Associated Papers
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.
Dulski J et al.
Hgg Advances, 2026
Clinical and functional analysis of KIF5A related spastic paraplegia type 10.
Tian W et al.
Parkinsonism & Related Disorders, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 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
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
Cozzi M et al.
Cell Death & Disease, 2024
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M et al.
Neurogenetics, 2024
A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G et al.
The Journal of Biological Chemistry, 2024
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Computational study of the motor neuron protein KIF5A to identify nsSNPs, bioactive compounds, and its key regulators.
Kumar R et al.
Frontiers in Genetics, 2023
Genotype-phenotype correlations of KIF5A stalk domain variants.
de Boer EMJ et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
Naruse H et al.
Neurogenetics, 2021
Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A).
Lee H et al.
Journal of Clinical Neurology (seoul, Korea), 2020
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.
He J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2020
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A et al.
Neuron, 2018
Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.
Nam DE et al.
Genes & Genomics, 2018
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Rydzanicz M et al.
Clinical Genetics, 2017
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln).
Jerath NU et al.
Case Reports in Genetics, 2015
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Liu YT et al.
Neurology, 2014
Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.
Kawaguchi K
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2013
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
Crimella C et al.
Clinical Genetics, 2012
A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
Musumeci O et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2011
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
Goizet C et al.
Human Mutation, 2009
A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10.
Oliveira R et al.
Revue Neurologique, 0