Masatoyo Nishizawa

Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT

Kazuhiro Sanpei, Hiroki Takano, S. Igarashi et al. · Nature Genetics · 1996 · 771 citations

Molecular Neuroscience, Direct Identification, Cloning Technique +12

Association of HTRA1 Mutations and Familial Ischemic Cerebral Small-Vessel Disease

Kenju Hara, Atsushi Shiga, Toshio Fukutake et al. · New England Journal of Medicine · 2009 · 452 citations · Full text

Expanded polyglutamine stretches interact with TAFII130, interfering with CREB-dependent transcription

Takayoshi Shimohata, Toshihiro Nakajima, Mitsunori Yamada et al. · Nature Genetics · 2000 · 397 citations

Molecular Physiology, Signal Transduction, Molecular Regulation +9

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

Hidetoshi Date, Osamu Onodera, Hajime Tanaka et al. · Nature Genetics · 2001 · 382 citations

New Hit, Mendelian Disorder, Ophthalmology +10

<i>TDP</i>‐<i>43</i> mutation in familial amyotrophic lateral sclerosis

Akio Yokoseki, Atsushi Shiga, Chun‐Feng Tan et al. · Annals of Neurology · 2008 · 368 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Mendelian Disorder +13