| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
|
Wallace, Stephanie E.
|
|
2014
|
24 |
4 |
p. 312-320
9 p.
|
article
|
| 2 |
Asymptomatic myotonia congenita unmasked by severe hypothyroidism
|
Passeri, Elena
|
|
2014
|
24 |
4 |
p. 365-367
3 p.
|
article
|
| 3 |
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome
|
Monies, Dorota M.
|
|
2014
|
24 |
4 |
p. 353-359
7 p.
|
article
|
| 4 |
Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]
|
Bauché, Stéphanie
|
|
2014
|
24 |
4 |
p. 371-
1 p.
|
article
|
| 5 |
Diagnostic approach to the congenital muscular dystrophies
|
Bönnemann, Carsten G.
|
|
2014
|
24 |
4 |
p. 289-311
23 p.
|
article
|
| 6 |
Editorial Board
|
|
|
2014
|
24 |
4 |
p. IFC-
1 p.
|
article
|
| 7 |
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy
|
Citirak, Gülsenay
|
|
2014
|
24 |
4 |
p. 325-330
6 p.
|
article
|
| 8 |
Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients
|
Mazzone, E.
|
|
2014
|
24 |
4 |
p. 347-352
6 p.
|
article
|
| 9 |
Influenzavirus B-associated acute benign myalgia cruris: An outbreak report and review of the literature
|
Ferrarini, Alessandra
|
|
2014
|
24 |
4 |
p. 342-346
5 p.
|
article
|
| 10 |
Myopathy with anti-signal recognition particle antibodies: Clinical and histopathological features in Chinese patients
|
Wang, Lu
|
|
2014
|
24 |
4 |
p. 335-341
7 p.
|
article
|
| 11 |
[No title]
|
Jungbluth, Heinz
|
|
2014
|
24 |
4 |
p. 370-
1 p.
|
article
|
| 12 |
[No title]
|
Damian, Linda
|
|
2014
|
24 |
4 |
p. 368-
1 p.
|
article
|
| 13 |
[No title]
|
Spinty, Stefan
|
|
2014
|
24 |
4 |
p. 369-
1 p.
|
article
|
| 14 |
Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathy
|
Friedman, Bethany
|
|
2014
|
24 |
4 |
p. 331-334
4 p.
|
article
|
| 15 |
Novel mitofusin 2 splice-site mutation causes Charcot–Marie–Tooth disease type 2 with prominent sensory dysfunction
|
Martikainen, Mika H.
|
|
2014
|
24 |
4 |
p. 360-364
5 p.
|
article
|
| 16 |
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations
|
Hafner, Patricia
|
|
2014
|
24 |
4 |
p. 321-324
4 p.
|
article
|
Journal description