Hitoshi Osaka

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Hirotomo Saitsu, Mitsuhiro Kato, Takeshi Mizuguchi et al. · Nature Genetics · 2008 · 549 citations

Medicine, Genetics, Molecular Genetics +12

Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron

Hitoshi Osaka · Human Molecular Genetics · 2003 · 359 citations

Life Sciences, Biochemistry, Neuroscience +13

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita et al. · The American Journal of Human Genetics · 2013 · 239 citations · Full text

Life Sciences, Genetics, Molecular Biology +13

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

De novo mutations of voltage-gated sodium channel α _II gene <i>SCN2A</i> in intractable epilepsies

Ikuo Ogiwara, Koichi Ito, Yukio Sawaishi et al. · Neurology · 2009 · 201 citations · Full text

Medicine, Genetics, Neurology +17