Hidetoshi Date

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease

Hiroyuki Ishiura, Shota Shibata, Jun Yoshimura et al. · Nature Genetics · 2019 · 424 citations

Oculopharyngodistal Myopathy, Autoimmune Disease, Neurological Disorder +10

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

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch

Shuichi Igarashi, Reiji Koide, Takayoshi Shimohata et al. · Nature Genetics · 1998 · 357 citations

Polyglutamine Stretch, Drpla Protein, Protein Function +9

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 323 citations

Medicine, Neuroscience, Neuropathology +3

CpG Demethylation Enhances Alpha-Synuclein Expression and Affects the Pathogenesis of Parkinson's Disease

Lumine Matsumoto, Hiroshi Takuma, Akira Tamaoka et al. · PLoS ONE · 2010 · 307 citations · Full text