Associated Papers
KIF1A-associated neurological disorders: therapeutic opportunities and challenges.
Lin Q et al.
European Journal of Human Genetics : Ejhg, 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
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 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
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease.
Nair A et al.
Pharmaceuticals (basel, Switzerland), 2023
Hereditary Spastic Paraplegia: An Update.
Meyyazhagan A et al.
International Journal of Molecular Sciences, 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
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
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE et al.
Bmc Neurology, 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
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
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
Tomaselli PJ et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Multigeneration family with dominant SPG30 hereditary spastic paraplegia.
Roda RH et al.
Annals of Clinical and Translational Neurology, 2017
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
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
The KIF1A homolog Unc-104 is important for spontaneous release, postsynaptic density maturation and perisynaptic scaffold organization.
Zhang YV et al.
Scientific Reports, 2017
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Iqbal Z et al.
Plos One, 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
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
Citterio A et al.
Journal of Neurology, 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