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European Journal of Human Genetics : EJHG
|
December 22, 1999
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG)
G Stevanin, G David, A Dürr, et al.
Journal of Neurology
|
April 1, 1997
Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus
K Bürk, G Stevanin, O Didierjean, et al.
Nature
|
November 23, 1995
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Y Trottier, Y Lutz, G Stevanin, et al.
Nature Genetics
|
May 1, 1995
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
A Benomar, L Krols, G Stevanin, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 1, 1993
Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease
A Brice, A L Boch, G Stevanin, et al.
American Journal of Human Genetics
|
June 1, 1997
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon
G Stevanin, A S Lebre, C Mathieux, et al.
Human Molecular Genetics
|
November 16, 2001
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3
C Zander, J Takahashi, K H El Hachimi, et al.
American Journal of Human Genetics
|
October 1, 1995
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
G Cancel, N Abbas, G Stevanin, et al.
Brain : a Journal of Neurology
|
December 1, 1995
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
A Dürr, D Smadja, G Cancel, et al.
Neurology
|
December 31, 1997
Clinical and molecular features of spinocerebellar ataxia type 6
G Stevanin, A Dürr, G David, et al.
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Showing results (31-40 of 81) with videos related to
Sort By:
Page
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European Journal of Human Genetics : EJHG
|
December 22, 1999
Multiple origins of the spinocerebellar ataxia 7 (SCA7) mutation revealed by linkage disequilibrium studies with closely flanking markers, including an intragenic polymorphism (G3145TG/A3145TG)
G Stevanin, G David, A Dürr, et al.
Journal of Neurology
|
April 1, 1997
Clinical and genetic analysis of three German kindreds with autosomal dominant cerebellar ataxia type I linked to the SCA2 locus
K Bürk, G Stevanin, O Didierjean, et al.
Nature
|
November 23, 1995
Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias
Y Trottier, Y Lutz, G Stevanin, et al.
Nature Genetics
|
May 1, 1995
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1
A Benomar, L Krols, G Stevanin, et al.
Journal of Neurology, Neurosurgery, and Psychiatry
|
January 1, 1993
Absence of the amyloid precursor protein gene mutation (APP717: Val->Ile) in 85 cases of early onset Alzheimer's disease
A Brice, A L Boch, G Stevanin, et al.
American Journal of Human Genetics
|
June 1, 1997
Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon
G Stevanin, A S Lebre, C Mathieux, et al.
Human Molecular Genetics
|
November 16, 2001
Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3
C Zander, J Takahashi, K H El Hachimi, et al.
American Journal of Human Genetics
|
October 1, 1995
Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus
G Cancel, N Abbas, G Stevanin, et al.
Brain : a Journal of Neurology
|
December 1, 1995
Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies). Clinical and neuropathological analysis of 53 patients from three unrelated SCA2 families
A Dürr, D Smadja, G Cancel, et al.
Neurology
|
December 31, 1997
Clinical and molecular features of spinocerebellar ataxia type 6
G Stevanin, A Dürr, G David, et al.
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of 9