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Article

Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.

European journal of neurology - 1 May 2023

Lattante Serena, Sabatelli Mario, Bisogni Giulia, Marangi Giuseppe, Doronzio Paolo Niccolò, Martello Francesco, Renzi Anna Gloria, Del Giudice Elda, Leon Alberta, Cimbolli Paola, Marchione Daniela, Costantino Umberto, Lucioli Gabriele, Bernardo Daniela, Meleo Emiliana, Patanella Agata Katia, Romano Angela, Zollino Marcella, Conte Amelia

Abstract excerpt

BACKGROUND AND OBJECTIVES: Genetic variants in the gene TARDBP, encoding TDP-43 protein, are associated with amyotrophic lateral sclerosis (ALS) in familial (fALS) and sporadic (sALS) cases. Objectives of this study were to assess the contribution of TARDBP in a large cohort of Italian ALS patients, to determine the TARDBP-associated clinical features and to look for genotype-phenotype correlation and penetrance...

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PMID: 36732882
DOI: 10.1111/ene.15727

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