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

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. Population-based, prospective cohort study. A total of 135 Sardinian patients...

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Bibliographic Details
Published in:	Archives of neurology (Chicago) Vol. 68; no. 5; p. 594
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
Format:	Journal Article
Language:	English
Published:	United States 01-05-2011
Subjects:	Aged Alanine Amino Acid Substitution Amyotrophic Lateral Sclerosis - epidemiology Amyotrophic Lateral Sclerosis - genetics Case-Control Studies DNA Mutational Analysis DNA-Binding Proteins - genetics Female Founder Effect Genetic Predisposition to Disease Genotype Humans Italy - epidemiology Male Middle Aged Mutation, Missense Phenotype Prospective Studies RNA-Binding Protein FUS - genetics Superoxide Dismutase - genetics Superoxide Dismutase-1 Threonine
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