nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy
|
Goebel, H.H |
|
1997 |
7 |
4 |
p. 229-230 2 p. |
artikel |
2 |
Channelopathies: ion channel disorders of muscle as a paradigm for paroxysmal disorders of the nervous system
|
Ptáček, Louis J |
|
1997 |
7 |
4 |
p. 250-255 6 p. |
artikel |
3 |
Correspondence
|
|
|
1997 |
7 |
4 |
p. 272- 1 p. |
artikel |
4 |
C4342T-mutation in the SCN4A gene on chromosome 17q in a Swedish family with paramyotonia congenita (Eulenburg) – correlations with clinical, neurophysiological and muscle biopsy data
|
Borg, Kristian |
|
1997 |
7 |
4 |
p. 231-233 3 p. |
artikel |
5 |
Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin β1?
|
Taylor, Jacqueline |
|
1997 |
7 |
4 |
p. 211-216 6 p. |
artikel |
6 |
From mutation to myotonia in sodium channel disorders
|
Cannon, Stephen C |
|
1997 |
7 |
4 |
p. 241-249 9 p. |
artikel |
7 |
Hypokalemic periodic paralysis: an autosomal dominant muscle disorder caused by mutations in a voltage-gated calcium channel
|
Lapie, Pascale |
|
1997 |
7 |
4 |
p. 234-240 7 p. |
artikel |
8 |
Proximal myotonic dystrophy—a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes?
|
Udd, Bjarne |
|
1997 |
7 |
4 |
p. 217-228 12 p. |
artikel |
9 |
Welander distal myopathy is not linked to other defined distal myopathy gene loci
|
Åhlberg, Gabrielle |
|
1997 |
7 |
4 |
p. 256-260 5 p. |
artikel |