Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody

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

Marcy E. MacDonald · Cell · 1993 · 8.3K citations · Full text

Genome Instability, Novel Gene, Genetic Disorder +10

Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

Marian DiFiglia, Ellen Sapp, Kathryn Chase et al. · Science · 1997 · 2.9K citations

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

Developmental Biology, Somatic Variant, Mendelian Disorder +6

Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation

Stephen W. Davies, Mark Turmaine, Barbara A. Cozens et al. · Cell · 1997 · 2.2K citations · Full text

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