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
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
FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALS.
Zhou B et al.
Molecular Neurobiology, 2022
Frustration analysis of TBK1 missense mutations reported in ALS/FTD and cancer patients.
Khatoon F et al.
3 Biotech, 2022
Genetics of frontotemporal dementia in China.
Jiang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
The Frequency of Genetic Mutations Associated With Behavioral Variant Frontotemporal Dementia in Chinese Han Patients.
Liu L et al.
Frontiers in Aging Neuroscience, 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
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
Screening of the TBK1 gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin.
Shu S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 0
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