Works matching DE "MITOCHONDRIAL DNA abnormalities"

Results: 626
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    Case Report: Identification of a Novel Variant (m.8909T>C) of Human Mitochondrial ATP6 Gene and Its Functional Consequences on Yeast ATP Synthase.

    Published in:
    Life (2075-1729), 2020, v. 10, n. 9, p. 215, doi. 10.3390/life10090215
    By:
    • Ding, Qiuju;
    • Kucharczyk, Róża;
    • Zhao, Weiwei;
    • Dautant, Alain;
    • Xu, Shutian;
    • Niedzwiecka, Katarzyna;
    • Su, Xin;
    • Giraud, Marie-France;
    • Gombeau, Kewin;
    • Zhang, Mingchao;
    • Xie, Honglang;
    • Zeng, Caihong;
    • Bouhier, Marine;
    • di Rago, Jean-Paul;
    • Liu, Zhihong;
    • Tribouillard-Tanvier, Déborah;
    • Chen, Huimei
    Publication type:
    Article
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    Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy.

    Published in:
    Ophthalmic Genetics, 2008, v. 29, n. 1, p. 17, doi. 10.1080/13816810701867607
    By:
    • Shankar, Suma P.;
    • Fingert, John H.;
    • Carelli, Valerio;
    • Valentino, Maria L.;
    • King, Terri M.;
    • Daiger, Stephen P.;
    • Salomao, Solange R.;
    • Berezovsky, Adriana;
    • Belfort, Rubens;
    • Braun, Terri A.;
    • Sheffield, Val C.;
    • Sadun, Alfredo A.;
    • Stone, Edwin M.
    Publication type:
    Article
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    Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue.

    Published in:
    Molecular Brain, 2012, v. 5, n. 1, p. 35, doi. 10.1186/1756-6606-5-35
    By:
    • Yoichi Imaizumi;
    • Yohei Okada;
    • Wado Akamatsu;
    • Masato Koike;
    • Naoko Kuzumaki;
    • Hideki Hayakawa;
    • Tomoko Nihira;
    • Tetsuro Kobayashi;
    • Manabu Ohyama;
    • Shigeto Sato;
    • Masashi Takanashi;
    • Manabu Funayama;
    • Akiyoshi Hirayama;
    • Tomoyoshi Soga;
    • Takako Hishiki;
    • Makoto Suematsu;
    • Takuya Yagi;
    • Daisuke Ito;
    • Arifumi Kosakai;
    • Kozo Hayashi
    Publication type:
    Article
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    Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

    Published in:
    PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0221829
    By:
    • Gustafson, Margaret A.;
    • McCormick, Elizabeth M.;
    • Perera, Lalith;
    • Longley, Matthew J.;
    • Bai, Renkui;
    • Kong, Jianping;
    • Dulik, Matthew;
    • Shen, Lishuang;
    • Goldstein, Amy C.;
    • McCormack, Shana E.;
    • Laskin, Benjamin L.;
    • Leroy, Bart P.;
    • Ortiz-Gonzalez, Xilma R.;
    • Ellington, Meredith G.;
    • Copeland, William C.;
    • Falk, Marni J.
    Publication type:
    Article
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    Mitochondrial Cytopathies.

    Published in:
    Journal of Neurology, 2003, v. 250, n. 3, p. 267, doi. 10.1007/s00415-003-0978-3
    By:
    • Schmiedel, Janet;
    • Jackson, Sandra;
    • Schäfer, Jochen;
    • Reichmann, Heinz
    Publication type:
    Article
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