A Mutation in the Tubulin-Encoding Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

by Shinobu Fukumura MD, Mitsuhiro Kato MD, PhD, Kentaro Kawamura MD, Akiko Tsuzuki MD, PhD, Hiroyuki Tsutsumi MD, PhD
Published 2016-08-01

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICP...

by Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, Seiji Mizuno, Yasutsugu Chinen, Shinobu Fukumura, Jun-Ichi Takanashi, Hitoshi Osaka, Nobuhiko Okamoto, Johji Inazawa
Published 2017-01-01

Resveratrol improves motor function in patients with muscular dystrophies: an open-label, single-arm, phase IIa study

by Kentaro Kawamura, Shinobu Fukumura, Koki Nikaido, Nobutada Tachi, Naoki Kozuka, Tsugumi Seino, Kingya Hatakeyama, Mitsuru Mori, Yoichi M. Ito, Akiyoshi Takami, Shiro Hinotsu, Atsushi Kuno, Yukihiko Kawasaki, Yoshiyuki Horio, Hiroyuki Tsutsumi
Published 2020-11-01