Associated Papers
Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.
Dulski J et al.
Hgg Advances, 2026
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
KIF5A variant in familial dystonia: A clinicogenetic study of a large Roma kindred.
Dulski J et al.
Parkinsonism & Related Disorders, 2025
KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis.
Manini A et al.
Annals of Clinical and Translational Neurology, 2025
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Genetic analysis of ERBB4 gene in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.
Shen D et al.
Frontiers in Aging Neuroscience, 2025
The ALS-associated KIF5A P986L variant is not pathogenic for Drosophila motoneurons.
Layalle S et al.
Scientific Reports, 2024
A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.
Carrington G et al.
The Journal of Biological Chemistry, 2024
Genomic and transcriptomic advances in amyotrophic lateral sclerosis.
Rizzuti M et al.
Ageing Research Reviews, 2023
Heterogeneous splicing patterns resulting from KIF5A variants associated with amyotrophic lateral sclerosis.
Pino MG et al.
Human Molecular Genetics, 2023
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Scaber J et al.
European Journal of Neurology, 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
Computational analysis of five neurodegenerative diseases reveals shared and specific genetic loci.
Maselli F et al.
Computational and Structural Biotechnology Journal, 2023
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
Multiple roles for the cytoskeleton in ALS.
Liu X et al.
Experimental Neurology, 2022
Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Kirola L et al.
Molecular Neurobiology, 2022
ALS-linked KIF5A ΔExon27 mutant causes neuronal toxicity through gain-of-function.
Pant DC et al.
Embo Reports, 2022
Functional characterisation of the amyotrophic lateral sclerosis risk locus GPX3/TNIP1.
Restuadi R et al.
Genome Medicine, 2022
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W et al.
Nature Genetics, 2021
Genotype-phenotype correlations of KIF5A stalk domain variants.
de Boer EMJ et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021
Genetic analysis of ALS cases in the isolated island population of Malta.
Borg R et al.
European Journal of Human Genetics : Ejhg, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Update on amyotrophic lateral sclerosis genetics.
Brenner D et al.
Current Opinion in Neurology, 2019
Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.
Forsberg K et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A et al.
Neuron, 2018
Hot-spot KIF5A mutations cause familial ALS.
Brenner D et al.
Brain : a Journal of Neurology, 2018