Human Genetics · 2000 · 125 citations · 31 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersGenetic SusceptibilityGenetic SyndromesHereditary NeuropathiesNeurogenetic DisordersAtaxia SyndromesAutosomal Dominant AtaxiaHereditary AtaxiasPathogenic Gene IdentificationSpinocerebellar Ataxia Type 2
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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