Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
I Gijselinck, S Van Mossevelde, J Van Der Zee… - Neurology, 2015 - AAN Enterprises
Objective: To assess the genetic contribution of TBK1, a gene implicated in amyotrophic
lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and …
lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and …
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts
I Le Ber, A De Septenville, S Millecamps… - Neurobiology of …, 2015 - Elsevier
Abstract TANK1-binding kinase 1 (TBK1) has been recently identified as a new amyotrophic
lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible …
lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible …
Association of mutations in TBK1 with sporadic and familial amyotrophic lateral sclerosis and frontotemporal dementia
A Freischmidt, K Müller, AC Ludolph… - JAMA …, 2017 - jamanetwork.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are related
neurodegenerative syndromes that occur sporadically or have been associated with mostly …
neurodegenerative syndromes that occur sporadically or have been associated with mostly …
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
J van der Zee, I Gijselinck, S Van Mossevelde… - Human …, 2017 - Wiley Online Library
We investigated the mutation spectrum of the TANK‐Binding Kinase 1 (TBK1) gene and its
associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 …
associated phenotypic spectrum by exonic resequencing of TBK1 in a cohort of 2,538 …
TBK1 is associated with ALS and ALS-FTD in Sardinian patients
Recently, mutations in the TANK-binding kinase 1 (TBK1) gene were identified as a cause
for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia …
for amyotrophic lateral sclerosis (ALS) with or without comorbid frontotemporal dementia …
Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort
S Van Mossevelde, J van der Zee, I Gijselinck… - Brain, 2016 - academic.oup.com
We identified in a cohort of patients with frontotemporal dementia (n= 481) or amyotrophic
lateral sclerosis (n= 147), 10 index patients carrying a TBK1 loss of function mutation …
lateral sclerosis (n= 147), 10 index patients carrying a TBK1 loss of function mutation …
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis
Mutations in the TBK1 gene were just recently identified to cause amyotrophic lateral
sclerosis (ALS), and their role in ALS in various populations remains unclear. The aim of this …
sclerosis (ALS), and their role in ALS in various populations remains unclear. The aim of this …
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative
syndrome hallmarked by adult-onset loss of motor neurons. We performed exome …
syndrome hallmarked by adult-onset loss of motor neurons. We performed exome …
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-
TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat …
TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat …
Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis
I Gijselinck, S Engelborghs, G Maes, I Cuijt… - Archives of …, 2010 - jamanetwork.com
Background Frontotemporal lobar degeneration (FTLD) is a neurodegenerative brain
disorder that can be accompanied by signs of amyotrophic lateral sclerosis (ALS). Objective …
disorder that can be accompanied by signs of amyotrophic lateral sclerosis (ALS). Objective …
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