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Genetic Risk of Axonal Neuropathy Following Infection
2024-10-06
genetic and genomic medicine
Title + abstract only
View on medRxiv
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BackgroundWhy some individuals experience severe neuropathy following infection is unknown. Nucleocytoplasmic trafficking (NCT) is an essential process in nucleated cells, and its disruption has been implicated in many neurodegenerative conditions including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. MethodsWe performed genomic and clinical studies in 24 individuals from 12 families with acute onset axonal neuropathy. Genetic variants were characterized by thermal stability...
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