Masafumi Sanefuji

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Jijun Wan, Michael Yourshaw, Hafsa Mamsa et al. · Nature Genetics · 2012 · 257 citations · Full text

Neurodegenerative Diseases, Genetic Disorder, Genetics +6

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells

Kazuhiro Ohkubo, Yasunari Sakai, Hirosuke Inoue et al. · Scientific Reports · 2015 · 144 citations · Full text

Psychometric profile of the Ages and Stages Questionnaires, Japanese translation

Hidetoshi Mezawa, Sayaka Aoki, Shoji F. Nakayama et al. · Pediatrics International · 2019 · 113 citations · Full text

Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan

Hiroyuki Torisu, Ryutaro Kira, Yoshito Ishizaki et al. · Brain and Development · 2009 · 109 citations

Neurological Disorder, Medicine, Pediatrics +7

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

Eri Imagawa, Ken Higashimoto, Yasunari Sakai et al. · Human Mutation · 2017 · 101 citations

Histone Modifications, Epigenetic Change, Genetics +19