| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Absence of pathogenic mutations in presenilin homologue 2 in a conclusively 17-linked tau-negative dementia family
|
Rademakers, R.
|
|
2004
|
5 |
1 |
p. 79-80
|
artikel
|
| 2 |
Analysis of sequence variability of the bovine prion protein gene (PRNP) in German cattle breeds
|
Sander, Petra
|
|
2004
|
5 |
1 |
p. 19-25
|
artikel
|
| 3 |
Friedreich ataxia—update on pathogenesis and possible therapies
|
Voncken, Max
|
|
2004
|
5 |
1 |
p. 1-8
|
artikel
|
| 4 |
Genetic and environmental factors in the pathogenesis of Huntington’s disease
|
Dellen, Anton van
|
|
2004
|
5 |
1 |
p. 9-17
|
artikel
|
| 5 |
Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy
|
Gu, Wenli
|
|
2004
|
5 |
1 |
p. 41-44
|
artikel
|
| 6 |
Glu528del in NEFL is a polymorphic variant rather than a disease-causing mutation for Charcot-Marie-Tooth disease in Japan
|
Yamamoto, Masahiko
|
|
2004
|
5 |
1 |
p. 75-77
|
artikel
|
| 7 |
Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2
|
Jakubiczka, Sibylle
|
|
2004
|
5 |
1 |
p. 55-59
|
artikel
|
| 8 |
Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study
|
Pericak-Vance, Margaret A.
|
|
2004
|
5 |
1 |
p. 45-48
|
artikel
|
| 9 |
Mutation analysis of CBL-C and SPRED3 on 19q in human glioblastoma
|
Mizoguchi, Masahiro
|
|
2004
|
5 |
1 |
p. 81-82
|
artikel
|
| 10 |
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
|
Muglia, M.
|
|
2004
|
5 |
1 |
p. 49-54
|
artikel
|
| 11 |
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
|
Louhichi, Nacim
|
|
2004
|
5 |
1 |
p. 27-34
|
artikel
|
| 12 |
Novel splice site CACNA1A mutation causing episodic ataxia type 2
|
Kaunisto, M. A.
|
|
2004
|
5 |
1 |
p. 69-73
|
artikel
|
| 13 |
Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor
|
Karpati, Mazal
|
|
2004
|
5 |
1 |
p. 35-40
|
artikel
|
| 14 |
Sulfite and base for the treatment of familial amyloidotic polyneuropathy: two additive approaches to stabilize the conformation of human amyloidogenic transthyretin
|
Altland, Klaus
|
|
2004
|
5 |
1 |
p. 61-67
|
artikel
|
Tijdschrift beschrijving