A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations

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

Cag Expansions, Genetic Disorder, Genetics +9

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Harry T. Orr, Ming‐Yi Chung, Sandro Banfi et al. · Nature Genetics · 1993 · 1.6K citations

Molecular Neuroscience, Genetics, Molecular Biology +6

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

Small Polyglutamine Expansions, Neurobiology Of Disease, Molecular Neuroscience +14

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

Molecular Neuroscience, Genetic Disorder, Medicine +6

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 · 846 citations

Molecular Neuroscience, Spinocerebellar Ataxia 2, High Sensitivity +11