Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
Khatoon F et al.
3 Biotech, 2022
Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.
Su WM et al.
Bmc Medicine, 2022
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
Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity.
Ye J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
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
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
28822984 (PubMed )
Supplement: jnnp-2017-316174supp001.pdf
TBK1: a new player in ALS linking autophagy and neuroinflammation.
Oakes JA et al.
Molecular Brain, 2017
28148298 (PubMed )
Supplement: 13041_2017_287_MOESM1_ESM.pdf
ALS: Recent Developments from Genetics Studies.
Therrien M et al.
Current Neurology and Neuroscience Reports, 2016
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C et al.
Acta Neuropathologica, 2015
Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.
Fingert JH et al.
Human Molecular Genetics, 2011
[Clinical statistics of myasthenia gravis, progressive muscular dystrophy and amyotrophic lateral sclerosis].
Unoya K
[kango Gijutsu] : [nursing Technique], 1973
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