Varaico: Literature-Extracted Genetic Variants

Gene:TBK1
Variant:p.I305T
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TBK1

NM_013254.4:p.I305T

Associated Papers

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

Human TBK1: A Gatekeeper of Neuroinflammation.

Ahmad L et al.

Trends in Molecular Medicine, 2016

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia.

Freischmidt A et al.

Nature Neuroscience, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."