Associated Papers
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.
Dulski J et al.
Hgg Advances, 2026
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
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
Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.
Schiavoni S et al.
Developmental Medicine and Child Neurology, 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
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E et al.
Annals of Clinical and Translational Neurology, 2020
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2018
Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.
Jia X et al.
Annals of Neurology, 2018
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A et al.
Neuron, 2018
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Rydzanicz M et al.
Clinical Genetics, 2017
Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
Liu YT et al.
Neurology, 2014
Kar3Vik1 mechanochemistry is inhibited by mutation or deletion of the C terminus of the Vik1 subunit.
Joshi M et al.
The Journal of Biological Chemistry, 2013
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
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
Ebbing B et al.
Human Molecular Genetics, 2008
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
Lo Giudice M et al.
Archives of Neurology, 2006