A phase I study of TAS‐205 in patients with Duchenne muscular dystrophy

por Takeshita, Eri, Komaki, Hirofumi, Shimizu‐Motohashi, Yuko, Ishiyama, Akihiko, Sasaki, Masayuki, Takeda, Shin'ichi
Publicado 2018

Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome

por Takeshita, Eri, Iida, Aritoshi, Abe-Hatano, Chihiro, Nakagawa, Eiji, Sasaki, Masayuki, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

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

por Takeda, Kanako, Miyamoto, Yusaku, Yamamoto, Hisako, Iwasaki, Toshiyuki, Sumitomo, Noriko, Takeshita, Eri, Ishii, Atsushi, Hirose, Shinichi, Shimizu, Naoki
Publicado 2022

Clinical trial network for the promotion of clinical research for rare diseases in Japan: muscular dystrophy clinical trial network

por Shimizu, Reiko, Ogata, Katsuhisa, Tamaura, Akemi, Kimura, En, Ohata, Maki, Takeshita, Eri, Nakamura, Harumasa, Takeda, Shin’ichi, Komaki, Hirofumi
Publicado 2016

Childhood‐onset cerebellar ataxia in Japan: A questionnaire‐based survey

por Ono, Hiroya, Shimizu‐Motohashi, Yuko, Maruo, Kazushi, Takeshita, Eri, Ishiyama, Akihiko, Saito, Takashi, Komaki, Hirofumi, Nakagawa, Eiji, Sasaki, Masayuki
Publicado 2019

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

por Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Publicado 2020

A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation

por Iida, Aritoshi, Takeshita, Eri, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Kurosawa, Kenji, Inoue, Ken, Goto, Yu-ichi
Publicado 2018

Effect of additional surgery after noncurative endoscopic submucosal dissection for early gastric cancer

por Yamanouchi, Kohei, Ogata, Shinichi, Sakata, Yasuhisa, Tsuruoka, Nanae, Shimoda, Ryo, Nakayama, Atsushi, Akutagawa, Takashi, Shirai, Shimpei, Takeshita, Eri, Yamamoto, Koji, Fujimoto, Kazuma, Iwakiri, Ryuichi
Publicado 2016

Higher frequency of upper gastrointestinal symptoms in healthy young Japanese females compared to males and older generations

por Kawachi, Kojiro, Sakata, Yasuhisa, Hara, Megumi, Takeshita, Eri, Kawakubo, Hiroharu, Yamaguchi, Daisuke, Okamoto, Norihiro, Shimoda, Ryo, Iwakiri, Ryuichi, Tsuruoka, Nanae, Kusano, Motoyasu, Fujimoto, Kazuma
Publicado 2017

Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study

por Komaki, Hirofumi, Takeshima, Yasuhiro, Matsumura, Tsuyoshi, Ozasa, Shiro, Funato, Michinori, Takeshita, Eri, Iwata, Yasuyuki, Yajima, Hiroyuki, Egawa, Yoichi, Toramoto, Takuya, Tajima, Masaya, Takeda, Shinichi
Publicado 2020

Systemic administration of the antisense oligonucleotide NS‐089/NCNP‐02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinic...

por Ishizuka, Takami, Komaki, Hirofumi, Asahina, Yasuko, Nakamura, Harumasa, Motohashi, Norio, Takeshita, Eri, Shimizu‐Motohashi, Yuko, Ishiyama, Akihiko, Yonee, Chihiro, Maruyama, Shinsuke, Hida, Eisuke, Aoki, Yoshitsugu
Publicado 2023

CO(2)-sensitive tRNA modification associated with human mitochondrial disease

por Lin, Huan, Miyauchi, Kenjyo, Harada, Tai, Okita, Ryo, Takeshita, Eri, Komaki, Hirofumi, Fujioka, Kaoru, Yagasaki, Hideki, Goto, Yu-ichi, Yanaka, Kaori, Nakagawa, Shinichi, Sakaguchi, Yuriko, Suzuki, Tsutomu
Publicado 2018

Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride

por Takizawa, Hotake, Hara, Yuko, Mizobe, Yoshitaka, Ohno, Taisuke, Suzuki, Sadafumi, Inoue, Ken, Takeshita, Eri, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Hoshino, Mikio, Komaki, Hirofumi, Takeda, Shin’ichi, Aoki, Yoshitsugu
Publicado 2019

A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature

por Iida, Aritoshi, Takano, Kyoko, Takeshita, Eri, Abe-Hatano, Chihiro, Hirabayashi, Shinichi, Inaba, Yuji, Kosugi, Shunichi, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Nakagawa, Eiji, Inoue, Ken, Goto, Yu-ichi
Publicado 2019

Publisher Correction: Modelling Duchenne muscular dystrophy in MYOD1-converted urine-derived cells treated with 3-deazaneplanocin A hydrochloride

por Takizawa, Hotake, Hara, Yuko, Mizobe, Yoshitaka, Ohno, Taisuke, Suzuki, Sadafumi, Inoue, Ken, Takeshita, Eri, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Hoshino, Mikio, Komaki, Hirofumi, Takeda, Shin’ichi, Aoki, Yoshitsugu
Publicado 2020

Helicobacter pylori infection status had no influence on upper gastrointestinal symptoms: a cross-sectional analysis of 3,005 Japanese subjects without upper gastrointestinal lesio...

por Yoshioka, Tomomi, Takeshita, Eri, Sakata, Yasuhisa, Hara, Megumi, Akutagawa, Kayo, Sakata, Natsuko, Endo, Hiroyoshi, Ohyama, Takashi, Matsunaga, Keiji, Tanaka, Yuichiro, Shirai, Shinpei, Ito, Yoichiro, Tsuruoka, Nanae, Iwakiri, Ryuichi, Kusano, Motoyasu, Fujimoto, Kazuma
Publicado 2017

Colorectal endoscopic mucosal resection with submucosal injection of epinephrine versus hypertonic saline in patients taking antithrombotic agents: propensity-score-matching analys...

por Yamaguchi, Daisuke, Yoshida, Hisako, Ikeda, Kei, Takeuchi, Yuki, Yamashita, Shota, Jubashi, Amane, Yukimoto, Takahiro, Takeshita, Eri, Yoshioka, Wataru, Fukuda, Hiroko, Tominaga, Naoyuki, Tsuruoka, Nanae, Morisaki, Tomohito, Ario, Keisuke, Tsunada, Seiji, Fujimoto, Kazuma
Publicado 2019

Alteration of the anatomical covariance network after corpus callosotomy in pediatric intractable epilepsy

por Ueda, Riyo, Matsuda, Hiroshi, Sato, Noriko, Iwasaki, Masaki, Sone, Daichi, Takeshita, Eri, Shimizu-Motohashi, Yuko, Ishiyama, Akihiko, Saito, Takashi, Komaki, Hirofumi, Nakagawa, Eiji, Sugai, Kenji, Sasaki, Masayuki, Kaga, Yoshimi, Takeichi, Hiroshige, Inagaki, Masumi
Publicado 2019

Lower Rebleeding Rate after Endoscopic Band Ligation than Endoscopic Clipping of the Same Colonic Diverticular Hemorrhagic Lesion: A Historical Multicenter Trial in Saga, Japan

por Okamoto, Norihiro, Tominaga, Naoyuki, Sakata, Yasuhisa, Hara, Megumi, Yukimoto, Takahiro, Tsuruta, Sanae, Yamanouchi, Kohei, Takeshita, Eri, Matsunaga, Keiji, Ito, Yoichiro, Miyahara, Koichi, Noda, Takahiro, Yamaguchi, Daisuke, Tsunada, Seiji, Tanaka, Yuichiro, Kawakubo, Hiroharu, Tsuruoka, Nanae, Shimoda, Ryo, Ogata, Shinichi, Fujimoto, Kazuma
Publicado 2018

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

por Liang, Wen-Chen, Uruha, Akinori, Suzuki, Shigeaki, Murakami, Nobuyuki, Takeshita, Eri, Chen, Wan-Zi, Jong, Yuh-Jyh, Endo, Yukari, Komaki, Hirofumi, Fujii, Tatsuya, Kawano, Yutaka, Mori-Yoshimura, Madoka, Oya, Yasushi, Xi, Jianying, Zhu, Wenhua, Zhao, Chongbo, Watanabe, Yurika, Ikemoto, Keisuke, Nishikawa, Atsuko, Hamanaka, Kohei, Mitsuhashi, Satomi, Suzuki, Norihiro, Nishino, Ichizo
Publicado 2017