Associated Papers
Understanding speech and language in KIF1A-associated neurological disorder.
Morison LD et al.
European Journal of Human Genetics : Ejhg, 2026
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
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Long-term clinical observation of patients with heterozygous KIF1A variants.
Kawashima A et al.
American Journal of Medical Genetics. Part A, 2024
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.
Paprocka J et al.
Genes, 2023
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.
Nair A et al.
Pharmaceuticals (basel, Switzerland), 2023
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.
Martínez-Rubio D et al.
International Journal of Molecular Sciences, 2022
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
Vecchia SD et al.
Journal of Neurology, 2022
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
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
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene.
Van Beusichem AE et al.
Neuropediatrics, 2020
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 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
Targeted resequencing identifies genes with recurrent variation in cerebral palsy.
van Eyk CL et al.
Npj Genomic Medicine, 2019
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A et al.
Human Molecular Genetics, 2018
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
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 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
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
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
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