churchyard, A., Yiu, E., Davis, M., Beecroft, S., Ravenscroft, G., McLean, C., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

31

Nemaline myopathy: Clinical, pathological, muscle imaging and molecular characterization in a cohort of Brazilian patients

Gurgel-Giannetti, J., Yamamoto, G., Lazar, M., Machado, M., Tavares, W., Pavanello, R., Oliveira, A., Zatz, M., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

32

ACTA1-related nemaline myopathy: Reappraisal of the histopathological findings

Malfatti, E., Monges, S., Lornage, X., Abath-Neto, O., Bohm, J., Joureau, B., De Winter, J., Rendu, J., Quijano-Roy, S., Brochier, G., Lubieniecki, F., Madelaine, A., Chanut, A., Estournet, B., Eymard

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

33

A new phenotype of RYR1-myopathy: Mild dominant calf myopathy with core pathology

Jokela, M., Isohanni, P., Penttilä, S., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

34

Ryanodine receptor type 3 (RYR3) as a novel gene associated with nemaline myopathy and fibre type disproportion

Nilipour, Y., Nafissi, S., Varasteh, V., Hossein-Nejad, H., Tonekaboni, S., Ravenscroft, G., Olivé, M., Laing, N., Tajsharghi, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

35

Celiac disease and myopathy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

36

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy

Van den Bergh, P., Sznajer, Y., Van Parijs, V., van Tol, W., Wevers, R., Lefeber, D., Xu, L., Lek, M., MacArthur, D., Xu, L., Lek, M., MacArthur, D., Johnson, K., Phillips, L., Topf, A., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 213 KB

english, 2016

37

Distal myopathy with associated hemiatrophy

Goyal, N., Nayyar, S., Mozaffar, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

38

Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings

Köse, M., Kağnıcı, M., Canda, E., Kalkan Uçar, S., Diniz, G., Ünalp, A., Yılmaz, Ü., Eraslan, C., Ceylaner, S., Taylor, R., Çoker, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

39

Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families

Van Coster, R., Smet, J., De Paepe, B., Vanlander, A., Vantroys, E., Alston, C., Compton, A., Torburn, D., Seneca, S., Taylor, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

40

Pediatric onset of mitochondrial myopathy due to ANT1 mutation

Martinez-Saez, E., Olive, M., Sanchez-Montañez, A., Gratacos, M., Gran-Piña, F., García-Arumí, E., Paredes, F., Camacho-Soriano, J., Ramón y Cajal, S., Macaya, A., Munell, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

41

Variable skeletal muscle involvement in VARS2 mitochondrial encephalomyopathy

Millan, B. San, Blazquez, A., Delmiro, A., Rufian, L., Navarro, C., Teijeira, S., Martin, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

42

The utility of immunohistochemistry in the assessment of myopathies with tubular aggregates and cylindrical spirals

Brady, S., Healy, E., Gang, Q., White, B., Jacob, S., Houlden, H., Holton, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 210 KB

english, 2016

43

Novel GYG1 mutation causing late-onset polyglucosan body myopathy with nemaline rods

Tasca, G., Fattori, F., Monforte, M., Hedberg-Oldfors, C., Sabatelli, M., Udd, B., Boldrini, R., Bertini, E., Ricci, E., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

44

Muscle biopsies reprocessed for electron microscopy from paraffin blocks and frozen tissue produce material of sufficient quality for diagnostic use

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

45

Muscle fibre size revisited: Updated age-stratified normative data in histologically normal/minimal change (HN/MC) paediatric quadriceps biopsies using a high-throughput automated digital script

Feng, L., Ellis, M., Curtis-Wetton, E., Chambers, D., Matthews, A., Manzur, A., Muntoni, F., Sewry, C., Phadke, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

46

Diagnostic implications of three cases of skeletal muscle light-chain (AL) amyloidosis

Reimann, J., Kappes-Horn, K., Tolksdorf, K., Kornblum, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

47

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye

Zou, Y., Donkervoort, S., Salo, A., Barnes, A., Hu, Y., Reghan Foley, A., Makareeva, E., Leach, M., Dastgir, J., Cohn, R., DiNonno, W., Leikin, S., Marini, J., Myllyharju, J., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 200 KB

english, 2016

48

Serum IGF1 and IGFBP3 levels in SMA patients

Yesbek Kaymaz, A., Bal, A., Bora-Tatar, G., Ozon, A., Alikasifoglu, A., Topaloglu, H., Erdem-Yurter, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

49

Loss-of-function mutation of TRIP4 causes a novel form of congenital muscle disease and reveals the transcription coactivator ASC-1 as a new regulator of skeletal myogenesis

Davignon, L., Chauveau, C., Julien, C., Dill, C., Duband-Goulet, I., Cabet, E., Buendia, B., Lilienbaum, A., Rendu, J., Minot, M., Guichet, A., Allamand, V., Vadrot, N., Fauré, J., Odent, S., Lazaro,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

50

MGEX: Myasthenia gravis and exercise, a randomised controlled trial protocol

Birnbaum, S., Saidji, N., Portero, P., Sharshar, T., Hogrel, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

51

Identification of sequence variants in eight genes associated with dystroglycanopathies using whole exome sequencing

Phillips, L., Töpf, A., Johnson, K., Bertoli, M., Xu, L., Lek, M., Claeys, K., Van den Bergh, P., Vissing, J., Colomer, J., Wallgren-Patterson, C., Lopez de Munain, A., Vilchez, J., Kostera-Pruszczyk,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

52

McArdle disease mutations and polymorphisms

Nogales-Gadea, G., Brull, A., Santalla, A., Andreu, A., Arenas, J., Martín, M., Lucia, A., Luna, N., Pinós, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

53

Genetic profile of Brazilian patients with dystrophinopathies

Sauma, L., Ducceschi, P., Iwabe-Marchese, C., Rosa, T., Nucci, A., França, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

54

Clinimetric studies in centronuclear myopathies

Rosa, T., Iwabe-Marchese, C., Queiroz, L., França, M., Nucci, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

55

Multi-minicore myopathy without epidermolysis bullosa simplex: A new plectin phenotype

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

56

Pain and motor function in patients with inclusion body myositis

Carneiro, M., Iwabe-Marchese, C., Martins, M., Martins, C., Faber, I., Martinez, A., Queiroz, L., Nucci, A., França, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

57

Improved efficacy and reduced osteoporosis following methylprednisolone – Nano liposomes treatment in mdx mice

Yanay, N., Turgeman, K., Elbaz, M., Issa, B., Rabie, M., Barenholz, Y., Nevo, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

58

Serial fat fraction analysis using quantitative magnetic resonance imaging using T2*-corrected 6-echo dixon sequence in a late onset Pompe disease patient with enzyme replacement therapy for 18 months

Lee, J., Kim, S., Choi, Y., Jeong, H.N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

59

Duchenne muscular dystrophy: Clinical, genetic and pathological changes in preclinical and early stages

Costa, E., Sousa, A., Moreno, F., Taipa, R., Gonçalves, A., Santos, R., Melo-Pires, M., Santos, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

60

A dystrophic Duchenne mouse model for testing human antisense oligonucleotides

Veltrop, M., van Vliet, L., Hulsker, M., Claassens, J., Brouwers, C., Breukel, C., van der Kaa, J., Linssen, M., den Dunnen, J., Verbeek, J., Aartsma-Rus, A., van Putten, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

61

Compensatory trunk movements during functional tasks in patients with Duchenne muscular dystrophy

Peeters, L., Janssen, M., Kingma, I., van Dieën, J., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

62

A large dominant myotonia congenita family with a V1293I mutation in SCN4A

Chung, K., Yoo, D., Lee, S., Choi, B., Lee, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

63

Commonality amid diversity: Multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

Fuller, Heidi R., Gillingwater, Thomas H., Wishart, Thomas M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

64

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl–coenzyme a reductase antibodies

Liang, W., Uruha, A., Suzuki, S., Komaki, H., Zhu, W., Watanabe, Y., Nishikawa, A., Hamanaka, K., Mitsuhashi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

65

Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Seferian, Andreea M., Malfatti, Edoardo, Bosson, Caroline, Pelletier, Laurent, Taytard, Jessica, Forin, Veronique, Gidaro, Teresa, Gargaun, Elena, Carlier, Pierre, Fauré, Julien, Romero, Norma B., Ren

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.42 MB

english, 2016

66

216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands

Richard, Isabelle, Laurent, Jean-Pierre, Cirak, Sebahattin, Vissing, John

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.14 MB

english, 2016

67

Development of a CRISPR/Cas9-mediated gene editing platform to restore the reading frame for 60% of Duchenne muscular dystrophy patients

Young, C., Hicks, M., Ermolova, N., Nakano, H., Jan, M., Younesi, S., Nelson, S., Miceli, C., Pyle, A., Spencer, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 199 KB

english, 2016

68

Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report

Hendriksen, Jos G.M., Klinkenberg, Sylvia, Collin, Phillipe, Wong, Brenda, Niks, Erik H., Vles, Johan S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 372 KB

english, 2016

69

Distribution and severity of weakness in patients with polymyositis and dermatomyositis: Different pathophysiology, different affected muscle groups

Durmus, H., Deymeer, F., Parman, Y., Oflazer-Serdaroğlu, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

70

Movement monitoring at home and during study visits identifies sources of variability in 6MWT performance in Duchenne muscular dystrophy

Servais, L., Grelet, M., Seferian, A., Gasnier, E., Gargaun, E., Straub, V., Mercuri, E., Voit, T., Laforet, G., Dorveau, E., Vissiere, D., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

71

BMS-986089 is a high affinity anti-myostatin adnectin that increases muscle volume in three preclinical species

Madireddi, M., Malone, H., Kukral, D., Chimalakonda, A., Kozhich, A., Xiling, Y., Swain, J., Yamniuk, A., Ahlijanian, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

72

Intramuscular blood flow quantification with power Doppler ultrasonography

Dori, A., Abbasi, H., Zaidman, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

73

Mechanisms of sarcopenia: Focus on mitochondria quality control and autophagy

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 185 KB

english, 2016

74

Titin-related myopathies: An emerging and growing group of striated muscle diseases

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

75

Sarcomeric disease – From defective genes to animal models and evaluating therapies

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

76

Comprehensive analysis of TTN coding regions in myopathic patients: Challenges and opportunities

Savarese, M., De Bleecker, J., Santoro, L., Comi, G., Mercuri, E., Mora, M., Hackman, P., Udd, B., Nigro, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

77

Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

Oates, E., Yau, K., Donkervoort, S., Swanson, L., Brammah, S., Topf, A., Richard, I., Ferreiro, A., Hoffman, E., Bushby, K., Straub, V., Udd, B., Lek, M., MacArthur, D., Granzier, H., Beggs, A., Bonne

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 198 KB

english, 2016

78

Identification of a post-translational modification with ribitol-phosphate and its defect in muscular dystrophy

Toda, T., Kanagawa, M., Kobayashi, K., Tajiri, M., Manya, H., Kuga, A., Yamaguchi, Y., Wada, Y., Endo, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

79

Awareness and utilization of the Hammersmith Functional Motor Scale – Expanded (HFMSE): A survey

Montes, J., Yong, J., Babrowicz, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 211 KB

english, 2016

80

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Papadopoulos, C., Orlikowski, D., Prigent, H., Perniconi, B., Taouagh, N., Lacour, A., Tard, C., Furby, A., Praline, J., Solé, G., Semplicini, C., Kaminsky, P., Eymard, B., Hamroun, D., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

81

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 90 KB

english, 2016

82

Author Index

Journal:

Neuromuscular Disorders

Year:

2016

File:

PDF, 337 KB

2016

83

Association study of exome variants in the NF-κB and TGFβ pathways identifies CD40 as a modifier of Duchenne muscular dystrophy

Bello, L., Flanigan, K.M., Weiss, R.B., Spitali, P., Aartsma-Rus, A., Muntoni, F., Pegoraro, E., Gordish-Dressman, H., McDonald, C.M., Hoffman, E.P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

84

Histological effects of givinostat in boys with Duchenne muscular dystrophy

Bettica, Paolo, Petrini, Stefania, D'Oria, Valentina, D'Amico, Adele, Catteruccia, Michela, Pane, Marika, Sivo, Serena, Magri, Francesca, Brajkovic, Simona, Messina, Sonia, Vita, Gian Luca, Gatti, Bar

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 953 KB

english, 2016

85

Anna Fidzianska (1930–2015)

Kaminska, Anna, Goebel, Hans H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 445 KB

english, 2016

86

Quantifying disease activity in fatty-infiltrated skeletal muscle by IDEAL-CPMG in Duchenne muscular dystrophy

Mankodi, Ami, Bishop, Courtney A., Auh, Sungyoung, Newbould, Rexford D., Fischbeck, Kenneth H., Janiczek, Robert L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 1.82 MB

english, 2016

87

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 57 KB

english, 2016

88

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 62 KB

english, 2016

89

21st WMS Congress – 2016 – Program (Summary)

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 290 KB

english, 2016

90

Generation of recombinant human IgG monoclonal antibodies from immortalized sorted B cells

Coenen, D., Saxena, A., Hoffmann, C., Hounjet, J., Molenaar, P., Losen, M., Martinez-Martinez, P., Nogales-Gadea, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 202 KB

english, 2016

91

Welcome to the World Muscle Society Congress in Granada

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 290 KB

english, 2016

92

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 57 KB

english, 2016

93

Normative data and reference equation for the six-minute walk test in healthy Caucasian boys aged 13–18 years

Klingels, K., van den Hauwe, M., Hoskens, J., Eertmans, B., Desaever, H., Goemans, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

94

S-nitrosylation of muscle contractile proteins and metabolic enzymes causes muscle atrophy and weakness in GNE myopathy

Miyakawa, M., Cho, A., Malicdan, M., Nishino, I., Noguchi, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

95

Sialylation-increasing therapies for GNE myopathy

Huizing, M., Malicdan, M., Khatami, H., Carrillo, N., Gahl, W.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

96

New function of the myostatin/activin type I receptor (ALK4) as a mediator of muscle atrophy and muscle regeneration

Pasteuning, S., Boertje–van der Meulen, J., van Putten, M., Overzier, M., ten Dijke, P., Kielbasa, S., Wolterbeek, R., Hoogaards, W., Loomans, C., Aartsma-Rus, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

97

Lower muscle stiffness assessed with supersonic shear imaging is associated with more severe muscle impairments in patients with sporadic inclusion body myositis

Bachasson, D., Dubois, G., Benveniste, O., Hogrel, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

98

Should motor function determine the timing of scoliosis surgery in spinal muscular atrophy?

Dunaway Young, S., Montes, J., Salazar, R., Glanzman, A., Pasternak, A., Quigley, J., Ciurylo, E., Riley, S., Martens, W., Gee, R., Duong, T., Civitello, M., Chiriboga, C., Tennekoon, G., Day, J., Fin

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

99

Life prognostic factor of patients with Duchenne muscular dystrophy

Saito, T., Ogata, K., Kobayashi, M., Takahashi, T., Kuru, S., Matsumura, T., Takada, H., Mikata, T., Funato, M., Arahata, H., Fukudome, T., Yonemoto, N., Kimura, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

100

Awareness of caregivers about swallowing disorders in pediatric neuromuscular diseases

Kılınç, H., Yılmaz, O., Alemdaroğlu, I., Bulut, N., Topaloğlu, H., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

101

Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum

Cruz, S., Figueroa-Bonaparte, S., Gallardo, E., de Becdelièvre, A., Gartioux, C., Allamand, V., Piñol, P., Rodríguez-García, M., Jiménez-Mallebrera, C., Llauger, J., González-Rodríguez, L., Cortés-Vic

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

102

Bone status in children with types II and III spinal muscular atrophy: A prospective longitudinal study

Baranello, G., Arnoldi, M., Bussolino, C., Broggi, F., Vai, S., Bianchi, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 210 KB

english, 2016

103

Targeted next-generation sequencing as a diagnostic tool in neuromuscular disorders

Lehtinen, S., Penttilä, S., Suominen, T., Evilä, A., Arumilli, M., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

104

Prevalence study of muscle channelopathies in Italy

Maggi, L., Lo Monaco, M., Portaro, S., Meola, G., Desaphy, J., Lucchiari, S., Pagliarani, S., Bernasconi, P., Imbrici, P., Comi, G., Mantegazza, R., Trojano, M., D'Amico, A., Pegoraro, E., Politano, L

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 198 KB

english, 2016

105

Height is significantly shorter in Duchenne muscular dystrophy than Becker muscular dystrophy and the incidence of short stature is highest in Dp71 mutated subgroup

Matsumoto, M., Awano, H., Lee, T., Shimomura, H., Takeshima, Y., Matsuo, M., Iijima, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

106

A comparative study of care and support for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis

Takeuchi, F., Komaki, H., Rodger, S., Kirschner, J., Kimura, E., Takeda, S., Gramsch, K., Vry, J., Bushby, K., Lochmuller, H., Wada, K., Nakamura, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

107

Coalition to cure calpain 3: A patient organization committed to treating and ultimately curing limb girdle muscular dystrophy type 2A

Levy, J., Boslego, J., Wrubel, M., Wrubel, L., Spencer, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

108

Exploring the microvascular abnormalities in a cohort of paediatric patients with spinal muscular atrophy

Scoto, M., Zhou, H., Thompson, D., Howell, K., Hong, Y., Imbrigiotta, N., Parson, S., Brogan, P., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

109

Endoplasmic reticulum stress in the pathogenesis of a murine model and patients of inclusion body myositis

Yamashita, S., Tawara, N., Doki, T., Zhang, X., Zhang, Z., Matsuo, Y., Yonemochi, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

110

Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

Zenagui, R., Lacourt, D., Juntas-Morales, R., Sole, G., Cances, C., River, F., Renard, D., Walther-Louvier, U., Ferrer-Monasterio, X., Espil, C., Arné-Bes, M., Cintas, P., Uro-Coste, E., Martin Negrie

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

111

Neuromuscular diseases: The mitochondrial involvement

El-Khoury, R., Traboulsi, S., Hamad, T., Ahdab-Barmada, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

112

Utrophin modulators significantly improve the muscular dystrophy in the mdx diaphragm

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

113

Gene Therapy 2.0: CRISPR/Cas9 genome editing provides novel therapeutic avenues for neuromuscular disorders

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

114

MicroRNA regulation of the GNE gene

Moshkovitz, I., Becker-Cohen, M., Eisenberg, I., Mitrani-Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

115

Development of a zebrafish model for GNE myopathy

Livne, H., Daya, A., Becker-Cohen, M., Mitrani-Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

116

Hypertrophic cardiomyopathy and abnormal glycogen storage in heart and skeletal muscle associated with inactivation of KLHL24

Hedberg-Oldfors, C., Danielsson, O., Hübbert, L., Nennesmo, I., Abramsson, A., Banote, R., Edling, M., Zetterberg, H., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

117

Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO) for Duchenne muscular dystrophy (DMD): Longitudinal comparison to external controls on six-minute walk test (6MWT) and loss of ambulation (LOA)

Mendell, J., Goemans, N., Rodino-Klapac, L., Sahenk, Z., Lowes, L., Alfano, L., Berry, K., Peterson, E., Lewis, S., Shontz, K., Shao, J., Duda, P., Mercuri, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

118

Restoration of dystrophin expression and motor function in using exosomes-based non-immunogenic genetic therapy

Saleem, A., Safdar, A., Khan, M., Azzopardi, P., Rusiecki, D., Saleem, A., Tarnopolsky, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

119

Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center

Oncel, I., Haliloglu, G., Utine, E., Aksoy, C., Boduroglu, K., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

120

Phase 2 open-label extension study of patisiran, an investigational siRNA agent for hereditary ATTR amyloidosis with polyneuropathy (hATTR-PN)

Conceicao, I., Suhr, O., Coelho, T., Waddington Cruz, M., Schmidt, H., Buades, J., Campistol, J., Pouget, J., Berk, J., Adams, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

121

Drug-induced myopathies in adults

Hilton-Jones, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 185 KB

english, 2016

122

Isolation and characterization of human urinary stem cells from healthy donors and DMD patients as in vitro cell model for functional studies and drug testing

Falzarano, M., D'Amario, D., Osman, H., Siracusano, A., Scotton, C., Maroni, C., Massetti, M., Amodeo, A., Mercuri, E., Manchi, M., Crea, F., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

123

Effect of deflazacort and prednisone on muscle enzymes in the treatment of Duchenne muscular dystrophy

Dubow, J., Cunniff, T., Wanaski, S., Meyer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

124

A recessive TTN founder mutation causes a distal myopathy phenotype in a Serbian cohort

Topf, A., Nikodinović Glumac, J., Perić, S., Cassop-Thompson, M., Bertoli, M., Johnson, K., Phillips, L., MacArthur, D., Rakočević Stojanović, V., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

125

Tissue-Selective Androgen Receptor Modulators (SARMs) for the treatment of Duchenne muscular dystrophy (DMD)

Ponnusamy, S., Sullivan, R., Zafar, N., Narayanan, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

126

RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange

Roos, A., Beltran, S., Piscia, D., Laurie, S., Protasio, J., Cañada, A., Fernández, J., Kaliyaperumal, R., Lair, S., Sernadela, P., Girdea, M., Thompson, R., Straub, V., Roos, M., T'Hoen, P., Valencia

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

127

Inhibition of PIK3C2B as a treatment strategy for myotubular myopathy

Sabha, N., Volpatti, J., Gonorazky, H., Reifler, A., Davidson, A., Buj-Bello, A., Feldman, E., Dowling, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

128

Characteristics and natural history of oculopharyngeal muscular dystrophy (OPMD): The study protocol of ‘OPMD Forte’

Kroon, H., Kalf, J., de Swart, B., Horlings, C., van Engelen, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

129

The 2017 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

Kaplan, Jean-Claude, Hamroun, Dalil, Rivier, François, Bonne, Gisèle

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 2.67 MB

english, 2016

130

Genetic analyses and clinical features in a series of eight unrelated patients with Glycyl-tRNA synthetase (GARS) variants

Rattihalli, R., Forrester, N., Horvath, R., Maggi, L., Manzur, A., Fuller, G., Gutowski, N., Rankin, J., Norman, A., Majumdar, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

131

ACE-083, a locally-acting TGF-β; superfamily ligand trap, increases muscle mass and strength in a mouse model of Duchenne muscular dystrophy

Pearsall, R., Widrick, J., Sako, D., Davies, M., Hevron, K., Castonguay, R., Troy, M., Grinberg, A., Cannell, M., Dagon, Y., Kumar, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

132

Long-term treatment with eteplirsen promotes exon 51 skipping and novel dystrophin protein production in Duchenne muscular dystrophy patients

Charleston, J., Schnell, F., Dworzak, J., Donoghue, C., Lewis, S., Rodino-Klapac, L., Sahenk, Z., Shanks, C., Voss, J., DeAlwis, U., Frank, D., Wentworth, B., Mendell, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

133

GNE myopathy biomarkers: Essential for diagnosis and response to therapy

Malicdan, M., Leoyklang, P., Ciccone, C., Carrillo, N., Huizing, M., Gahl, W.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

134

Phase 2 study design of antisense oligonucleotide nusinersen in presymptomatic infants with spinal muscular atrophy

Bertini, E., Hwu, P., Reyna, S., Farwell, W., De, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

135

A further case with chronic hemolysis, CIDP and lethal cerebral vasculitis due to a CD59 mutation

Korinthenberg, R., Klemann, C., Sacco, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

136

ASO-mediated Dnm2 knockdown prevents and reverts myotubular myopathy in mice

Tasfaout, H., Buono, S., Guo, S., Kretz, C., Monia, B., Cowling, B., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

137

Second generation utrophin modulator for the treatment 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., Harriman, S., Tinsley, J., Davies, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

138

Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype

Juntas Morales, R., Walther Louvier, U., Nectoux, J., Leturc, F., Bouchet-Seraphin, C., Leboucq, N., Rigau, V., Rivier, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

139

Book review

Krishnakumar, Deepa

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 282 KB

english, 2016

140

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 84 KB

english, 2016

141

Clinical, muscle biopsy and image findings in reversible infantile respiratory chain deficiency

Paim, J., Cotta, A., Navarro, M., Carvalho, E., Valicek, J., Cunha Junior, A., Baptista Junior, S., Silveira, E., Lima, M., Carellos, E., Takata, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

142

Manifesting heterozygotes in carnitine palmitoyltransferase (CPT) II deficiency

Joshi, P., Zierz, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

143

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

Ng, Yi Shiau, Hardy, Steven A., Shrier, Venice, Quaghebeur, Gerardine, Mole, David R., Daniels, Matthew J., Downes, Susan M., Freebody, Jane, Fratter, Carl, Hofer, Monika, Nemeth, Andrea H., Poulton,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 956 KB

english, 2016

144

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 84 KB

english, 2016

145

Pompe disease in patients with undetermined myopathies or asymptomatic hyperCKemia: Searching for late-onset Pompe disease in Aegean region of Turkey

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

146

Taking advantage of an old concept, “illegitimate transcription”, for a proposed novel method of genetic diagnosis of McArdle disease

Ballester-Lopez, A., Blazquez, A., Carlos Rubio, J., Arenas, J., Gonzalez-Quintana, A., Pinos, T., Andreu, A., Garcia-Consuegra, I., Lucia, A., Martin, M., Nogales-Gadea, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

147

Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain

Gomez-Garcia de la Banda, M., Julia, N., Felipe, A., Sanchez-Montañez, A., Balcells, J., Pujol, M., Soler, P., Rodrigo, C., Floriano, B., Lopez, J., Macaya, A., Munell, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

148

The novel STIM1 mutation with tubular aggregate myopathy and its pathogenicity

Lee, J., Nishikawa, A., Mitsuhashi, S., Miyatake, S., Koshimizu, E., Matsuoto, N., Noguchi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

149

Alu-mediated copy number variants in GNE myopathy

Zhu, W., Mitsuhashi, S., Yonekawa, T., Noguchi, S., Chai Yui Huei, J., Nalini, A., Preethish-Kumar, V., Yamamoto, M., Murakata, K., Mori-Yoshimura, M., Kamada, S., Yahikozawa, H., Karasawa, M., Kimura

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

150

Title

Journal:

Neuromuscular Disorders

Year:

2016

File:

PDF, 297 KB

2016

151

Expanding the clinical and molecular findings in a patient with Pompe disease

Lubieniecki, F., Mozzoni, J., de Castro, M., Foncuberta, E., Schenone, A., Saccoliti, M., Taratuto, A., Monges, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

152

Digital PCR quantification of miR-30c and miR-181a as serum biomarkers in Duchenne muscular dystrophy

Llano-Diez, M., Ortez, C., Alvarez, L., Paco, S., Kalko, S., Jou, C., Colomer, J., Nascimento, A., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

153

Neuromyopathy with cataracts and glaucoma: A novel syndrome caused by recessive mutations in POLG1

Castiglioni, C., Bertini, E., Udd, B., Avaria, M., Fattori, F., Carrozzo, R., Tasca, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

154

Adiponectin hinders the NLRP3 inflammasome in a murine model of Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

155

Patient participation in development of upper limb exercise study in facioscapulohumeral dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

156

Clinical outcome study for dysferlinopathy: One-year follow-up

Paradas, C., Moore, U., James, M., Mayhew, A., Azzabou, N., Fernandez Torron, R., Reyngoudt, H., Smith, F., Harris, E., Bettinson, K., Hilsden, H., Jacobs, M., Feng, J., Cnaan, A., Rufibach, L., Eagle

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

157

DMD genotypes and loss of ambulation in the CINRG Duchenne natural history study

Bello, L., Morgenroth, L., Gordish-Dressman, H., Hoffman, E., McDonald, C., Cirak, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

158

Orofacial problems in patients with Duchenne muscular dystrophy and spinal muscular atrophy

Werlauff, U., Rahbek, J., Steffensen, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

159

Lambert–Eaton syndrome in children, a rare unrecognized treatable neuromuscular disorder: Is there any useful feature in the muscle biopsy?

Nascimento, A., Ortez, C., Jou, C., Corbera, J., Codina, A., Frongia, A., Borras, A., Jimenez-Mallebrera, C., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

160

Virtual reality computer gaming with dynamic arm support is safe and feasible in boys with Duchenne muscular dystrophy

Heutinck, L., Jansen, M., van den Elzen, Y., van der Pijl, D., de Groot, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

161

Duchenne dynamic arm study: Quantitative description of upper extremity function and activity of boys and men with DMD

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

162

Validation of ACTIVE with the PROMIS patient-reported measure of upper extremity function in males with Duchenne muscular dystrophy

Miller, N., Alfano, L., Berry, K., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

163

The profile and natural history of congenital muscular dystrophies

Ardicli, D., Maras Genc, H., Seyhan, K., Kahraman, A., Akcil, M., Talim, B., Haliloglu, G., Tunca Yilmaz, O., Alemdaroglu, I., Topaloglu, H., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

164

Baseline data from a European prospective and longitudinal natural history study of patients with type 2 and 3 spinal muscular atrophy – NatHis-SMA

Chabanon, A., Pereon, Y., Daron, A., Cances, C., Vuillerot, C., Fontaine, S., Goemans, N., De Waele, L., Laugel, V., Cuisset, J., Schara, U., Gangfuss, A., Gidaro, T., Gargaun, E., Marquet, A., Viller

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

165

Monosomy 18p: Risks for developing FSHD

Goossens, R., Balog, J., Lemmers, J., van den Boogaard, M., van der Vliet, P., Donlin-Smith, C., Nations, S., Kriek, M., Ruivenkamp, C., Heard, P., Bakker, B., Tapscott, S., Cody, J., Tawil, R., van d

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

166

Deoxyribonucleoside supply rescues mtDNA depletion in human POLG-deficient fibroblasts

Blázquez-Bermejo, C., Torres-Torronteras, J., Cabrera, R., Lombès, A., Martí, R., Cámara, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

167

Exercise intolerance and myalgia: First clinical sign of a primary alpha-sarcoglycanopathy

Ortez, C., Jou, C., Campistol, J., Nascimento, A., Jimenez-Mallebrera, C., Topf, A., Johnson, K., Straub, V., Codina, A., Corbera, J., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

168

Titinopathies – Establishment of an international database of TTN mutations and their phenotypes

Hackman, P., Savarese, M., Bonnemann, C., Ferreiro, A., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

169

HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients

Papadopoulos, C., Laforêt, P., Nectoux, J., Stojkovic, T., Wahbi, K., Carlier, R., Carlier, P., Leonard-Louis, S., Leturcq, F., Eymard, B., Behin, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

170

Bumetanide in hypokalaemic periodic paralysis: a randomised, double-blind, placebo controlled phase II clinical trial with a crossover design

Scalco, R., Skorupinska, I., Blochet, C., Habib, M., Matthews, E., Morrow, J., Hanna, M., Fialho, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

171

Prevalence of genetic muscle disorders (MD-Prev): A national, population-based study

Theadom, A., Roxburgh, R., Rodrigues, M., O'Grady, G., Taylor, T., Baker, R., Poke, G., Love, D., Hammond-Tooke, G., Ranta, A., Jones, K., Stewart, J., Te Ao, B., Parmar, P., Vandal, A., Krishnamurthi

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

172

BMS-986089: A novel adnectin protein that dose dependently lowers free myostatin and increases muscle volume and lean body mass

Jacobsen, L., Bechtold, C., Tirucherai, G., Ahlijanian, M., Luo, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

173

IBIC-LG: Selectivity pattern of muscular MRI images in limb-girdle muscular dystrophy (LGMD) 2A using database of skeletal muscular images

Iwabuchi, E., Ishiyama, A., Nakayama, T., Kuru, S., Takeshita, E., Shimizu-Motohashi, Y., Komaki, H., Mori, M., Oya, Y., Nishino, I., Sasaki, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

174

Quantitative magnetic resonance imaging in late-onset Pompe disease: A prospective observational study of 19 patients

Figueroa-Bonaparte, S., Llauger, J., Segovia, S., Belmonte, I., Alejaldre, A., Pedrosa, I., Gallardo, E., Illa, I., Díaz-Manera, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

175

Dutch founder mutation in MICU1 found in seven patients with a LGMD-like phenotype and cognitive impairment

Ginjaar, I., Niks, E., van der Pol, L., van der Kooi, A., Straathof, C., van Duyvenvoorde, H., Kriek, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

176

Myo-cytoblots: Quantification of dystrophin by in-cell western assay for a streamlined development of DMD treatments

Ruiz-Del-Yerro, E., Garcia-Jimenez, I., Arechavala-Gomeza, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

177

Pharmacokinetics of 21-desacetyldeflazacort and the safety of deflazacort after oral administration to children and adolescents with Duchenne muscular dystrophy

Wanaski, S., Shieh, P., Kuntz, N., Ciafaloni, E., Butterfield, R., Brantley, S., Grasfeder, L., Dubow, J., Beers, B., Kernbauer, E., Wells, C., Cunniff, T., Griggs, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 201 KB

english, 2016

178

Results of North Star ambulatory assessments in the phase 3 ataluren confirmatory trial in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD)

Muntoni, F., Luo, X., Elfring, G., Kroger, H., Riebling, P., Ong, T., Spiegel, R., Peltz, S., McDonald, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

179

Development of a validated western blot method for quantification of human dystrophin protein

Schnell, F., Donoghue, C., Dworzak, J., Charleston, J., Frank, D., Wentworth, B., Wilton, S., Lewis, S., Mendell, J., Rodino-Klapac, L., Sahenk, Z.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

180

In vitro activation of type I interferon pathway reproduces the characteristics damages observed in dermatomyositis patients

Ladislau, L., Suárez-Calvet, X., Toquet, S., Benjamim, C., Mouly, V., Boutler-Browne, G., Benveniste, O., Allenbach, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

181

Analysis of the autophagic pathway during in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Fernandes, S., Almeida, C., Onofre-Oliveira, P., Bigot, A., Mouly, V., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

182

Mitochondrial dysfunction in the pathogenesis of oculopharyngeal muscular dystrophy

Doki, T., Yamashita, S., Zhang, Z., Zhang, X., Tawara, N., Maeda, Y., Hino, H., Uyama, E., Araki, K., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

183

The natural history of type 1 spinal muscular atrophy in Taiwan

Ou, S., Jong, Y., Ho, C., Lee, W., Lin, K., Jones, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

184

Targeted treatment for SMA: New opportunities and challenges

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

185

Prevention and treatment of scoliosis by Garches brace in type I SMA patients (non sitters) surviving through childhood

Sauvagnac-Quera, R., Benezit, A., Monsaingeon, C., Azzi, V., Dabaj, I., Vaugier, I., Tirolien, S., Neut, J., Carlier, R., Miladi, L., Glorion, C., Leclair, D., Estournet, B., Quijano-Roy, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

186

Correlation between mutation size and cardiac involvement in myotonic dystrophy type 1: An analysis of the DM1-heart registry

Wahbi, K., Chong-Nguyen, C., Algalarrondo, V., Laforet, P., Furling, D., Stojkovic, T., Bassez, G., Behin, A., Eymard, B., Duboc, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

187

Sporadic inclusion body myositis and HLA associations in a multi-ethnic Asian population

Ambang, T., Tan, J., Shanmugam, H., Wong, K., Goh, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

188

Adult Duchenne population: A growing population

Bettolo, C. Marini, Guglieri, M., Eagle, M., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

189

Russian experience of DMD genetic database

Vlodavets, D., Reshetov, D., Artemieva, S., Litvinova, E., Shulyakova, I., Shidlovskaya, O., Kazakov, D., Belousova, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

190

A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems

Annexstad, E., Vatn, R., Fagerheim, T., Antal, E., Rasmussen, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

191

Antioxidants improve muscle degeneration process

Ishii, A., Yoshida, M., Ueno, H., Kokubo, K., Ohkoshi, N., Tamaoka, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

192

Vision DMD: Vamorolone drug development program for Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 198 KB

english, 2016

193

Genotype–phenotype correlation in VLCAD deficiency

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

194

The energetic study: Effectiveness of a self-management group programme to improve social participation in patients with neuromuscular disease and chronic fatigue

Veenhuizen, Y., Cup, E., van Keulen, B., Groothuis, J., Feuth, T., van Engelen, B., Geurts, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

195

Living well with a neuromuscular disease: A newly established course for patients and their families

Ashworth, J., Doran, N., Burrows, E., Morgan, A., Majumdar, A., Thomas-Unsworth, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

196

Potential mechanisms for prolonged loss of ambulation with deflazacort in Duchenne muscular dystrophy – Tolerability profile and effects on growth

Meyer, J., Cunniff, T., Wanaski, S., Dubow, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

197

Functional studies of YBX3 variants associated with nemaline myopathy

Sagath, L., Laitila, J., Lehtokari, V., Kiiski, K., Grönholm, M., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

198

ORAI1 mutations cause abnormal channel gating in tubular aggregate myopathy

Böhm, J., Bulla, M., Urquhart, J., Koch, C., Newman, W., Mora, M., Moggio, M., Romero, N., Demaurex, N., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

199

Central nervous system involvement in late onset Pompe disease (LOPD): Clues from neuropsychological, morphological and functional MRI studies

Musumeci, O., Marino, S., Granata, F., Barca, E., Corallo, F., De Salvo, S., Bonanno, L., Morabito, R., Longo, M., Toscano, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

200

Osteoprotegerin full length protein mitigates muscular dystrophy in fast-twitch skeletal muscles

Dufresne, S., Boulanger-Piette, A., Yagita, H., Penninger, J., Frenette, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

201

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 198 KB

english, 2016

202

Dantrolene as a treatment option for RYR1-related rhabdomyolysis

Scalco, R., Voermans, N., Piercy, R., Jungbluth, H., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

203

Positive detection of anti-NXP2 autoantibodies correlates with muscle ischemia in juvenile dermatomyositis

Aouizerate, J., De Antonio, M., Bader-Meunier, B., Bodemer, C., Barnerias, C., Desguerre, I., Gherardi, R., Charuel, J., Authier, F., Gitaux, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

204

Dystroglycanopathy: Description of the first patient cohort in Spain

Adarmes Gómez, A., Servián Morilla, E., Rivas Infante, E., Muñoz Cabello, B., Carbonell Corvillo, P., Villarreal Pérez, L., Martínez Fernández, E., Fernández Ramos, J., Arrabal Fernández, L., Ley Mart

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

205

Severe autosomal recessive congenital hypomyelinating neuropathy causing death in the first four months of life

Cabrera, M., Ravenscroft, G., Andersen, E., McLean, C., Azmanov, D., Stark, Z., Davis, M., Kornberg, A., Ryan, M., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

206

A juvenile case of eosinophilic fasciitis outcome

Kim, S., Huh, S., Kim, H., Kim, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

207

Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases

Gallano, P., Vieitez, I., Gonzalez-Quereda, L., Borrego, S., Marcos, I., Millan, J., Jaijo, T., Prior, C., Molano, J., Trujillo-Tiebas, M., Gallego-Merlo, J., Garcia-Barcina, M., Fenollar-Cortés, M.,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

208

SMA subtype concordance in siblings: Findings from the cure SMA cohort

Jones, C., Cook, S., Hobby, K., Jarecki, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

209

The MYO-SEQ project: Application of exome sequencing technologies to 1000 patients affected by limb-girdle weakness of unknown origin

Johnson, K., Bertoli, M., Phillips, L., Töpf, A., Lek, M., Xu, L., MacArthur, D., Straub, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

210

LGMD2D intrafamilial clinical heterogeneity caused by alternative splicing of SGCA gene

Gonzalez-Quereda, L., Gallano, P., Gallardo, E., Rodriguez, M., Lleixa, C., Straub, V., Topf, A., Diaz-Manera, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

211

Establishment of a murine model of vocal cord and pharyngeal weakness with distal myopathy

Zhang, X., Yamashita, S., Tawara, N., Doki, T., Zhang, Z., Matsuo, Y., Yonemochi, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

212

Would myosin be a good therapeutic target for nemaline myopathy?

Ochala, J., Gregorevic, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

213

Contractile dysfunction in permeabilized muscle fibers of NEM6 patients with the Dutch founder mutation in KBTBD13

de Winter, J., van Willigenburg, M., Joureau, B., Stienen, G., Lassche, S., van Engelen, B., Voermans, N., Ottenheijm, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

214

A novel homozygous frameshift deletion in the SH3TC2 gene in a patient with Charcot–Marie–Tooth (CMT) type 4C and severe ataxia

Forrester, N., Greenslade, M., Buxton, C., Norman, A., Majumdar, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

215

ACTA1-related mild or typical nemaline myopathy in a three-generation Finnish family

Lehtokari, V., Pelin, K., Wallgren-Pettersson, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

216

A novel COL12A1 variant expands the clinical picture for a collagen XII-related myopathy

Punetha, J., Kesari, A., Hoffman, E., Gos, M., Kaminska, A., Kostera-Pruszczyk, A., Hu, Y., Zou, Y., Bonnemann, C., Jedrzejowska, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

217

Tubular aggregate myopathy with miosis caused by a novel mutation in ORAI1

Garibaldi, M., Fattori, F., Riva, B., Labasse, C., Brochier, G., Ottaviani, P., Laschena, F., Romero, N., Genazzani, A., Bertini, E., Antonini, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

218

Toward an appropriate neuropsychological assessment protocol for children with myotonic dystrophy type 1

Geuens, S., Goemans, N., Thiery, E., Van Herck, J., Lemiere, J., De Waele, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

219

Late-onset Pompe disease signs and impacts: A conceptual model

Stewart, A., Krupnick, R., Meyer, M., Paty, J., Hamed, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

220

Cardiac evaluation in Duchenne muscular dystrophy patients presenting with acute severe chest pain

Hor, K., Raman, S., Mah, M., Cripe, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

221

Interdisciplinary management of Duchenne muscular dystrophy patients on daily glucocorticoid treatment: Maximizing functional outcomes and minimizing glucocorticoid side effects

Wong, B., Rybalsky, I., Shellenbarger, K., Tian, C., McMahon, M., Rutter, M., Sawnani, H., Jefferies, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

222

Distinctive IFNγ signature in anti-synthetase syndrome and inclusion body myositis compared to dermatomyositis

Rigolet, M., Aouizerate, J., Baba Amer, Y., Gherardi, R., Bassez, G., Authier, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

223

Variations in Duchenne muscular dystrophy clinical course in a multi-ethnic UK population: Are there potential influencing factors other than genetic modifiers?

Roper, H., Hufton, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

224

MTM1-related myopathy carrier females manifest significant skeletal asymmetries and a spectrum of muscle involvement

Reghan Foley, A., Cocanougher, B., Flynn, L., Yun, P., Jain, M., Waite, M., Vasavada, R., de Chastonay, S., Donkervoort, S., Bonnemann, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

225

Longitudinal changes in oral and masticatory muscles in Duchenne muscular dystrophy: A disturbed balance

Lagarde, M., Knuijt, S., Groothuis, J., de Groot, I., van den Engel-Hoek, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

226

IBIC-LG: Database of muscle images of patients with limb-girdle muscular dystrophy in Japan

Nakayama, T., Ishiyama, A., Kuru, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

227

Severe congenital myopathy with myasthenic features and lethal neurodegeneration – A new ALG14-related phenotype?

Korinthenberg, R., Schorling, D., Rost, S., Krueger, M., Beytia, M., Mueller, C., Bönnemann, C., Kirschner, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

228

ECG abnormalities correlate with myocardial fibrosis by cardiac magnetic resonance imaging in DMD

Hor, K., Raman, S., Subramanian, S., Moran, T., Gnyawali, T., Lao, K., Benson, W., Cripe, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

229

Transduce: The importance of a multidisciplinary outpatient transition in adolescents and young adults with Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

230

Validation of FACIT-F and MFI-20 questionnaires in individuals with RYR1-RM

Arveson, I., Elliott, J., Tonkura, F., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

231

ABSTRACT WITHDRAWN

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

232

Serum pro-inflammatory proteins have potential utility as biomarkers for NF-kB targeting approaches in DMD

Bista, P., Walter, G., Vandenborne, K., Lee, B., Nichols, A., Donovan, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

233

Selection of reference genes for normalisation of dystrophin mRNA RT-qPCR data

Garcia-Jimenez, I., Ruiz-Del-Yerro, E., Arechavala-Gomeza, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

234

A randomized, double-blinded, placebo-controlled, multiple ascending dose study to evaluate the safety, tolerability, pharmacokinetics, immunogenicity, and biological activity of ATYR1940 in adult patients with facioscapulohumeral muscular dystrophy (FSHD)

Gershman, A., Chiang, K., Do, M., Abbink, E., Harbers, V., Audebert, C., Campana-Salort, E., Monforte, M., Iyadurai, S., Carey, L., Heskamp, L., Kan, H., Heerschap, A., Kissel, J., Ricci, E., Attarian

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

235

ENMC Announcement

Journal:

Neuromuscular Disorders

Year:

2016

File:

PDF, 775 KB

2016

236

Myotonic dystrophy type 1: Long term natural history data

De Waele, L., Vanwesemael, C., Goemans, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

237

TRPV2 inhibition therapy can be effective for cardiomyopathy of muscular dystrophy

Matsumura, T., Matsui, M., Iwata, Y., Asakura, M., Saito, T., Fujimura, H., Sakoda, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

238

The natural history of the North Star Ambulatory Assessment (NSAA) in patients with Duchenne muscular dystrophy with skippable mutations

Domingos, J., Manzur, A., Ridout, D., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

239

Functions of the SIL1-BiP chaperone system in maintaining muscle fiber integrity

Roos, A., Buchkremer, S., Coraspe, J. González, Weis, J., Kollipara, L., Zahedi, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

240

Diagnostic value of the activity of mitochondrial respiratory chain complex for mitochondrial myopathies

Lebrato-Hernandez, L., Rivas-Infante, E., Cortes-Rodriguez, A., Carbonell-Corvillo, P., Villareal-Perez, L., Marquez-Infante, C., Rojas-Marcos, I., Martinez-Fernandez, E., Carvajal-Hernandez, A., Casc

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

241

Clinical and pathological heterogeneity in a family with ACTA1 mutation and TTN variants

Dhawan, P., Sorenson, E., Liewluck, T., Walkiewicz, M., Rumilla, K., Milone, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

242

Clinical features of knee osteoarthritis in patients with sporadic inclusion body myositis

Sugie, K., Eura, N., Sugie, M., Shiota, T., Iwasa, N., Shinmyo, N., Kawahara, M., Juo, K., Horikawa, H., Ueno, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

243

A histologically diagnosed case with limb-girdle muscular dystrophy type 1A: The youngest case in the literature

Diniz, G., Edizer, S., Gurbuz, G., Unalp, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

244

Optimizing dystrophin quantification in DMD and BMD patients: A new semi-automated acquisition and analysis method

Sardone, V., Ellis, M., Torelli, S., Feng, L., Chambers, D., Phadke, R., Sewry, C., Morgan, J., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

245

Glucocorticoids deflazacort and prednisone show muscle strength effects versus placebo in boys with Duchenne muscular dystrophy ages 5–7

Sazani, P., Cunniff, T., Wanaski, S., Dubow, J., Meyer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 199 KB

english, 2016

246

New advances in McArdle disease: Characterization of the p.R50X knock-in mouse model and evaluation of new therapeutic approaches

Pinós, T., de Luna, N., Brull, A., Nielsen, T., Krag, T., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

247

Congenital myasthenic syndrome due to COLQ mutations: Clues for diagnosis

Haliloglu, G., Demirci, T., Alikasifoglu, M., Aktas, D., Anlar, B., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

248

Calpainopathy in Chile, first cases reported

Bevilacqua, J., Mathieu, Y., Krahn, M., Bartoli, M., Castiglioni, C., Kleinsteuber, K., Díaz, J., Puppo, F., Cerino, M., Courrier, S., Gorokhova, S., Miranda, N., Trangulao, A., González-Hormazábal, P

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

249

Nucleosides to treat mitochondrial DNA maintenance defects

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

250

CRISPR/Cas9-mediated exon inclusion in Lama2 gene alleviates dystrophic pathology in MDC1A mouse model

Kemaladewi, D., Hyatt, E., Ivakine, Z., Cohn, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

251

MELAS, a first-ever tRNA modification disorder is alleviated by taurine supplementation therapy

Sunada, Y., Ohsawa, Y., Fukai, Y., Fujino, M., Nishimatsu, S., Ohta, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

252

Functional assessment of nebulin interactions with actin

Laitila, J., Lehtonen, J., Marttila, M., Sagath, L., Lehtokari, V., Grönholm, M., Wallgren-Pettersson, C., Pelin, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

253

Muscle MRI in neutral lipid storage disease (NLSD)

Garibaldi, M., Tasca, G., Diaz-Manera, J., Antonini, G., Pennisi, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

254

Investigation of the relation between the trunk and upper limb functions in DMD

Bulut, N., Alemdaroğlu, I., Karaduman, A., Topaloğlu, H., Yılmaz, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

255

Myofibrillar myopathies with autophagic vacuoles: Report of a case series

Ricci, G., Montano, V., Simoncini, C., Chico, L., Servadio, A., Dell'Osso, G., Santorelli, F., Savarese, M., Papa, V., Cenacchi, G., Siciliano, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

256

The brain diffusion tensor and voxel based morphometry imaging correlates with the phenotypic severity in myotonic dystrophy type 1

Park, J., Shin, J., Song, H., Lee, S., Chang, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

257

Bulgarian patient registry for Duchenne (DMD) and Becker (BMD) muscular dystrophy

Kastreva, K., Chamova, T., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

258

Is late-onset type II glycogenosis underdiagnosed in Brussels and Wallonia (Belgium)?

Remiche, G., Abramowicz, M., Pandolfo, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

259

Inclusion body myositis with granuloma: Case report

Vidal, N., Mera, L. González, Mañá, J., Povedano, M., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

260

The 24-month performance of upper limb (PUL) scale: Changes and steroids correlation in DMD

Mercuri, E., Pane, M., Palermo, C., D'amico, A., Messina, S., Battini, R., Bruno, C., Mongini, T., Pegoraro, E., D'Angelo, G., Pini, A., Gorni, K., Baranello, G., Bertini, E., Sormani, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

261

Skeletal muscle oxygenation in adults with RYR1-related myopathies: Exploratory study

Witherspoon, J., Drinkard, B., Arveson, I., Stockman, M., Jain, M., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

262

Transcriptome profiling identifies key pathways important in collagen VI related muscular dystrophies including differences between patients with dominant negative vs. null mutations

Butterfield, R., Dunn, D., Hu, Y., Bonnemann, C., Weiss, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

263

Case report: Non SMARD1 presentation of IGHMBP2 mutation with late onset diaphragmatic weakness

Kulshrestha, R., Willis, T., Sethuraman, K., Samuels, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

264

A POGLUT1 mutation causes a muscular dystrophy with reduced notch signaling and satellite cell loss

Servian-Morilla, E., Mavillard, F., Cantero-Nieto, G., Takeuchi, H., Clarimon, J., Bigot, A., Fernández-Chacón, R., Haltiwanger, R., Jafar-Nejad, H., Paradas, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

265

Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

Seferian, A., Quicke, G., Gidaro, T., Gargaun, E., Gasnier, E., Pereon, Y., Daron, A., Cances, C., Vuillerot, C., Goemans, N., Laugel, V., Cuisset, J., Schara, U., Marquet, A., Chabanon, A., Annoussam

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

266

Laminopathies: Why make it simple when it can be complex?

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 199 KB

english, 2016

267

Bone health in Duchenne muscular dystrophy

Peay, H., Martin, A., Ruddle, P., Lavigne, J., Kinnett, K., Lucas, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

268

Comprehensive screening for genetic diagnosis in large Japanese congenital myopathy cohort

Nishikawa, A., Mitsuhashi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

269

ERT efficacy in late onset Pompe disease

Xirou, S., Papadopoulos, C., Nikolakopoulou, V., Michelakaki, H., Spengos, K., Karandreas, N., Manta, P., Papadimas, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

270

Pilot data evaluating the utility of ACTIVE-mini as a biomarker in spinal muscular atrophy type 1

Alfano, L., Soran, B., Berry, K., Miller, N., Steele, K., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

271

DM2-linked myopathy caused by uninterrupted short (CCTG)50–70 repeat expansion in CNBP

Suominen, T., Bachinski, L., Raheem, O., Haapasalo, H., Kress, W., Krahe, R., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

272

Proteasomal proteolysis is indispensable for the maintenance of skeletal muscle and muscle stem cells

Suzuki, N., Kitajima, Y., Tashiro, Y., Ono, H., Ando, R., Osana, S., Nunomiya, A., Nagatomi, R., Takahashi, R., Aoki, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

273

Integrated prospective results from the deflazacort clinical program suggest less severe psychiatric adverse events with deflazacort versus prednisone in Duchenne muscular dystrophy

Dubow, J., Sazani, P., Cunniff, T., Wanaski, S., Meyer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

274

Relative bioavailability of 21-desacetyldeflazacort after oral administration of various deflazacort formulations and dosing conditions in healthy volunteer subjects

Wanaski, S., Brantley, S., Grasfeder, L., Dubow, J., Beers, B., Kernbauer, E., Wells, C., Cunniff, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

275

A novel mutation in collagen VI as a cause for inter-generational and intra-generational phenotypic heterogeneity in myopathies related to collagen-VI

Mendez del Barrio, C., Servian Morillo, E., Carbonell Corvillo, P., Villarreal, L., Rivas, E., Paradas López, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

276

X-linked myotubular myopathy in ambulant patients

Annoussamy, M., Chë, V., Lilien, C., Gidaro, T., Daron, A., Mayer, M., Arnal, J., Wallgren-Pettersson, C., Biancalana, V., Laporte, J., Hogrel, J., Ramsdell, D., Landy, H., Buj-Bello, A., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

277

Solving a puzzle: Incidentally detected high creatine kinase level combined with a family history of cardiomyopathy and sudden unexplained death leading to diagnosis of LMNA mutation

Genc, H. Maras, Ardicli, D., Haliloglu, G., Talim, B., Alikasifoglu, M., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

278

Diagnostic utility of MxA expression for dermatomyositis

Uruha, A., Nishikawa, A., Tsuburaya, R., Suzuki, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

279

Neuroimaging signatures of alpha-dystroglycanopathies (ADG): A pictorial review

Ardicli, D., Gocmen, R., Cirak, S., Karakaya, M., Haliloglu, G., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

280

A novel homozygous desmin nonsense mutation causes pediatric onset autosomal recessive desminopathy with severe cardiomyopathy

Tian, C., Fuller, C., Miles, L., Jefferies, J., Ryan, T., Sawnani, H., Bolger, A., Wong, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

281

Jellification of medicine after simple suspension method for muscular dystrophy patients with dysphagia

Arahata, H., Ito, C., Sakai, M., Umemoto, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

282

Antioxidant therapy in RYR1-related myopathies

Arveson, I., Witherspoon, J., Drinkard, B., Waite, M., Razaqyar, M., Tounkara, F., Elliott, J., Shelton, M., Jain, M., Bonnemann, C., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

283

Desminopathy in Chile, first cases reported

Bevilacqua, J., Gonzalez-Quereda, L., Castiglioni, C., Zamorano, I., Acevedo, L., Díaz, J., Rodríguez, M., Trangulao, A., Rivera, M., Gallano, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

284

Muscle atrophy and regeneration impairment of anti-SRP and anti-HMGCR Abs in necrotizing autoimmune myopathies

Arouche-Delaperche, L., Allenbach, Y., Amelin, D., Stenzel, W., Butler-Browne, G., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

285

Mobility shift of beta-dystroglycan combined with reduced laminin alpha2 expression is a marker of genetic defects in the GMPPB gene

Torelli, S., Sarkozy, A., Mein, R., Yau, M., Hammans, S., Radunovic, A., Henderson, M., Walker, M., Marino, S., Winder, S., Feng, L., Phadke, R., Sewry, C., Bushby, K., Muntoni, F., Barresi, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

286

Reversing mdx cardiomyocyte hypertrophy in vitro

Carr, S., Ritso, M., Roos, A., Laval, S., Krebs, S., Graf, A., Blum, H., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

287

Myoclonic epilepsy with ragged red fibers syndrome mimicking myotonic dystrophy type 2: The need of genetic diagnosis

Lusakowska, A., Tonska, K., Sulek, A., Krysa, W., Szmidt-Salkowska, E., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

288

EMG diagnosis of McArdle disease with long exercise test

Semplicini, C., Arzel-Hézode, M., Stojkovic, T., Béhin, A., Leonard-Louis, S., Eymard, B., Laforêt, P., Fournier, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

289

Evaluation of swallowing pressure in patients with neuromuscular disorder using high-resolution manometry system

Suh, J., Park, D., Kim, H., Shin, C., Ryu, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

290

Hereditary inclusion body myopathy in Turkish sisters with a novel mutation in the GNE gene

Diniz, G., Secil, Y., Ceylaner, S., Tokucoglu, F., Ture, S., Celebisoy, M., Kurt Incesu, T., Akhan, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

291

Electrical impedance myography in Duchenne muscular dystrophy detects disease progression in boys younger than 7 years of age

Darras, B., Wu, J., Zaidman, C., Kapur, K., Yim, S., Pasternak, A., Madabusi, L., Szelag, H., Harrington, T., Li, J., Pacheck, A., Rutkove, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

292

Collagen VI and endotrophin regulate glucose homeostasis in skeletal muscle

Rodriguez, M., Osorio-Conles, O., Montori-Grau, M., Fernández, G., Kalko, S., Puigdelloses, M., Jou, C., Ortez, C., Nascimento, A., Colomer, J., Jiménez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

293

Stabilised alpha helical peptides: A novel platform for enhanced antisense oligonucleotide delivery

Eilers, W., Gadd, A., Foster, H., Cobb, A., Foster, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 186 KB

english, 2016

294

Development of a proxy motor outcome measurement scale in young children with neuromuscular disorders

Arveson, I., Shelton, M., Tonkura, F., Bendixen, R., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

295

Respiratory function in eteplirsen-treated Duchenne muscular dystrophy (DMD) patients compared to natural history

Kinane, B., Mayer, O., Lowes, L., Khan, N., Gallitano, K., Duda, P., Mendell, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

296

CAT-1004, an oral agent targeting NF-kB: MoveDMD trial results in Duchenne muscular dystrophy (DMD)

Finanger, E., Vandenborne, K., Finkel, R., Sweeney, H., Tennekoon, G., Yum, S., Mancini, M., Danis, J., Bista, P., Nichols, A., Donovan, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

297

Prednisolone therapy reduces incidence of mononuclear T-cell infiltrates after AAV transduction of GALGT2 in the rhesus macaque

Cramer, M., Martin, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 213 KB

english, 2016

298

TRPV4 gene polymorphism as a phenotype modifier in a family with COL6-linked Bethlem myopathy

Leonard-Louis, S., Latour, P., De Becdelievre, A., Themar-Noel, C., Fournier, E., Stojkovic, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

299

Sarcomeric signalling proteins: Hubs for mechanosensation and hotspots for inherited myopathies

Gautel, M., Rees, M., Nikoopour, R., Fukuzawa, A., Fraternali, F., Laddach, A., Pernigo, S., Holt, M., Steiner, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 435 KB

english, 2016

300

Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools

Scotton, C., Schwartz, E., Falzarano, M., Bovolenta, M., Rossi, R., Armaroli, A., Osman, H., Gualandi, F., Neri, M., Lochmuller, H., Pesole, G., Sabatelli, P., Merlini, L., Bonaldo, P., Muntoni, F., G

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 213 KB

english, 2016

301

Novel mutation in TRIM32 is associated to a distal myopathy and disrupted myogenesis

Servian-Morilla, E., Carvajal, A., Rivas-Infante, E., Paradas, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

302

LGMD2I elicits a specific skeletal muscle immune response

Schara, U., Brand, L., Preusse, C., von Moers, A., Kölbel, H., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

303

Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy

James, M., Mayhew, A., Eagle, M., Moore, U., Muni Lofra, R., Bettinson, K., Harris, E., Bushby, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

304

A novel DNAJB6 mutation causing variable phenotypic expression: From distal myopathy to limb girdle muscular dystrophy

Stojkovic, T., Bedat-Millet, A., Chapon, F., Malfatti, E., Romero, N., Brochier, G., Laquerriere, A., Penttila, S., Jonson, P., Palmio, J., Hackman, P., Udd, B., Eymard, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

305

Limb-girdle muscular dystrophy 1 G (LGMD1G) with numerous rimmed vacuoles due to a defect in the RNA-binding protein HNRNPDL – Report of an Argentinian family of Italian ancestry

Lornage, X., Romero, N., Laporte, J., Dubrovsky, A., Barroso, F., Saccoliti, M., Taratuto, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

306

Comparing clinical phenotype of patients with Duchenne muscular dystrophy with deletions amenable to skipping exons 44, 45, and 53

Wang, S., Wong, B., McDonald, C., Yang, Y., Goemans, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

307

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: Validation analysis of DMD mutations

Okubo, M., Minami, N., Goto, K., Noguchi, S., Mitsuhashi, S., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

308

Cryptic splice site activation by a splice donor site mutation of dystrophin intron 64 is determined by intronic splicing regulatory elements

Niba, E., Nishuda, A., Tran, V., Vu, D., Matsumoto, M., Awano, H., Lee, T., Takeshima, Y., Nishio, H., Matsuo, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

309

Qualitative comparison of healthy versus affected muscles by ultrasound imaging in RYR1-related myopathies

Razaqyar, M., Butrum, J., Witherspoon, J., Tounkara, F., Shelton, M., Elliott, J., Arveson, I., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

310

Detection of early change in Fukuyama congenital muscular dystrophy by STIR skeletal muscle MRI

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

311

Pattern analysis in Korean patients with distal myopathy using lower-limb MRI

Park, H., Lee, J., Na, S., Park, K., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

312

Getting the picture of facioscapulohumeral muscular dystrophy: Muscle magnetic resonance imaging and ultrasound

Mul, K., Horlings, C., Vincenten, S., Voermans, N., van Alfen, N., van Engelen, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

313

Quantitative assessment of muscle involvement in limb girdle muscular dystrophy 2B

Nakayama, S., Ishiyama, A., Kuru, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

314

High fat infiltration and increased muscle T2 measured by 1H-NMR in a new dysferlinopathy murine model

Gerhalter, T., Martins-Bach, A., Baudin, P., Marty, B., Schoewel, V., Spuler, S., Carlier, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

315

Revised Hammersmith scale for spinal muscular atrophy: Longitudinal changes over six and twelve months in a large international cohort

Ramsey, D., Scoto, M., Mayhew, A., Main, M., Mazzone, E., Montes, J., Dunaway, S., Salazar, R., Glanzman, A., Pasternak, A., Duong, T., Gee, R., Civitello, M., Bushby, K., Day, J., Darras, B., De Vivo

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

316

Two novel BICD2 mutations occurring de novo in sporadic Finnish SMALED2 patients

Penttilä, S., Caminiti, D., Palmio, J., Jokela, M., Alen, R., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

317

Screening for late onset Pompe disease – Single center experience

Kostera-Pruszczyk, A., Potulska-Chromik, A., Lusakowska, A., Macias, A., Ryniewicz, B., Nowakowska-Jastrzębska, A., Jastrzebski, M., Kaminska, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

318

Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Chamova, T., Sinigerska, I., Gospodinova, M., Bojinova, V., Guergueltcheva, V., Genov, K., Staykov, I., Dimitrova, H., Bogdanova, D., Kaprelyan, A., Todorov, T., Todorova, A., Tournev, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 205 KB

english, 2016

319

Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations

Johnson, K., Bertoli, M., Phillips, L., Töpf, A., Claeys, K., Rakocevic Stojanovic, V., Perić, S., Vissing, J., Hahn, A., Maddison, P., Akay, E., Bastian, A., Łusakowska, A., Lek, M., Xu, L., MacArthu

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 210 KB

english, 2016

320

Interest of whole-body muscle MRI for the diagnosis of Pompe disease in rigid spine syndrome and differential diagnosis

Cavassa, E., Tordjman, M., Ferreiro, A., Dabaj, I., Malfatti, E., Benezit, A., Monges, S., Bonne, G., Vazquez, G., Taratuto, A., Laforet, P., Cejas, C., Metay, C., Romero, N., Carlier, R., Quijano-Roy

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

321

Long-term outcome of juvenile myasthenia gravis: A nationwide population based study

Popperud, T., Boldingh, M., Heldal, A., Kerty, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

322

Novel homozygosity of c.1508insC mutation in DOK7 causes congenital myasthenia with variable severity

Palmio, J., Penttilä, S., Suominen, T., Kirjavainen, J., Kiviranta, P., Saarela, J., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

323

Titin gene mutations presenting as centronuclear myophathies

Juntas Morales, R., Walther Louvier, U., Cances, C., Rigau, V., Rivier, F., Cossee, M., Zenagui, R., Peyroulan, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

324

The genetic panorama in titin gene by re-sequencing projects

Savarese, M., Evila, A., Torella, A., Arumilli, M., Nigro, V., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

325

Complex processing of titin C-terminus by alternative cleavage of the is7 domain

Vihola, A., Luque, H., Jonson, P., Sarparanta, J., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

326

Expression of multisystem proteinopathy (MSP) proteins in rimmed vacuolated fibers of tibial muscular dystrophy – Distal titinopathy

Lindfors, M., Huovinen, S., Haapasalo, H., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

327

Desmin-associated myofibrillar myopathy with cap-like structures in the muscle biopsy

Silva, A., Estephan, E., Moreno, C., Mendonça, R., Nishimura, P., Galindo, L., Carvalho, M., Abath-Neto, O., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

328

Clinical, pathologic, genetic features of congenital myopathies

Lee, H., Kim, S., Lee, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

329

Hereditary myopathies with early respiratory failure

Naddaf, E., Milone, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

330

Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

Annoussamy, M., Lilien, C., Gidaro, T., Gargaun, E., Chê, V., Schara, U., Gangfuss, A., Daron, A., Cuisset, J., Mayer, M., Arnal, J., Hernandez, A., Vuillerot, C., Fontaine, S., Biancalana, V., Buj-Be

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

331

AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy

Danièle, N., Moal, C., Julien, L., Jamet, T., Joubert, R., Martin, S., Vignaud, A., Lawlor, M., Buj-Bello, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

332

A new homozygous frameshifting mutation in SPEG causes mild centronuclear myopathy

Kaçar Bayram, A., Per, H., Zorludemir, S., Wang, H., Gumus, H., Çırak, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

333

Pediatric presentation of Marinesco–Sjögren syndrome with a novel SIL1 mutation in two siblings

Kaçar Bayram, A., Bayram, N., Çırak, S., Doğanay, S., Gumus, H., Per, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

334

Natural history of pulmonary function in steroid treated patients with Duchenne muscular dystrophy (DMD)

Wong, B., Darmahkasih, A., Hu, S., Horn, P., Bange, J., Rybalsky, I., Shellenbarger, K., Tian, C., Sawnani, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

335

Current status of dystrophinopathy national registry in Japan

Kimura, E., Mori-Yoshimura, M., Mitsuhashi, S., Takeuchi, F., Nakamura, H., Komaki, H., Nishino, I., Kawai, M., Takeda, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

336

Gut transit in patients with DMD is normal: Results of study using a wireless motility capsule

Kraus, D., Wong, B., Rybalsky, I., Shellenbarger, K., Hu, S., Kaul, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

337

Gastric dysmotility in Duchenne muscular dystrophy: Distribution of dystrophin and utrophin in gastric musculature

Fuller, C., Wong, B., Shellenbarger, K., Reuss, J., Hackett, C., Leino, D., Kaul, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

338

Bone health monitoring clinical laboratory and image evaluation in Duchenne muscular dystrophy with steroid treatment

Escobar, R., Ocon, A., Renan, S., Martinez, E., Lopéz, L., Goméz, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

339

Renal impairment in two patients with Duchenne muscular dystrophy

Alhaswani, Z., Thomas, C., Roper, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

340

The relationship between postural alignment and physical performance in boys with Duchenne muscular dystrophy

Bozgeyik, S., Karaduman, A., Yılmaz, O., Topaloğlu, H., Alemdaroğlu, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

341

Pain and fatigue in manifesting carriers of Duchenne and Becker muscular dystrophy

Drivsholm, P., Werlauff, U.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

342

Growth patterns and fractures in boys with Duchenne muscular dystrophy: Insights from over 800 boys in the UK North Star cohort

Joseph, S., Bushby, K., Guglieri, M., Horrocks, I., Ahmed, S., Wong, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

343

The Duchenne connect experience with a pain interference patient reported outcome measure

Lucas, A., Lavigne, J., Kinnett, K., Martin, A., Peay, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

344

Radiologically confirmed fractures in a Scottish nationwide cohort of boys with Duchenne muscular dystrophy

Joseph, S., Di Marco, M., Abu-Arafeh, I., Baxter, A., Cordeiro, N., McLellan, L., McWilliam, K., Naismith, K., O'Hara, A., Horrocks, I., Ahmed, S., Wong, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

345

Effects of glucocorticoid treatment in an adult population of Duchenne muscular dystrophy patients attending the neuromuscular complex care centre: An observational study

Desikan, M., Nastasi, L., Quattrochi, G., Scalco, R., Hanna, M., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

346

Atypical phenotype of DMD carrier

Haberlova, J., Fajkusová, L., Zámečník, J., Hedvičáková, P., Dvořáková, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

347

Beyond the skeletal muscle: Caregiver and patient preferences for treatment targets for Duchenne/Becker muscular dystrophy

Peay, H., Hollin, I., Bridges, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 202 KB

english, 2016

348

A single neonatal delivery of an exon 2 directed AAV9.U7snRNA vector results in long-term dystrophin expression that prevents pathologic features in the Dup2 mouse

Wein, N., Simmons, T., Gumienny, F., Yurkoski, J., Huang, N., Muntoni, F., Flanigan, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 199 KB

english, 2016

349

PCR-restriction-based strategies allow genotyping without sequencing of several allelic variants of the mdx mouse that carry point mutations

Neff, L., Gayi, E., Scapozza, L., Dorchies, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

350

Toward generating new dystrophic mouse mutants by homologous recombination using dimeric RNA-guided FokI-dCas9 nucleases

Neff, L., Scapozza, L., Dorchies, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

351

Gene editing using CRISPR/Cas9 in neuromuscular disorders

Gonorazky, H., Maani, N., Khattak, S., Ivakine, Z., Cohn, R., Dowling, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

352

Study of myogenic potential of extra cellular vesicles in murine models for muscular dystrophies

Ayub-Guerrieri, D., Ribeiro, A., Ishiba, R., Yumi, L., Semedo-Kuriki, P., Vainzof, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 186 KB

english, 2016

353

Controversial preclinical results in neuromuscular animal models: Are they related to differences in mesenchymal stromal cells (MSCs) secretome?

Assoni, A., Coatti, G., Beccari, M., Gomes, J., Cardozo, K., Neto, M., Carvalho, V., Zatz, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 186 KB

english, 2016

354

Omega-3 improves myoblast transplantation and modulates Notch and Wnt signaling in the mdx mouse model of DMD

de Carvalho, S., Hindi, S.M., Santo Neto, H., Kumar, A., Marques, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

355

Lack of estrogens impairs motor function and muscle structure in dystrophic mice

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

356

Utrophin modulation for the treatment of cardiomyopathy in mdx mice

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 197 KB

english, 2016

357

Combined therapy with deflazacort and doxycycline is superior than deflazacort monotherapy in alleviating dystrophic phenotype in long-term therapy: A pre-clinical study

Pereira, J. Alves, Marques, M., Neto, H. Santo

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

358

Contractile weakness in NEM3 patients is caused by dysfunctional sarcomeres

Joureau, B., de Winter, J., Conijn, S., Malfatti, E., Yuen, M., Clarke, N., Romero, N., Rassier, D., Beggs, A., Ottenheijm, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

359

Exome sequencing identifies a novel MYH7 mutation in a patient with nemaline myopathy and cardiomyopathy

Malfatti, E., Lornage, X., Behin, A., Laforet, P., Bohm, J., Brochier, G., Fardeau, M., Laporte, J., Romero, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

360

Local muscle strength, oxygen extraction capacity, and exercise capacity in adults with RYR1-related myopathies: Exploratory study

Witherspoon, J., Drinkard, B., Waite, M., Arveson, I., Stockman, M., Jain, M., Meilleur, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

361

Ryanodine-related myopathies: Clinical, histopathologic and genetic heterogeneity among 16 patients from a Portuguese tertiary centre

Samões, R., Oliveira, J., Taipa, R., Gonçalves, A., Cardoso, M., Coelho, T., Melo-Pires, M., Santos, R., Santos, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 202 KB

english, 2016

362

Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation

Munell, F., Sanchez-Montáñez, A., Quijano-Roy, S., Gratacos, M., Martinez-Saez, E., Ferrer Aparicio, S., Gomez Garcia de la Banda, M., Urreizti, R., Grinberg, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

363

Congenital fiber type disproportion myopathy and novel compound heterozygous mutations in the RYR1 gene. Next generation sequencing – A first line diagnostic tool for congenital myopathy

Takamura, K., Dalton, J., Karachunski, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

364

OPALE: A patient registry for laminopathies and emerinopathies in France

Yaou, R. Ben, Vigouroux, C., Quijano-Roy, S., Campanna-Salort, E., Cintas, P., Cuisset, J., Juntas-Morales, R., Labombarda, F., Nadaj-Pakleza, A., Pereon, Y., Sole, G., Vantyghem, M., Richard, P., Let

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

365

LMNA-associated congenital muscular dystrophy: 3 cases presenting dropped head syndrome

Ferreira, J., Ribeiro, M., Moreno, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

366

Nesprinopathies: A wide clinical range of phenotypes and characteristic ultrastructural findings

Kölbel, H., Schwartz, O., Neuen-Jacob, E., Abicht, A., Weis, J., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

367

Spectrin repeat-containing nuclear envelope protein 2: SYNE2 presenting as a congenital myopathy: A case report

Bamaga, A., Vajsar, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

368

Pathology of criocopharyngeal muscles in oculopharyngeal muscular dystrophy (OPMD): A quantitative histological and histochemical study

Rivas, E., Avila, R., Marquez, C., Paradas, C., Castellanos, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

369

Marked clinical variability with FIG4 mutations presenting as acquired neuropathies

Warman Chardon, J., Bourque, P., Massie, R., Rakhra, K., Sampaio, M., McMillan, H., Boycott, K., Dyment, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

370

Simultaneous MFN2 and GDAP1 gene mutation cause severe Charcot–Marie–Tooth type 2 phenotype

Anghelescu, C., Cardas, R., Mantel, A., Aubourg, P., Servais, L., Gidaro, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

371

Pathologically and genetically diagnosed familial amyloid polyneuropathy

Kim, M., Kim, H., Park, J., Shin, J., Kim, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

372

Rituximab for the treatment of anti-HMGCR necrotizing autoimmune myopathy

Landon-Cardinal, O., Allenbach, Y., Rigolet, A., Simon, A., Champtiaux, N., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

373

Autoimmune myopathy with cardiac involvement associated with antimitochondrial antibodies

González Mera, L., Kapetanovic, S., Torné Hernández, L., Jericó Pascual, I., Hernández Lain, A., Vergés, E., Vidal, N., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

374

Myopathy associated with anti-signal recognition particle antibodies; diagnosis and management in Egyptian patients: Case report

El Sherif, R., Nishino, I., Uruha, A., Suzuki, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

375

The pathogenesis of dermatomyositis associated to MDA5 autoantibodies: An in vitro and in vivo study

Suárez-Calvet, X., Toquet, S., Danel, C., Couvelard, A., Roland, P., Uzunhan, Y., Balada, E., Selva-O'Callaghan, A., Allenbach, Y., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

376

Signal abnormalities of muscle and fascia in muscular MRI imaging at pretreatment stage in children with juvenile dermatomyositis

Ishiyama, A., Shibuya, I., Motohashi, Y., Takeshita, E., Komaki, H., Sugai, K., Sasaki, M., Mitsuhashi, S., Noguchi, S., Nonaka, I., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

377

Assessment of intra-oral structure and swallowing function in pediatric neuromuscular disorders

Kılınç, H., Bulut, N., Alemdaroğlu, I., Yılmaz, O., Topaloğlu, H., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

378

Implementation and process evaluation of the energetic study

Veenhuizen, Y., Cup, E., Satink, T., Groothuis, J., van Engelen, B., Nijhuis-van der Sanden, M., Guerts, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

379

Tele-Assistance in pediatric neuromuscular disorders requiring home mechanical ventilation, multicentric study

Trucco, F., Pedemonte, M., Racca, F., Falsaperla, R., Romano, C., Wenzel, A., Tacchetti, P., Bella, C., Bruno, C., Minetti, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

380

Repetitive nerve stimulation as electrophysiologic biomarker in muscle cramps

Shin, J., Yoo, D., Kim, D., Hong, Y., Sung, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

381

Paravertebral muscles in adolescent idiopathic scoliosis: mRNA expression of melatonin receptors 1A/1B, calmodulin, and estrogen receptor-2

Zamecnik, J., Krskova, L., Hacek, J., Stetkarova, I., Krbec, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

382

Sporadic late-onset nemaline myopathy in an aged patient

Morgado Linares, R., Rivas Infante, E., Avila Polo, R., Paradas Lopez, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

383

Necrotizing myopathy, an ocular myasthenic syndrome and subclinical myocarditis associated with pembrolizumab treatment for metastatic melanoma

Berfelo, F., Wilgenhof, S., Brandsma, D., Aronica, E., van der Kooi, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

384

Challenges developing therapies for inclusion body myositis

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 185 KB

english, 2016

385

Research for the pathogenesis and therapy of dysferlinopathy using proteomics approach

Ono, H., Suzuki, N., Kanno, S., Miyake, K., Kitajima, Y., Izumi, R., Takahashi, T., Warita, H., Yasui, A., Aoki, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

386

Gene variants in SMCHD1 and DNMT3B modify the risk for FSHD

Van der Maarel, S., Van den Boogaard, M., Lemmers, R., Balog, J., Mitsuhashi, S., Kriek, M., Wohlgemuth, M., Van der Kooi, E., Auranen, M., Udd, B., Van Tol, M., Nishino, I., Tawil, R., Tapscott, S.,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

387

Clinical safety of eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), in Duchenne muscular dystrophy (DMD) patients amenable to skipping exon 51 of the DMD gene

Mendell, J., Powers, J., Duda, P., Eliopoulos, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

388

HT-100 increases muscle strength and is safe at low doses in DMD ambulant and non-ambulant boys: Results of HALO-DMD-01 and HALO-DMD02 clinical trials

Escolar, D., Britton, A., Loewy, J., Dykstra, K., Poggio, E., Bush, E., Blaustein, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

389

Development of digital tissue image analysis solution for muscle biopsies in support of disease-modifying therapies for Duchenne muscular dystrophy

Tinsley, J., Pulliam, C., Milici, A., Aeffner, F., Davies, K., Moore, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

390

Translational development of rimeporide, a sodium-hydrogen exchanger (NHE-1) inhibitor, for patients with Duchenne muscular dystrophy

Porte Thomé, F., Su, J., Barthelemy, I., Blanchard-Gutton, N., Bkaily, G., Yu, Q., Nagaraju, K., Galeh, B., Blot, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

391

Jagged1 as a modifier of the DMD phenotype: What is next?

Vieira, N., Assoni, A., Elvers, I., Alexander, M., Eran, A., Marshall, J., Verjovski-Almeida, S., Lindblad-Toh, K., Kunkel, L., Zatz, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 198 KB

english, 2016

392

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 212 KB

english, 2016

393

A phase III double-blind, randomized, placebo-controlled study (SIDEROS) assessing the efficacy of idebenone in slowing the rate of respiratory function loss in patients with Duchenne muscular dystrophy receiving glucocorticoid steroids

Buyse, G., Mayer, O., Donisa-Dreghici, R., Couttet, F., Wolff, J., Coppard, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

394

RNA profiling discloses a link between circadian genes and muscle damage in Duchenne muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

395

N-terminal alpha dystroglycan (αDG-N): A potential serum biomarker for Duchenne muscular dystrophy

Crowe, K., Shao, G., Flanigan, K., Martin, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

396

Comparing biomarker expression between sub-populations of Duchenne muscular dystrophy patients, measured using immunostaining in muscle biopsies

Boekhoorn, K., Beekman, C., van Wijngaarden, S., Kreuger, D., Sipkens, J., de Kimpe, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

397

Dystrophin expression in the non-DMD population: What is normal?

Johnsen, R., Wilton, S., Fletcher, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

398

Next generation sequencing for neuromuscular disease in a diagnostic setting – The Perth custom neuromuscular gene panel 3 years on

Davis, M., Allcock, R., Laing, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

399

Association study reveals novel genetic risk factors associated with sporadic inclusion body myositis

Johari, M., Arumilli, M., Sandholm, N., Lohi, H., Hackman, P., Udd, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

400

Clinical and mutational spectrum of congenital muscular dystrophy with defective alpha-dystroglycan glycosylation in Korea

Cho, A., Lim, B., Kim, M., Kim, K., Chae, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

401

Evaluation of a panel of new monoclonal antibodies to α913-DG

Pagalday, V., Sewry, C., Morris, G., Brown, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

402

Japanese nationwide registry for Fukuyama congenital muscular dystrophy patients

Ishigaki, K., Ihara, C., Mori-Yoshimura, M., Murakami, T., Sato, T., Ishiguro, K., Shichiji, M., Nagata, S., Kaiya, H., Osawa, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

403

Severe Walker–Warburg syndrome associated with new mutation in ISPD gene identified with whole exome sequencing

Kaçar Bayram, A., Per, H., Gumus, H., Kumandas, S., Çağlayan, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

404

Congenital mirror movements in alpha-dystroglycanopathy (ADG) due to SGK196 mutation

Ardicli, D., Gocmen, R., Cirak, S., Talim, B., Haliloglu, G., Topaloglu, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

405

Clinical, radiological, and genetic survey of patients with muscle–eye–brain disease caused by mutations in POMGNT1

Yiş, U., Uyanık, G., Rosendahl, D., Çarman, K., Bayram, E., Heise, M., Cömertpay, G., Kurul, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

406

Changes in sarcomeric contractile function influence force generation in facioscapulohumeral muscular dystrophy

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

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

407

New criteria for assessing the achievement of upper limbs in FSHD patients

Gasnier, E., Gidaro, T., Grelet, M., Denis, S., Rigaud, A., Lilien, C., Seferian, A., Moraux, A., Dorveaux, E., Vissière, D., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

408

Assessment of lower limbs in FSHD: The ActiMyo as a new outcome for home-monitoring

Gidaro, T., Gasnier, E., Denis, S., Lilien, C., Grelet, M., Rigaud, A., Moraux, A., Dorveaux, E., Vissiere, D., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

409

FSHD with severe asymmetrical weakness of abdominal muscles

Straathof, C., Badrising, U.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

410

Muscle microdialysis in facioscapulohumeral muscular dystrophy

Tasca, G., Monforte, M., Corbi, M., Granata, G., Sgambato, A., Ricci, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

411

GNE myopathy: Characteristics of affected patients diagnosed in mainland France

Behin, A., Krahn, M., Maisonobe, T., Laforet, P., Stojkovic, T., Juntas Morales, R., Nadaj Pakleza, A., Campana-Salort, E., Attarian, S., Pouget, J., Ferrer, X., Urtizberea, A., Sacconi, S., Romero, N

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

412

ClinBio-GNE: A longitudinal clinical, functional and imaging evaluation of patients affected by GNE myopathy

Gidaro, T., Le Louer, J., Ollivier, G., Duchene, D., Baudin, P., Marty, B., Decostre, V., Reyngodt, H., Hogrel, J., Behin, A., Carlier, P., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

413

Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study

Tarnopolsky, M., Mozaffar, T., Behin, A., Gidaro, T., Pogoryelova, O., Connor, E., Koutsoukos, T., Tourney, I., Lochmuller, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

414

Clinical, muscle pathology and genetic features of GNE myopathy patients in Egypt: Case report

EL Sherif, R., Nishino, I., Nonaka, I., Zaitoon, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

415

The interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 is altered in GNE myopathy M743T mutant

Harazi, A., Becker-Cohen, M., Hinderlich, S., Mitrani-Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

416

Therapeutic development of ManNAc for GNE myopathy

Carrillo, N., Huizing, M., Quintana, M., Slota, C., Malicdan, M., Khatami, H., Berry, S., Gahl, W.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

417

Severe axial muscular involvement in Laing distal myopathy with a thumbprint finding on MRI

Dabaj, I., Araújo Martins Moreno, C., Abath Neto, O., Bertini, E., Castiglioni, C., Brandão Guimarães, J., Conti Reed, U., Mesrob, L., Lechner, D., Fiorillo, C., Malfati, E., Boland, A., Deleuze, J.,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

418

A novel MYH7 mutation causing the Laing distal myopathy in Andalucia

Carbonell Corvillo, P., Servián-Morilla, E., Tristán Clavijo, E., Gil-Gálvez, A., García Martín, G., Rivas Infante, E., Villarreal Pérez, L., Márquez Infante, C., Chamorro Muñoz, M., Cabrera Serrano,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

419

TBK1 exists with optineurin around rimmed vacuoles

Kurashige, T., Morino, H., Kanbara, T., Nagano, Y., Araki, M., Maruyama, H., Torii, T., Matsumoto, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

420

Exercise intervention in a family with exercise intolerance and a novel mutation in the mitochondrial POLG gene

Morán, M., Blázquez, A., Fiuza-Luces, C., Díez-Bermejo, J., Delmiro, A., Docampo, J., Serrano-Lorenzo, P., González-Quintana, A., Arenas, J., Laín-Hernández, A., Lucía, A., Domínguez-González, C., Mar

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 196 KB

english, 2016

421

Mild early epileptic encephalopathy evolving to spastic paraplegia, neurogenic bladder and generalized slow colon transit in an 18-year old patient with pathogenic mutations in FARS2

Vantroys, E., Smet, J., Vanlander, A., De Paepe, B., Vergult, S., Sante, T., Menten, B., Van Coster, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

422

Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4)

Tulinius, M., Kollberg, G., Darin, N., Oldfors, A., Asin-Cayuela, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

423

Two new cases of mitochondrial myopathy with exercise intolerance, lactic acidosis and cardiomyopathy, caused by recessive SLC25A4 mutations

Tosserams, A., Papadopoulos, C., Jardel, C., de Lonlay, P., Hogrel, J., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

424

Distinct myopathic phenotypes associated with two novel mutations at the anticodon stem pair 28T:42A of the MT-TN gene of the mtDNA

Blázquez, A., Domínguez-González, C., Delmiro, A., Rufián, L., Martin-Santidrian, M., Hernández-Laín, A., Jiménez, S., Serrano-Lorenzo, P., González-Quintana, A., Arenas, J., Morán, M., Martin, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

425

A case of AD-PEO with a significant decrease in dopamine transporter imaging

Kanbara, T., Kurashige, T., Tomimura, H., Haji, S., Sueda, Y., Torii, T.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

426

Metformin-induced deafness in mitochondrial disease

Brady, S., Quagbeheur, G., Diot, A., Dombi, E., Hofer, M., Parry, A., Butterworth, R., Poulton, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

427

Severe late onset mitochondrial myopathy caused by TK2 mutations

Gil, E. Vergés, Bayarri, J. Gascón, Carreño-Gago, L., García-Arumí, E., Plana, M. Olivé

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

428

Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency

Sánchez-Montañez, A., Martínez-Sáez, E., de la Banda, M. Gómez García, Julià, N., Quijano-Roy, S., Olivé, M., García-Arumí, E., Gratacós, M., Buendía, J., Delgado, I., Vázquez, E., Roig, M., Munell, F

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 206 KB

english, 2016

429

Systemic microangiopathy in Leber's hereditary optic neuropathy with nt 13708 and nt 3394 mutations

Lach, B., Mount, J., Shoubridge, E., Kosabek-Williams, B., Lee, F., Silva, V.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

430

Effect of deflazacort and prednisone versus placebo on pulmonary function in boys with Duchenne muscular dystrophy who have lost ambulation

Dubow, J., Cunniff, T., Wanaski, S., Meyer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

431

Effect of deflazacort and prednisone versus placebo on muscle strength in boys with Duchenne muscular dystrophy who have lost ambulation: Results from the deflazacort clinical trial program

Cunniff, T., Wanaski, S., Dubow, J., Meyer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

432

Clinical outcome of 22 years of daily deflazacort treatment in a 32-year-old patient with Duchenne muscular dystrophy

Tian, C., Shellenbarger, K., Jefferies, J., Sawnani, H., McMahon, M., Watts, N., Wong, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

433

Bone health in steroid treated Duchenne muscular dystrophy: A regional case series from the Southwest of the UK

Dawson, P., Vijyakumar, K., Majumdar, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

434

Development of a prognostic model for 1-year change in 6-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD)

Goemans, N., Signorovitch, J., Swallow, E., Song, J., Ward, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 203 KB

english, 2016

435

Does neck flexion muscle strength affect function status and performance in children with Duchenne muscular dystrophy?

Bozgeyik, S., Yılmaz, O., Alemdaroğlu, I., Topaloğlu, H., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

436

Hand grip strength as a predictor of general functional capacity in non-ambulatory children with Duchenne muscular dystrophy

Bulut, N., Alemdaroğlu, I., Yılmaz, Ö., Topaloğlu, H., Karaduman, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

437

Longitudinal results of magneto-inertial motion analysis in Duchenne muscular dystrophy ambulant patients

Seferian, A., Gargaun, E., Grelet, M., Gasnier, E., Lilien, C., Gillabert, S., Duchene, D., Voit, T., Domingos, J. Piscos, Guglieri, M., Straub, V., Leone, D., Mercuri, E., Laforet, G., Muntoni, F., D

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

438

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

Domingos, J., Eagle, M., Moraux, A., Butler, J., Decostre, V., Ridout, D., Mayhew, A., Selby, V., Guglieri, M., Van der Holst, M., Jansen, M., Verschuuren, J., de Groot, I., Niks, E., Servais, L., Hog

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

439

Assessment of grip strength in Duchenne muscular dystrophy

Hogrel, J., Moraux, A., Decostre, V., Ollivier, G., Canal, A., Lilien, C., Seferian, A., Gidaro, T., Servais, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

440

Revised North Star ambulatory assessment for young boys with Duchenne muscular dystrophy

Mercuri, E., Coratti, G., Messina, S., Ricotti, V., Baranello, G., D'amico, A., Pera, M., Albamonte, E., Palermo, C., Sivo, S., Mazzone, E., Fanelli, L., De Sanctis, R., Vita, G., Battini, R., Bertini

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

441

Cross-sectional data on the 100 meter timed test in boys with Duchenne muscular dystrophy compared to age-matched controls

Berry, K., Alfano, L., Miller, N., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

442

Evaluating the effect of a monetary incentive on performance of the 100-meter timed test in Duchenne muscular dystrophy

Alfano, L., Berry, K., Miller, N., Cripe, L., Flanigan, K., Mendell, J., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 208 KB

english, 2016

443

Promoting meaningful clinical trial outcome measures for Duchenne muscular dystrophy

Peay, H., Kennedy, A., Fischer, R., Bronson, A., Furlong, P.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

444

Serum biomarker discovery for congenital muscular dystrophies

Bharucha-Goebel, D., Collins, J., Hu, Y., Reghan Foley, A., Donkervoort, S., Leach, M., Dastgir, N., Vuillerot, C., Meilleur, K., Jain, M., Waite, M., Jacobson, S., Gordish, H., Rutkowski, A., Hoffman

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

445

The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood

Oliveira, J., Cardoso, M., Taipa, R., Gonçalves, A., Oliveira, M., Melo-Pires, M., Santos, M., Coelho, T., Santos, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

446

Recurrent respiratory failure in a patient with nemaline and myofibrillar myopathy features

Braksick, S., Fugate, J., Hocker, S., Engel, A., Selcen, D.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

447

Adult-onset myopathy with characteristic inclusions and autophagic vacuoles

Olive, M., Miralles, X., Baiges, J., Cabrera, M., Ravescroft, G., Laing, N., Moreno, D., Vidal, N.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

448

Intranuclear protein aggregation in myofibrillar myopathies

Dominguez Rubio, R., Martinez, A., Poza, J., García Bragado, F., Jericó, I., van der Ven, P., Fürst, D., Romero, N., Goldfarb, L., Olivé, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

449

LDB3/ZASP-related myofibrillar myopathy associated with marked phenotypic variability

Laneuville, M., Woulfe, J., Bourque, P., McMillan, H., Dyment, D., Warman Chardon, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

450

Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1

Saito, F., Okuma, H., Mitsui, J., Hara, Y., Hatanaka, Y., Ikada, M., Shimizu, T., Matsumura, K., Shimizu, J., Tsuji, S., Sonoo, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

451

A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy

Hedberg-Oldfors, C., Darin, N., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

452

Congenital myopathy with selective muscle atrophy, necklace-like fibres/central cores and craniosynostosis associated with recessive mutations in SCN4A

Gonorazky, H., Marshall, C., Hazrati, L., Männikkö, R., Ray, P., Yoon, G.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

453

Liver functional impairment in myotonic dystrophy type 1

Takada, H., Kon, S., Oyama, Y., Kimura, T., Nagahata, F.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

454

Unmet needs of people living with myotonic dystrophy: Data from a national, population-based study

Theadom, A., Mitchell, K., Roxburgh, R., Rodrigues, M., Taylor, T., Baker, R., Jones, K., Stewart, J., Poke, G., Hammond-Tooke, G., O'Grady, G., Love, D., Ranta, A., Ao, B. Te, Parmar, P., Vandal, A.,

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

455

A Japanese nationwide survey on congenital myotonic dystrophy

Shichiji, M., Ishigaki, K., Ishiguro, K., Sato, T., Murakami, T., Matsumura, T., Osawa, M., Nagata, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

456

NMR voxel-based morphometry and functional analysis as neural correlates of neuropsychological dysfunction in DM1

Siciliano, G., Baldanzi, S., Cecchi, P., Simoncini, C., Ricci, G., Fabbri, S., Lorio, R., Bevilacqua, F., Cosottini, M., Angelini, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

457

Biallelic mutations in UNC80 cause severe hypotonia, muscle weakness, growth retardation, and intellectual disability

Stray-Pedersen, A., Cobben, J., Prescott, T., Lee, S., Cang, C., Aranda, K., Ahmed, S., Alders, M., Gerstner, T., Aslaksen, K., Tétreault, M., Qin, W., Hartley, T., Jhangiani, S., Muzny, D., Tarailo-G

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 211 KB

english, 2016

458

A challenging diagnosis: McArdle disease with clinicopathological discordance

Diniz, G., Celik, C., Dikbas, O., Duman, A., Nursal, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

459

Proteomic characterization of polyglucosan bodies in patients with RBCK1 deficiency

Thomsen, C., Malfatti, E., Jovanovic, A., Roberts, M., Kalev, O., Lindberg, C., Oldfors, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

460

Long-term follow up of a benign congenital GBE1 deficiency: Report of three siblings

Ortez, C., Nascimento, A., Jimenez-Mallebrera, C., Jou, C., Llano, M., Rodriguez, A., Topf, A., Johnson, K., Straub, V., Olivé, M., Codina, A., Corbera, J., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

461

Late onset riboflavin responsive lipid myopathy with multiple acyl-CoA dehydrogenase deficiency: Report of four patients

Rojas-Marcos, I., Rubí, J., Blázquez, A., Carbonell, P., De Torres, R., Domínguez-Mayoral, A., Ávilla, R., Martín-Casanueva, M., Gutiérrez, C., Márquez-Infante, C., Rivas, E., Paradas, C., Domínguez-G

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

462

Riboflavin transporter deficiency diagnosed 30 years after onset of symptoms

van der Kooi, A., Jaeger, B., van Spaendonck, K., Bosch, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

463

Effect of anti-cytosolic 5′-nucleotidase 1A (NT5C1A) antibody on cultured muscle cells and muscle fibers of mice

Tawara, N., Yamashita, S., Korogi, M., Zhang, X., Doki, T., Nakane, S., Maeda, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

464

Effect of anti-cytosolic 5′-nucleotidase 1A (NT5C1A) antibody on cultured muscle cells and muscle fibers of mice

Tawara, N., Yamashita, S., Korogi, M., Zhang, X., Doki, T., Nakane, S., Maeda, Y., Ando, Y.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

465

Autoimmune rippling muscle disease: IgG antibodies bind to human muscle fibers

Güttsches, A., Tegenthoff, M., Kley, R., Vorgerd, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

466

Nemaline myopathy related to HIV infection with a good response to immunosuppression

Silva, A., Mendonça, R., Estephan, E., Moreno, C., Carvalho, M., Zanoteli, E.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

467

Schisandrae fructus enhances myogenic differentiation and inhibits atrophy through protein synthesis in human myotubes

Kim, H., Shin, J., Kim, D., Kim, C., Kim, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

468

The development of new equations to estimate ventilator setting in patients with neuromuscular disease

Park, D., Lee, G., Kim, H., Ryu, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

469

Quality of care in the first neuromuscular complex care centre in the UK from the patients' perspective

Nastasi, L., Desikan, M., Turner, C., Parton, M., Morrow, J., Carr, A., Manji, H., Hanna, M., Quinlivan, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

470

Database crossing allows better understanding of neuromuscular disorders epidemiology: The Belgian example

Bleyenheuft, C., Van Damme, P., Goemans, N., De Bleecker, J., Van Coster, R., De Jonghe, P., Beysen, D., Van den Bergh, P., Christiaens, F., Maertens de Noordhout, A., Haan, J., De Meirleir, L., Remic

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

471

MRC biobank Newcastle – A five-year review of the John Walton Muscular Dystrophy Research Centre experience

Roos, A., Cox, D., Reza, M., Guglieri, M., Straub, V., Lochmüller, H.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

472

Molecular diagnosis of genetic muscle disorders in New Zealand

Rodrigues, M., Poke, G., Roxburgh, R., Flintoff, K., Love, D., Parkes, E., Bawden, S., Oates, S., Theadom, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 189 KB

english, 2016

473

Delayed-onset Clevudine-induced myopathy: A case report

Yoo, D., Shin, J.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

474

What motivates patients' relatives to undergo genetic testing in search of a pathogenic mutation?

Forbes, J., Padovan, E., Fonseca, F., Mouzat, A., Rüdiger, D., Macedo, E., Andrade, H., Araujo, H., Lagonegro, L., Lise, L., Naccache, M., Valladares, T., Genesini, T., Pavanello, R., Zatz, M.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

475

MRI as a biomarker for DMD disease progression and implications for clinical trials

Sweeney, H., Vandenborne, K., Walter, G., Rooney, B.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

476

Prolonged benefit from systemic rAAV8 in a canine model of myotubular myopathy

Elverman, M., Mack, D., Poulard, K., Goddard, M., Snyder, J., Grange, R., Latournerie, V., Veron, P., Meng, H., Mingozzi, F., Lawlor, M., Beggs, A., Childers, M., Buj-Bello, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 193 KB

english, 2016

477

Oedematous myositis: An original subtype of autoimmune myopathy characterised by intense C5-b9 deposits

Allenbach, Y., Duchesne, M., Léonard-Louis, S., Maisonobe, T., Dubourg, O., Hervier, B., Benveniste, O.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 184 KB

english, 2016

478

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 95 KB

english, 2016

479

Large copy number variants are common in the nebulin gene

Pelin, K., Lehtokari, V., Sagath, L., Wallgren-Pettersson, C., Kiiski, K.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 190 KB

english, 2016

480

Filamin C myofibrillar myopathy: Changes in autophagy both cause and can treat the disease

Ruparelia, A., Oorschott, V., Ramm, G., Bryson-Richardson, R.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 204 KB

english, 2016

481

Gene replacement therapy as a novel approach for the treatment of oculopharyngeal muscular dystrophy

Malerba, A., Klein, P., Bachtarzi, H., Jarmin, S., Ferry, A., Graham, M., Strings, V., Butler-Browne, G., Suhy, D., Dickson, G., Trollet, C.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 191 KB

english, 2016

482

Genetic landscapes in neuromuscular disorders: The influence of next-generation sequencing analysis

Neri, M., Scotton, C., Gualandi, F., Wirth, B., Schols, L., Klockgether, T., Lochmuller, H., Muntoni, F., D'Amico, A., Bertini, E., Pane, M., Mercuri, E., Ferlini, A.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 192 KB

english, 2016

483

A comparison of the effects of deflazacort and prednisone versus placebo on timed functional tests in boys with Duchenne muscular dystrophy

Meyer, J., Dubow, J., Cunniff, T., Wanaski, S.

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 188 KB

english, 2016

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