Associated Papers
Frequent De Novo Mutations in Korean Patients With Charcot-Marie-Tooth Disease.
Lee AJ et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 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
Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.
Carrasco Salas P et al.
The International Journal of Neuroscience, 2022
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J et al.
Bmc Neurology, 2022
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
A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia.
Qiu Y et al.
Annals of Clinical and Translational Neurology, 2018
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
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
Morais S et al.
European Journal of Human Genetics : Ejhg, 2017
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
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
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
Tessa A et al.
Journal of Neurology, 2008
Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy.
Cuchanski M et al.
Case Reports in Neurology, 0