| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies
|
D’Amico, A.
|
|
2013
|
23 |
5 |
p. 437-440
4 p.
|
artikel
|
| 2 |
A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies
|
Clarke, Nigel F.
|
|
2013
|
23 |
5 |
p. 432-436
5 p.
|
artikel
|
| 3 |
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene
|
Dlamini, Nomazulu
|
|
2013
|
23 |
5 |
p. 391-398
8 p.
|
artikel
|
| 4 |
Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood
|
Murakami, Nobuyuki
|
|
2013
|
23 |
5 |
p. 441-444
4 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2013
|
23 |
5 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Longitudinal observational study of sporadic inclusion body myositis: Implications for clinical trials
|
Cortese, A.
|
|
2013
|
23 |
5 |
p. 404-412
9 p.
|
artikel
|
| 7 |
Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis
|
Dejthevaporn, Charungthai
|
|
2013
|
23 |
5 |
p. 445-449
5 p.
|
artikel
|
| 8 |
Muscular dystrophy in dysferlin-deficient mouse models
|
Hornsey, Mark A.
|
|
2013
|
23 |
5 |
p. 377-387
11 p.
|
artikel
|
| 9 |
Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
|
Masciullo, M.
|
|
2013
|
23 |
5 |
p. 427-431
5 p.
|
artikel
|
| 10 |
Performance of individual items of the quantitative myasthenia gravis score
|
Barnett, T. Carolina
|
|
2013
|
23 |
5 |
p. 413-417
5 p.
|
artikel
|
| 11 |
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy
|
Feldkirchner, Sarah
|
|
2013
|
23 |
5 |
p. 418-426
9 p.
|
artikel
|
| 12 |
Rapidly progressive asymmetrical weakness in Charcot–Marie–Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy
|
Cottenie, Ellen
|
|
2013
|
23 |
5 |
p. 399-403
5 p.
|
artikel
|
| 13 |
Spinal muscular atrophy due to a “de novo” 1.3Mb deletion: Implication for genetic counseling
|
da Silva, Luciana Rodrigues Jacy
|
|
2013
|
23 |
5 |
p. 388-390
3 p.
|
artikel
|
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