Associated Papers
Clinical and genetic characteristics of PLA2G6-related parkinsonism in Southwest China and a comprehensive literature review.
Cheng Y et al.
Journal of Medical Genetics, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
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
A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review.
Cai D et al.
Frontiers in Neurology, 2024
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ et al.
Orphanet Journal of Rare Diseases, 2023
Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.
Do MD et al.
Brain and Behavior, 2023
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.
Wan Y et al.
Frontiers in Neurology, 2022
Animal Models of Autosomal Recessive Parkinsonism.
Bastioli G et al.
Biomedicines, 2021
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
Parkinson's disease-associated iPLA2-VIA/PLA2G6 regulates neuronal functions and α-synuclein stability through membrane remodeling.
Mori A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
[PLA2G6 compound complicated mutation in an atypical neuroaxonal dystrophy pedigree].
Ma LM et al.
Zhonghua Yi Xue Za Zhi, 2019
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.
Schneider SA et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
Zhang P et al.
European Journal of Neurology, 2013
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.
Wu Y et al.
European Journal of Neurology, 2009
Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A et al.
Neurology, 2008
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV et al.
Nature Genetics, 2006