Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.D167del1
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TBK1

NM_013254.4:p.D167del1

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

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_7_VUS

Prospects for gene replacement therapies in amyotrophic lateral sclerosis.

Giovannelli I et al.

Nature Reviews. Neurology, 2023

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

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

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

Human TBK1: A Gatekeeper of Neuroinflammation.

Ahmad L et al.

Trends in Molecular Medicine, 2016

Clinical features of TBK1 carriers compared with C9orf72, GRN and non-mutation carriers in a Belgian cohort.

Van Mossevelde S et al.

Brain : a Journal of Neurology, 2016

Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.

Gijselinck I et al.

Neurology, 2015

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