nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Cognitive decline over time in adults with myotonic dystrophy type 1: A 9-year longitudinal study
|
Gallais, Benjamin |
|
2017 |
27 |
1 |
p. 61-72 12 p. |
artikel |
2 |
Coming of age of the World Muscle Society Granada 2016
|
Miller, Jane |
|
2017 |
27 |
1 |
p. 98-105 8 p. |
artikel |
3 |
Commentary from the Editor
|
Dubowitz, Victor |
|
2017 |
27 |
1 |
p. 1-3 3 p. |
artikel |
4 |
Confirmation of the GNB4 gene as causal for Charcot–Marie–Tooth disease by a novel de novo mutation in a Czech patient
|
Laššuthová, Petra |
|
2017 |
27 |
1 |
p. 57-60 4 p. |
artikel |
5 |
Decreased cerebral perfusion in Duchenne muscular dystrophy patients
|
Doorenweerd, Nathalie |
|
2017 |
27 |
1 |
p. 29-37 9 p. |
artikel |
6 |
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy
|
Llano-Diez, Monica |
|
2017 |
27 |
1 |
p. 15-23 9 p. |
artikel |
7 |
Editorial Board
|
|
|
2017 |
27 |
1 |
p. CO2- 1 p. |
artikel |
8 |
ENMC Announcement
|
|
|
2017 |
27 |
1 |
p. IV- 1 p. |
artikel |
9 |
Men with Duchenne muscular dystrophy and end of life planning
|
Abbott, David |
|
2017 |
27 |
1 |
p. 38-44 7 p. |
artikel |
10 |
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy
|
Joureau, Barbara |
|
2017 |
27 |
1 |
p. 83-89 7 p. |
artikel |
11 |
Pharmacological therapy for the prevention and management of cardiomyopathy in Duchenne muscular dystrophy: A systematic review
|
El-Aloul, Basmah |
|
2017 |
27 |
1 |
p. 4-14 11 p. |
artikel |
12 |
Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene
|
Rossor, Alexander M. |
|
2017 |
27 |
1 |
p. 50-56 7 p. |
artikel |
13 |
Pyruvate dehydrogenase-E1α deficiency presenting as recurrent acute proximal muscle weakness of upper and lower extremities in an 8-year-old boy
|
Kara, Bülent |
|
2017 |
27 |
1 |
p. 94-97 4 p. |
artikel |
14 |
Successful autologous haematopoietic stem cell transplantation for refractory myasthenia gravis – a case report
|
Håkansson, Irene |
|
2017 |
27 |
1 |
p. 90-93 4 p. |
artikel |
15 |
The gross motor function measure is valid for Fukuyama congenital muscular dystrophy
|
Sato, Takatoshi |
|
2017 |
27 |
1 |
p. 45-49 5 p. |
artikel |
16 |
Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation
|
Noury, Jean-Baptiste |
|
2017 |
27 |
1 |
p. 78-82 5 p. |
artikel |
17 |
Update in NMD Announcement
|
|
|
2017 |
27 |
1 |
p. III- 1 p. |
artikel |
18 |
Utility of skinfold thickness measurement in non-ambulatory patients with Duchenne muscular dystrophy
|
Ishizaki, Masatoshi |
|
2017 |
27 |
1 |
p. 24-28 5 p. |
artikel |
19 |
Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC
|
van den Bogaart, Fleur J.A. |
|
2017 |
27 |
1 |
p. 73-77 5 p. |
artikel |