Associated Papers
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Clinicopathologic Characterization of 2 Individuals With TBK1 Variants-1 Novel Splice Variant, 2 Proteinopathies: A Case Series.
Domoto-Reilly K et al.
Neurology. Genetics, 2024
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 2023
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.
Zhao B et al.
European Journal of Neurology, 2023
Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.
Arshad F et al.
Acta Neurologica Scandinavica, 2022
Variable clinical phenotype in TBK1 mutations: case report of a novel mutation causing primary progressive aphasia and review of the literature.
Swift IJ et al.
Neurobiology of Aging, 2021
Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis.
Weinreich M et al.
Neuropathology and Applied Neurobiology, 2020
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C et al.
Acta Neuropathologica, 2019
Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.
Yu H et al.
Molecular Genetics & Genomic Medicine, 2019
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M et al.
Neurobiology of Aging, 2018
ALS Genes in the Genomic Era and their Implications for FTD.
Nguyen HP et al.
Trends in Genetics : Tig, 2018
OPTN p.Met468Arg and ATXN2 intermediate length polyQ extension in families with C9orf72 mediated amyotrophic lateral sclerosis and frontotemporal dementia.
Farhan SMK et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.
Markovinovic A et al.
Progress in Neurobiology, 2017
TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
van der Zee J et al.
Human Mutation, 2017
TBK1: a new player in ALS linking autophagy and neuroinflammation.
Oakes JA et al.
Molecular Brain, 2017
ALS: Recent Developments from Genetics Studies.
Therrien M et al.
Current Neurology and Neuroscience Reports, 2016
Human TBK1: A Gatekeeper of Neuroinflammation.
Ahmad L et al.
Trends in Molecular Medicine, 2016
New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.
Sabatelli M et al.
Brain Pathology (zurich, Switzerland), 2016
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C et al.
Acta Neuropathologica, 2015