• Publications
  • Influence

Claim Your Author Page
Ensure your research is discoverable on Semantic Scholar. Claiming your author page allows you to personalize the information displayed and manage your publications. Semantic Scholar automatically creates author pages based on data aggregated from public sources and our publisher partners.
  • Naoki Hattori, Masahiko Yamamoto, +14 authors Gen Sobue
  • Medicine, Biology
  • Brain : a journal of neurology
  • 2003
  • Three genes commonly causing Charcot-Marie-Tooth disease (CMT) encode myelin-related proteins: peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32). DemyelinatingExpand
  • Mitsuhiro Kato, Shinji Saitoh, +6 authors Kiyoshi Hayasaka
  • Biology, Medicine
  • American journal of human genetics
  • 2007 (First Publication: 1 August 2007)
  • Early infantile epileptic encephalopathy with suppression-burst pattern (EIEE) is one of the most severe and earliest forms of epilepsy, often evolving into West syndrome; however, the pathogenesisExpand
  • Kazuyuki Nakamura, Hirofumi Kodera, +23 authors Hirotomo Saitsu
  • Medicine, Biology
  • American journal of human genetics
  • 2013 (First Publication: 5 September 2013)
  • Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing andExpand