A 7‐year‐old female with hypotonia and scoliosis

por Saito, Yoshihiko, Baba, Shimpei, Komaki, Hirofumi, Nishino, Ichizo
Publicado 2022

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)

por Hatakeyama, Hideyuki, Katayama, Ayako, Komaki, Hirofumi, Nishino, Ichizo, Goto, Yu-ichi
Publicado 2015

Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis

por Shimizu-Motohashi, Yuko, Murakami, Terumi, Kimura, En, Komaki, Hirofumi, Watanabe, Norio
Publicado 2018

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

Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches

por Shimizu-Motohashi, Yuko, Komaki, Hirofumi, Motohashi, Norio, Takeda, Shin’ichi, Yokota, Toshifumi, Aoki, Yoshitsugu
Publicado 2019

Left Ventricular End-Diastolic Diameter and Cardiac Mortality in Duchenne Muscular Dystrophy

por Segawa, Kazuhiko, Sugawara, Norio, Maruo, Kazushi, Kimura, Koichi, Komaki, Hirofumi, Takahashi, Yuji, Sasaki, Masayuki
Publicado 2020

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy

por Okubo, Mariko, Noguchi, Satoru, Hayashi, Shinichiro, Nakamura, Harumasa, Komaki, Hirofumi, Matsuo, Masafumi, Nishino, Ichizo
Publicado 2020

Trends in steroid therapy for Duchenne muscular dystrophy in Japan

por Takeuchi, Fumi, Komaki, Hirofumi, Nakamura, Harumasa, Yonemoto, Naohiro, Kashiwabara, Kousuke, Kimura, En, Takeda, Shin'ichi
Publicado 2016

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy

por Ishiyama, Akihiko, Iida, Aritoshi, Hayashi, Shinichiro, Komaki, Hirofumi, Sasaki, Masayuki, Nonaka, Ikuya, Noguchi, Satoru, Nishino, Ichizo
Publicado 2018

Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C(2)C(12) Myocytes and mdx Mice

por Matsuzaka, Yasunari, Tanihata, Jun, Komaki, Hirofumi, Ishiyama, Akihiko, Oya, Yasushi, Rüegg, Urs, Takeda, Shin-ichi, Hashido, Kazuo
Publicado 2016

A nationwide survey on Marinesco-Sjögren syndrome in Japan

por Goto, Masahide, Okada, Mari, Komaki, Hirofumi, Sugai, Kenji, Sasaki, Masayuki, Noguchi, Satoru, Nonaka, Ikuya, Nishino, Ichizo, Hayashi, Yukiko K
Publicado 2014

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

Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy

por Segawa, Kazuhiko, Komaki, Hirofumi, Mori-Yoshimura, Madoka, Oya, Yasushi, Kimura, Koichi, Tachimori, Hisateru, Kato, Naohiro, Sasaki, Masayuki, Takahashi, Yuji
Publicado 2017

NS-065/NCNP-01: An Antisense Oligonucleotide for Potential Treatment of Exon 53 Skipping in Duchenne Muscular Dystrophy

por Watanabe, Naoki, Nagata, Tetsuya, Satou, Youhei, Masuda, Satoru, Saito, Takashi, Kitagawa, Hidetoshi, Komaki, Hirofumi, Takagaki, Kazuchika, Takeda, Shin’ichi
Publicado 2018

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

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

por Negishi, Yutaka, Ieda, Daisuke, Hori, Ikumi, Nozaki, Yasuyuki, Yamagata, Takanori, Komaki, Hirofumi, Tohyama, Jun, Nagasaki, Keisuke, Tada, Hiroko, Saitoh, Shinji
Publicado 2019

Long-term Observation in Patients with Duchenne Muscular Dystrophy with Early Introduction of a Standing Program Using Knee–ankle–foot Orthoses

por Fujimoto, Akiko, Mizuno, Katsuhiro, Iwata, Yasuyuki, Yajima, Hiroyuki, Nishida, Daisuke, Komaki, Hirofumi, Ishiyama, Akihiko, Mori-yoshimura, Madoka, Tachimori, Hisateru, Kobayashi, Yoko
Publicado 2023

Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan

por Okubo, Mariko, Goto, Kanako, Komaki, Hirofumi, Nakamura, Harumasa, Mori-Yoshimura, Madoka, Hayashi, Yukiko K., Mitsuhashi, Satomi, Noguchi, Satoru, Kimura, En, Nishino, Ichizo
Publicado 2017

Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)

por Nakamura, Harumasa, Kimura, En, Mori-Yoshimura, Madoka, Komaki, Hirofumi, Matsuda, Yu, Goto, Kanako, Hayashi, Yukiko K, Nishino, Ichizo, Takeda, Shin‘ichi, Kawai, Mitsuru
Publicado 2013

A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells

por Zhang, Shaochuan, Ohkawara, Bisei, Ito, Mikako, Huang, Zhizhou, Zhao, Fei, Nakata, Tomohiko, Takeuchi, Tomoya, Sakurai, Hidetoshi, Komaki, Hirofumi, Kamon, Masayoshi, Araki, Toshiyuki, Ohno, Kinji
Publicado 2022