Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M 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
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
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
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
Khatoon F et al.
3 Biotech, 2022
Investigating the Genetic Profile of the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia (ALS-FTD) Continuum in Patients of Diverse Race, Ethnicity and Ancestry.
Mesaros M et al.
Genes, 2021
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis.
McCann EP et al.
Journal of Medical Genetics, 2020
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
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
Association of the TBK1 mutation p.Ile334Thr with frontotemporal dementia and literature review.
Yu H et al.
Molecular Genetics & Genomic Medicine, 2019
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Verheijen J et al.
Neurobiology of Aging, 2018
Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.
Chia R et al.
The Lancet. Neurology, 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 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
Human TBK1: A Gatekeeper of Neuroinflammation.
Ahmad L et al.
Trends in Molecular Medicine, 2016
A Bioinformatics Approach to Prioritize Single Nucleotide Polymorphisms in TLRs Signaling Pathway Genes.
Alipoor B et al.
International Journal of Molecular and Cellular Medicine, 2016
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.
Gijselinck I et al.
Neurology, 2015