| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A missense mutation in the SOD1 gene in patients with amyotrophic lateral sclerosis from the Kii Peninsula and its vicinity, Japan
|
Kikugawa, K.
|
|
1997
|
1 |
2 |
p. 113-115
|
artikel
|
| 2 |
Characterization of the rat spinocerebellar ataxia type 3 gene
|
Schmitt, I.
|
|
1997
|
1 |
2 |
p. 103-112
|
artikel
|
| 3 |
Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity
|
Pericak-Vance, M.A.
|
|
1997
|
1 |
2 |
p. 89-93
|
artikel
|
| 4 |
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane
|
Yorifuji, H.
|
|
1997
|
1 |
2 |
p. 135-140
|
artikel
|
| 5 |
Further exclusion of FSHD1B from the telomeric region of 10q
|
Speer, M.C.
|
|
1997
|
1 |
2 |
p. 151-152
|
artikel
|
| 6 |
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
|
Hamida, C.B.
|
|
1997
|
1 |
2 |
p. 129-133
|
artikel
|
| 7 |
Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia
|
Scott, W.K.
|
|
1997
|
1 |
2 |
p. 95-102
|
artikel
|
| 8 |
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
|
Rochette, C.F.
|
|
1997
|
1 |
2 |
p. 141-147
|
artikel
|
| 9 |
Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease
|
Migheli, A.
|
|
1997
|
1 |
2 |
p. 81-87
|
artikel
|
| 10 |
Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population
|
Latour, P.
|
|
1997
|
1 |
2 |
p. 117-123
|
artikel
|
| 11 |
The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians
|
Speer, M.C.
|
|
1997
|
1 |
2 |
p. 149-150
|
artikel
|
| 12 |
Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion
|
Weber, Y.
|
|
1997
|
1 |
2 |
p. 125-127
|
artikel
|
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