检索结果 - Akihiko Ishiyama

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  1. 1
    Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice

    Characterization and Functional Analysis of Extracellular Vesicles and Muscle-Abundant miRNAs (miR-1, miR-133a, and miR-206) in C2C12 Myocytes and mdx Mice 由 Yasunari Matsuzaka, Jun Tanihata, Hirofumi Komaki, Akihiko Ishiyama, Yasushi Oya, Urs T. Rüegg, Shin’ichi Takeda, Kazuo Hashido

    出版 2016
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  2. 2
    Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy

    Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy 由 Hirofumi Komaki, Eri Takeshita, Katsuhiko Kunitake, Takami Ishizuka, Yuko Shimizu‐Motohashi, Akihiko Ishiyama, Masayuki Sasaki, Chihiro Yonee, Shinsuke Maruyama, Eisuke Hida, Yoshitsugu Aoki

    出版 2025
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  3. 3
    De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance

    De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance 由 Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2015
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  4. 4
    Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome

    Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome 由 Termglinchan, Thanes, Hisamatsu, Seito, Ohmori, Junko, Suzumura, Hiroshi, Sumitomo, Noriko, Imataka, George, Arisaka, Osamu, Murakami, Nobuyuki, Minami, Narihiro, Akihiko, Ishiyama, Sasaki, Masayuki, Goto, Yuichi, Noguchi, Satoru, Nonaka, Ikuya, Mitsuhashi, Satomi, Nishino, Ichizo

    出版 2016
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  5. 5
    De novo <i>GABRA1</i> mutations in Ohtahara and West syndromes

    De novo <i>GABRA1</i> mutations in Ohtahara and West syndromes 由 Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato, Toshiyuki Maeda, Kaoru Araki, Daisuke Tajima, Muneaki Matsuo, Naomi Hino‐Fukuyo, Kosuke Kohashi, Akihiko Ishiyama, Saoko Takeshita, Hirotaka Motoi, Taro Kitamura, Atsuo Kikuchi, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Masayuki Sasaki, Shigeo Kure, Kazuhiro Haginoya, Hirotomo Saitsu, Naomichi Matsumoto

    出版 2016
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  6. 6
    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy

    International retrospective natural history study of <i>LMNA</i>-related congenital muscular dystrophy 由 Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato, Sandra Donkervoort, Hui Xiong, A. Nascimento, Lorenzo Maggi, Anna Sárközy, Soledad Monges, Marta Bértoli, Hirofumi Komaki, M. Mayer, Eugenio Mercuri, Edmar Zanoteli, Claudia Castiglioni, Chiara Marini‐Bettolo, Adele D’Amico, Nicolas Deconinck, Isabelle Desguerre, Ricardo Erazo-Torricelli, Juliana Gurgel‐Giannetti, Akihiko Ishiyama, Karin Kleinsteuber, Emmanuelle Lagrue, Vincent Laugel, Sandra Mercier, Sonia Messina, Luisa Politano, Monique M. Ryan, Pascal Sabouraud, Ulrike Schara, Gabriele Siciliano, Liliana Vercelli, Thomas Voit, Grace Yoon, Rachel Alvarez, Francesco Muntoni, Tyler Mark Pierson, David Gómez‐Andrés, A. Reghan Foley, Susana Quijano‐Roy, Carsten G. Bönnemann, Gisèle Bonne

    出版 2021
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  7. 7
    Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

    Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses 由 Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, Satoko Miyatake, Kohei Hamanaka, Naomi Tsuchida, Hiromi Aoi, Yoshiteru Azuma, Toshiyuki Itai, Ken Saida, Hiromi Fukuda, Futoshi Sekiguchi, Tomohiro Sakaguchi, Ming Lei, Sachiko Ohori, Masamune Sakamoto, Mitsuhiro Kato, Takayoshi Koike, Yukitoshi Takahashi, Koichi Tanda, Yuki Hyodo, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim, Masahide Goto, Tetsuya Okazaki, Hiroyuki Yamada, Yoshihiro Maegaki, Hitoshi Osaka, Lock Hock Ngu, Gaik-Siew Ch’ng, Keng Wee Teik, Manami Akasaka, Hiroshi Doi, Fumiaki Tanaka, Tomohide Goto, Long Guo, Shiro Ikegawa, Kazuhiro Haginoya, Muzhirah Haniffa, Nozomi Hiraishi, Yoko Hiraki, Satoru Ikemoto, Atsuro Daida, Shin‐ichiro Hamano, Masaki Miura, Akihiko Ishiyama, Osamu Kawano, Akane Kondo, Hiroshi Matsumoto, Nobuhiko Okamoto, Tohru Okanishi, Yukimi Oyoshi, Eri Takeshita, Toshifumi Suzuki, Yoshiyuki Ogawa, Hiroshi Handa, Yayoi Miyazono, Eriko Koshimizu, Atsushi Fujita, Atsushi Takata, Noriko Miyake, Takeshi Mizuguchi, Naomichi Matsumoto

    出版 2020
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  8. 8
    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

    Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy 由 Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, Akihiko Ishiyama, Hirofumi Komaki, Takashi Saito, Eri Takeshita, Yuko Shimizu‐Motohashi, Kazuhiro Haginoya, Tomoko Kobayashi, Tomohide Goto, Yu Tsuyusaki, Mizue Iai, Kenji Kurosawa, Hitoshi Osaka, Jun Tohyama, Yu Kobayashi, Nobuhiko Okamoto, Yume Suzuki, Satoko Kumada, Kenji Inoue, Hideaki Mashimo, Atsuko Arisaka, Ichiro Kuki, Harumi Saijo, Kenji Yokochi, Mitsuhiro Kato, Yuji Inaba, Yuko Gomi, Shinji Saitoh, Kentaro Shirai, Masafumi Morimoto, Yuishin Izumi, Yoriko Watanabe, Shin-Ichiro Nagamitsu, Yasunari Sakai, Shinobu Fukumura, Kazuhiro Muramatsu, Tomomi Ogata, Keitaro Yamada, Keiko Ishigaki, Kyoko Hirasawa, Konomi Shimoda, Manami Akasaka, Kosuke Kohashi, Takafumi Sakakibara, Masashi Ikuno, Noriko Sugino, Takahiro Yonekawa, Semra Gürsoy, Tayfun Çinleti, Chong Ae Kim, Keng Wee Teik, Chan Mei Yan, Muzhirah Haniffa, Chihiro Ohba, Shuuichi Ito, Hirotomo Saitsu, Ken Saida, Naomi Tsuchida, Yuri Uchiyama, Eriko Koshimizu, Atsushi Fujita, Kohei Hamanaka, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto

    出版 2022
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