Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ∼40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype...

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Autors principals: Chiò, Adriano, Borghero, Giuseppe, Restagno, Gabriella, Mora, Gabriele, Drepper, Carsten, Traynor, Bryan J., Sendtner, Michael, Brunetti, Maura, Ossola, Irene, Calvo, Andrea, Pugliatti, Maura, Sotgiu, Maria Alessandra, Murru, Maria Rita, Marrosu, Maria Giovanna, Marrosu, Francesco, Marinou, Kalliopi, Mandrioli, Jessica, Sola, Patrizia, Caponnetto, Claudia, Mancardi, Gianluigi, Mandich, Paola, La Bella, Vincenzo, Spataro, Rossella, Conte, Amelia, Monsurrò, Maria Rosaria, Tedeschi, Gioacchino, Pisano, Fabrizio, Bartolomei, Ilaria, Salvi, Fabrizio, Lauria Pinter, Giuseppe, Simone, Isabella, Logroscino, Giancarlo, Gambardella, Antonio, Quattrone, Aldo, Lunetta, Christian, Volanti, Paolo, Zollino, Marcella, Penco, Silvana, Battistini, Stefania, Renton, Alan E., Majounie, Elisa, Abramzon, Yevgeniya, Conforti, Francesca Luisa, Giannini, Fabio, Corbo, Massimo, Sabatelli, Mario
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3286333/
https://ncbi.nlm.nih.gov/pubmed/22366794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awr366
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