SLC16A2 mutations in two Japanese patients with Allan–Herndon–Dudley syndrome

por Yamamoto, Toshiyuki, Shimojima, Keiko, Umemura, Ayako, Uematsu, Mitsugu, Nakayama, Tojo, Inoue, Ken
Publicado 2014

Clinical and genetic diversities of Charcot‐Marie‐Tooth disease with MFN2 mutations in a large case study

por Ando, Masahiro, Hashiguchi, Akihiro, Okamoto, Yuji, Yoshimura, Akiko, Hiramatsu, Yu, Yuan, Junhui, Higuchi, Yujiro, Mitsui, Jun, Ishiura, Hiroyuki, Umemura, Ayako, Maruyama, Koichi, Matsushige, Takeshi, Morishita, Shinichi, Nakagawa, Masanori, Tsuji, Shoji, Takashima, Hiroshi
Publicado 2017

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

por Negishi, Yutaka, Miya, Fuyuki, Hattori, Ayako, Johmura, Yoshikazu, Nakagawa, Motoo, Ando, Naoki, Hori, Ikumi, Togawa, Takao, Aoyama, Kohei, Ohashi, Kei, Fukumura, Shinobu, Mizuno, Seiji, Umemura, Ayako, Kishimoto, Yoko, Okamoto, Nobuhiko, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Nakanishi, Makoto, Saitoh, Shinji
Publicado 2017