Associated Papers
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG30
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
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
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case.
Yoshikawa K et al.
Eneurologicalsci, 2019
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
31616253 (PubMed )
Supplement: Table_1.docx
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