Works by Matsumura, Tsuyoshi


Results: 40
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    RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy.

    Published in:
    Human Genetics, 2023, v. 142, n. 1, p. 59, doi. 10.1007/s00439-022-02485-2
    By:
    • Okubo, Mariko;
    • Noguchi, Satoru;
    • Awaya, Tomonari;
    • Hosokawa, Motoyasu;
    • Tsukui, Nobue;
    • Ogawa, Megumu;
    • Hayashi, Shinichiro;
    • Komaki, Hirofumi;
    • Mori-Yoshimura, Madoka;
    • Oya, Yasushi;
    • Takahashi, Yuji;
    • Fukuyama, Tetsuhiro;
    • Funato, Michinori;
    • Hosokawa, Yousuke;
    • Kinoshita, Satoru;
    • Matsumura, Tsuyoshi;
    • Nakamura, Sadao;
    • Oshiro, Azusa;
    • Terashima, Hiroshi;
    • Nagasawa, Tetsuro
    Publication type:
    Article
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    Japanese and American ALS patient preferences regarding TIV (tracheostomy with invasive ventilation): A cross-national survey.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2014, v. 15, n. 3/4, p. 185, doi. 10.3109/21678421.2014.896928
    By:
    • Rabkin, Judith;
    • Ogino, Mieko;
    • Goetz, Raymond;
    • McElhiney, Martin;
    • Hupf, Jonathan;
    • Heitzman, Daragh;
    • Heiman-Patterson, Terry;
    • Miller, Robert;
    • Katz, Jonathan;
    • Lomen-Hoerth, Catherine;
    • Imai, Takashi;
    • Atsuta, Naoki;
    • Morita, Mitsuya;
    • Tateishi, Takahisa;
    • Matsumura, Tsuyoshi;
    • Mitsumoto, Hiroshi
    Publication type:
    Article
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    Screening for late-onset Pompe disease in undiagnosed myopathies.

    Published in:
    Neurology & Clinical Neuroscience, 2017, v. 5, n. 2, p. 60, doi. 10.1111/ncn3.12108
    By:
    • Matsui, Misa;
    • Inoue, Kimiko;
    • Sakoda, Saburo;
    • Matsumura, Tsuyoshi;
    • Hamazaki, Takashi;
    • Kosuga, Motomichi;
    • Okuyama, Torayuki;
    • Shimada, Yohta;
    • Ohashi, Toya;
    • Nishino, Ichizo
    Publication type:
    Article
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    Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.

    Published in:
    Annals of Clinical & Translational Neurology, 2023, v. 10, n. 12, p. 2360, doi. 10.1002/acn3.51925
    By:
    • Nakamura, Akinori;
    • Matsumura, Tsuyoshi;
    • Ogata, Katsuhisa;
    • Mori‐Yoshimura, Madoka;
    • Takeshita, Eri;
    • Kimura, Koichi;
    • Kawashima, Takahiro;
    • Tomo, Yui;
    • Arahata, Hajime;
    • Miyazaki, Daigo;
    • Takeshima, Yasuhiro;
    • Takahashi, Toshiaki;
    • Ishigaki, Keiko;
    • Kuru, Satoshi;
    • Wakisaka, Akiko;
    • Awano, Hiroyuki;
    • Funato, Michinori;
    • Sato, Tatsuharu;
    • Saito, Yoshiaki;
    • Takada, Hiroto
    Publication type:
    Article
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    Viltolarsen in Japanese Duchenne muscular dystrophy patients: A phase 1/2 study.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 12, p. 2393, doi. 10.1002/acn3.51235
    By:
    • Komaki, Hirofumi;
    • Takeshima, Yasuhiro;
    • Matsumura, Tsuyoshi;
    • Ozasa, Shiro;
    • Funato, Michinori;
    • Takeshita, Eri;
    • Iwata, Yasuyuki;
    • Yajima, Hiroyuki;
    • Egawa, Yoichi;
    • Toramoto, Takuya;
    • Tajima, Masaya;
    • Takeda, Shinichi
    Publication type:
    Article
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    Early phase 2 trial of TAS‐205 in patients with Duchenne muscular dystrophy.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 2, p. 181, doi. 10.1002/acn3.50978
    By:
    • Komaki, Hirofumi;
    • Maegaki, Yoshihiro;
    • Matsumura, Tsuyoshi;
    • Shiraishi, Kazuhiro;
    • Awano, Hiroyuki;
    • Nakamura, Akinori;
    • Kinoshita, Satoru;
    • Ogata, Katsuhisa;
    • Ishigaki, Keiko;
    • Saitoh, Shinji;
    • Funato, Michinori;
    • Kuru, Satoshi;
    • Nakayama, Takahiro;
    • Iwata, Yasuyuki;
    • Yajima, Hiroyuki;
    • Takeda, Shin'ichi
    Publication type:
    Article
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    Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

    Published in:
    Nature Communications, 2016, v. 7, n. 4, p. 11067, doi. 10.1038/ncomms11067
    By:
    • Freyermuth, Fernande;
    • Rau, Frédérique;
    • Kokunai, Yosuke;
    • Linke, Thomas;
    • Sellier, Chantal;
    • Nakamori, Masayuki;
    • Kino, Yoshihiro;
    • Arandel, Ludovic;
    • Jollet, Arnaud;
    • Thibault, Christelle;
    • Philipps, Muriel;
    • Vicaire, Serge;
    • Jost, Bernard;
    • Udd, Bjarne;
    • Day, John W.;
    • Duboc, Denis;
    • Wahbi, Karim;
    • Matsumura, Tsuyoshi;
    • Fujimura, Harutoshi;
    • Mochizuki, Hideki
    Publication type:
    Article
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    Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.

    Published in:
    2022
    By:
    • Hiramuki, Yosuke;
    • Kure, Yuriko;
    • Saito, Yoshihiko;
    • Ogawa, Megumu;
    • Ishikawa, Keiko;
    • Mori-Yoshimura, Madoka;
    • Oya, Yasushi;
    • Takahashi, Yuji;
    • Kim, Dae-Seong;
    • Arai, Noriko;
    • Mori, Chiaki;
    • Matsumura, Tsuyoshi;
    • Hamano, Tadanori;
    • Nakamura, Kenichiro;
    • Ikezoe, Koji;
    • Hayashi, Shinichiro;
    • Goto, Yuichi;
    • Noguchi, Satoru;
    • Nishino, Ichizo
    Publication type:
    journal article
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    Efficacy of tranilast in preventing exacerbating cardiac function and death from heart failure in muscular dystrophy patients with advanced-stage heart failure: a single-arm, open-label, multicenter study.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03538-1
    By:
    • Matsumura, Tsuyoshi;
    • Fukudome, Takayasu;
    • Motoyoshi, Yasufumi;
    • Nakamura, Akinori;
    • Kuru, Satoshi;
    • Segawa, Kazuhiko;
    • Kitao, Ruriko;
    • Watanabe, Chigusa;
    • Tamura, Takuhisa;
    • Takahashi, Toshiaki;
    • Hashimoto, Hiroya;
    • Sekimizu, Masahiro;
    • Saito, Akiko M.;
    • Asakura, Masanori;
    • Kimura, Koichi;
    • Iwata, Yuko
    Publication type:
    Article