Kishin Koh

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 9

Top Topics

Top Venues

Journal of human genetics

Molecular genetics & genomic medicine

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Yuri Mizuno, Taira Uehara, Yuri Nakamura, Toshiki Okadome, Takahiko Mukaino, Kishin Koh, Yoshihisa Takiyama, Takashi Kanbayashi, Noriko Isobe, Jun-Ichi Kira, Hiroyuki Murai, Hiroshi Shigeto
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)
Takanori Hata, Haitian Nan, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
A clinical and genetic study of SPG31 in Japan. Journal of human genetics 67 (7) (2022)
Masahiro Ando, Yujiro Higuchi, Junhui Yuan, Akiko Yoshimura, Takaki Taniguchi, Jun Takei, Mika Takeuchi, Yu Hiramatsu, Fumitaka Shimizu, Masaya Kubota, Akari Takeshima, Takehiro Ueda, Kishin Koh, Utako Nagaoka, Takashi Tokashiki, Setsu Sawai, Yusuke Sakiyama, Akihiro Hashiguchi, Ryota Sato, Takashi Kanda, Yuji Okamoto, Hiroshi Takashima
Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. Annals of clinical and translational neurology 9 (7) (2022)
Kishin Koh, Haruo Shimazaki, Matsuo Ogawa, Yoshihisa Takiyama
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia. Human genome variation 9 (1) (2022)
Haitian Nan, Ryusuke Takaki, Takanori Hata, Kishin Koh, Yoshihisa Takiyama
A Nepalese family with an REEP2 mutation: clinical and genetic study. Journal of human genetics 66 (7) (2021)
Kishin Koh, Ryusuke Takaki, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama
SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report. BMC neurology 21 (1) (2021)
Kishin Koh, Mai Tsuchiya, Hiroyuki Ishiura, Haruo Shimazaki, Takeshi Nakamura, Hideo Hara, Kohei Suzuyama, Makio Takahashi, Shoji Tsuji, Yoshihisa Takiyama, null null
Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia. Journal of human genetics (2021)
Yasuko Odake, Kishin Koh, Yoshihisa Takiyama, Hiroyuki Ishiura, Shoji Tsuji, Masahito Yamada, Mitsuhiro Yoshita
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia. Neurology. Genetics 6 (5) (2020)
Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
VPS13D-related disorders presenting as a pure and complicated form of hereditary spastic paraplegia. Molecular genetics & genomic medicine 8 (3) (2019)