Associated Papers
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG30
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
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
Aguilera C et al.
Frontiers in Neuroscience, 2021
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Kaur S et al.
Human Mutation, 2020
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