Article
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
Neurobiology of aging - 1 Aug 2012
Sabatelli Mario, Conforti Francesca Luisa, Zollino Marcella, Mora Gabriele, Monsurrò Maria Rosaria, Volanti Paolo, Marinou Kalliopi, Salvi Fabrizio, Corbo Massimo, Giannini Fabio, Battistini Stefania, Penco Silvana, Lunetta Christian, Quattrone Aldo, Gambardella Antonio, Logroscino Giancarlo, Simone Isabella, Bartolomei Ilaria, Pisano Fabrizio, Tedeschi Gioacchino, Conte Amelia, Spataro Rossella, La Bella Vincenzo, Caponnetto Claudia, Mancardi Gianluigi, Mandich Paola, Sola Patrizia, Mandrioli Jessica, Renton Alan E, Majounie Elisa, Abramzon Yevgeniya, Marrosu Francesco, Marrosu Maria Giovanna, Murru Maria Rita, Sotgiu Maria Alessandra, Pugliatti Maura, Rodolico Carmelo, Moglia Cristina, Calvo Andrea, Ossola Irene, Brunetti Maura, Traynor Bryan J, Borghero Giuseppe, Restagno Gabriella, Chiò Adriano
Abstract excerpt
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians...
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