Mutation at the SCA17 locus is not a common cause of parkinsonism

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.

Andrew Hughes, S. E. Daniel, Linda Kilford et al. · Journal of Neurology Neurosurgery & Psychiatry · 1992 · 10.4K citations · Full text

Medicine, Neurology, Pathology +15

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 · 1.7K citations

Life Sciences, Genetics, Molecular Genetics +14

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

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Michael D. Koob, Melinda L. Moseley, Lawrence J. Schut et al. · Nature Genetics · 1999 · 639 citations

Medicine, Molecular Genetics, Neurology +13

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

Koichiro Nakamura · Human Molecular Genetics · 2001 · 627 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17