Associated Papers
Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
Pottier C et al.
Nature Communications, 2025
40280976 (PubMed )
Supplement: 41467_2025_59216_MOESM3_ESM.xlsx › SD23
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Next-generation sequencing of host genetics risk factors associated with COVID-19 severity and long-COVID in Colombian population.
Angulo-Aguado M et al.
Scientific Reports, 2024
38605121 (PubMed )
Supplement: 41598_2024_57982_MOESM2_ESM.xlsx › Supplementary_Table_13
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
Clinicopathologic correlations in a family with a TBK1 mutation presenting as primary progressive aphasia and primary lateral sclerosis.
Hirsch-Reinshagen V et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD.
Pottier C et al.
Acta Neuropathologica, 2019
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.
de Majo M et al.
Neurobiology of Aging, 2018
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