日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel proteolytic post-translational modification in voltage-gated potassium channel KCNQ2

电压门控钾通道KCNQ2中一种新型的蛋白水解翻译后修饰

Kimura, Yuichi; Uchiyama, Hidehiko; Masuda, Koji; Hirose, Shinichi

Downregulation of NEAT1 due to loss of TDP-43 function exacerbates motor neuron degeneration in amyotrophic lateral sclerosis

由于TDP-43功能丧失导致的NEAT1下调会加剧肌萎缩侧索硬化症中的运动神经元退化

Yu Kawakami,Yohei Iguchi,Jiayi Li,Yoshinobu Amakusa,Takashi Yoshimura,Ryo Chikuchi,Satoshi Yokoi,Madoka Iida,Yuichi Riku,Yasushi Iwasaki,Tetsuro Hirose,Shinichi Nakagawa,Masahisa Katsuno

Ion Channel-Targeting Toxins: Structural Mechanisms of Activation, Inhibition, and Therapeutic Potential

离子通道靶向毒素:激活、抑制的结构机制及治疗潜力

Aoki-Shioi, Narumi; Nomura, Shuhei; Tanaka, Yasuyoshi; Hirose, Shinichi

SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications

SCN1A功能获得性突变在Dravet综合征中的作用:对临床表型和治疗意义的深入探讨

Kobayashi Takahashi, Yoko; Tabata, Kenshiro; Baba, Shimpei; Takeshita, Eri; Sumitomo, Noriko; Shimizu-Motohashi, Yuko; Saito, Takashi; Nakagawa, Eiji; Ishii, Atsushi; Hirose, Shinichi; Kato, Mitsuhiro; Matsumoto, Naomichi; Komaki, Hirofumi; Inoue, Ken

Reply to Letter to the Editor regarding the article "SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications"

回复编辑来信,内容关于文章“SCN1A 功能获得性效应在 Dravet 综合征中的作用:对临床表型和治疗意义的见解”

Kobayashi Takahashi, Yoko; Tabata, Kenshiro; Baba, Shimpei; Takeshita, Eri; Sumitomo, Noriko; Shimizu-Motohashi, Yuko; Saito, Takashi; Nakagawa, Eiji; Ishii, Atsushi; Hirose, Shinichi; Kato, Mitsuhiro; Matsumoto, Naomichi; Komaki, Hirofumi; Inoue, Ken

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

日本新生儿黏多糖贮积症II型筛查中检测到的艾杜糖醛酸-2-硫酸酯酶基因变异的频率

Hattori, Yusuke; Sawada, Takaaki; Kido, Jun; Sugawara, Keishin; Yoshida, Shinichiro; Matsumoto, Shirou; Inoue, Takahito; Hirose, Shinichi; Nakamura, Kimitoshi

An age-stratified cross-sectional study of antidiabetic and non-antidiabetic drugs prescribed to Japanese outpatients with diabetes

一项按年龄分层的横断面研究,调查了日本糖尿病门诊患者使用的降糖药和非降糖药。

Kuribayashi, Rena; Hasebe, Shiori; Ishida, Daisuke; Hirose, Shinichi; Mimori, Seisuke; Takizawa, Tsuyoshi; Yamasaki, Yuki; Suzuki, Satoko; Kanzaki, Tetsuto

lncRNA Neat1 regulates neuronal dysfunction post-sepsis via stabilization of hemoglobin subunit beta

lncRNA Neat1 通过稳定血红蛋白亚基 β 来调节脓毒症后的神经元功能障碍

Yan Wu, Pengfei Li, Liu Liu, Andrew J Goodwin, Perry V Halushka, Tetsuro Hirose, Shinichi Nakagawa, Jiliang Zhou, Meng Liu, Hongkuan Fan

Newborn screening for Gaucher disease in Japan

日本新生儿戈谢病筛查

Sawada, Takaaki; Kido, Jun; Sugawara, Keishin; Yoshida, Shinichiro; Matsumoto, Shirou; Shimazu, Tomoyuki; Matsushita, Yuki; Inoue, Takahito; Hirose, Shinichi; Endo, Fumio; Nakamura, Kimitoshi

Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

STXBP1基因突变与早发性韦斯特综合征相关:病例报告及文献综述

Takeda, Kanako; Miyamoto, Yusaku; Yamamoto, Hisako; Iwasaki, Toshiyuki; Sumitomo, Noriko; Takeshita, Eri; Ishii, Atsushi; Hirose, Shinichi; Shimizu, Naoki