| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission
|
Nicolau, Stefan
|
|
|
29 |
8 |
p. 614-617
|
artikel
|
| 2 |
Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy
|
Cai, Shuang
|
|
|
29 |
8 |
p. 628-633
|
artikel
|
| 3 |
Editorial Board
|
|
|
|
29 |
8 |
p. IFC
|
artikel
|
| 4 |
Muscle biopsies in clinical trials for Duchenne muscular dystrophy – Patients’ and caregivers’ perspective
|
Verhaart, Ingrid E.C.
|
|
|
29 |
8 |
p. 576-584
|
artikel
|
| 5 |
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling
|
Toksoy, G
|
|
|
29 |
8 |
p. 601-613
|
artikel
|
| 6 |
2nd Workshop on upper-extremity assistive technology for people with Duchenne: Effectiveness and usability of arm supports Irvine, USA, 22nd–23rd January 2018
|
Janssen, Mariska M.H.P.
|
|
|
29 |
8 |
p. 651-656
|
artikel
|
| 7 |
Normative data and percentile curves for the three-minute walk test and timed function tests in healthy Caucasian boys from 2.5 up to 6 years old
|
Hoskens, Jasmine
|
|
|
29 |
8 |
p. 585-600
|
artikel
|
| 8 |
Quality of life in long term ventilated adult patients with Duchenne muscular dystrophy
|
Crescimanno, Grazia
|
|
|
29 |
8 |
p. 569-575
|
artikel
|
| 9 |
The nature of respiratory muscle weakness in patients with late-onset Pompe disease
|
Spiesshoefer, Jens
|
|
|
29 |
8 |
p. 618-627
|
artikel
|
| 10 |
214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015
|
Donkervoort, Sandra
|
|
|
29 |
8 |
p. 644-650
|
artikel
|
| 11 |
238th ENMC International Workshop: Updating management recommendations of cardiac dystrophinopathyHoofddorp, The Netherlands, 30 November - 2 December 2018
|
Bourke, John P.
|
|
|
29 |
8 |
p. 634-643
|
artikel
|
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