Volume 25; Issue 6

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Neuromuscular Disorders
Volume 25; Issue 6

Neuromuscular Disorders

Volume 25; Issue 6

1

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

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 707 KB

english, 2015

2

Phenotypic variability of TRPV4 related neuropathies

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.56 MB

english, 2015

3

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

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.33 MB

english, 2015

4

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

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

5

Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 904 KB

english, 2015

6

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

van den Bergen, Janneke, Aartsma-Rus, Annemieke

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

7

Severe congenital actin related myopathy with myofibrillar myopathy features

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 2.67 MB

english, 2015

8

Early onset cardiomyopathy in females with Danon disease

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 6.19 MB

english, 2015

9

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 333 KB

english, 2015

10

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

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

11

Editorial Board

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 69 KB

english, 2015

12

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

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 3.87 MB

english, 2015

13

No cardiomyopathy in X-linked myopathy with excessive autophagy

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

14

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

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

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.03 MB

english, 2015

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