Koh Kishin

Research field (1)： Neurology

Research theme for competitive and other funds (3)：

2019 - 2022 遺伝性痙性対麻痺の新規原因遺伝子の同定と病態機序の解明
2018 - 2021 Identification of causative genes for hereditary spastic paraplegia
2017 - 2019 Identification of novel gene of spinocerebellar ataxia for new target of therapy.

Papers (49)：

Hiroya Naruse, Hiroyuki Ishiura, Kayoko Esaki, Jun Mitsui, Wataru Satake, Peter Greimel, Nanoka Shingai, Yuka Machino, Yasumasa Kokubo, Hirotoshi Hamaguchi, et al. SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis. Annals of clinical and translational neurology. 2024. 11. 4. 946-957
Yuri Mizuno, Taira Uehara, Yuri Nakamura, Toshiki Okadome, Takahiko Mukaino, Kishin Koh, Yoshihisa Takiyama, Takashi Kanbayashi, Noriko Isobe, Jun-Ichi Kira, et al. A case of monozygotic twins with hereditary spastic paraplegia type 4 and epilepsy, of whom only one developed narcolepsy type 1. Journal of sleep research. 2023. e14102
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Jun Takei, Mika Takeuchi, Yu Hiramatsu, Fumitaka Shimizu, Masaya Kubota, et al. Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. Annals of clinical and translational neurology. 2022. 9. 7. 902-911
嶋崎晴雄, 小川朋子, 高紀信, 山本洋一, 津川潤, 村上千恵子, 本多正幸, 黒川克朗, 岩永育貴, 植田光晴, et al. 当施設の遺伝子解析にてSACS遺伝子のバリアントが同定された日本人症例の臨床的特徴. 臨床神経学. 2021. 61. Suppl. S257-S257
嶋崎晴雄, 小川朋子, 高紀信, 山本洋一, 津川潤, 村上千恵子, 本多正幸, 黒川克朗, 岩永育貴, 植田光晴, et al. 当施設の遺伝子解析にてSACS遺伝子のバリアントが同定された日本人症例の臨床的特徴. 臨床神経学. 2021. 61. Suppl. S257-S257

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MISC (69)：

Haitian Nan, Takahiro Natori, Yuta Ichinose, Kishin Koh, Yoshihisa Takiyama. Conjugal multiple system atrophy: Be cautious when calculating numbers of probability. Parkinsonism and Related Disorders. 2020. 77. 178-179
Haitian Nan, Takahiro Natori, Yuta Ichinose, Kishin Koh, Yoshihisa Takiyama. Conjugal multiple system atrophy: Computing chance or investigating real patients?. Parkinsonism and Related Disorders. 2020. 75. 122-123
Kazumasa Shindo, Mai Tsuchiya, Kishin Koh, Takamura Nagasaka, Yoshihisa Takiyama. Paraneoplastic sensorimotor neuropathy associated with mediastinal germ cell tumor: favorable outcome after high-dose intravenous immunoglobulin therapy. Neurological Sciences. 2020. 41. 3. 723-725
一瀬佑太, 南海天, 高紀信, 田中真生, 石浦浩之, 三井純, 下邨華菜, 森本昌史, 濱田駿, 大塚稔久, et al. 遺伝性痙性対麻痺の新規原因遺伝子候補の抽出. 臨床神経学. 2019. 59. Suppl. S257-S257
Mai Tsuchiya, Kishin Koh, Aki Ishida, Yuta Ichinose, Kazumasa Shindo, Yoshihisa Takiyama. A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment. Journal of the Neurological Sciences. 2019. 397. 114-116

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