Ryoko Koike

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

Koji Abe, Masashi Aoki, Shoji Tsuji et al. · The Lancet Neurology · 2017 · 900 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Neurological Disorder +6

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

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

Distinct molecular mechanisms of <i>HTRA1</i> mutants in manifesting heterozygotes with CARASIL

Hiroaki Nozaki, Taisuke Kato, Megumi Nihonmatsu et al. · Neurology · 2016 · 111 citations

Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients

Hirokazu Furuya, Yoji Kukita, Sukehisa Nagano et al. · Human Genetics · 1997 · 70 citations

Immunology, Pathology, Galactosylceramidase Cdna +3