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An unusual presentation of Huntington’s disease-like syndrome in a patient with Xeroderma pigmentosum type F: Case report and review of the literature by Nicolas De Cleene, Federico Carbone, Clancy Cerejo, Marina Peball, Franco Stanzial, Francesco Benedicenti, Renate Lunzer, Klaus Seppi, Beatrice Heim
Published 2025-01-01Get full text
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Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variants. by Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis
Published 2012-01-01Get full text
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