Associated Papers
Association of Novel Pathogenic Variant (p. Ile366Asn) in PLA2G6 Gene with Infantile Neuroaxonal Dystrophy.
Cheema AN et al.
International Journal of Molecular Sciences, 2025
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Case Report: A case of PLA2G6 gene-related early-onset Parkinson's disease and review of literature.
Gao L et al.
Frontiers in Neuroscience, 2022
Pluripotent Stem Cell Derived Neurons as In Vitro Models for Studying Autosomal Recessive Parkinson's Disease (ARPD): PLA2G6 and Other Gene Loci.
Gopurappilly R
Advances in Experimental Medicine and Biology, 2021
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
Chu YT et al.
Bmc Neurology, 2020
Early-Onset Parkinson's Disease Caused by PLA2G6 Compound Heterozygous Mutation, a Case Report and Literature Review.
Shen T et al.
Frontiers in Neurology, 2019
Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease.
Shen T et al.
Scientific Reports, 2018
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.
Yamashita C et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2017
Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease.
Zhou Q et al.
Nature Communications, 2016
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
Kapoor S et al.
Plos One, 2016
A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.
Malaguti MC et al.
Parkinsonism & Related Disorders, 2015
PLA2G6-associated Dystonia-Parkinsonism: Case Report and Literature Review.
Karkheiran S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.
Yamamoto T et al.
Human Genome Variation, 2015
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.
Yoshino H et al.
Neurology, 2010