Article
Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease.
Neurology - 3 Jul 2012
Lattante Serena, Conte Amelia, Zollino Marcella, Luigetti Marco, Del Grande Alessandra, Marangi Giuseppe, Romano Angela, Marcaccio Alessandro, Meleo Emiliana, Bisogni Giulia, Rossini Paolo Maria, Sabatelli Mario
Abstract excerpt
OBJECTIVES: To quantify the overall contribution of mutations in the currently known amyotrophic lateral sclerosis (ALS) genes in a large cohort of sporadic patients and to make genotype-phenotype correlations. METHODS: Screening for SOD1, TARDBP, FUS, ANG, ATXN2, OPTN, and C9ORF72 was carried out in 480 consecutive patients with sporadic ALS (SALS) and in 48 familial ALS (FALS) index patients admitted to a...
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