| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A homozygous nonsense mutation in δ-sarcoglycan exon 3 in a case of LGMD2F
|
Dinçer, P
|
|
2000
|
|
4-5 |
p. 247-250
4 p.
|
artikel
|
| 2 |
‘An artefact gone awry’: Identification of the first case of nemaline myopathy by Dr R.D.K. Reye
|
Schnell, Christina
|
|
2000
|
|
4-5 |
p. 307-312
6 p.
|
artikel
|
| 3 |
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
|
Driss, A.
|
|
2000
|
|
4-5 |
p. 240-246
7 p.
|
artikel
|
| 4 |
A randomized comparative study of two methods for controlling Tendo Achilles contracture in Duchenne muscular dystrophy
|
Hyde, Sylvia A.
|
|
2000
|
|
4-5 |
p. 257-263
7 p.
|
artikel
|
| 5 |
Book review
|
Emery, Alan
|
|
2000
|
|
4-5 |
p. 324-325
2 p.
|
artikel
|
| 6 |
Book review
|
Palace, Dr.Jackie
|
|
2000
|
|
4-5 |
p. 324-
1 p.
|
artikel
|
| 7 |
Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation
|
Renard, Dimitri
|
|
2016
|
|
4-5 |
p. 326-327
2 p.
|
artikel
|
| 8 |
Calpain3 expression during human cardiogenesis
|
Fougerousse, Françoise
|
|
2000
|
|
4-5 |
p. 251-256
6 p.
|
artikel
|
| 9 |
C5b-9 deposits on endomysial capillaries in non-dermatomyositis cases
|
Braczynski, Anne K.
|
|
2016
|
|
4-5 |
p. 283-291
9 p.
|
artikel
|
| 10 |
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations
|
Hamanaka, Kohei
|
|
2016
|
|
4-5 |
p. 300-308
9 p.
|
artikel
|
| 11 |
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion
|
Jouaud, Maxime
|
|
2016
|
|
4-5 |
p. 316-321
6 p.
|
artikel
|
| 12 |
Copies of the survival motor neuron gene in spinal muscular atrophy: the more, the better
|
Brahe, Christina
|
|
2000
|
|
4-5 |
p. 274-275
2 p.
|
artikel
|
| 13 |
Corrigendum to “Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)” [Neuromuscular Disorders 25 (2015) 937–944]
|
Landfeldt, Erik
|
|
2016
|
|
4-5 |
p. 329-
1 p.
|
artikel
|
| 14 |
Corrigendum to “The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)”
|
Kaplan, Jean-Claude
|
|
2016
|
|
4-5 |
p. 330-
1 p.
|
artikel
|
| 15 |
Editorial Board
|
|
|
2016
|
|
4-5 |
p. CO2-
1 p.
|
artikel
|
| 16 |
Emery–Dreifuss muscular dystrophy – a 40 year retrospective
|
Emery, Alan E.H
|
|
2000
|
|
4-5 |
p. 228-232
5 p.
|
artikel
|
| 17 |
High resolution magnetic resonance imaging of the brain in the dy/dy mouse with merosin-deficient congenital muscular dystrophy
|
Dubowitz, David J
|
|
2000
|
|
4-5 |
p. 292-298
7 p.
|
artikel
|
| 18 |
Human Molecular Genetics 2
|
Emery, Alan
|
|
2000
|
|
4-5 |
p. 326-
1 p.
|
artikel
|
| 19 |
Index
|
|
|
2000
|
|
4-5 |
p. 385-389
5 p.
|
artikel
|
| 20 |
Minicore myopathy in children: a clinical and histopathological study of 19 cases
|
Jungbluth, H
|
|
2000
|
|
4-5 |
p. 264-273
10 p.
|
artikel
|
| 21 |
“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
|
Mancuso, Michelangelo
|
|
2016
|
|
4-5 |
p. 272-276
5 p.
|
artikel
|
| 22 |
Modulation of disease severity in mice with targeted disruption of the acid α-glucosidase gene
|
Raben, Nina
|
|
2000
|
|
4-5 |
p. 283-291
9 p.
|
artikel
|
| 23 |
Neurologic Complications in Organ Transplant Recipients
|
Cartlidge, N.E.F
|
|
2000
|
|
4-5 |
p. 325-
1 p.
|
artikel
|
| 24 |
Noncompaction and the neuromuscular connection
|
Finsterer, Josef
|
|
2016
|
|
4-5 |
p. 328-
1 p.
|
artikel
|
| 25 |
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
|
Savarese, Marco
|
|
2016
|
|
4-5 |
p. 292-299
8 p.
|
artikel
|
| 26 |
Nuclear proteins and cell death in inherited neuromuscular disease
|
Morris, G.E
|
|
2000
|
|
4-5 |
p. 217-227
11 p.
|
artikel
|
| 27 |
Pre-clinical screening of drugs using the mdx mouse
|
Granchelli, Joseph A
|
|
2000
|
|
4-5 |
p. 235-239
5 p.
|
artikel
|
| 28 |
Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy
|
Vill, K.
|
|
2016
|
|
4-5 |
p. 322-325
4 p.
|
artikel
|
| 29 |
Regenerative capacity and the number of satellite cells in soleus muscles of normal and mdx mice
|
Reimann, J.
|
|
2000
|
|
4-5 |
p. 276-282
7 p.
|
artikel
|
| 30 |
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?
|
Mercuri, Eugenio
|
|
2016
|
|
4-5 |
p. 261-263
3 p.
|
artikel
|
| 31 |
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene
|
Fadaee, Mahsa
|
|
2016
|
|
4-5 |
p. 277-282
6 p.
|
artikel
|
| 32 |
Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands
|
Wallgren-Pettersson, Carina
|
|
2000
|
|
4-5 |
p. 299-306
8 p.
|
artikel
|
| 33 |
The Performance of the Upper Limb scores correlate with pulmonary function test measures and Egen Klassifikation scores in Duchenne muscular dystrophy
|
Lee, Ha Neul
|
|
2016
|
|
4-5 |
p. 264-271
8 p.
|
artikel
|
| 34 |
Therapeutic screening in the mdx mouse
|
Conte Camerino, Diana
|
|
2000
|
|
4-5 |
p. 233-234
2 p.
|
artikel
|
| 35 |
75th European Neuromuscular Centre International Workshop: 2nd Workshop on the Treatment of Muscular Dystrophy 10–12 December, 1999, Naarden, The Netherlands
|
Dubowitz, Victor
|
|
2000
|
|
4-5 |
p. 313-320
8 p.
|
artikel
|
| 36 |
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature
|
Biasini, F.
|
|
2016
|
|
4-5 |
p. 312-315
4 p.
|
artikel
|
| 37 |
Worsening of myasthenia gravis after administration of injectable long-acting risperidone for treatment of schizophrenia; first case report and a call for caution
|
Al-Hashel, Jasem Y.
|
|
2016
|
|
4-5 |
p. 309-311
3 p.
|
artikel
|
Tijdschrift beschrijving