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

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 ge...

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Publicado en:Neurology
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2021
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7905787/
https://ncbi.nlm.nih.gov/pubmed/33208543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000011209
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