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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: Lyonization Effects of the t(X;16) Translocation on the Phenotypic Expression in a Rare Female With Menkes Disease
AUTHORS: Pietro Sirleto; Cecilia Surace; Helena Santos; Enrico Bertini; Anna C Tomaiuolo; Antonietta Lombardo; Sara Boenzi; Elsa Bevivino; Carlo Dionisi Vici; Adriano Angioni;
PUBLISHED: 2009, SOURCE: PEDIATRIC RESEARCH, VOLUME: 65, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef