Kawarai Toshitaka

Profile Information

Affiliation: The University of Tokushima

Degree: 医学博士(広島大学)

Researcher number: 50614137
J-GLOBAL ID: 201401020685586109

Research Interests

Research Areas

Life sciences / Neurology /

Research History

Nov, 2005

Clinical fellow at the Hyogo Brain and Heart Centre at Himeji

Papers

132

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.

Toshitaka Kawarai, Hiroki Yamazaki, Ryosuke Miyamoto, Naoko Takamatsu, Atsuko Mori, Yusuke Osaki, Antonio Orlacchio, Hiroyuki Nodera, Akihiro Hashiguchi, Yujiro Higuchi, Akiko Yoshimura, Hiroshi Takashima, Ryuji Kaji

Neuromuscular Disorders Mar 28, 2019 Peer-reviewed
is a therapeutic target in SPG4-related hereditary spastic paraplegia human neurons.

Fumiko Nakazeki, Itaru Tsuge, Takahiro Horie, Keiko Imamura, Kayoko Tsukita, Akitsu Hotta, Osamu Baba, Yasuhide Kuwabara, Tomohiro Nishino, Tetsushi Nakao, Masataka Nishiga, Hitoo Nishi, Yasuhiro Nakashima, Yuya Ide, Satoshi Koyama, Masahiro Kimura, Shuhei Tsuji, Motoko Naitoh, Shigehiko Suzuki, Yuishin Izumi, Toshitaka Kawarai, Ryuji Kaji, Takeshi Kimura, Haruhisa Inoue, Koh Ono

Clinical Science Vol.133(No.4) 583 - 595 Feb 22, 2019 Peer-reviewed
Phenotype variability and allelic heterogeneity in KMT2B-Associated disease.

Toshitaka Kawarai, Ryosuke Miyamoto, Eiji Nakagawa, Reiko Koichihara, Takashi Sakamoto, Hideo Mure, Ryoma Morigaki, Hidetaka Koizumi, Ryosuke Oki, Celeste Montecchiani, Carlo Caltagirone, Antonio Orlacchio, Ayako Hattori, Hideaki Mashimo, Yuishin Izumi, Takahiro Mezaki, Satoko Kumada, Makoto Taniguchi, Fusako Yokochi, Shinji Saitoh, Satoshi Goto, Ryuji Kaji

Parkinsonism & related disorders 52 55 - 61 Jul, 2018 Peer-reviewed
Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation

T. Konno, K. Yoshida, I. Mizuta, T. Mizuno, T. Kawarai, M. Tada, H. Nozaki, S. I. Ikeda, O. Onodera, Z. K. Wszolek, T. Ikeuchi

European Journal of Neurology 25(1) 142 - 147 Jan 1, 2018 Peer-reviewed
Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio, Ryuji Kaji

Parkinsonism and Related Disorders 46 79 - 83 Jan 1, 2018 Peer-reviewed

Misc.

若年発症全身性捻転ジストニアにおけるゾルピデム内服治療の有効性

Yoshimichi Miyazaki, 宮本亮介, 小泉英貴, Toshitaka Kawarai, Ryuji Kaji

ジストニアの分子病態解明と新規治療法開発に関する研究班(平成26年度) 29 - 30 2015
新規運動ニューロン病遺伝子TFGの機能解析

Toshitaka Kawarai

ブレインサイエンス・レビュー2015 79 - 90 2015 Invited
ALS患者におけるTFG変異のスクリーニングと機能解析

Toshitaka Kawarai

平成25年度厚生労働科学研究費補助金(難治性疾患克服研究事業)神経変性疾患に関する調査研究班 (分担)研究報告書 Mar, 2014 Invited
【神経症候群(第2版)-その他の神経疾患を含めて-】変性疾患錐体外路系疾患不随意運動を主とする疾患ジストニア症候群一次性遺伝性ジストニア発作性ジストニア DYT9ジストニア(発作性舞踏アテトーシス・痙性対麻痺:CSE)，DYT18ジストニア(発作性運動誘発性ジスキネジア:PED)

Toshitaka Kawarai, 武内俊明, 宮本亮介, Yoshimichi Miyazaki, Ryuji Kaji

Nihon Rinsho. Japanese Journal of Clinical Medicine 255 - 257 2014
Dystonia genes and elucidation of their roles in dystonia pathogenesis

Toshitaka Kawarai, 宮本亮介, 村上永尚, 小泉英貴, 小泉英貴, Wataru Sako, 向井洋平, Kenta Sato, 松本真一, Takashi Sakamoto, Yuishin Izumi, Ryuji Kaji

Clinical Neurology Vol.53(No.6) 419 - 429 Jun, 2013 Invited

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