研究成果

[雑誌論文] Kv11 (ether-a-go-go-related gene) voltage-dependent K + channels promote resonance and oscillation of subthreshold membrane potentials

Matsuoka Toshinori, Yamasaki Miwako, Abe Manabu, Matsuda Yukiko, Morino Hiroyuki, Kawakami Hideshi, Sakimura Kenji, Watanabe Masahiko, Hashimoto Kouichi 2021

[学会発表] Transcriptomic analysis using model mice of spinocerebellar ataxia 42

Matsuda Y, Morino H, Sotomaru Y, Kurashige T, Maruyama H, Kawakami H. 2021

[雑誌論文] Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

Kume Kodai、Morino Hiroyuki、Miyamoto Ryosuke、Matsuda Yukiko、Ohsawa Ryosuke、Kanaya Yuhei、Tada Yui、Kurashige Takashi、Kawakami Hideshi 2020

[雑誌論文] Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia

Tada Yui、Kume Kodai、Matsuda Yukiko、Kurashige Takashi、Kanaya Yuhei、Ohsawa Ryosuke、Morino Hiroyuki、Tabu Hayato、Kaneko Satoshi、Suenaga Toshihiko、Kakizuka Akira、Kawakami Hideshi 2020

[雑誌論文] Retinitis pigmentosa prior to familial ALS caused by a homozygous cilia and flagella-associated protein 410 mutation

Kurashige Takashi、Morino Hiroyuki、Matsuda Yukiko、Mukai Tomoya、Murao Tomomi、Toko Megumi、Kume Kodai、Ohsawa Ryosuke、Torii Tsuyoshi、Tokinobu Hiroshi、Maruyama Hirofumi、Kawakami Hideshi 2020

[雑誌論文] Optineurin regulates osteoblastogenesis through STAT1

Mizuno Noriyoshi、Iwata Tomoyuki、Ohsawa Ryosuke、Ouhara Kazuhisa、Matsuda Shinji、Kajiya Mikihito、Matsuda Yukiko、Kume Kodai、Tada Yui、Morino Hiroyuki、Yoshimoto Tetsuya、Ueki Yasuyoshi、Mihara Keichiro、Sotomaru Yusuke 2020

[雑誌論文] Aggressive periodontitis and NOD2 variants

Mizuno Noriyoshi, Kume Kodai, Nagatani Yukiko, Matsuda Shinji, Iwata Tomoyuki, Ouhara Kazuhisa, Kajiya Mikihito, Takeda Katsuhiro, Matsuda Yukiko, Tada Yui, Ohsawa Ryosuke, Morino Hiroyuki, Mihara Keichiro, Fujita Tsuyoshi, Kawaguchi Hiroyuki, Shiba Hideki, Kawakami Hideshi, Kurihara Hidemi 2020

[雑誌論文] The first Japanese case of primary familial brain calcification caused by an MYORG variant

Kume Kodai, Takata Tadayuki, Morino Hiroyuki, Matsuda Yukiko, Ohsawa Ryosuke, Tada Yui, Kurashige Takashi, Kawakami Hideshi 2020

[雑誌論文] Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

Matsuda Yukiko、Morino Hiroyuki、Miyamoto Ryosuke、Kurashige Takashi、Kume Kodai、Mizuno Noriyoshi、Kanaya Yuhei、Tada Yui、Ohsawa Ryosuke、Yokota Kazunori、Shimozawa Nobuyuki、Maruyama Hirofumi、Kawakami Hideshi 2020

[学会発表] Biochemical analysis of middle-age-onset SCAR caused by a biallelic mutation of HSD17B4

Matsuda Y, Morino H, Kurashige T, Miyamoto R, Maruyama H, Kawakami H 2020

[学会発表] Degeneration of cerebellar Purkinje cells in the knock-in mice harboring SCA42 mutation

Matsuda Y, Morino H, Kurashige T, Nakayama H, Matsuoka T, Sotomaru Y, Hashimoto K, Kawakami H 2019

[雑誌論文] C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Kume Kodai、Morino Hiroyuki、Komure Osamu、Matsuda Yukiko、Ohsawa Ryosuke、Kurashige Takashi、Kanaya Yuhei、Tada Yui、Kawakami Hideshi 2019

[学会発表] Homozygous mutation in dehydrogenase domain of DBP cause slowly progressive spinocerebellar ataxia

Matsuda Y, Morino H, Miyamoto R, Kawakami H 2019