| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel mutation in the mitochondrial tRNAPhe gene associated with mitochondrial myopathy
|
Moslemi, A.-R.
|
|
2004
|
14 |
1 |
p. 46-50
5 p.
|
artikel
|
| 2 |
Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)
|
Tonini, M.M.O
|
|
2004
|
14 |
1 |
p. 33-38
6 p.
|
artikel
|
| 3 |
A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration
|
Weir, Andrew P.
|
|
2004
|
14 |
1 |
p. 19-23
5 p.
|
artikel
|
| 4 |
Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy
|
Di Lazzaro, V.
|
|
2004
|
14 |
1 |
p. 39-45
7 p.
|
artikel
|
| 5 |
Clinical Neurology
|
Hankey, G.J.
|
|
2004
|
14 |
1 |
p. 83-
1 p.
|
artikel
|
| 6 |
Commentary from the Editor
|
Dubowitz, Victor
|
|
2004
|
14 |
1 |
p. 1-3
3 p.
|
artikel
|
| 7 |
Congenital
|
|
|
2004
|
14 |
1 |
p. 117-122
6 p.
|
artikel
|
| 8 |
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
|
Béroud, Christophe
|
|
2004
|
14 |
1 |
p. 10-18
9 p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
2004
|
14 |
1 |
p. ii-
1 p.
|
artikel
|
| 10 |
Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice, 3rd edition
|
Day, John W.
|
|
2004
|
14 |
1 |
p. 83-
1 p.
|
artikel
|
| 11 |
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation
|
Yasaki, Eriko
|
|
2004
|
14 |
1 |
p. 24-32
9 p.
|
artikel
|
| 12 |
Gene Location
|
|
|
2004
|
14 |
1 |
p. 85-106
22 p.
|
artikel
|
| 13 |
Gene Mutation
|
|
|
2004
|
14 |
1 |
p. 107-116
10 p.
|
artikel
|
| 14 |
Identification of a locus for an autosomal recessive hyaline body myopathy at chromosome 3p22.2–p21.32
|
Önengüt, Suna
|
|
2004
|
14 |
1 |
p. 4-9
6 p.
|
artikel
|
| 15 |
Instructions to authors
|
|
|
2004
|
14 |
1 |
p. 123-124
2 p.
|
artikel
|
| 16 |
2003 International Friedreich's Ataxia Research Conference, 14–16 February 2003, Bethesda, MD, USA
|
Seznec, Hervé
|
|
2004
|
14 |
1 |
p. 70-82
13 p.
|
artikel
|
| 17 |
Muscle MRI in adult-onset acid maltase deficiency
|
Pichiecchio, Anna
|
|
2004
|
14 |
1 |
p. 51-55
5 p.
|
artikel
|
| 18 |
Muscular Dystrophy – the Facts
|
Gazzard, Stephen
|
|
2004
|
14 |
1 |
p. 84-
1 p.
|
artikel
|
| 19 |
117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders — Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4–6 April 2003, Naarden, The Netherlands
|
Wallgren-Pettersson, Carina
|
|
2004
|
14 |
1 |
p. 56-69
14 p.
|
artikel
|
Tijdschrift beschrijving