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
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG10
Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.
Cozzi M et al.
Cell Death & Disease, 2024
39333504 (PubMed )
Supplement: 41419_2024_7096_MOESM2_ESM.docx
A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G et al.
The Journal of Biological Chemistry, 2024
38309508 (PubMed )
Supplement: mmc1.pdf
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
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
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Rydzanicz M et al.
Clinical Genetics, 2017
Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.
Martinuzzi A et al.
Plos One, 2016
27077743 (PubMed )
Supplement: pone.0153283.s002.pdf
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
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