Associated Papers
Pathogenic KIF1A variants differentially disrupt axonal trafficking and impede synaptic development.
Aiken J et al.
Biorxiv : the Preprint Server for Biology, 2026
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S4
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Kaur S et al.
Human Mutation, 2020
Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Wang J et al.
Molecular Genetics & Genomic Medicine, 2019
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