nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Aerobic training in persons who have recovered from juvenile dermatomyositis
|
Riisager, M. |
|
2013 |
23 |
12 |
p. 962-968 7 p. |
artikel |
2 |
Announcement
|
|
|
2013 |
23 |
12 |
p. IV- 1 p. |
artikel |
3 |
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene
|
Malfatti, Edoardo |
|
2013 |
23 |
12 |
p. 992-997 6 p. |
artikel |
4 |
‘Double trouble’: Diagnostic challenges in Duchenne muscular dystrophy in patients with an additional hereditary skeletal dysplasia
|
Donkervoort, Sandra |
|
2013 |
23 |
12 |
p. 955-961 7 p. |
artikel |
5 |
Editorial Board
|
|
|
2013 |
23 |
12 |
p. IFC- 1 p. |
artikel |
6 |
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
|
Mitsuhashi, Satomi |
|
2013 |
23 |
12 |
p. 975-980 6 p. |
artikel |
7 |
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1
|
Decostre, Valérie |
|
2013 |
23 |
12 |
p. 1016-1025 10 p. |
artikel |
8 |
MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011
|
Turner, C. |
|
2013 |
23 |
12 |
p. 1069-1080 12 p. |
artikel |
9 |
Muscle biopsies off-set normal cellular signaling in surrounding musculature
|
Krag, Thomas O. |
|
2013 |
23 |
12 |
p. 981-985 5 p. |
artikel |
10 |
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia
|
Fiorillo, Chiara |
|
2013 |
23 |
12 |
p. 1010-1015 6 p. |
artikel |
11 |
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome
|
Bauché, Stéphanie |
|
2013 |
23 |
12 |
p. 998-1009 12 p. |
artikel |
12 |
PNPLA2 mutation: A paediatric case with early onset but indolent course
|
Perrin, Laurine |
|
2013 |
23 |
12 |
p. 986-991 6 p. |
artikel |
13 |
Polymorphism in the TOMM40 gene modifies the risk of developing sporadic inclusion body myositis and the age of onset of symptoms
|
Mastaglia, F.L. |
|
2013 |
23 |
12 |
p. 969-974 6 p. |
artikel |
14 |
Progressive dysarthria and dysphagia in an otherwise healthy girl
|
Koytak, Pinar Kahraman |
|
2013 |
23 |
12 |
p. 1026-1027 2 p. |
artikel |
15 |
Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop
|
Gagnon, Cynthia |
|
2013 |
23 |
12 |
p. 1056-1068 13 p. |
artikel |
16 |
188th ENMC International Workshop: Inclusion Body Myositis, 2–4 December 2011, Naarden, The Netherlands
|
Rose, M.R. |
|
2013 |
23 |
12 |
p. 1044-1055 12 p. |
artikel |
17 |
184th ENMC international workshop: Pain and fatigue in neuromuscular disorders
|
de Groot, Imelda J.M. |
|
2013 |
23 |
12 |
p. 1028-1032 5 p. |
artikel |
18 |
198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands
|
Jungbluth, Heinz |
|
2013 |
23 |
12 |
p. 1033-1043 11 p. |
artikel |
19 |
The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome)
|
Kaplan, Jean-Claude |
|
2013 |
23 |
12 |
p. 1081-1111 31 p. |
artikel |