Retrospective Echocardiographic Analysis of West Syndrome During Adrenocorticotropic Hormone Therapy Autor Yoji Ikuta, Yoji Ikuta, Masaru Miura, Tomohide Goto, Tomohide Goto, Sahoko Miyama

Získat plný text

Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan Autor Azusa Ikeda, Tatsuro Kumaki, Yu Tsuyusaki, Megumi Tsuji, Yumi Enomoto, Atsushi Fujita, Hirotomo Saitsu, Naomichi Matsumoto, Kenji Kurosawa, Tomohide Goto

Získat plný text

Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles Autor Yuri Yamashita, Satoshi Nakada, Kyoko Nakamura, Hidetoshi Sakurai, Kinji Ohno, Tomohide Goto, Yo Mabuchi, Chihiro Akazawa, Nobutaka Hattori, Eri Arikawa-Hirasawa

Získat plný text

Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series Autor Shimpei Baba, Tohru Okanishi, Yoichiro Homma, Takeshi Yoshida, Tomohide Goto, Tatsuya Fukasawa, Satoru Kobayashi, Atsushi Kamei, Yuji Fujii, Naomi Hino‐Fukuyo, Keitaro Yamada, Atsuro Daida, Hisashi Kawawaki, Hideki Hoshino, Hitoshi Sejima, Yusuke Ishida, Tetsuya Okazaki, Takehiko Inui, Sotaro Kanai, Hirotaka Motoi, Shinji Itamura, Mitsuyo Nishimura, Hideo Enoki, Ayataka Fujimoto

Získat plný text

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy Autor Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, Takeshi Mizuguchi, Satomi Mitsuhashi, Yukitoshi Takahashi, Nobuhiko Okamoto, Hitoshi Osaka, Kazuyuki Nakamura, Jun Tohyama, Kazuhiro Haginoya, Saoko Takeshita, Ichiro Kuki, Tohru Okanishi, Tomohide Goto, Masayuki Sasaki, Yasunari Sakai, Noriko Miyake, Satoko Miyatake, Naomi Tsuchida, Kazuhiro Iwama, Gaku Minase, Futoshi Sekiguchi, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Yuri Uchiyama, Kohei Hamanaka, Chihiro Ohba, Toshiyuki Itai, Hiromi Aoi, Ken Saida, Tomohiro Sakaguchi, Kouhei Den, Rina Takahashi, Hiroko Ikeda, Tokito Yamaguchi, Kazuki Tsukamoto, Shinsaku Yoshitomi, Taikan Oboshi, Katsumi Imai, Tomokazu Kimizu, Yu Kobayashi, Masaya Kubota, Hirofumi Kashii, Shimpei Baba, Mizue Iai, Ryutaro Kira, Munetsugu Hara, Masayasu Ohta, Yohane Miyata, Rie Miyata, Jun-ichi Takanashi, Jun Matsui, Kenji Yokochi, Masayuki Shimono, Masano Amamoto, Rumiko Takayama, Shinichi Hirabayashi, Kaori Aiba, Hiroshi Matsumoto, Shin Nabatame, Takashi Shiihara, Mitsuhiro Kato, Naomichi Matsumoto

Získat plný text