Search Results - Margaret A. Gustafson

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  1. 1
    Consequences of compromised mitochondrial genome integrity

    Consequences of compromised mitochondrial genome integrity by Margaret A. Gustafson, Eric D. Sullivan, William C. Copeland

    Published 2020
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  2. 2
    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

    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-S... by Margaret A. Gustafson, Elizabeth M. McCormick, L. Perera, Matthew J. Longley, Renkui Bai, Jianping Kong, Matthew C. Dulik, Li Shen, Amy Goldstein, Shana E. McCormack, Benjamin L. Laskin, Bart P. Leroy, Xilma R. Ortiz‐González, Meredith G. Ellington, William C. Copeland, Marni J. Falk

    Published 2019
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    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

    SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder by Valentina Del Dotto, Farid Ullah, Ivano Di Meo, Pamela Magini, Mirjana Gušić, Alessandra Maresca, Leonardo Caporali, Flavia Palombo, Francesca Tagliavini, Evan H. Baugh, Bertil Macao, Zsolt Szilágyi, Camille Peron, Margaret A. Gustafson, Kamal Khan, Chiara La Morgia, Piero Barboni, Michele Carbonelli, Maria Lucia Valentino, Rocco Liguori, Vandana Shashi, Jennifer L. Sullivan, Shashi Nagaraj, Mays El-Dairi, Alessandro Iannaccone, Ioana Cutcutache, Enrico Bertini, Rosalba Carrozzo, Francesco Emma, Francesca Diomedi‐Camassei, Claudia Zanna, Martin Armstrong, Matthew Page, Nicholas Stong, Sylvia Boesch, Robert Kopajtich, Saskia B. Wortmann, Wolfgang Sperl, Erica E. Davis, William C. Copeland, Marco Seri, Maria Falkenberg, Holger Prokisch, Nicholas Katsanis, Valeria Tiranti, Tommaso Pippucci, Valério Carelli

    Published 2019
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