Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Marcy E. MacDonald · Cell · 1993 · 8.4K citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

Medicine, Genetics, Molecular Genetics +14

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

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

Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

Reiji Koide, Takeshi Ikeuchi, Osamu Onodera et al. · Nature Genetics · 1994 · 1.1K citations

Dentistry, Oral Biology, Craniofacial Genetics +1