Associated Papers
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
GiOPARK Project: The Genetic Study of Parkinson's Disease in the Croatian Population.
Rački V et al.
Genes, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 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
Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort.
Grassano M et al.
Neurology, 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
Wide phenotypic spectrum in axonal Charcot-Marie-Tooth neuropathy type 2 patients with KIF5A mutations.
Nam DE et al.
Genes & Genomics, 2018
KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis.
Simone M et al.
Frontiers in Neurology, 2018
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Rydzanicz M et al.
Clinical Genetics, 2017
A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.
Muglia M et al.
Journal of the Neurological Sciences, 2014
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
Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
Du K et al.
Clinical Neuropathology, 0