| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Spanish sporadic case of deafness–dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes
|
Aguirre, Luis A.
|
|
2008
|
18 |
12 |
p. 979-981
3 p.
|
artikel
|
| 2 |
Being the lifeline: The parent experience of caring for a child with neuromuscular disease on home mechanical ventilation
|
Mah, Jean K.
|
|
2008
|
18 |
12 |
p. 983-988
6 p.
|
artikel
|
| 3 |
Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance
|
Beckmann, Jacques S.
|
|
2008
|
18 |
12 |
p. 913-921
9 p.
|
artikel
|
| 4 |
Danon disease: A novel LAMP2 mutation affecting the pre-mRNA splicing and causing aberrant transcripts and partial protein expression
|
Di Blasi, Claudia
|
|
2008
|
18 |
12 |
p. 962-966
5 p.
|
artikel
|
| 5 |
Editorial Board
|
|
|
2008
|
18 |
12 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – Quantification of striated α-actins by MRM-mass spectrometry
|
Ravenscroft, Gianina
|
|
2008
|
18 |
12 |
p. 953-958
6 p.
|
artikel
|
| 7 |
Hand involvement in children with Charcot–Marie-Tooth disease type 1A
|
Burns, Joshua
|
|
2008
|
18 |
12 |
p. 970-973
4 p.
|
artikel
|
| 8 |
HLA-DRB1 polymorphisms distribution in chronic dysimmune polyneuropathy
|
Gironi, M.
|
|
2008
|
18 |
12 |
p. 967-969
3 p.
|
artikel
|
| 9 |
Intermittent inotrope infusion for end stage heart failure in Duchenne muscular dystrophy
|
van Baalen, Andreas
|
|
2008
|
18 |
12 |
p. 1005-1006
2 p.
|
artikel
|
| 10 |
International workshop: Glycosylation defects in muscular dystrophies – Enhancing glycosylation to fight muscle diseases, 15–16 May, 2008, Charlotte, USA
|
Chan, Yiumo Michael
|
|
2008
|
18 |
12 |
p. 1002-1004
3 p.
|
artikel
|
| 11 |
Muscular dystrophy associated with α-dystroglycan deficiency in Sphynx and Devon Rex cats
|
Martin, Paul T.
|
|
2008
|
18 |
12 |
p. 942-952
11 p.
|
artikel
|
| 12 |
Response to letter
|
Cripe, Linda H.
|
|
2008
|
18 |
12 |
p. 1006-
1 p.
|
artikel
|
| 13 |
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
|
Shalaby, Sherine
|
|
2008
|
18 |
12 |
p. 959-961
3 p.
|
artikel
|
| 14 |
Sarcoglycanopathies: Can muscle immunoanalysis predict the genotype?
|
Klinge, Lars
|
|
2008
|
18 |
12 |
p. 934-941
8 p.
|
artikel
|
| 15 |
Skin changes in Ullrich congenital muscular dystrophy
|
Nadeau, Amelie
|
|
2008
|
18 |
12 |
p. 982-
1 p.
|
artikel
|
| 16 |
150th ENMC International Workshop: Core Myopathies, 9–11th March 2007, Naarden, The Netherlands
|
Jungbluth, Heinz
|
|
2008
|
18 |
12 |
p. 989-996
8 p.
|
artikel
|
| 17 |
157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands
|
Sárközy, Anna
|
|
2008
|
18 |
12 |
p. 997-1001
5 p.
|
artikel
|
| 18 |
TPM2 mutation
|
Brandis, Almuth
|
|
2008
|
18 |
12 |
p. 1005-
1 p.
|
artikel
|
| 19 |
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient
|
Olivé, Montse
|
|
2008
|
18 |
12 |
p. 929-933
5 p.
|
artikel
|
| 20 |
Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)
|
Hackman, Peter
|
|
2008
|
18 |
12 |
p. 922-928
7 p.
|
artikel
|
| 21 |
Two Spanish families with Charcot–Marie–Tooth type 2A: Clinical, electrophysiological and molecular findings
|
Banchs, I.
|
|
2008
|
18 |
12 |
p. 974-978
5 p.
|
artikel
|
| 22 |
WMS News
|
|
|
2008
|
18 |
12 |
p. II-III
nvt p.
|
artikel
|
| 23 |
WMS online application form
|
|
|
2008
|
18 |
12 |
p. I-
1 p.
|
artikel
|
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