Kiyoshi Hayasaka

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 · 539 citations

Neurological Disorder, Genetic Disorder, Genetics +8

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Kiyoshi Hayasaka, Masato Himoro, Wataru Sato et al. · Nature Genetics · 1993 · 363 citations

Neurodegenerative Diseases, Peripheral Nerves, Genetic Disorder +8

Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A

Kazuki Kijima, Chikahiko Numakura, Hiroko Izumino et al. · Human Genetics · 2004 · 254 citations

Biology, Molecular Neuroscience, Mitochondrial Function +8

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 · 228 citations · Full text

G Protein-coupled Receptor, Genetic Disorder, Genetics +8

Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota et al. · Epilepsia · 2013 · 222 citations · Full text