Works matching AU Goto, Yu-ichi


Results: 92
    1

    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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    Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.

    Published in:
    Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
    By:
    • Imai, Takeshi;
    • Mitsuhashi, Satomi;
    • Isahaya, Kenji;
    • Shibata, Soichiro;
    • Kawai, Yosuke;
    • Omae, Yosuke;
    • Tokunaga, Katsushi;
    • Ishibashi-Ueda, Hatsue;
    • Tomita, Tsutomu;
    • Noguchi, Michio;
    • Takahashi, Ayako;
    • Goto, Yu-ichi;
    • Yoshida, Sumiko;
    • Hattori, Kotaro;
    • Matsumura, Ryo;
    • Iida, Aritoshi;
    • Maruoka, Yutaka;
    • Gatanaga, Hiroyuki;
    • Shimomura, Akihiko;
    • Sugiyama, Masaya
    Publication type:
    Article
    6

    National Center Biobank Network.

    Published in:
    Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00217-6
    By:
    • Omae, Yosuke;
    • Goto, Yu-ichi;
    • Tokunaga, Katsushi
    Publication type:
    Article
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    Mitochondrial DNA mutation and Leigh's syndrome.

    Published in:
    1992
    By:
    • Sakuta, Ryoichi;
    • Goto, Yu-Ichi;
    • Nonaka, Ikuya;
    • Horai, Satoshi;
    • Ogino, Tatsuya;
    • Yoshinaga, Harumi;
    • Ohtahara, Shunsuke;
    • Sakuta, R;
    • Goto, Y;
    • Horai, S;
    • Ogino, T;
    • Yoshinaga, H;
    • Ohtahara, S;
    • Nonaka, I
    Publication type:
    Case Study
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    Plasma Metabolites Predict Severity of Depression and Suicidal Ideation in Psychiatric Patients-A Multicenter Pilot Analysis.

    Published in:
    PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0165267
    By:
    • Setoyama, Daiki;
    • Kato, Takahiro A.;
    • Hashimoto, Ryota;
    • Kunugi, Hiroshi;
    • Hattori, Kotaro;
    • Hayakawa, Kohei;
    • Sato-Kasai, Mina;
    • Shimokawa, Norihiro;
    • Kaneko, Sachie;
    • Yoshida, Sumiko;
    • Goto, Yu-ichi;
    • Yasuda, Yuka;
    • Yamamori, Hidenaga;
    • Ohgidani, Masahiro;
    • Sagata, Noriaki;
    • Miura, Daisuke;
    • Kang, Dongchon;
    • Kanba, Shigenobu
    Publication type:
    Article
    19

    Mitochondrial abnormalities in selenium-deficient myopathy.

    Published in:
    1998
    By:
    • Osaki, Yasushi;
    • Nishino, Ichizo;
    • Murakami, Nobuyuki;
    • Matsubayashi, Kozo;
    • Tsuda, Keisuke;
    • Yokoyama, Yu-Ichi;
    • Morita, Masanori;
    • Onishi, Saburo;
    • Goto, Yu-Ichi;
    • Nonaka, Ikuya;
    • Osaki, Y;
    • Nishino, I;
    • Murakami, N;
    • Matsubayashi, K;
    • Tsuda, K;
    • Yokoyama, Y I;
    • Morita, M;
    • Onishi, S;
    • Goto, Y I;
    • Nonaka, I
    Publication type:
    journal article
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    Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.

    Published in:
    2019
    By:
    • Itoh, Masayuki;
    • Dai, Hongmei;
    • Horike, Shin-ichi;
    • Gonzalez, John;
    • Kitami, Yoshikazu;
    • Meguro-Horike, Makiko;
    • Kuki, Ichiro;
    • Shimakawa, Shuichi;
    • Yoshinaga, Harumi;
    • Ota, Yoko;
    • Okazaki, Tetsuya;
    • Maegaki, Yoshihiro;
    • Nabatame, Shin;
    • Okazaki, Shin;
    • Kawawaki, Hisashi;
    • Ueno, Naoto;
    • Goto, Yu-ichi;
    • Kato, Yoichi
    Publication type:
    journal article
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    Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation.

    Published in:
    Human Mutation, 2013, v. 34, n. 3, p. 446, doi. 10.1002/humu.22257
    By:
    • Miyake, Noriko;
    • Yano, Shoji;
    • Sakai, Chika;
    • Hatakeyama, Hideyuki;
    • Matsushima, Yuichi;
    • Shiina, Masaaki;
    • Watanabe, Yoriko;
    • Bartley, James;
    • Abdenur, Jose E.;
    • Wang, Raymond Y.;
    • Chang, Richard;
    • Tsurusaki, Yoshinori;
    • Doi, Hiroshi;
    • Nakashima, Mitsuko;
    • Saitsu, Hirotomo;
    • Ogata, Kazuhiro;
    • Goto, Yu‐ichi;
    • Matsumoto, Naomichi
    Publication type:
    Article
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    Expression of ARPP-16/19 in Rat Denervated Skeletal Muscle.

    Published in:
    Journal of Biochemistry, 2003, v. 134, n. 1, p. 57, doi. 10.1093/jb/mvg113
    By:
    • Yoshikawa, Ayumu;
    • Mitsuhashi, Hiroaki;
    • Sasagawa, Noboru;
    • Tsukahara, Toshifumi;
    • Hayashi, Yukiko;
    • Nishino, Ichizo;
    • Goto, Yu-ichi;
    • Ishiura, Shoichi
    Publication type:
    Article
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    Adult Leigh syndrome with mitochondrial DNA mutation at 8993.

    Published in:
    Acta Neuropathologica, 1999, v. 97, n. 4, p. 416, doi. 10.1007/s004010051007
    By:
    • Nagashima, T.;
    • Mori, Masamitsu;
    • Katayama, Katsuyuki;
    • Nunomura, Mitsuru;
    • Nishihara, Hiroshi;
    • Hiraga, Hiroaki;
    • Tanaka, Shinya;
    • Goto, Yu-ichi;
    • Nagashima, Kazuo
    Publication type:
    Article
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