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
    2
    3

    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
    4

    Haplotype structures ofEPHX1and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients.

    Published in:
    European Journal of Clinical Pharmacology, 2005, v. 61, n. 1, p. 25, doi. 10.1007/s00228-004-0878-1
    By:
    • Nakajima, Yukiko;
    • Saito, Yoshiro;
    • Shiseki, Kisho;
    • Fukushima-Uesaka, Hiromi;
    • Hasegawa, Ryuichi;
    • Ozawa, Shogo;
    • Sugai, Kenji;
    • Katoh, Masaaki;
    • Saitoh, Osamu;
    • Ohnuma, Teiichi;
    • Kawai, Mitsuru;
    • Ohtsuki, Taisuke;
    • Suzuki, Chieko;
    • Minami, Narihiro;
    • Kimura, Hideo;
    • Goto, Yu-ichi;
    • Kamatani, Naoyuki;
    • Kaniwa, Nahoko;
    • Sawada, Jun-ichi
    Publication type:
    Article
    5
    6
    7
    8
    9
    10
    11
    12
    13

    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
    14
    15
    16

    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
    17

    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
    18
    19
    20
    21
    22

    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
    23
    24
    25
    26
    27
    28
    29
    30
    31

    Higd1a improves respiratory function in the models of mitochondrial disorder.

    Published in:
    FASEB Journal, 2020, v. 34, n. 1, p. 1859, doi. 10.1096/fj.201800389R
    By:
    • Nagao, Takemasa;
    • Shintani, Yasunori;
    • Hayashi, Takaharu;
    • Kioka, Hidetaka;
    • Kato, Hisakazu;
    • Nishida, Yuya;
    • Yamazaki, Satoru;
    • Tsukamoto, Osamu;
    • Yashirogi, Shohei;
    • Yazawa, Issei;
    • Asano, Yoshihiro;
    • Shinzawa‐Itoh, Kyoko;
    • Imamura, Hiromi;
    • Suzuki, Takeo;
    • Suzuki, Tsutomu;
    • Goto, Yu‐ichi;
    • Takashima, Seiji
    Publication type:
    Article
    32
    33

    Dysferlinopathy associated with rigid spine syndrome.

    Published in:
    Neuropathology, 2004, v. 24, n. 4, p. 341, doi. 10.1111/j.1440-1789.2004.00573.x
    By:
    • Nagashima, Toshiko;
    • Chuma, Takayo;
    • Mano, Yukio;
    • Goto, Yu-ichi;
    • Hayashi, Yukiko K.;
    • Minami, Narihiro;
    • Nishino, Ichizo;
    • Nonaka, Ikuya;
    • Takahashi, Toshiaki;
    • Sawa, Hirofumi;
    • Aoki, Masashi;
    • Nagashima, Kazuo
    Publication type:
    Article
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46

    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
    47
    48
    49
    50

    Increased cerebrospinal fluid fibrinogen in major depressive disorder.

    Published in:
    Scientific Reports, 2015, p. 11412, doi. 10.1038/srep11412
    By:
    • Hattori, Kotaro;
    • Ota, Miho;
    • Sasayama, Daimei;
    • Yoshida, Sumiko;
    • Matsumura, Ryo;
    • Miyakawa, Tomoko;
    • Yokota, Yuuki;
    • Yamaguchi, Shinobu;
    • Noda, Takamasa;
    • Teraishi, Toshiya;
    • Hori, Hiroaki;
    • Higuchi, Teruhiko;
    • Kohsaka, Shinichi;
    • Goto, Yu-ichi;
    • Kunugi, Hiroshi
    Publication type:
    Article