| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations
|
L., Levesque
|
|
2013
|
23 |
3 |
p. 239-242
4 p.
|
artikel
|
| 2 |
A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy
|
Kierdaszuk, Biruta
|
|
2013
|
23 |
3 |
p. 219-228
10 p.
|
artikel
|
| 3 |
An unusual case of scapula winging
|
Walter, J.
|
|
2013
|
23 |
3 |
p. 277-278
2 p.
|
artikel
|
| 4 |
Centronuclear myopathy related to dynamin 2 mutations: Clinical, morphological, muscle imaging and genetic features of an Italian cohort
|
Catteruccia, Michela
|
|
2013
|
23 |
3 |
p. 229-238
10 p.
|
artikel
|
| 5 |
Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo
|
Borges, Alexandre S.
|
|
2013
|
23 |
3 |
p. 206-213
8 p.
|
artikel
|
| 6 |
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
|
Maggi, L.
|
|
2013
|
23 |
3 |
p. 195-205
11 p.
|
artikel
|
| 7 |
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions
|
Sato, Takatoshi
|
|
2013
|
23 |
3 |
p. 269-276
8 p.
|
artikel
|
| 8 |
Editorial Board
|
|
|
2013
|
23 |
3 |
p. IFC-
1 p.
|
artikel
|
| 9 |
Homozygous Lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy
|
Wiltshire, Katie M.
|
|
2013
|
23 |
3 |
p. 265-268
4 p.
|
artikel
|
| 10 |
Human congenital myopathy actin mutants cause myopathy and alter Z-disc structure in Drosophila flight muscle
|
Sevdali, Maria
|
|
2013
|
23 |
3 |
p. 243-255
13 p.
|
artikel
|
| 11 |
Large duplication in MTM1 associated with myotubular myopathy
|
Amburgey, K.
|
|
2013
|
23 |
3 |
p. 214-218
5 p.
|
artikel
|
| 12 |
Quality of hospital care for neuromuscular disorders from the patients’ perspective
|
Nijman, J.L.
|
|
2013
|
23 |
3 |
p. 279-282
4 p.
|
artikel
|
| 13 |
Report on the 11th annual scientific meeting of the Asian and Oceanian Myology Center, Kyoto 2012
|
Bretag, Allan H.
|
|
2013
|
23 |
3 |
p. 287-
1 p.
|
artikel
|
| 14 |
The Rasch-built Pompe-specific Activity (R-PAct) scale
|
van der Beek, N.A.M.E.
|
|
2013
|
23 |
3 |
p. 256-264
9 p.
|
artikel
|
| 15 |
Transition in Duchenne Muscular Dystrophy: An expert meeting report and description of transition needs in an emergent patient population
|
Schrans, D.G.M.
|
|
2013
|
23 |
3 |
p. 283-286
4 p.
|
artikel
|
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