nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Acute colonic distension in a patient with severe muscular dystrophy receiving non-invasive positive pressure ventilation
|
Vianello, Andrea |
|
2018 |
28 |
1 |
p. 60-61 |
artikel |
2 |
A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot–Marie–Tooth disease
|
Fu, Jun |
|
2018 |
28 |
1 |
p. 44-47 |
artikel |
3 |
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy
|
Goemans, Nathalie |
|
2018 |
28 |
1 |
p. 4-15 |
artikel |
4 |
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
|
De Sanctis, Roberto |
|
2018 |
28 |
1 |
p. 24-28 |
artikel |
5 |
Commentary from the Editor
|
Dubowitz, Victor |
|
2018 |
28 |
1 |
p. 1-3 |
artikel |
6 |
Compliance to care guidelines for Duchenne muscular dystrophy in Italy
|
Landfeldt, Erik |
|
2018 |
28 |
1 |
p. 100 |
artikel |
7 |
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding
|
Brackmann, Florian |
|
2018 |
28 |
1 |
p. 54-58 |
artikel |
8 |
Corrigendum to “A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy” [Neuromuscular disorders 27/11 (2017) 1043–1046]
|
Van den Bergh, P.Y.K. |
|
2018 |
28 |
1 |
p. 101 |
artikel |
9 |
Early involvement of the supinator muscle in Duchenne muscular dystrophy
|
Tartaglione, Tommaso |
|
2018 |
28 |
1 |
p. 62-63 |
artikel |
10 |
Editorial Board
|
|
|
2018 |
28 |
1 |
p. CO2 |
artikel |
11 |
Exertional myalgia, contractures and annular erythema in a patient with muscle lactate dehydrogenase (LDH) deficiency
|
Yue, Dongyue |
|
2018 |
28 |
1 |
p. 59 |
artikel |
12 |
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients
|
Milley, György Máté |
|
2018 |
28 |
1 |
p. 38-43 |
artikel |
13 |
Lower limb muscle magnetic resonance imaging in myotonic dystrophy type 1 correlates with the six-minute walk test and CTG repeats
|
Park, Donghwi |
|
2018 |
28 |
1 |
p. 29-37 |
artikel |
14 |
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes
|
Harris, Elizabeth |
|
2018 |
28 |
1 |
p. 48-53 |
artikel |
15 |
Proceedings of a Parent Project Muscular Dystrophy Bone Health Workshop
|
Ward, Leanne M. |
|
2018 |
28 |
1 |
p. 64-76 |
artikel |
16 |
226th ENMC International Workshop:
|
Aartsma-Rus, Annemieke |
|
2018 |
28 |
1 |
p. 77-86 |
artikel |
17 |
224th ENMC International Workshop:
|
Allenbach, Yves |
|
2018 |
28 |
1 |
p. 87-99 |
artikel |
18 |
Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: A cross-sectional analysis
|
Schmidt, Simone |
|
2018 |
28 |
1 |
p. 16-23 |
artikel |