Characterization of mutant mice that express polyglutamine in cerebellar Purkinje cells

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

Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features

Alexandra Dürr, Giovanni Stévanin, Géraldine Cancel‐Tassin et al. · Annals of Neurology · 1996 · 447 citations

Medicine, Genetics, Neurology +17

Historical Review of the Significance of the Cerebellum and the Role of Purkinje Cells in Motor Learning

Masao Ito · Annals of the New York Academy of Sciences · 2002 · 316 citations

Life Sciences, Neurobiology, Neuroscience +17

Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain

Henry L. Paulson, Sonal S. Das, Peter B. Crino et al. · Annals of Neurology · 1997 · 273 citations

Life Sciences, Genetics, Neuroscience +13

Soluble polyglutamine oligomers formed prior to inclusion body formation are cytotoxic

Toshiaki Takahashi, Shinya Kikuchi, Shinichi Katada et al. · Human Molecular Genetics · 2007 · 262 citations

Life Sciences, Biochemistry, Molecular Biology +17