Hiroyuki Ishiura

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Elisa Majounie, Alan E. Renton, Kin Y. Mok et al. · The Lancet Neurology · 2012 · 1.2K citations · Full text

Life Sciences, Molecular Genetics, Neurology +15

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 · 925 citations

Life Sciences, Neurology, Neuroscience +11

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 · 447 citations

Medicine, Neurology, Neuroscience +15

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

Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui et al. · Nature Genetics · 2018 · 335 citations

Medicine, Neurology, Neuroscience +11

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura et al. · Journal of Human Genetics · 2016 · 303 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17