Nature Genetics · 2000 · 513 citations · 17 references
Life SciencesGeneticsMolecular GeneticsMitochondrial GeneticsMolecular NeuroscienceNeurogeneticsMitochondrial Neurological DisordersNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersNeurogenetic DisordersSpinocerebellar AtaxiasExpansionHereditary AtaxiasMitochondrial AtaxiaRepeat Expansion DisordersRepeat Expansion MutationsSpinocerebellar Ataxia GeneticsTrinucleotide Repeat Disorders
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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
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
The DNA sequence of human chromosome 22
Ian Dunham, Adrienne Hunt, John Collins et al. · Nature · 1999 · 1.2K citations · Full text