Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons
Eisuke Ichise; Tomohiro Chiyonobu; Mitsuru Ishikawa; Yasuyoshi Tanaka; Mami Shibata; Takenori Tozawa; Yoshihiro Taura; Satoshi Yamashita; Michiko Yoshida; Masafumi Morimoto; Norimichi Higurashi; Toshiyuki Yamamoto; Hideyuki Okano; Shinichi Hirose
Human Molecular Genetics, 07 May 2021, 30(14):1337 - 1348, Refereed
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy
Mami Shibata; Atsushi Ishii; Ayako Goto; Shinichi Hirose
Journal of Human Genetics, 02 Dec. 2020, 66(6):569 - 578, Refereed
Application of induced pluripotent stem cells in epilepsy
Shinichi Hirose; Yasuyoshi Tanaka; Mami Shibata; Yuichi Kimura; Mitsuru Ishikawa; Norimichi Higurashi; Toshiyuki Yamamoto; Eisuke Ichise; Tomohiro Chiyonobu; Atsushi Ishii
Molecular and Cellular Neuroscience, Oct. 2020, 108:103535 - 103535, Refereed
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy
Ayako Goto; Atsushi Ishii; Mami Shibata; Yukiko Ihara; Edward C. Cooper; Shinichi Hirose
Epilepsia, 16 Aug. 2019, 60(9):1870 - 1880, Refereed
A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.
Akihisa Okumura; Koichi Maruyama; Mami Shibata; Hirokazu Kurahashi; Atsushi Ishii; Shingo Numoto; Shinichi Hirose; Tomoko Kawai; Manami Iso; Shinsuke Kataoka; Yusuke Okuno; Hideki Muramatsu; Seiji Kojima
Brain & development, Nov. 2018, 40(10):926 - 930
Transcriptomic features associated with energy production in the muscles of Pacific bluefin tuna and Pacific cod
Mami Shibata; Miyuki Mekuchi; Kazuki Mori; Shigeru Muta; Vishwajit Sur Chowdhury; Yoji Nakamura; Nobuhiko Ojima; Kenji Saitoh; Takanori Kobayashi; Tokio Wada; Kiyoshi Inouye; Satoru Kuhara; Kosuke Tashiro
BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY, 2016, 80(6):1114 - 1124, Refereed
The RS domain of Arabidopsis splicing factor RRC1 is required for phytochrome B signal transduction
Hiromasa Shikata; Mami Shibata; Tomokazu Ushijima; Moeko Nakashima; Sam-Geun Kong; Ken Matsuoka; Chentao Lin; Tomonao Matsushita
PLANT JOURNAL, Jun. 2012, 70(5):727 - 738, Refereed
