Journal of the Neurological Sciences · 2003 · 92 citations · 48 references
Life SciencesGeneticsNeurologyHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersHereditary NeuropathiesMendelian Neurological DisordersNeurodegenerative DiseasesNeurodevelopmental DisordersNeurogenetic DisordersAtaxia SyndromesAutosomal Dominant AtaxiaHereditary AtaxiasPediatric Ataxia
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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
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
Gilles David, Nacer Abbas, Giovanni Stévanin et al. · Nature Genetics · 1997 · 772 citations