Large proportion of amyotrophic lateral sclerosis cases in Sardinia are due to a single founder mutation of the TARDBP gene

OBJECTIVE: To perform an extensive screening for mutations of amyotrophic lateral sclerosis (ALS)–related genes in a consecutive cohort of Sardinian patients, a genetic isolate phylogenically distinct from other European populations. DESIGN: Population-based, prospective cohort study. PATIENTS: A to...

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Detalhes bibliográficos
Main Authors: Chiò, Adriano, Borghero, Giuseppe, Pugliatti, Maura, Ticca, Anna, Calvo, Andrea, Moglia, Cristina, Mutani, Roberto, Brunetti, Maura, Ossola, Irene, Marrosu, Maria Giovanna, Murru, Maria Rita, Floris, Gianluca, Cannas, Antonino, Parish, Leslie D., Cossu, Paola, Abramzon, Yevgeniya, Johnson, Janel O., Nalls, Michael A., Arepalli, Sampath, Chong, Sean, Hernandez, Dena G., Traynor, Bryan J., Restagno, Gabriella
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3513278/
https://ncbi.nlm.nih.gov/pubmed/21220647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archneurol.2010.352
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