A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki et al. · Nature Genetics · 1994 · 1.8K citations

Life Sciences, Genetics, Molecular Genetics +11

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Life Sciences, Genetics, Neurology +16

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

Stefan-M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk et al. · Nature Genetics · 1996 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +12

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Georges Imbert, Frédéric Saudou, Gaël Yvert et al. · Nature Genetics · 1996 · 855 citations

Life Sciences, Genetics, Molecular Genetics +13

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Kazuhiro Sanpei, Hiroki Takano, S. Igarashi et al. · Nature Genetics · 1996 · 774 citations

Life Sciences, Genetics, Molecular Genetics +17