ProfileOfResearchers

TITLE: Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
AUTHORS: Marisa W Friederich; Sharita Timal; Christopher A Powell; Cristina Dallabona; Alina Kurolap; Sara Palacios Zambrano; Drago Bratkovic; Terry G J Derks; David Bick; Katelijne Bouman; Kathryn C Chatfield; Nadine Damouny Naoum; Megan K Dishop; Tzipora C Falik Zaccai; Fuad Fares; Ayalla Fedida; Ileana Ferrero; Renata C Gallagher; Rafael Garesse; Micol Gilberti; Cristina Gonzalez; Katherine Gowan; Clair Habib; Rebecca K Halligan; Limor Kalfon; Kaz Knight; Dirk Lefeber; Laura Mamblona; Hanna Mandel; Adi Mory; John Ottoson; Tamar Paperna; Ger J M Pruijn; Pedro F Rebelo Guiomar; Ann Saada; Bruno Sainz; Hayley Salvemini; Mirthe H Schoots; Jan A Smeitink; Maciej J Szukszto; Hendrik J ter Horst; Frans van den Brandt; Francjan J van Spronsen; Joris A Veltman; Eric Wartchow; Liesbeth T Wintjes; Yaniv Zohar; Miguel A Fernandez Moreno; Hagit N Baris; Claudia Donnini; Michal Minczuk; Richard J Rodenburg; Johan L K Van Hove; ...More
PUBLISHED: 2018, SOURCE: NATURE COMMUNICATIONS, VOLUME: 9, ISSUE: 1

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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

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TITLE: LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance Full Text
AUTHORS: Cristina Dallabona; Truus E M Abbink; Rosalba Carrozzo; Alessandra Torraco; Andrea Legati; Carola G M van Berkel; Marcello Niceta; Tiziana Langella; Daniela Verrigni; Teresa Rizza; Daria Diodato; Fiorella Piemonte; Eleonora Lamantea; Mingyan Y Fang; Jianguo G Zhang; Diego Martinelli; Elsa Bevivino; Carlo Dionisi Vici; Adeline Vanderver; Sunny G Philip; Manju A Kurian; Ishwar C Verma; Sunita Bijarnia Mahay; Sandra Jacinto; Fatima Furtado; Patrizia Accorsi; Anna Ardissone; Isabella Moroni; Ileana Ferrero; Marco Tartaglia; Paola Goffrini; Daniele Ghezzi; Marjo S van der Knaap; Enrico Bertini; ...More
PUBLISHED: 2016, SOURCE: BRAIN, VOLUME: 139, ISSUE: 3

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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

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