nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance
|
Ravenscroft, Gianina |
|
2011 |
21 |
1 |
p. 31-36 6 p. |
artikel |
2 |
Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals
|
Menotti, Federica |
|
2011 |
21 |
1 |
p. 52-57 6 p. |
artikel |
3 |
Choosing the right clinical outcome measure: From the patient to the statistician and back
|
Mercuri, Eugenio |
|
2011 |
21 |
1 |
p. 16-19 4 p. |
artikel |
4 |
Commentary from the Editor
|
Dubowitz, Victor |
|
2011 |
21 |
1 |
p. 1-2 2 p. |
artikel |
5 |
Current concerns in the therapy of neuromuscular disorders
|
Dubowitz, Victor |
|
2011 |
21 |
1 |
p. 3- 1 p. |
artikel |
6 |
Developing standard procedures for pre-clinical efficacy studies in mouse models of spinal muscular atrophy
|
Willmann, Raffaella |
|
2011 |
21 |
1 |
p. 74-77 4 p. |
artikel |
7 |
Developmental defects and neuromuscular alterations due to mitofusin 2 gene (MFN2) silencing in zebrafish: a new model for Charcot-Marie-Tooth type 2A neuropathy
|
Vettori, Andrea |
|
2011 |
21 |
1 |
p. 58-67 10 p. |
artikel |
8 |
Duchenne muscular dystrophy: Survival by cardio-respiratory interventions
|
Ishikawa, Yuka |
|
2011 |
21 |
1 |
p. 47-51 5 p. |
artikel |
9 |
Editorial Board
|
|
|
2011 |
21 |
1 |
p. IFC- 1 p. |
artikel |
10 |
EMNC
|
|
|
2011 |
21 |
1 |
p. I- 1 p. |
artikel |
11 |
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: Less severe mutations predominate in patients with a non-Walker-Warburg phenotype
|
Yis, Uluc |
|
2011 |
21 |
1 |
p. 20-30 11 p. |
artikel |
12 |
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
|
Forrest, Katharine M.L. |
|
2011 |
21 |
1 |
p. 37-40 4 p. |
artikel |
13 |
Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice
|
Wansapura, Janaka P. |
|
2011 |
21 |
1 |
p. 68-73 6 p. |
artikel |
14 |
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
|
Stensland, Eva |
|
2011 |
21 |
1 |
p. 41-46 6 p. |
artikel |
15 |
Referees consulted 2010
|
|
|
2011 |
21 |
1 |
p. 79-80 2 p. |
artikel |
16 |
Stem cells to treat muscular dystrophies – Where are we?
|
Meng, Jinhong |
|
2011 |
21 |
1 |
p. 4-12 9 p. |
artikel |
17 |
Sunnier days
|
Sibley, Martyn |
|
2011 |
21 |
1 |
p. 78- 1 p. |
artikel |
18 |
The risks of therapeutic misconception and individual patient (n =1) “trials” in rare diseases such as Duchenne dystrophy
|
Aartsma-Rus, Annemieke |
|
2011 |
21 |
1 |
p. 13-15 3 p. |
artikel |
19 |
WMS 2011
|
|
|
2011 |
21 |
1 |
p. II- 1 p. |
artikel |
20 |
WMS News
|
|
|
2011 |
21 |
1 |
p. IV-V nvt p. |
artikel |
21 |
WMS online application form
|
|
|
2011 |
21 |
1 |
p. III- 1 p. |
artikel |