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
Clinical Profile and Genetic Composition of Patients With Juvenile Parkinsonism From a Single Tertiary Care Center in India.
Farsana MK et al.
Journal of Movement Disorders, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 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
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 2025
Altered Mitochondrial Bioenergetics and Calcium Kinetics in Young-Onset PLA2G6 Parkinson's Disease iPSCs.
Musthafa T et al.
Journal of Neurochemistry, 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
Unveiling the role of iPLA2β in neurodegeneration: From molecular mechanisms to advanced therapies.
Liu J et al.
Pharmacological Research, 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
The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.
Holla VV et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
The role of the PLA2G6 gene in neurodegenerative diseases.
Deng X et al.
Ageing Research Reviews, 2023
Psychoradiological evaluation of PLA2G6 gene mutations: Adult-onset dystonia-parkinsonism case report.
Demir Unal E et al.
Parkinsonism & Related Disorders, 2022
Reply to: Juvenile PLA2G6-parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies.
Salles PA et al.
Journal of Parkinson's Disease, 2022
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.
Wan 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
Phospholipase iPLA2β averts ferroptosis by eliminating a redox lipid death signal.
Sun WY et al.
Nature Chemical Biology, 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
New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.
Toth-Bencsik R et al.
Frontiers in Genetics, 2021
Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.
Tan MMX et al.
Brain : a Journal of Neurology, 2019
Neurite Collapse and Altered ER Ca2+ Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation.
Korecka JA et al.
Stem Cell Reports, 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
Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.
Chen YJ et al.
Parkinsonism & Related Disorders, 2018
The structure of iPLA2β reveals dimeric active sites and suggests mechanisms of regulation and localization.
Malley KR et al.
Nature Communications, 2018
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.
Ozes B et al.
Clinical Genetics, 2017
Mitochondria: A Common Target for Genetic Mutations and Environmental Toxicants in Parkinson's Disease.
Helley MP et al.
Frontiers in Genetics, 2017
Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance.
Hernandez DG et al.
Journal of Neurochemistry, 2016
Impairment of PARK14-dependent Ca(2+) signalling is a novel determinant of Parkinson's disease.
Zhou Q et al.
Nature Communications, 2016
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.
Giri A et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 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
Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.
Kinghorn KJ et al.
Brain : a Journal of Neurology, 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
Genetics of Parkinson's disease: the yield.
Spatola M et al.
Parkinsonism & Related Disorders, 2014
Dystonic opisthotonus: a "red flag" for neurodegeneration with brain iron accumulation syndromes?
Stamelou M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
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