Associated Papers
Intrafamilial Phenotypic Variation in Taiwanese Patients with Hereditary Spastic Paraplegia and Charcot-Marie-Tooth Disease Due to KIF5A Mutations: A Cross-Sectional Observational Study.
Lin PY et al.
Acta Neurologica Taiwanica, 2026
Clinical and functional analysis of KIF5A related spastic paraplegia type 10.
Tian W et al.
Parkinsonism & Related Disorders, 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
A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G et al.
The Journal of Biological Chemistry, 2024
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
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
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
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
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
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/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
Tessa A et al.
Journal of Neurology, 2008
Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
Ebbing B et al.
Human Molecular Genetics, 2008
Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.
Blair MA et al.
Neurogenetics, 2006
Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias.
Soderblom C et al.
Pharmacology & Therapeutics, 2006
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.
Fichera M et al.
Neurology, 2004
A novel KIF5a mutation identified in two-family members with spastic paraplegia type 10.
Oliveira R et al.
Revue Neurologique, 0