Original paper
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Abstract
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of 252 familial ALS (fALS) and 827 control individuals. Gene-based rare variant analysis identified an exome-wide significant enrichment of eight loss-of-function (LoF) mutations in TBK1 (encoding TANK-binding kinase 1) in 13 fALS pedigrees. No enrichment of LoF mutations was...
Paper Details
Title
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Published Date
Mar 24, 2015
Journal
Volume
18
Issue
5
Pages
631 - 636
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Notes
History