Associated Papers
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
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Ghafoor S et al.
The International Journal of Neuroscience, 2024
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
Pathogenic mutations in the kinesin-3 motor KIF1A diminish force generation and movement through allosteric mechanisms.
Budaitis BG et al.
The Journal of Cell Biology, 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
Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.
Gabrych DR et al.
Frontiers in Cellular Neuroscience, 2019
Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.
Krenn M et al.
European Journal of Neurology, 2017
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Ohba C et al.
Journal of Human Genetics, 2015
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