Works by Noguchi, Satoru


Results: 66
    1

    Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

    Published in:
    2017
    By:
    • Mariko Okubo;
    • Kanako Goto;
    • Hirofumi Komaki;
    • Harumasa Nakamura;
    • Madoka Mori-Yoshimura;
    • Yukiko K. Hayashi;
    • Satomi Mitsuhashi;
    • Satoru Noguchi;
    • En Kimura;
    • Ichizo Nishino;
    • Okubo, Mariko;
    • Goto, Kanako;
    • Komaki, Hirofumi;
    • Nakamura, Harumasa;
    • Mori-Yoshimura, Madoka;
    • Hayashi, Yukiko K;
    • Mitsuhashi, Satomi;
    • Noguchi, Satoru;
    • Kimura, En;
    • Nishino, Ichizo
    Publication type:
    journal article
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    Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

    Published in:
    JAMA Neurology, 2021, v. 78, n. 7, p. 853, doi. 10.1001/jamaneurol.2021.1509
    By:
    • Kumutpongpanich, Theerawat;
    • Ogasawara, Masashi;
    • Ozaki, Ayami;
    • Ishiura, Hiroyuki;
    • Tsuji, Shoji;
    • Minami, Narihiro;
    • Hayashi, Shinichiro;
    • Noguchi, Satoru;
    • Iida, Aritoshi;
    • Nishino, Ichizo;
    • Mori-Yoshimura, Madoka;
    • Oya, Yasushi;
    • Ono, Kenjiro;
    • Shimizu, Toshio;
    • Kawata, Akihiro;
    • Shimohama, Shun;
    • Toyooka, Keiko;
    • Endo, Kaoru;
    • Toru, Shuta;
    • Sasaki, Oga
    Publication type:
    Article
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    Association of Dermatomyositis Sine Dermatitis With Anti–Nuclear Matrix Protein 2 Autoantibodies.

    Published in:
    JAMA Neurology, 2020, v. 77, n. 7, p. 872, doi. 10.1001/jamaneurol.2020.0673
    By:
    • Inoue, Michio;
    • Tanboon, Jantima;
    • Hirakawa, Shinya;
    • Komaki, Hirofumi;
    • Fukushima, Takeshi;
    • Awano, Hiroyuki;
    • Tajima, Takashi;
    • Yamazaki, Kenji;
    • Hayashi, Ryutaro;
    • Mori, Tatsuo;
    • Shibuya, Kazumoto;
    • Yamanoi, Takahiko;
    • Yoshimura, Hajime;
    • Ogawa, Tomohiro;
    • Katayama, Atsushi;
    • Sugai, Fuminobu;
    • Nakayama, Yoichi;
    • Yamaguchi, Satoko;
    • Hayashi, Shinichiro;
    • Noguchi, Satoru
    Publication type:
    Article
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    CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01084-4
    By:
    • Ogasawara, Masashi;
    • Iida, Aritoshi;
    • Kumutpongpanich, Theerawat;
    • Ozaki, Ayami;
    • Oya, Yasushi;
    • Konishi, Hirofumi;
    • Nakamura, Akinori;
    • Abe, Ryuta;
    • Takai, Hiroshi;
    • Hanajima, Ritsuko;
    • Doi, Hiroshi;
    • Tanaka, Fumiaki;
    • Nakamura, Hisayoshi;
    • Nonaka, Ikuya;
    • Wang, Zhaoxia;
    • Hayashi, Shinichiro;
    • Noguchi, Satoru;
    • Nishino, Ichizo
    Publication type:
    Article
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    Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.

    Published in:
    Neuropathology & Applied Neurobiology, 2022, v. 48, n. 3, p. 1, doi. 10.1111/nan.12787
    By:
    • Ogasawara, Masashi;
    • Eura, Nobuyuki;
    • Nagaoka, Utako;
    • Sato, Tatsuro;
    • Arahata, Hajime;
    • Hayashi, Tomohiro;
    • Okamoto, Tomoko;
    • Takahashi, Yuji;
    • Mori‐Yoshimura, Madoka;
    • Oya, Yasushi;
    • Nakamura, Akinori;
    • Shimazaki, Rui;
    • Sano, Terunori;
    • Kumutpongpanich, Theerawat;
    • Minami, Narihiro;
    • Hayashi, Shinichiro;
    • Noguchi, Satoru;
    • Iida, Aritoshi;
    • Takao, Masaki;
    • Nishino, Ichizo
    Publication type:
    Article
    13

    A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24644-1
    By:
    • Yamazawa, Toshiko;
    • Kobayashi, Takuya;
    • Kurebayashi, Nagomi;
    • Konishi, Masato;
    • Noguchi, Satoru;
    • Inoue, Takayoshi;
    • Inoue, Yukiko U.;
    • Nishino, Ichizo;
    • Mori, Shuichi;
    • Iinuma, Hiroto;
    • Manaka, Noriaki;
    • Kagechika, Hiroyuki;
    • Uryash, Arkady;
    • Adams, Jose;
    • Lopez, Jose R.;
    • Liu, Xiaochen;
    • Diggle, Christine;
    • Allen, Paul D.;
    • Kakizawa, Sho;
    • Ikeda, Keigo
    Publication type:
    Article
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    Complex IV subunit isoform COX6A2 protects fast‐spiking interneurons from oxidative stress and supports their function.

    Published in:
    EMBO Journal, 2020, v. 39, n. 18, p. 1, doi. 10.15252/embj.2020105759
    By:
    • Sanz‐Morello, Berta;
    • Pfisterer, Ulrich;
    • Winther Hansen, Nikolaj;
    • Demharter, Samuel;
    • Thakur, Ashish;
    • Fujii, Katsunori;
    • Levitskii, Sergey A;
    • Montalant, Alexia;
    • Korshunova, Irina;
    • Mammen, Pradeep PA;
    • Kamenski, Piotr;
    • Noguchi, Satoru;
    • Aldana, Blanca Irene;
    • Hougaard, Karin Sørig;
    • Perrier, Jean‐François;
    • Khodosevich, Konstantin
    Publication type:
    Article
    19

    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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    COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

    Published in:
    2019
    By:
    • Inoue, Michio;
    • Uchino, Shumpei;
    • Iida, Aritoshi;
    • Noguchi, Satoru;
    • Hayashi, Shinichiro;
    • Takahashi, Tsutomu;
    • Fujii, Katsunori;
    • Komaki, Hirofumi;
    • Takeshita, Eri;
    • Nonaka, Ikuya;
    • Okada, Yukinori;
    • Yoshizawa, Takuya;
    • Van Lommel, Leentje;
    • Schuit, Frans;
    • Goto, Yu‐ichi;
    • Mimaki, Masakazu;
    • Nishino, Ichizo;
    • Goto, Yu-Ichi
    Publication type:
    journal article
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    Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.

    Published in:
    Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841
    By:
    • McNally, Elizabeth M.;
    • Duggan, David;
    • Rafael Gorospe, J.;
    • Bönnemann, Carsten G.;
    • Fanin, Marina;
    • Pegoraro, Elena;
    • Lidov, Hart G. W.;
    • Noguchi, Satoru;
    • Ozawa, Eijiro;
    • Finkel, Richard S.;
    • Cruse, Robert P.;
    • Angelini, Corrado;
    • Kunkel, Louis M.;
    • Hoffman, Eric P.
    Publication type:
    Article
    36

    A nationwide survey on marinesco-sjögren syndrome in Japan.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-58
    By:
    • Masahide Goto;
    • Mari Okada;
    • Hirofumi Komaki;
    • Kenji Sugai;
    • Masayuki Sasaki;
    • Satoru Noguchi;
    • Ikuya Nonaka;
    • Ichizo Nishino;
    • Hayashi, Yukiko K.
    Publication type:
    Article
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