Associated Papers
Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro.
Zuccaro MV et al.
Nature Communications, 2026
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Novel KIF1A Variant in a Patient with Cerebellar Atrophy and Ataxia: A Case Report.
Akkus S et al.
Cerebellum (london, England), 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
Vesicular trafficking and cell-cell communication in neurodevelopment and neurodegeneration.
Amin S et al.
Frontiers in Cell and Developmental Biology, 2025
A machine learning enhanced EMS mutagenesis probability map for efficient identification of causal mutations in Caenorhabditis elegans.
Guo Z et al.
Plos Genetics, 2024
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.
Parobek CM et al.
Clinical Genetics, 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
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
Characterization of the disease-causing mechanism of KIF3B mutations from ciliopathy patients.
Adams JM et al.
Frontiers in Molecular Biosciences, 2024
Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A.
Nakamura K et al.
Internal Medicine (tokyo, Japan), 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
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.
Nair A et al.
Pharmaceuticals (basel, Switzerland), 2023
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A.
Isobe K et al.
Brain & Development, 2022
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD et al.
Human Genomics, 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
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
Aguilera C et al.
Frontiers in Neuroscience, 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
Usefulness of exome sequencing in the study of spastic paraparesis and cerebellar atrophy: De novo mutation of the KIF1A gene, a new hope in prognosis.
Urtiaga Valle S et al.
Neurologia, 2020
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Nemani T et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.
Van Beusichem AE et al.
Neuropediatrics, 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
A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity.
Guo Y et al.
Frontiers in Genetics, 2020
Disease-associated mutations hyperactivate KIF1A motility and anterograde axonal transport of synaptic vesicle precursors.
Chiba K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex.
Samanta D et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 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
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
Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation.
Raffa L et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2017
Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations.
Li L et al.
Scientific Reports, 2017
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 dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
Langlois S et al.
European Journal of Human Genetics : Ejhg, 2016
De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
Ohba C et al.
Journal of Human Genetics, 2015
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
Ylikallio E et al.
European Journal of Human Genetics : Ejhg, 2015
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S et al.
Annals of Clinical and Translational Neurology, 2015
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
Volk A et al.
Molecular Syndromology, 2015
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR et al.
Human Mutation, 2015