| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Brain involvement in Charcot–Marie–Tooth disease due to ganglioside-induced differentiation associated-protein 1 mutation
|
Al-Ghamdi, Fouad
|
|
2017
|
27 |
9 |
p. 848-851
4 p.
|
article
|
| 2 |
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains
|
Harris, Elizabeth
|
|
2017
|
27 |
9 |
p. 861-872
12 p.
|
article
|
| 3 |
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
|
Sframeli, Maria
|
|
2017
|
27 |
9 |
p. 793-803
11 p.
|
article
|
| 4 |
Cystinosis distal myopathy, novel clinical, pathological and genetic features
|
Cabrera-Serrano, Macarena
|
|
2017
|
27 |
9 |
p. 873-878
6 p.
|
article
|
| 5 |
Editorial Board
|
|
|
2017
|
27 |
9 |
p. CO2-
1 p.
|
article
|
| 6 |
Evaluation of coexisting polymyositis in feline myasthenia gravis: A case series
|
Mayousse, Vincent
|
|
2017
|
27 |
9 |
p. 804-815
12 p.
|
article
|
| 7 |
Exome sequencing identifies targets in the treatment-resistant ophthalmoplegic subphenotype of myasthenia gravis
|
Nel, Melissa
|
|
2017
|
27 |
9 |
p. 816-825
10 p.
|
article
|
| 8 |
Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male
|
Hedberg-Oldfors, Carola
|
|
2017
|
27 |
9 |
p. 843-847
5 p.
|
article
|
| 9 |
Insights from genotype–phenotype correlations by novel SPEG mutations causing centronuclear myopathy
|
Wang, Haicui
|
|
2017
|
27 |
9 |
p. 836-842
7 p.
|
article
|
| 10 |
Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1
|
Kroksmark, Anna-Karin
|
|
2017
|
27 |
9 |
p. 826-835
10 p.
|
article
|
| 11 |
Misdiagnosis is an important factor for diagnostic delay in McArdle disease
|
Scalco, Renata Siciliani
|
|
2017
|
27 |
9 |
p. 852-855
4 p.
|
article
|
| 12 |
Rare diagnosis of telethoninopathy (LGMD2G) in a Turkish patient
|
Ikenberg, Elena
|
|
2017
|
27 |
9 |
p. 856-860
5 p.
|
article
|
Journal description