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...

সম্পূর্ণ বিবরণ

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
প্রধান লেখক: 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
বিন্যাস: Artigo
ভাষা:Inglês
প্রকাশিত: Oxford University Press 2012
বিষয়গুলি:
Original Articles
অনলাইন ব্যবহার করুন: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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