C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS ca...

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Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: 2012
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Article
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3372681/
https://ncbi.nlm.nih.gov/pubmed/22418734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2012.02.011
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