Volume 23; Issue 11

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Neuromuscular Disorders
Volume 23; Issue 11

Neuromuscular Disorders

Volume 23; Issue 11

1

Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy

Kurashige, Takashi, Takahashi, Tetsuya, Yamazaki, Yu, Nagano, Yoshito, Kondo, Keita, Nakamura, Takeshi, Yamawaki, Takemori, Tsuburaya, Rie, Hayashi, Yukiko K., Nonaka, Ikuya, Nishino, Ichizo, Matsumot

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.47 MB

english, 2013

2

An “inflammatory” mitochondrial myopathy. A case report

Mancuso, Michelangelo, Orsucci, Daniele, Ienco, Elena Caldarazzo, Ricci, Giulia, Ali, Greta, Servadio, Adele, Fontanini, Gabriella, Filosto, Massimiliano, Vielmi, Valentina, Rocchi, Anna, Petrozzi, Lu

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

3

Steroids in Duchenne dystrophy

Zatz, Mayana, Pavanello, Rita C.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 133 KB

english, 2013

4

Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report

Motoki, T., Fukuda, M., Nakano, T., Matsukage, S., Fukui, A., Akiyoshi, S., Hayashi, Y.K., Ishii, E., Nishino, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.16 MB

english, 2013

5

194th ENMC international workshop. 3rd ENMC workshop on exon skipping: Towards clinical application of antisense-mediated exon skipping for Duchenne muscular dystrophy 8–10 December 2012, Naarden, The Netherlands

Aartsma-Rus, Annemieke, Muntoni, Francesco

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 381 KB

english, 2013

6

196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8–10 February 2013, Naarden, The Netherlands

Vanhoutte, Els K., Faber, Catharina G., Merkies, Ingemar S.J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 782 KB

english, 2013

7

Cochrane 20years on: The Cochrane Neuromuscular Disease Group

Lunn, M.P., Quinlivan, R.M.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 152 KB

english, 2013

8

Influence of comorbidities on the phenotype of patients affected by Charcot–Marie–Tooth neuropathy type 1A

Ursino, Giulia, Alberti, M. Antonia, Grandis, Marina, Reni, Lizia, Pareyson, Davide, Bellone, Emilia, Gemelli, Chiara, Sabatelli, Mario, Pisciotta, Chiara, Luigetti, Marco, Santoro, Lucio, Massollo, L

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 418 KB

english, 2013

9

193rd ENMC International workshop Pathology diagnosis of idiopathic inflammatory myopathies 30 November – 2 December 2012, Naarden, The Netherlands

De Bleecker, Jan L., Lundberg, Ingrid E., de Visser, Marianne

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 266 KB

english, 2013

10

Muscle specific kinase autoimmune myasthenia gravis in children: A case series

Skjei, Karen L., Lennon, Vanda A., Kuntz, Nancy L.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 486 KB

english, 2013

11

Novel GJB1 mutation causing adult-onset Charcot–Marie–Tooth disease in a female patient

Martikainen, Mika H., Majamaa, Kari

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 216 KB

english, 2013

12

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

13

Increased levels of expression of dystroglycan may protect the heart

Brancaccio, Andrea

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 339 KB

english, 2013

14

An unusual phenotype of late-onset desminopathy

Palmio, Johanna, Penttilä, Sini, Huovinen, Sanna, Haapasalo, Hannu, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 496 KB

english, 2013

15

Fatigue resistance of the knee extensor muscles is not reduced in post-polio syndrome

Voorn, Eric L., Beelen, Anita, Gerrits, Karin H.L., Nollet, Frans, de Haan, Arnold

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 325 KB

english, 2013

16

DOK7 congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children

Klein, Andrea, Pitt, Matthew C., McHugh, John C., Niks, Erik H., Sewry, Caroline A., Phadke, Rahul, Feng, Lucy, Manzur, Adnan Y., Tirupathi, Sandya, DeVile, Catherine, Jayawant, Sandeep, Finlayson, Sa

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 645 KB

english, 2013