Associated Papers
Unveiling a rare case: Novel TBK1 variant mimicking as multiple system atrophy-like phenotype.
Madhavi K et al.
Parkinsonism & Related Disorders, 2025
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
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
A Novel TBK1 Variant (Lys694del) Presenting With Corticobasal Syndrome in a Family With FTD-ALS Spectrum Diseases: Case Report.
Seibert K et al.
Frontiers in Neurology, 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
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
Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.
Caroppo P et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2015
TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.
Le Ber I et al.
Neurobiology of Aging, 2015
Select a paper to view details