nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping
|
Joshi, Pushpa Raj |
|
2014 |
24 |
1 |
p. 43-47 5 p. |
artikel |
2 |
Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation
|
Yurrebaso, Izaskun |
|
2014 |
24 |
1 |
p. 56-62 7 p. |
artikel |
3 |
Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access
|
Tawil, R. |
|
2014 |
24 |
1 |
p. 79-85 7 p. |
artikel |
4 |
Commentary from the Editor
|
Dubowitz, Victor |
|
2014 |
24 |
1 |
p. 1-3 3 p. |
artikel |
5 |
Compound heterozygous mutations of the TNXB gene cause primary myopathy
|
Allamand, Valérie |
|
2014 |
24 |
1 |
p. 89- 1 p. |
artikel |
6 |
Compound heterozygous mutations of the TNXB gene cause primary myopathy
|
Voermans, Nicol C. |
|
2014 |
24 |
1 |
p. 88-89 2 p. |
artikel |
7 |
Editorial Board
|
|
|
2014 |
24 |
1 |
p. IFC- 1 p. |
artikel |
8 |
Histological abnormalities induced by the electromyography needle
|
Voermans, N.C. |
|
2014 |
24 |
1 |
p. 77-78 2 p. |
artikel |
9 |
Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1
|
Ekmekci, Ozgul |
|
2014 |
24 |
1 |
p. 40-42 3 p. |
artikel |
10 |
[No title]
|
Hussain, Nahin |
|
2014 |
24 |
1 |
p. 86-87 2 p. |
artikel |
11 |
[No title]
|
Wills, Adrian |
|
2014 |
24 |
1 |
p. 86- 1 p. |
artikel |
12 |
Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomy
|
Heng, H.S. |
|
2014 |
24 |
1 |
p. 25-30 6 p. |
artikel |
13 |
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial
|
Flanigan, Kevin M. |
|
2014 |
24 |
1 |
p. 16-24 9 p. |
artikel |
14 |
Prepubertal anti-Musk positive myasthenia gravis with long remission
|
Gungor-Tuncer, Ozlem |
|
2014 |
24 |
1 |
p. 36-39 4 p. |
artikel |
15 |
Respiratory dysfunction in unsedated dogs with golden retriever muscular dystrophy
|
DeVanna, Justin C. |
|
2014 |
24 |
1 |
p. 63-73 11 p. |
artikel |
16 |
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
|
Gallenmüller, Constanze |
|
2014 |
24 |
1 |
p. 31-35 5 p. |
artikel |
17 |
Statin myotoxicity: A review of genetic susceptibility factors
|
Needham, M. |
|
2014 |
24 |
1 |
p. 4-15 12 p. |
artikel |
18 |
The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy
|
Roth, Lisa A. |
|
2014 |
24 |
1 |
p. 48-55 8 p. |
artikel |
19 |
The Meryon Society Lecture at the 38th Oxford Muscle Symposium, June 28th 2013: The story of the distal myopathies
|
Udd, Bjarne |
|
2014 |
24 |
1 |
p. 74-76 3 p. |
artikel |
20 |
WMS 18 Asilomar, California Pacific Paradise for Education, Enjoyment and Excitement
|
Miller, Jane |
|
2014 |
24 |
1 |
p. 90-95 6 p. |
artikel |