Tetsuo Ashizawa

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

Olga Zhuchenko, Jennifer M. Bailey, Penelope E. Bonnen et al. · Nature Genetics · 1997 · 1.6K citations

Life Sciences, Genetics, Neurology +16

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

Ying‐Hui Fu, Antonio Pizzuti, Raymond G. Fenwick et al. · Science · 1992 · 1.5K citations

Life Sciences, Genetics, Molecular Genetics +11

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10

Tohru Matsuura, Takanori Yamagata, Daniel L. Burgess et al. · Nature Genetics · 2000 · 513 citations

Life Sciences, Genetics, Molecular Genetics +16

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

J.-M. Lee, E.M. Ramos, J.-H. Lee et al. · Neurology · 2012 · 391 citations · Full text

Life Sciences, Genetics, Neurology +15

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale

S. H. Subramony, William May, David R. Lynch et al. · Neurology · 2005 · 388 citations

Medicine, Neurology, Neuroscience +15