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

doi:10.1001/archneurol.2010.352

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Article

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

Archives of neurology - 1 May 2011

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

Abstract excerpt

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 total of 135 Sardinian patients with ALS and 156 healthy control subjects of Sardinian origin who were age- and...

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Identifiers

PMID: 21220647
DOI: 10.1001/archneurol.2010.352
PMCID: PMC3513278

Genes

TARDBP
FUS
SOD1

Variants

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