Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
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Autori:
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
Pubblicato in:
Human Molecular Genetics, Numero 26/21, 2017, Pagina/e 4257-4266, ISSN 0964-6906
Editore:
Oxford University Press
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
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Autori:
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
Pubblicato in:
Brain, Numero 141/1, 2017, Pagina/e 55-62, ISSN 0006-8950
Editore:
Oxford University Press
DOI:
10.1093/brain/awx295
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
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Autori:
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.
Pubblicato in:
The American Journal of Human Genetics, Numero 101/4, 2017, Pagina/e 525-538, ISSN 0002-9297
Editore:
University of Chicago Press
DOI:
10.1016/j.ajhg.2017.08.015
Retrospective natural history of thymidine kinase 2 deficiency
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Autori:
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
Pubblicato in:
Journal of Medical Genetics, 2018, Pagina/e jmedgenet-2017-105012, ISSN 0022-2593
Editore:
British Medical Association
DOI:
10.1136/jmedgenet-2017-105012
