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TITLE: Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome  Full Text
AUTHORS: Celia Nogueira; Jorge Sales Marques; Claudia Nesti; Luisa Azevedo ; Martina Di Lullo; Chiara C Meschini; Antonio Orlacchio; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 2
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TITLE: Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity  Full Text
AUTHORS: Giovanni Stevanin; Giorgia Montagna; Hamid Azzedine; Enza Maria Valente; Alexandra Durr; Valentina Scarano; Naima Bouslam; Denise Cassandrini; Paola S Denora; Chiara Criscuolo; Soraya Belarbi; Antonio Orlacchio; Philippe Jonveaux; Gabriella Silvestri; Anne Marie O Ouvrad Hernandez; Giuseppe De Michele; Meriem Tazir; Caterina Mariotti; Knut Brockmann; Alessandro Malandrini; Marjo S van der Knapp; Marcella Neri; Hassan Tonekaboni; Mariarosa A B Melone; Alessandra Tessa; Teresa T Dotti; Michela Tosetti; Flavia Pauri; Antonio Federico; Carlo Casali; Vitor T Cruz ; Jos L Loureiro ; Federico Zara; Sylvie Forlani; Enrico Bertini; Paula Coutinho ; Alessandro Filla; Alexis Brice; Filippo M Santorelli; ...More
PUBLISHED: 2006, SOURCE: NEUROGENETICS, VOLUME: 7, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 35