Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 2025
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
TBK1 p.Y153Qfs*9 variant may be associated with young-onset, rapidly progressive amyotrophic lateral sclerosis through a haploinsufficiency mechanism.
Fang SY et al.
Journal of the Chinese Medical Association : Jcma, 2024
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.
Zhao B et al.
European Journal of Neurology, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
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
Patient with ALS with a novel TBK1 mutation, widespread brain involvement, behaviour changes and metabolic dysfunction.
McCombe PA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
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
Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort.
Jiao B et al.
Translational Neurodegeneration, 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
TBK1: a new player in ALS linking autophagy and neuroinflammation.
Oakes JA et al.
Molecular Brain, 2017
Human TBK1: A Gatekeeper of Neuroinflammation.
Ahmad L et al.
Trends in Molecular Medicine, 2016
Mutational analysis of TBK1 in Taiwanese patients with amyotrophic lateral sclerosis.
Tsai PC et al.
Neurobiology of Aging, 2016