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TITLE: Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3 '-end processing  Full Text
AUTHORS: Makenzie Saoura; Christopher A Powell; Robert Kopajtich; Ahmad Alahmad; Haya H AL Balool; Buthaina Albash; Majid Alfadhel; Charlotte L Alston; Enrico Bertini; Penelope E Bonnen; Drago Bratkovic; Rosalba Carrozzo; Maria A Donati; Michela Di Nottia; Daniele Ghezzi; Amy Goldstein; Eric Haan; Rita Horvath; Joanne Hughes; Federica Invernizzi; Eleonora Lamantea; Benjamin Lucas; Kyla Gaye Pinnock; Maria Pujantell; Shamima Rahman; Pedro Rebelo Guiomar; Saikat Santra; Daniela Verrigni; Robert McFarland; Holger Prokisch; Robert W Taylor; Louis Levinger; Michal Minczuk; ...More
PUBLISHED: 2019, SOURCE: HUMAN MUTATION, VOLUME: 40, ISSUE: 10
INDEXED IN: Scopus WOS
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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
INDEXED IN: Scopus WOS CrossRef
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TITLE: Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency  Full Text
AUTHORS: Celia Nogueira; Barros, José ; Maria Jose Sa ; Luisa Azevedo ; Ricardo Taipa; Alessandra Torraco; Maria Chiara Meschini; Daniela Verrigni; Claudia Nesti; Teresa Rizza; Joao Teixeira; Rosalba Carrozzo; Manuel Melo Pires ; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2013, SOURCE: NEUROGENETICS, VOLUME: 14, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 39