Associated Papers
An update on the monogenic causes of Parkinson's disease: Impact on patient stratification and personalised medicine.
Asmi S et al.
Ageing Research Reviews, 2026
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.
Menicucci L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
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
Adult-Onset PLA2G6-Associated Neurodegeneration (PLAN): A Clinical, Imaging and Genetic Profile Review.
Mahale R et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review.
Rodriguez-Antiguedad J et al.
International Journal of Molecular Sciences, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J 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
Dramatic improvement of a rare patient with PARK-14 linked young-onset parkinsonism after STN-DBS therapy.
Onder H et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
The role of the PLA2G6 gene in neurodegenerative diseases.
Deng X et al.
Ageing Research Reviews, 2023
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
Genome-Wide Polygenic Score Predicts Large Number of High Risk Individuals in Monogenic Undiagnosed Young Onset Parkinson's Disease Patients from India.
Kukkle PL et al.
Advanced Biology, 2022
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.
Zou Y et al.
Frontiers in Neurology, 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
Animal Models of Autosomal Recessive Parkinsonism.
Bastioli G et al.
Biomedicines, 2021
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 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
PLA2G6-related parkinsonism presenting as adolescent behavior.
Kamel WA et al.
Acta Neurologica Belgica, 2019
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 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.
Sánchez E et al.
Molecular Neurobiology, 2018
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
PARK14 PLA2G6 mutants are defective in preventing rotenone-induced mitochondrial dysfunction, ROS generation and activation of mitochondrial apoptotic pathway.
Chiu CC et al.
Oncotarget, 2017
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
Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity.
Kim YJ et al.
Parkinsonism & Related Disorders, 2015
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
Genetics of Parkinson's disease: the yield.
Spatola M et al.
Parkinsonism & Related Disorders, 2014
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.
Paisán-Ruiz C et al.
Neurobiology of Aging, 2012
Molecular pathogenesis of Parkinson's disease: update.
Saiki S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.
Lu CS et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012
The PLA2G6 gene in early-onset Parkinson's disease.
Kauther KM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Catalytic function of PLA2G6 is impaired by mutations associated with infantile neuroaxonal dystrophy but not dystonia-parkinsonism.
Engel LA et al.
Plos One, 2010
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations.
Paisán-Ruiz C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
Sina F et al.
European Journal of Neurology, 2009
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV et al.
Nature Genetics, 2006
Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population.
Sheth H et al.
Neurology India, 0