Результаты поиска - Margaret A. Gustafson
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Consequences of compromised mitochondrial genome integrity по Margaret A. Gustafson, Eric D. Sullivan, William C. Copeland
Опубликовано 2020Revisão -
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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-S... по 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
Опубликовано 2019Artigo -
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SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder по 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
Опубликовано 2019Artigo