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
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3
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
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Novarino G et al.
Science (new York, N.y.), 2014
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