Akihiko Ishiyama

De novo <i>GABRA1</i> mutations in Ohtahara and West syndromes

Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato et al. · Epilepsia · 2016 · 92 citations · Full text

Medicine, Genetics, Molecular Genetics +17

De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka et al. · Journal of Human Genetics · 2015 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice

Yasunari Matsuzaka, Jun Tanihata, Hirofumi Komaki et al. · PLoS ONE · 2016 · 68 citations · Full text

Medicine, Cell Biology, Pathobiology +16

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto‐Shimojima et al. · Brain and Development · 2019 · 63 citations

Life Sciences, Genetics, Molecular Genetics +16

A family of distal arthrogryposis type 5 due to a novel <i>PIEZO2</i> mutation

Mariko Okubo, Atsushi Fujita, Yoshiaki Saito et al. · American Journal of Medical Genetics Part A · 2015 · 43 citations

Medicine, Genetics, Molecular Genetics +15