nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
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 |
26 |
4-5 |
p. 326-327 2 p. |
artikel |
2 |
C5b-9 deposits on endomysial capillaries in non-dermatomyositis cases
|
Braczynski, Anne K. |
|
2016 |
26 |
4-5 |
p. 283-291 9 p. |
artikel |
3 |
Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations
|
Hamanaka, Kohei |
|
2016 |
26 |
4-5 |
p. 300-308 9 p. |
artikel |
4 |
Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion
|
Jouaud, Maxime |
|
2016 |
26 |
4-5 |
p. 316-321 6 p. |
artikel |
5 |
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 |
26 |
4-5 |
p. 329- 1 p. |
artikel |
6 |
Corrigendum to “The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)”
|
Kaplan, Jean-Claude |
|
2016 |
26 |
4-5 |
p. 330- 1 p. |
artikel |
7 |
Editorial Board
|
|
|
2016 |
26 |
4-5 |
p. CO2- 1 p. |
artikel |
8 |
“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network
|
Mancuso, Michelangelo |
|
2016 |
26 |
4-5 |
p. 272-276 5 p. |
artikel |
9 |
Noncompaction and the neuromuscular connection
|
Finsterer, Josef |
|
2016 |
26 |
4-5 |
p. 328- 1 p. |
artikel |
10 |
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers
|
Savarese, Marco |
|
2016 |
26 |
4-5 |
p. 292-299 8 p. |
artikel |
11 |
Proximal muscular atrophy and weakness: An unusual adverse effect of deferasirox iron chelation therapy
|
Vill, K. |
|
2016 |
26 |
4-5 |
p. 322-325 4 p. |
artikel |
12 |
Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy?
|
Mercuri, Eugenio |
|
2016 |
26 |
4-5 |
p. 261-263 3 p. |
artikel |
13 |
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene
|
Fadaee, Mahsa |
|
2016 |
26 |
4-5 |
p. 277-282 6 p. |
artikel |
14 |
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 |
26 |
4-5 |
p. 264-271 8 p. |
artikel |
15 |
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature
|
Biasini, F. |
|
2016 |
26 |
4-5 |
p. 312-315 4 p. |
artikel |
16 |
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 |
26 |
4-5 |
p. 309-311 3 p. |
artikel |