Associated Papers
Unveiling a rare case: Novel TBK1 variant mimicking as multiple system atrophy-like phenotype.
Madhavi K et al.
Parkinsonism & Related Disorders, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Chatterjee M et al.
Nature Medicine, 2024
38890531 (PubMed )
Supplement: 41591_2024_2937_MOESM3_ESM.pdf
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
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
TBK1 mutations in Italian patients with amyotrophic lateral sclerosis: genetic and functional characterisation.
Pozzi L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2017
28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf
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
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