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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.

Neurology - 26 Jan 2021

Grassano Maurizio, Calvo Andrea, Moglia Cristina, Brunetti Maura, Barberis Marco, Sbaiz Luca, Canosa Antonio, Manera Umberto, Vasta Rosario, Corrado Lucia, D'Alfonso Sandra, Mazzini Letizia, Scholz Sonja W, Dalgard Clifton, Ding Jinhui, Gibbs Raphael J, Chia Ruth, Traynor Bryan J, Chiò Adriano

Abstract excerpt

OBJECTIVE: To assess the burden of rare genetic variants and to estimate the contribution of known amyotrophic lateral sclerosis (ALS) genes in an Italian population-based cohort, we performed whole genome sequencing in 959 patients with ALS and 677 matched healthy controls. METHODS: We performed genome sequencing in a population-based cohort (Piemonte and Valle d'Aosta Registry for ALS [PARALS]). A panel of 40...

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PMID: 33208543
DOI: 10.1212/WNL.0000000000011209
PMCID: PMC7905787

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Source receipt: pubmed, retrieved 7 Sept 2026.

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