| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A new distal myopathy with mutation in anoctamin 5
|
Mahjneh, Ibrahim
|
|
2010
|
20 |
12 |
p. 791-795
5 p.
|
artikel
|
| 2 |
A new truncating MPZ mutation associated with a very mild CMT1 B phenotype
|
Piazza, Selina
|
|
2010
|
20 |
12 |
p. 817-819
3 p.
|
artikel
|
| 3 |
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
|
Taratuto, A.L.
|
|
2010
|
20 |
12 |
p. 783-790
8 p.
|
artikel
|
| 4 |
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
|
Munot, P.
|
|
2010
|
20 |
12 |
p. 796-800
5 p.
|
artikel
|
| 5 |
Dystrophin-deficient zebrafish feature aspects of the Duchenne muscular dystrophy pathology
|
Berger, Joachim
|
|
2010
|
20 |
12 |
p. 826-832
7 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2010
|
20 |
12 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study
|
van Capelle, C.I.
|
|
2010
|
20 |
12 |
p. 775-782
8 p.
|
artikel
|
| 8 |
Evaluation of commercial dysferlin antibodies on canine, mouse and human skeletal muscle
|
Guo, Ling T.
|
|
2010
|
20 |
12 |
p. 820-825
6 p.
|
artikel
|
| 9 |
Health supervision and anticipatory guidance in adult myotonic dystrophy type 1
|
Gagnon, C.
|
|
2010
|
20 |
12 |
p. 847-851
5 p.
|
artikel
|
| 10 |
Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations
|
Forrest, Sarah
|
|
2010
|
20 |
12 |
p. 810-816
7 p.
|
artikel
|
| 11 |
Quantitative ultrasound using backscatter analysis in Duchenne and Becker muscular dystrophy
|
Zaidman, Craig M.
|
|
2010
|
20 |
12 |
p. 805-809
5 p.
|
artikel
|
| 12 |
Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK
|
Robb, Stephanie A.
|
|
2010
|
20 |
12 |
p. 833-838
6 p.
|
artikel
|
| 13 |
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation
|
Liewluck, Teerin
|
|
2010
|
20 |
12 |
p. 801-804
4 p.
|
artikel
|
| 14 |
168th ENMC International Workshop: Outcome measures and clinical trials in Charcot–Marie–Tooth disease (CMT)
|
Reilly, M.M.
|
|
2010
|
20 |
12 |
p. 839-846
8 p.
|
artikel
|
| 15 |
The 2011 version of the gene table of neuromuscular disorders
|
Kaplan, Jean-Claude
|
|
2010
|
20 |
12 |
p. 852-873
22 p.
|
artikel
|
| 16 |
Where do we stand in enzyme replacement therapy in Pompe’s disease?
|
van der Ploeg, A.T.
|
|
2010
|
20 |
12 |
p. 773-774
2 p.
|
artikel
|
| 17 |
WMS 2010
|
|
|
2010
|
20 |
12 |
p. I-
1 p.
|
artikel
|
| 18 |
WMS News
|
|
|
2010
|
20 |
12 |
p. III-IV
nvt p.
|
artikel
|
| 19 |
WMS online application form
|
|
|
2010
|
20 |
12 |
p. II-
1 p.
|
artikel
|
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