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TITLE: Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo
AUTHORS: Payam A Gammage; Carlo Viscomi; Marie Lune Simard; Ana S H Costa; Edoardo Gaude; Christopher A Powell; Lindsey Van Haute; Beverlyj McCann; Pedro Rebelo Guiomar; Raffaele Cerutti; Lei Zhang; Edward J Rebar; Massimo Zevianil; Christian Frezza; James B Stewart; Michal Minczuk;
PUBLISHED: 2018, SOURCE: NATURE MEDICINE, VOLUME: 24, ISSUE: 11
INDEXED IN: Scopus WOS
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TITLE: Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
AUTHORS: Caterina Garone; Aaron R D'Souza; Cristina Dallabona; Tiziana Lodi; Pedro Rebelo Guiomar; Joanna Rorbach; Maria Alice Donati; Elena Procopio; Martino Montomoli; Renzo Guerrini; Massimo Zeviani; Sarah E Calvo; Vamsi K Mootha; Salvatore DiMauro; Ileana Ferrero; Michal Minczuk;
PUBLISHED: 2017, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 26, ISSUE: 21
INDEXED IN: Scopus WOS
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TITLE: Novel (ovario) leukodystrophy related to AARS2 mutations
AUTHORS: Cristina Dallabona; Daria Diodato; Sietske H Kevelam; Tobias B Haack; Lee Jun Wong; Gajja S Salomons; Enrico Baruffini; Laura Melchionda; Caterina Mariotti; Tim M Strom; Thomas Meitinger; Holger Prokisch; Kim Chapman; Alison Colley; Helena Rocha; Katrin Ounap; Raphael Schiffmann; Ettore Salsano; Mario Savoiardo; Eline M Hamilton; Truus E M Abbink; Nicole I Wolf; Ileana Ferrero; Costanza Lamperti; Massimo Zeviani; Adeline Vanderver; Daniele Ghezzi; Marjo S van der Knaap; ...More
PUBLISHED: 2014, SOURCE: NEUROLOGY, VOLUME: 82, ISSUE: 23
INDEXED IN: Scopus WOS CrossRef
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TITLE: Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations  Full Text
AUTHORS: Marjan E Steenweg; Daniele Ghezzi; Tobias Haack; Truus E M Abbink; Diego Martinelli; Carola G M van Berkel; Annette Bley; Luisa Diogo; Eugenio Grillo; Johann Te Water Naude; Tim M Strom; Enrico Bertini; Holger Prokisch; Marjo S van der Knaap; Massimo Zeviani;
PUBLISHED: 2012, SOURCE: BRAIN, VOLUME: 135, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef