publication . Article . Other literature type . 2018

ALS Genes in the Genomic Era and their Implications for FTD

Hung Phuoc Nguyen; Christine Van Broeckhoven; Julie van der Zee;
Open Access English
  • Published: 01 Jun 2018 Journal: Trends in genetics (issn: 0168-9525, Copyright policy)
  • Country: Belgium
Abstract
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized genetically by a disproportionately large contribution of rare genetic variation. Driven by advances in massive parallel sequencing and applied on large patient–control cohorts, systematic identification of these rare variants that make up the genetic architecture of ALS became feasible. In this review paper, we present a comprehensive overview of recently proposed ALS genes that were identified based on rare genetic variants ( TBK1 , CHCHD10 , TUBA4A , CCNF , MATR3 , NEK1 , C21orf2 , ANXA11 , TIA1 ) and their potential relevance to frontotemporal dementia genetic etiology....
Subjects
free text keywords: Human medicine, Genetics, Computational biology, Massive parallel sequencing, Genetic variation, Genetic architecture, Amyotrophic lateral sclerosis, medicine.disease, medicine, Biology, Frontotemporal dementia, Disease, Mutation, medicine.disease_cause, Genomics
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