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TITLE: Null mutations and lethal congenital form of glycogen storage disease type IV  Full Text
AUTHORS: Stefania Assereto; Otto P van Diggelen; Luisa Diogo; Eva Morava; Denise Cassandrini; Isabel Carreira; Willem Pieter de Boode; Jildau Dilling; Paula Garcia; Margarida Henriques; Olinda Rebelo; Henk ter Laak; Carlo Minetti; Claudio Bruno;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 361, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
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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