Volume 29

Neuromuscular Disorders

Volume 29

1

Book Review

Damian, Heidelinde

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 161 KB

english, 2019

2

Critical Review Ahead of Publication

Dubowitz, Victor

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 198 KB

2019

3

Longitudinal study of upper extremity reachable workspace in fascioscapulohumeral muscular dystrophy

Hatch, Maya N., Kim, Kiin, Kurillo, Gregorij, Nicorici, Alina, McDonald, Craig M., Han, Jay J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 2.25 MB

english, 2019

4

Normative data and percentile curves for the three-minute walk test and timed function tests in healthy Caucasian boys from 2.5 up to 6 years old

Hoskens, Jasmine, Goemans, Nathalie, Feys, Hilde, De Waele, Liesbeth, Van den Hauwe, Marleen, Klingels, Katrijn

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 2.25 MB

english, 2019

5

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019

Poulton, Joanna, Steffann, Julie, Burgstaller, Joerg, McFarland, Robert

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 405 KB

english, 2019

6

238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018

Bourke, John P., Guglieri, Michela, Duboc, Denis, Aartsma-Rus, Annemieke, Bandali, Alykhan, Bennett, Neil, Bourke, John P., Cools, Bjorn, Cripe, Linda, de Groot, Imelda, Dittrich, Sven, Duboc, Denis,

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 413 KB

english, 2019

7

Normative data and percentile curves for the three-minute walk test and timed function tests in healthy Caucasian boys from 2.5 up to 6 years old

Hoskens, Jasmine, Goemans, Nathalie, Feys, Hilde, De Waele, Liesbeth, Van den Hauwe, Marleen, Klingels, Katrijn

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 2.25 MB

2019

8

243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019

Poulton, Joanna, Steffann, Julie, Burgstaller, Joerg, McFarland, Robert

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 405 KB

2019

9

2nd Workshop on upper-extremity assistive technology for people with Duchenne: Effectiveness and usability of arm supports Irvine, USA, 22nd–23rd January 2018

Janssen, Mariska M.H.P., Lobo-Prat, Joan, Bergsma, Arjen, Vroom, Elizabeth, Bergsma, Arjen, Reinkensmeyer, David, Vroom, Elizabeth, Han, Jay, Prat, Joan Lobo, Corrigan, Madeline, Janssen, Mariska, Paa

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 301 KB

english, 2019

10

P.276Childhood-onset spinal muscular atrophy or juvenile amyotrophic lateral sclerosis without pontocerebellar hypoplasia caused by a novel VRK1 splice variant

Sedghi, M., Moslemi, A., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H., Laing, N., Tajsharghi, H., Tajsharghi, H.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 59 KB

english, 2019

11

P.391The role of registry in care and treatment of rare disorders: Polish registry of SMA patients

Lusakowska, A., Kaminska, A., Dziala, P., Janiszewska, K., Grochowski, P., Kostera-Pruszczyk, A.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 97 KB

english, 2019

12

EP.111Identification of novel biallelic mutations in SPTBN4 in a child with NEDHND featuring a spinal muscular atrophy phenotype

Castiglioni, C., Kelly, R., Heather, M., Jofre, J., Suarez, B., Langley, W., Nagy, P., Fattori, F., Bertini, E.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 62 KB

english, 2019

13

O.8DUX4 mRNA silencing with CRISPR-Cas13 gene therapy as a prospective treatment for Facioscapulohumeral muscular dystrophy

Rashnonejad, A., Amini Chermahini, G., Wallace, L., Harper, S.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 63 KB

english, 2019

14

EP.112Congenital sensory neuropathy as a new associated finding in COG6 and PIGG neurological disorders

CostaComellas, L., Gómez Andrés, D., Alvarez-Molinero, M., Gratacós Viñola, M., Sanchez-Montáñez, A., Ferrer Aparicio, S., Romero Duque, P., Marcè-Grau, A., Macaya, A., Munell, F.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 62 KB

english, 2019

15

EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations

Brisset, M., Metay, C., Romero, N., Carlier, R., Badosa, C., Marques, C., Jimenez-Mallebrera, C., Laforet, P., Malfatti, E.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 57 KB

english, 2019

16

P.173Ketogenic diet ameliorates dysferlinopathy phenotype in Dysf-/-mice by promoting mitochondrial function

Astorga, C., Basualto-Alarcon, C., Caviedes, P., Bevilacqua, J., Cárdenas, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 61 KB

english, 2019

17

P.363JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen

Chiriboga, C., Mercuri, E., Fischer, D., Day, J., Kraus, D., Yeung, W., Kletzl, H., Gerber, M., Cleary, Y., Gorni, K.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 63 KB

english, 2019

18

LIPID MYOPATHIES

Natera-de Benito, D., Carrera, L., Ortez, C., Juliá, N., O´Callaghan, M., Delgadillo, V., Eiris, J., Garcia, A., Jou, C., Jiemenez-Mallebrera, C., Codina, A., Pijuan, J., Colomer, J., Martorell, L., E

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 98 KB

english, 2019

19

P.210Burden of illness of spinal muscular atrophy type 1 (SMA1)

Droege, M., Dabbous, O., Arjunji, R., Seda, J., Gauthier-Loiselle, M., Cloutier, M., Sproule, D.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 98 KB

english, 2019

20

P.267Modifiers of respiratory and cardiac function in the Italian Duchenne muscular dystrophy network and CINRG Duchenne natural history study

Bello, L., D'Angelo, G., Bruno, C., Berardinelli, A., Comi, G., D'Amico, A., Astrea, G., Politano, L., Baranello, G., Sansone, V., Previtali, S., Vita, G., Mongini, T., Pini, A., Mercuri, E., Calore,

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 67 KB

english, 2019

21

P.290Dystrophinopathic subjects with a specific mega-deletion of exons 45-55 in the DMD gene, as a template for CRISPR/Cas9 therapy in Duchenne muscular dystrophy

Poyatos-García, J., Soblechero-Martín, P., Albiasu-Arteta, E., Arechavala-Gomeza, V., Vázquez-Manrique, R., Muelas, N., Martí, P., Gomis, C., Vilchez, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 86 KB

english, 2019

22

P.168Clinical spectrum and histopathological characterization of alpha-dystroglycanopathies

Bobadilla, E., Codina, A., Jou, C., Natera, D., Carrera, L., Ortez, C., Yubero, D., Martorell, L., Gonzalez, L., Gallano, P., Exposito, J., Corbera, J., Itzep, D., Colomer, J., Jimenenez-Mallebrera, C

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 57 KB

english, 2019

23

P.248CRISPR-Cas9 tagging allows the detection of endogenous gne in mice

Harazi, A., Yakovlev, L., Mitrani-Rosenbaum, S.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 56 KB

english, 2019

24

P.42Discovery of novel small molecule treatment options for FSHD

Geese, M., Ermann, M., Schneider, M., Monecke, S., Kaever, A., Frankenreiter, S., Bayerlova, M., Schreiter, K., Dickie, A., Loke, P., James, T., Anighoro, A., Hirsch, R., Müller, S., De Maeyer, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 59 KB

english, 2019

25

P.147Muscle biopsies in clinical trials for Duchenne muscular dystrophy – patients' and caregivers' perspective

Verhaart, I., Johnson, A., Thakrar, S., Vroom, E., De Angelis, F., Muntoni, F., Aartsma-Rus, A., Niks, E.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 62 KB

english, 2019

26

P.234Disruptive recessive TTN missense mutations cause a wide range of clinico-pathological features

Rees, M., Fukuzawa, A., Nikoopour, R., Kho, A., Qi, J., Fernandez-Garcia, M., Wraige, E., Cirak, S., Pfuhl, M., Fluss, J., Muntoni, F., Sarkozy, A., Schröder, R., Voermans, N., Wilichowski, E., Matthe

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 67 KB

english, 2019

27

O.3MiR-379 link glucocorticoid treatment to mitochondrial dysfunction in Duchenne muscular dystrophy

Sanson, M., Massourides, E., Mournetas, V., Vu Hong, A., Bénit, P., Barthélémy, I., Blot, S., Mouly, V., Pinset, C., Rustin, P., Richard, I., Israeli, D.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 98 KB

english, 2019

28

P.11Clinicopathological difference between anti-SRP and anti-HMGCR myopathy

Eura, N., Shiota, T., Ozaki, M., Iguchi, N., Uchihara, Y., Nanaura, H., Fukushima, K., Kiriyama, T., Izumi, T., Kataoka, H., Sugie, K.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 56 KB

english, 2019

29

P.243Dusty core disease (DuCD): a novel morphological hallmark for RYR1 recessive myopathies

Garibaldi, M., Rendu, J., Brocard, J., Lacene, E., Faurè, J., Brochier, G., Beuvin, M., Labasse, C., Madelaine, A., Malfatti, E., Bevilacqua, J., Lubieniecki, F., Monges, S., Taratuto, A., Laporte, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 102 KB

english, 2019

30

EP.132Central core myopathy in Chinese patients with Nav1.4 p.R675Q mutation

Sun, J., Luo, S., Gao, M., Qiao, K., Lv, H., Zhao, C.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 57 KB

english, 2019

31

P.149The MYODA operational seamless clinical trial design phase I to III: a new approach for rare diseases to evaluate the safety, efficacy, pharmacokinetics, and pharmacodynamics of BIO101 (MAS activator) in paediatric patients with a genetically confirmed diagnosis of Duchenne muscular dystrophy

Chabane, M., Dioh, W., Dilda, P., Lafont, R., Veillet, S., Voit, T., Agus, S.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 68 KB

english, 2019

32

EP.69Disorders of coagulation in Duchenne muscular dystrophy? Results of a registry-based online survey

Schorling, D., Müller, C., Pechmann, A., Borell, S., Langer, T., Thiele, S., Walter, M., Zieger, B., Kirschner, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 56 KB

english, 2019

33

P.355Investigating an in-home body-weight support harness system to maximize treatment benefit in spinal muscular atrophy

Iammarino, M., Alfano, L., Miller, N., Lowes, L.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 66 KB

english, 2019

34

2nd Workshop on upper-extremity assistive technology for people with Duchenne: Effectiveness and usability of arm supports Irvine, USA, 22nd–23rd January 2018

Janssen, Mariska M.H.P., Lobo-Prat, Joan, Bergsma, Arjen, Vroom, Elizabeth, Bergsma, Arjen, Reinkensmeyer, David, Vroom, Elizabeth, Han, Jay, Prat, Joan Lobo, Corrigan, Madeline, Janssen, Mariska, Paa

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 301 KB

2019

35

MOLECULAR THERAPEUTIC APPROACHES

Best, H., Woodman, K., Lek, A., Koczwara, K., Xu, E., Aykanat, A., Jiang, Y., Saltzman, M., Beggs, A., Lek, M.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 100 KB

english, 2019

36

P.34Nuclear envelope abnormalities in myotonic dystrophy primary myoblasts

Meinke, P., Limmer, S., Hintze, S., Schoser, B.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 59 KB

english, 2019

37

FSHD

Cup, E., Sezer, S., Lanser, A., Mul, K., Groothuis, J., Engelen, B., Satink, T., Voermans, N.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 56 KB

english, 2019

38

MITOCHONDRIAL DISEASES

Wegberg van, A., Zweers-van Essen, H., Smeitink, J., Saris, C., Janssen, M.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 59 KB

english, 2019

39

POMPE DISEASE AND METABOLIC DISORDERS

Malfatti, E., Marrosu, G., Stojkovic, T., DiMauro, S., Dominguez-Gonzalez, C., Hernandez-Lain, A., Van den Bergh, P., Petit, F., Oldfors, A., Vissing, J., Laforêt, P.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 63 KB

english, 2019

40

P.80Imbalances in protein homeostasis caused by mutant desmin

Clemen, C., Winter, L., Unger, A., Berwanger, C., Spörrer, M., Linke, W., Schröder, R.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 62 KB

english, 2019

41

P.101Defining the phenotype of Andersen-Tawil syndrome: the largest reported series

Vivekanandam, V., Germain, L., Skorupinska, I., Seutterlin, K., Fialho, D., Kozyra, D., Sud, R., Holmes, S., James, N., Hanna, M., Matthews, E.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 63 KB

english, 2019

42

EP.27Sporadic late-onset nemaline myopathy: an unusual case misdiagnosed as immune-mediated necrotizing myopathy

Pehl, D., Prudlo, J., Goebel, H., Stenzel, W.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 94 KB

english, 2019

43

McARDLE DISEASE

Quinlivan, R., Pietrusz, A., Pizzamiglio, C., Pattni, J., Mahroo, O., Khan, K., Elliott, P., Patasin, M., Chatfield, S., Lucia, A., Zugaza, J., Llavero, F., Godfrey, R.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 64 KB

english, 2019

44

P.126SRK-015, a fully human monoclonal antibody inhibiting myostatin activation, offers sustained target engagement across multiple species, including humans

Kalra, A., Cote, S., Barrett, D., Long, K., Kavosi, M., Wawersik, S., Faulds, H., Treece, E., Iarrobino, R., Chyung, Y.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 56 KB

english, 2019

45

P.132Dissection of UBA5 dysfunction in nervous system disorders

Serrano, R., Oorschot, V., Ramm, G., Bryson-Richardson, R.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 88 KB

english, 2019

46

P.143Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

Torelli, S., Scaglioni, D., Sardone, V., Domingos, J., Jones, A., Ellis, M., Eastwood, D., Feng, L., Leturcq, F., Ben Yaour, R., Ricci, E., Beuvin, M., Bonne, G., Sewry, C., Tasca, G., Phadke, R., Mor

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 62 KB

english, 2019

47

CONGENITAL MYOPATHIES: NEMALINE MYOPATHIES

Tinklenberg, J., Slick, R., Vanden Avond, M., Beatka, M., Prom, M., Siebers, E., Meng, H., Grzybowski, M., Heisner, J., Ross, J., Ochala, J., Nowak, K., Zhang, L., Geurts, A., Stowe, D., Montanaro, F.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 58 KB

english, 2019

48

P.176Limb-girdle muscular dystrophies (LGMD) C, D and E: long term clinical follow up, anatomopathological and molecular genetic study of in a cohort of 35 pediatric patients

Ortez, C., Martinez, A., Carrera, L., Natera, D., Exposito, J., Colomer, J., Jou, C., Codina, A., Jimenez-Mallebrera, C., Gallano, P., González, L., Yubero, D., Nascimento, A.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 65 KB

english, 2019

49

EP.42Health Utility index scores in patients with spinal muscular atrophy: findings from the 2019 cure SMA community update survey

Belter, L., Cruz, R., Jarecki, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 53 KB

english, 2019

50

NEW GENES AND DISEASES

Yoon, G., Estañ, M., Fernandez-Nuñez, E., Zak, M., Esteban, M., Donkervoort, S., Hawkins, C., Caparros-Martin, J., Saade, D., Hu, Y., Bolduc, V., Chao, K., Otaify, G., Temtamy, S., Aglan, M., Issa, M.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 103 KB

english, 2019

51

P.224Supportive thoraco-lumbar-sacral orthosis (TLSO) provision for spinal muscular atrophy (SMA) type 1 children treated with nusinersen

Abbott, L., Main, M., Manzur, A., Scoto, M., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 57 KB

english, 2019

52

P.277Muscle contractility in spinobulbar muscular atrophy

Dahlqvist, J., Oestergaard, S., Poulsen, N., Knak, K., Thomsen, C., Vissing, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 59 KB

english, 2019

53

P.301Myo-Guide: A new artificial intelligence MRI-based tool to aid diagnosis of patients with muscular dystrophies

Verdú-díaz, J., Alonso-Pérez, J., Nuñez-Peralta, C., Tasca, G., Vissing, J., Straub, V., Llauger, J., Diaz-Manera, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 60 KB

english, 2019

54

EP.86The effect of trunk training on trunk control, upper extremity, and pulmonary function in children with Duchenne muscular dystrophy

Güneş, Y., Yılmaz, Ö.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 87 KB

english, 2019

55

EP.100Impact of NGS on HyperCKemia diagnosis

Marti, P., Muelas, N., Azorin, I., Vilchez, R., Vilchez, J.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 93 KB

english, 2019

56

P.356Nusinersen in infants who initiate treatment in a presymptomatic stage of spinal muscular atrophy: interim results from the phase 2 NURTURE study

Ryan, M., De Vivo, D., Bertini, E., Hwu, W., Crawford, T., Swoboda, K., Finkel, R., Kirschner, J., Kuntz, N., Parsons, J., Butterfield, R., Topaloğlu, H., Ben Omran, T., Sansone, V., Jong, Y., Shu, F.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 66 KB

english, 2019

57

P.366Nusinersen improves motor function in ambulatory SMA III patients

Birsak, T., Ille, A., Weiss, S., Kellersmann, A., Gosk-Tomek, M., van Egmond-Froehlich, A., Lechner, Y., Maier, I., Schmidt, W., Bittner, R., Bernert, G.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 58 KB

english, 2019

58

P.383Antisense oligonucleotides therapy for COL6-related congenital muscular dystrophy

Aguti, S., Bolduc, V., Sarathy, A., Zou, Y., Bönnemann, C., Muntoni, F., Zhou, H.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 62 KB

english, 2019

59

P.394Coalition 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:

2019

Language:

english

File:

PDF, 95 KB

english, 2019

60

EP.107Transthyretin amyloidosis with variant Ile93Val mutation

Kim, W., La, Y., Choi, Y.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 57 KB

english, 2019

61

P.276Childhood-onset spinal muscular atrophy or juvenile amyotrophic lateral sclerosis without pontocerebellar hypoplasia caused by a novel VRK1 splice variant

Sedghi, M., Moslemi, A., Olive, M., Etemadifar, M., Ansari, B., Nasiri, J., Emrahi, L., Mianesaz, H., Laing, N., Tajsharghi, H., Tajsharghi, H.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 59 KB

2019

62

P.173Ketogenic diet ameliorates dysferlinopathy phenotype in Dysf-/-mice by promoting mitochondrial function

Astorga, C., Basualto-Alarcon, C., Caviedes, P., Bevilacqua, J., Cárdenas, J.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 61 KB

2019

63

P.363JEWELFISH: safety and pharmacodynamic data in patients with spinal muscular atrophy (SMA) receiving treatment with risdiplam (RG7916) that have previously been treated with nusinersen

Chiriboga, C., Mercuri, E., Fischer, D., Day, J., Kraus, D., Yeung, W., Kletzl, H., Gerber, M., Cleary, Y., Gorni, K.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 63 KB

2019

64

P.20Expanding the myasthenia-myositis association spectrum: clinical, morphological and immunological data form a large case series

Garibaldi, M., Fionda, L., Vanoli, F., Leonardi, L., Bucci, E., Morino, S., Merlonghi, G., Lucchini, M., Mirabella, M., Andreetta, F., Pennisi, E., Petrucci, A., Antonini, G.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 57 KB

2019

65

P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

Topf, A., Casasus, A., Barresi, R., Johnson, K., Mroczek, M., Duff, J., Phillips, L., England, E., Xu, L., Valkanas, E., MacArthur, D., Straub, V., MYO-SEQ consortium,

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 98 KB

2019

66

O.25Phase 1 clinical trial of losmapimod in FSHD: safety, tolerability and target engagement

Mellion, M., Ronco, L., Thompson, D., Hage, M., Brooks, S., van Brummelen, E., Pagan, L., Badrising, U., Van Engelen, B., Groeneveld, G., Cadavid, D.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 61 KB

2019

67

P.372CSF miRNAs as biomarkers to indicate the clinical response to Spinraza treatment for patients with spinal muscular atrophy

Doreste, B., Sanson, M., Zaharieva, I., Scoto, M., Muntoni, F., Zhou, H.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 54 KB

2019

68

24th WMS Congress – 2019 - Programme

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 626 KB

2019

69

P.82First clinical and neuropathological description of a myofibrillar myopathy with congenital onset based on a homozygous recessive FLNC mutation

Kölbel, H., Roos, A., Nolte, K., Johnson, K., Töpf, A., Kollipara, L., Kress, W., van der Ven, P., Straub, V., Weis, J., Fürst, D., Schara, U.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 98 KB

2019

70

P.119Analysis of the structural and metabolic consequences of McArdle disease using the murine model

Real-Martínez, A., Brull, A., Huerta, J., Villarreal-Salazar, M., Tarrasó, G., Lucia, A., Martin, M., Arenas, J., Andreu, A., Nogales-Gadea, G., Vissing, J., Krag, T., de Luna, N., Pinós, T.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 65 KB

2019

71

P.182Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients

ten Dam, L., Frankhuizen, W., Linssen, W., Straathof, C., Niks, E., Faber, C., Fock, J., Kuks, J., Brusse, E., de Coo, I., Voermans, N., Verrips, A., Hoogendijk, J., van der Pol, W., Westra, D., de Vi

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 70 KB

2019

72

P.211Pilot study of genetic newborn screening for spinal muscular atrophy in Germany: clinical results after more than a year

Mueller-Felber, W., Kölbel, H., Schwartz, O., Blaschek, A., Olgemüller, B., Harms, E., Röschinger, W., Durner, J., Gläser, D., Burggraf, S., Nennstiel, U., Wirth, B., Schara, U., Becker, M., Vill, K.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 68 KB

2019

73

FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY

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

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 94 KB

2019

74

E-POSTERS – NEUROPATHIES / ALS – CASE REPORTS

Fraczek, A., Potulska-Chromik, A., Bednarska-Makaruk, M., Sulek, A., Obersztyn, E., Braun-Walicka, N., Ryniewicz, B., Kostera-Pruszczyk, A.

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 64 KB

2019

75

Development of an academic disease registry for spinal muscular atrophy

Mercuri, Eugenio, Finkel, Richard, Scoto, MariaCristina, Hall, Susan, Eaton, Susan, Rashid, Aisha, Balashkina, Julia, Coratti, Giorgia, Pera, Maria Carmela, Samsuddin, Salma, Civitello, Matthew, Munto

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 347 KB

english, 2019

76

26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19–20 June 2019

Kinoshita, June, Magdinier, Frédérique, Padberg, George W.

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 311 KB

english, 2019

77

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 25 KB

2019

78

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 31 KB

2019

79

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 30 KB

2019

80

Meeting on data sharing for Duchenne 21–22 March 2019 Amsterdam, the Netherlands

Verhaart, Ingrid E.C., ‘t Hoen, Peter A.C., Roos, Marco, Vroom, Elizabeth

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.08 MB

english, 2019

81

Assessment of muscle involvement in patients with Duchenne muscular dystrophy via segmental multifrequency bioelectrical analysis

Kuru, Satoshi, Uchiyama, Tomoka, Hattori, Ayako, Sato, Takatoshi, Murakami, Terumi, Ishigaki, Keiko, Nakayama, Takahiro

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 1.04 MB

english, 2019

82

Book review

Krishnakumar, Dr. Deepa

Journal:

Neuromuscular Disorders

Year:

2019

Language:

english

File:

PDF, 161 KB

english, 2019

83

Book review

Krishnakumar, Dr. Deepa

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 161 KB

2019

84

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 37 KB

2019

85

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 37 KB

2019

86

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 37 KB

2019

87

Book review

Journal:

Neuromuscular Disorders

Year:

2019

File:

PDF, 161 KB

2019