Associated Papers
Understanding speech and language in KIF1A-associated neurological disorder.
Morison LD et al.
European Journal of Human Genetics : Ejhg, 2026
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 2025
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 2025
Allele-specific conformational rescue of KIF1A T99M by genetic suppressors in a C. elegans model of KIF1A-associated neurological disorder.
Chen Z et al.
Journal of Cell Science, 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
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Lecca M et al.
Clinical Genetics, 2024
Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.
Xiong GJ et al.
The Journal of Cell Biology, 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
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
Abnormalities of the corpus callosum. Can prenatal imaging predict the genetic status? Correlations between imaging phenotype and genotype.
Nguyen T et al.
Prenatal Diagnosis, 2023
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J et al.
Genes, 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
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders.
Nicita F et al.
Journal of Medical 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
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
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.
Heide S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Kaur S et al.
Human Mutation, 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
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
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL et al.
Npj Genomic Medicine, 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
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
The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation.
Zhang YV et al.
Frontiers in Cellular Neuroscience, 2016
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
Citterio A et al.
Journal of Neurology, 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