柴田磨己

シバタマミ | Shibata Mami

所属機関・部署：
職名：助教

研究分野 (2件)：ゲノム生物学 , 遺伝学

競争的資金等の研究課題 (2件)：

論文 (7件)：

Eisuke Ichise, Tomohiro Chiyonobu, Mitsuru Ishikawa, Yasuyoshi Tanaka, Mami Shibata, Takenori Tozawa, Yoshihiro Taura, Satoshi Yamashita, Michiko Yoshida, Masafumi Morimoto, et al. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. Human Molecular Genetics. 2021. 30. 14. 1337-1348
Mami Shibata, Atsushi Ishii, Ayako Goto, Shinichi Hirose. Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy. Journal of Human Genetics. 2020. 66. 6. 569-578
Shinichi Hirose, Yasuyoshi Tanaka, Mami Shibata, Yuichi Kimura, Mitsuru Ishikawa, Norimichi Higurashi, Toshiyuki Yamamoto, Eisuke Ichise, Tomohiro Chiyonobu, Atsushi Ishii. Application of induced pluripotent stem cells in epilepsy. Molecular and Cellular Neuroscience. 2020. 108. 103535-103535
Ayako Goto, Atsushi Ishii, Mami Shibata, Yukiko Ihara, Edward C. Cooper, Shinichi Hirose. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia. 2019. 60. 9. 1870-1880
Akihisa Okumura, Koichi Maruyama, Mami Shibata, Hirokazu Kurahashi, Atsushi Ishii, Shingo Numoto, Shinichi Hirose, Tomoko Kawai, Manami Iso, Shinsuke Kataoka, et al. A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features. Brain & development. 2018. 40. 10. 926-930

学位 (1件)：

所属学会 (1件)：

日本人類遺伝学会

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柴田 磨己