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P. Van Damme

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Open access Jun 2026

A rare missense variant impacting NEK1 kinase function is associated with ALS

Findings provide strong genetic and functional evidence for a disease-causing role of NEK1 kinase disruption in NEK1-ALS and provide immediate diagnostic and therapeutic implications, particularly for the functional interpretation of missense variants of uncertain significance and the development of targeted treatment strategies.

David Brenner, Anna Ponomarenko, Iris Petrut et al. · 1 citation