Associated Papers
Rare but Relevant? Assessing Variants in Dystonia-Linked Genes in Parkinson's Disease.
Lange LM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
Deficiency of PLA2G6 Induces Ferroptosis in Dopaminergic Neurons and Contributes to Parkinson's Disease Pathogenesis via Disruption of PRDX6/FTH1/GPX4 Axis.
Li T et al.
Molecular Neurobiology, 2025
Rescue Right Pallidotomy and Left Thalamotomy in a patient with PLA2G6-associated Refractory Status Dystonicus and Tremor.
Farsana MK et al.
Journal of Movement Disorders, 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
Rare but Relevant: Assessing Variants in Dystonia-linked Genes in Parkinson's Disease.
Lange LM et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.
Okubo S et al.
Journal of Human Genetics, 2025
Mitochondrial Dysfunction in Genetic and Non-Genetic Parkinson's Disease.
Lucchesi M et al.
International Journal of Molecular Sciences, 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
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
4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.
Qin Y et al.
Endokrynologia Polska, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
Comprehensive variant analysis of phospholipase A2 superfamily genes in large Chinese Parkinson' s disease cohorts.
Liu J et al.
Mechanisms of Ageing and Development, 2024
Unveiling the role of iPLA2β in neurodegeneration: From molecular mechanisms to advanced therapies.
Liu J et al.
Pharmacological Research, 2024
A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report.
Lyu Y et al.
Translational Pediatrics, 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
Genetic Movement Disorders Commonly Seen in Asians.
Jagota P et al.
Movement Disorders Clinical Practice, 2023
Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14).
Lin G et al.
Elife, 2023
Motor and non-motor responses of STN DBS in early onset PLA2G6 related Parkinsonism with compound heterozygous mutation from China.
Chen S et al.
Parkinsonism & Related Disorders, 2023
Molecular genetics of neuropsychiatric illness: some musings.
Janardhanan M et al.
Frontiers in Genetics, 2023
A genetic analysis of Chinese patients with early-onset Parkinson' s disease.
Liu Q et al.
Neuroscience Letters, 2022
The mutation spectrum of Parkinson-disease-related genes in early-onset Parkinson's disease in ethnic Chinese.
Chen YP et al.
European Journal of Neurology, 2022
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China.
Hu C et al.
Genes, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
A case of neurodegenerative disorder caused by PLA2G6 compound heterozygous pathogenic variant and SCA17 pathogenic variant.
Hao X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Genetic Analysis of Patients With Early-Onset Parkinson's Disease in Eastern China.
Hua P et al.
Frontiers in Aging Neuroscience, 2022
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.
Wan Y et al.
Frontiers in Neurology, 2022
Serum metabolomic characterization of PLA2G6-associated dystonia-parkinsonism: A case-control biomarker study.
Chen C et al.
Frontiers in Neuroscience, 2022
Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan MY et al.
Frontiers in Neurology, 2022