Open AccessMutational Analysis of Known ALS Genes in an Italian Population-Based Cohort
Author(s) -
Maurizio Grassano,
Andrea Calvo,
Cristina Moglia,
Maura Brunetti,
Marco Barberis,
Luca Sbaiz,
Antonio Canosa,
Umberto Manera,
Rosario Vasta,
Lucia Corrado,
Sandra D’Alfonso,
Letizia Mazzini,
Sonja W. Scholz,
Clifton L. Dalgard,
Jinhui Ding,
Raphael Gibbs,
Ruth Chia,
Bryan J. Traynor,
Adriano Chiò
Publication year - 2021
Publication title -
neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.91
H-Index - 364
eISSN - 1526-632X
pISSN - 0028-3878
DOI - 10.1212/wnl.0000000000011209
Subject(s) - amyotrophic lateral sclerosis , cohort , genetics , c9orf72 , disease , population , genome wide association study , tardbp , medicine , genetic association , biology , gene , bioinformatics , genotype , trinucleotide repeat expansion , sod1 , single nucleotide polymorphism , allele , environmental health
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.