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 …

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 …

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 …

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 …

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

G Borghero, M Pugliatti, F Marrosu, MG Marrosu… - Neurobiology of …, 2016 - Elsevier
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 …

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 …

Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis

PC Tsai, YC Liu, KP Lin, YT Liu, YC Liao, CT Hsiao… - Neurobiology of …, 2016 - Elsevier
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 …

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

A Freischmidt, T Wieland, B Richter, W Ruf… - Nature …, 2015 - nature.com
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative
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

C Pottier, KF Bieniek, NC Finch, M van de Vorst… - Acta …, 2015 - Springer
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-
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 …