Associated Papers
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.
Safka Brozkova D et al.
Human Genomics, 2026
Understanding speech and language in KIF1A-associated neurological disorder.
Morison LD et al.
European Journal of Human Genetics : Ejhg, 2026
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.
Rao L et al.
Biomolecules, 2025
Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.
Rao L et al.
Biorxiv : the Preprint Server for Biology, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
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-phenotype correlations in 18 European patients with heterozygous KIF1A variants: key considerations for assessing KIF1A variant causality.
Uhrova Meszarosova A et al.
Frontiers in Medicine, 2025
Characterizing human KIF1Bβ motor activity by single-molecule motility assays and Caenorhabditis elegans genetics.
Iguchi R et al.
Journal of Cell Science, 2024
Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A et al.
American Journal of Medical Genetics. Part A, 2024
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
Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.
Lin J et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
New cellular imaging-based method to distinguish the SPG4 subtype of hereditary spastic paraplegia.
Sardina F et al.
European Journal of Neurology, 2023
Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.
Chiba K et al.
Journal of Cell Science, 2023
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
Ikeda A et al.
Frontiers in Neurology, 2023
De novo mutations in KIF1A-associated neuronal disorder (KAND) dominant-negatively inhibit motor activity and axonal transport of synaptic vesicle precursors.
Anazawa Y et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia.
Santos M et al.
Cells, 2022
Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan MY et al.
Frontiers in Neurology, 2022
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.
Boyle L et al.
Hgg Advances, 2021
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
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE et al.
Bmc Neurology, 2020
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
Kurihara M et al.
Internal Medicine (tokyo, Japan), 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