Associated Papers
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
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
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
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Sait H et al.
Neurogenetics, 2023
Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14).
Lin G et al.
Elife, 2023
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
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
Phospholipase iPLA2β averts ferroptosis by eliminating a redox lipid death signal.
Sun WY et al.
Nature Chemical Biology, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
The natural history of infantile neuroaxonal dystrophy.
Altuame FD et al.
Orphanet Journal of Rare Diseases, 2020
Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.
Chu YT et al.
Bmc Neurology, 2020
Novel PLA2G6 mutations and clinical heterogeneity in Chinese cases with phospholipase A2-associated neurodegeneration.
Chen YJ et al.
Parkinsonism & Related Disorders, 2018
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
Köroğlu Ç et al.
Journal of Medical Genetics, 2013