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
Pathogenic KIF1A R350 Variants Disrupt A Conserved Kinesin-Tubulin Salt Bridge.
Shatarupa A et al.
Biorxiv : the Preprint Server for Biology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG30
Human papillomavirus integration perspective in small cell cervical carcinoma.
Wang X et al.
Nature Communications, 2022
36216793 (PubMed )
Supplement: 41467_2022_33359_MOESM22_ESM.xlsx › Supplementary_Data_19
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD et al.
Journal of Neurology, 2022
The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.
Magistri M et al.
Cancer Research Communications, 2021
35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g
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
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Montenegro-Garreaud X et al.
Human Mutation, 2020
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2020
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore A et al.
Frontiers in Neurology, 2018
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