| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations
|
Orrell, Richard W.
|
|
2000
|
10 |
1 |
p. 63-68
6 p.
|
artikel
|
| 2 |
An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy
|
Solaro, C
|
|
2000
|
10 |
1 |
p. 52-55
4 p.
|
artikel
|
| 3 |
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity
|
Salih, M.A.M
|
|
2000
|
10 |
1 |
p. 10-15
6 p.
|
artikel
|
| 4 |
Dermatomyositis and Whipple's disease
|
Helliwell, T.R.
|
|
2000
|
10 |
1 |
p. 46-51
6 p.
|
artikel
|
| 5 |
Different effects of mexiletine on two mutant sodium channels causing paramyotonia congenita and hyperkalemic periodic paralysis
|
Weckbecker, K.
|
|
2000
|
10 |
1 |
p. 31-39
9 p.
|
artikel
|
| 6 |
Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies
|
Siciliano, Gabriele
|
|
2000
|
10 |
1 |
p. 40-45
6 p.
|
artikel
|
| 7 |
Identification of homozygous and heterozygous dy 2J mice by PCR
|
Vilquin, Jean-Thomas
|
|
2000
|
10 |
1 |
p. 59-62
4 p.
|
artikel
|
| 8 |
Muscle membrane–skeleton protein changes and histopathological characterization of muscle-eye-brain disease
|
Auranen, M
|
|
2000
|
10 |
1 |
p. 16-23
8 p.
|
artikel
|
| 9 |
Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden
|
Darin, N
|
|
2000
|
10 |
1 |
p. 1-9
9 p.
|
artikel
|
| 10 |
Single large-scale mitochondrial DNA deletion in a patient with encephalopathy, cardiomyopathy, and prominent intestinal pseudo-obstruction
|
Campos, Yolanda
|
|
2000
|
10 |
1 |
p. 56-58
3 p.
|
artikel
|
| 11 |
Ten years of ENMC – from a patients’ initiative to a successful European research institution: the story of the European Neuromuscular Centre
|
Rüdel, Reinhardt
|
|
2000
|
10 |
1 |
p. 75-82
8 p.
|
artikel
|
| 12 |
5th Workshop of the European CMT Consortium, 69th ENMC International Workshop: Therapeutic approaches in CMT neuropathies and related disorders 23–25 April 1999, Soestduinen, The Netherlands
|
Martini, Rudolf
|
|
2000
|
10 |
1 |
p. 69-74
6 p.
|
artikel
|
| 13 |
Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression
|
Ellis, Juliet A
|
|
2000
|
10 |
1 |
p. 24-30
7 p.
|
artikel
|
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