Associated Papers
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
Inborn Errors of Immunity Predisposing to Herpes Simplex Virus Infections of the Central Nervous System.
Skouboe MK et al.
Pathogens (basel, Switzerland), 2023
Toll-Like Receptor Signaling in the Establishment and Function of the Immune System.
Aluri J et al.
Cells, 2021
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.
Elhabyan A et al.
Virus Research, 2020
Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort.
Verheijen J et al.
Neurobiology of Aging, 2018
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
Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.
Mørk N et al.
Genes and Immunity, 2015
TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.
Lim HK et al.
Neurology, 2014
Immune diseases caused by mutations in kinases and components of the ubiquitin system.
Cohen P
Nature Immunology, 2014
Toll-like receptors' pathway disturbances are associated with increased susceptibility to infections in humans.
Frazão JB et al.
Archivum Immunologiae Et Therapiae Experimentalis, 2013
Human primary immunodeficiencies causing defects in innate immunity.
Wong T et al.
Current Opinion in Allergy and Clinical Immunology, 2013
Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood.
Herman M et al.
The Journal of Experimental Medicine, 2012
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