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
Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.
Sine K et al.
Frontiers in Human Neuroscience, 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
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
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