Journal of Neurology · 1999 · 63 citations · 18 references
Life SciencesGeneticsNeurologyMedical GeneticsMitochondrial GeneticsNeurogeneticsCerebellar SystemsMendelian Neurological DisordersMotor Neuron DiseasesMotor Neuron DisordersNeurogenetic DisordersSpinocerebellar AtaxiasAtaxia SyndromesAutosomal Dominant AtaxiaHereditary AtaxiasMitochondrial AtaxiaPathogenic Gene IdentificationSpinocerebellar Ataxia GeneticsSpinocerebellar Ataxia Type 2
18
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