Associated Papers
Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.
Mitsutake A et al.
Annals of Clinical and Translational Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG58
Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype.
Mahale R et al.
Acta Neurologica Belgica, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Force generation of KIF1C is impaired by pathogenic mutations.
Siddiqui N et al.
Current Biology : Cb, 2022
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
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Caballero Oteyza A et al.
Neurology, 2014
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
Dor T et al.
Journal of Medical Genetics, 2014
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