Associated Papers
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience.
Besen S et al.
Children (basel, Switzerland), 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
Ophthalmic Findings in the KIF1A-Associated Neurologic Disorder (KAND).
Abdelhakim AH et al.
American Journal of Ophthalmology, 2024
Evaluation of genetic risk of apparently balanced chromosomal rearrangement carriers by breakpoint characterization.
Xiao Y et al.
Journal of Assisted Reproduction and Genetics, 2024
Cryo-EM Unveils the Processivity Mechanism of Kinesin KIF1A and the Impact of its Pathogenic Variant P305L.
Benoit MPMH et al.
Biorxiv : the Preprint Server for Biology, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.
Nair A et al.
Pharmaceuticals (basel, Switzerland), 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
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F et al.
Journal of Medical Genetics, 2021
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
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
Breaking Boundaries in the Brain-Advances in Editing Tools for Neurogenetic Disorders.
Coorey BA et al.
Frontiers in Genome Editing, 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
Generation of a human induced pluripotent stem cell line (SDUBMSi001-A) from a hereditary spastic paraplegia patient carrying kif1a c.773C>T missense mutation.
Xiaojing W et al.
Stem Cell Research, 2020
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M et al.
European Journal of Human Genetics : Ejhg, 2020
A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.
Guo Y et al.
Frontiers in Genetics, 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
Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.
Cheon CK et al.
Scientific Reports, 2017