nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene
|
Siciliano, G. |
|
2003 |
13 |
2 |
p. 162-165 4 p. |
artikel |
2 |
Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies
|
Nolan, M.A. |
|
2003 |
13 |
2 |
p. 129-132 4 p. |
artikel |
3 |
Childhood chronic inflammatory demyelinating polyneuropathy with central nervous system demyelination resembling multiple sclerosis
|
Rodriguez-Casero, M.Victoria |
|
2003 |
13 |
2 |
p. 158-161 4 p. |
artikel |
4 |
Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders
|
Mellies, Uwe |
|
2003 |
13 |
2 |
p. 123-128 6 p. |
artikel |
5 |
Editorial Board
|
|
|
2003 |
13 |
2 |
p. IFC- 1 p. |
artikel |
6 |
Instructions to authors
|
|
|
2003 |
13 |
2 |
p. 190-191 2 p. |
artikel |
7 |
Muscular Dystrophy Campaign sponsored workshop: Recommendation for Respiratory Care of Children with Spinal Muscular Atrophy Type II and III. 13th February 2002, London, UK
|
Manzur, Adnan Y. |
|
2003 |
13 |
2 |
p. 184-189 6 p. |
artikel |
8 |
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
|
Davis, M.R |
|
2003 |
13 |
2 |
p. 151-157 7 p. |
artikel |
9 |
103rd ENMC International Workshop: Designing rational therapy of SMA based on the understanding of its pathophysiology, 18–20 January 2002, Naarden, The Netherlands
|
Vrbová, Gerta |
|
2003 |
13 |
2 |
p. 173-178 6 p. |
artikel |
10 |
93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) – clinical picture (6–8 April 2001, Naarden, The Netherlands)
|
Zerres, Klaus |
|
2003 |
13 |
2 |
p. 179-183 5 p. |
artikel |
11 |
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
|
Van Goethem, G |
|
2003 |
13 |
2 |
p. 133-142 10 p. |
artikel |
12 |
107th ENMC International Workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands
|
Bushby, K. |
|
2003 |
13 |
2 |
p. 166-172 7 p. |
artikel |
13 |
Transcriptional activation of the utrophin promoter B by a constitutively active Ets-transcription factor
|
Briguet, Alexandre |
|
2003 |
13 |
2 |
p. 143-150 8 p. |
artikel |