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DISCOVERING NEW DISEASE PATHWAYS AFFECTING mtDNA METABOLISM

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Publications

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Author(s): 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 in: Human Molecular Genetics, Issue 26/21, 2017, Page(s) 4257-4266, ISSN 0964-6906
DOI: 10.1093/hmg/ddx314

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family

Author(s): Peter J Kullar, Aurora Gomez-Duran, Payam A Gammage, Caterina Garone, Michal Minczuk, Zoe Golder, Janet Wilson, Julio Montoya, Sanna Häkli, Mikko Kärppä, Rita Horvath, Kari Majamaa, Patrick F Chinnery
Published in: Brain, Issue 141/1, 2017, Page(s) 55-62, ISSN 0006-8950
DOI: 10.1093/brain/awx295

Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies

Author(s): René G. Feichtinger, Monika Oláhová, Yoshihito Kishita, Caterina Garone, Laura S. Kremer, Mikako Yagi, Takeshi Uchiumi, Alexis A. Jourdain, Kyle Thompson, Aaron R. D’Souza, Robert Kopajtich, Charlotte L. Alston, Johannes Koch, Wolfgang Sperl, Elisa Mastantuono, Tim M. Strom, Saskia B. Wortmann, Thomas Meitinger, Germaine Pierre, Patrick F. Chinnery, Zofia M. Chrzanowska-Lightowlers, Robert N.
Published in: The American Journal of Human Genetics, Issue 101/4, 2017, Page(s) 525-538, ISSN 0002-9297
DOI: 10.1016/j.ajhg.2017.08.015

Retrospective natural history of thymidine kinase 2 deficiency

Author(s): Caterina Garone, Robert W Taylor, Andrés Nascimento, Joanna Poulton, Carl Fratter, Cristina Domínguez-González, Julie C Evans, Mariana Loos, Pirjo Isohanni, Anu Suomalainen, Dipak Ram, M Imelda Hughes, Robert McFarland, Emanuele Barca, Carlos Lopez Gomez, Sandeep Jayawant, Neil D Thomas, Adnan Y Manzur, Karin Kleinsteuber, Miguel A Martin, Timothy Kerr, Grainne S Gorman, Ewen W Sommerville, Pat
Published in: Journal of Medical Genetics, 2018, Page(s) jmedgenet-2017-105012, ISSN 0022-2593
DOI: 10.1136/jmedgenet-2017-105012