Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3

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

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Patrı́cia Maciel, Cláudia Gaspar, Anita L. DeStefano et al. · PubMed · 1995 · 320 citations

Medicine, Molecular Genetics, Molecular Medicine +12

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

Epidemiology and clinical aspects of Machado-Joseph disease.

Jorge Sequeiros, Paula Coutinho · PubMed · 1993 · 203 citations

Veterinary Medicine, Infectious Diseases, Pathobiology +5

A Mutant Ataxin-3 Putative-Cleavage Fragment in Brains of Machado-Joseph Disease Patients and Transgenic Mice Is Cytotoxic above a Critical Concentration

Daniel Goti, Scott M. Katzen, Jesse Mez et al. · Journal of Neuroscience · 2004 · 195 citations · Full text

Life Sciences, Neurology, Neuroscience +17