Associated Papers
TBK1 variants in Chinese patients with amyotrophic lateral sclerosis: Genetic analysis and clinical features.
Zhao B et al.
European Journal of Neurology, 2023
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
Khatoon F et al.
3 Biotech, 2022
Don't forget to be picky - selective autophagy of protein aggregates in neurodegenerative diseases.
Simonsen A et al.
Current Opinion in Cell Biology, 2022
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
30196251 (PubMed )
Supplement: jnnp-2018-318823supp001.pdf
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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