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
Generation of induced pluripotent stem cells (NIMHi027-A) from a Parkinson's disease patient harbouring a homozygous missense mutation for PLA2G6 gene (chr22:g.38112558C > T).
Banerjee R et al.
Stem Cell Research, 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
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
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
An Interesting Case of Young-Onset Parkinsonism Due to PLA2G6 Gene Mutation-Related Dystonia Parkinsonism.
Bhowmik S et al.
Neurology India, 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
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
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
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
Corrigendum to "Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A)" [Stem Cell Res. 67 (2023) 103033].
Gopurappilly R et al.
Stem Cell Research, 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
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 Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review.
Koros C et al.
Genes, 2023
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
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.
Sait H et al.
Neurogenetics, 2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E et al.
Neurology. Genetics, 2023
Generation of feeder-independent transgene-free iPSC lines from a young-onset Parkinson's disease (YOPD) patient with a homozygous PLA2G6: c.2222G>A (p. Arg741Gln) mutation (NCBSi003-A) and unaffected heterozygous parent (NCBSi004-A).
Gopurappilly R et al.
Stem Cell Research, 2023
Molecular genetics of neuropsychiatric illness: some musings.
Janardhanan M et al.
Frontiers in Genetics, 2023
Targeted Sequencing Detects Variants That May Contribute to the Risk of Neuropsychiatric Disorders.
Mahadevan J et al.
Indian Journal of Psychological Medicine, 2022
Utility of Clinical Exome Sequencing in Dystonia: A Single-Center Study From India.
Holla VV et al.
Journal of Movement Disorders, 2022
Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review.
Vela-Desojo L et al.
Journal of Clinical Medicine, 2022
Early Compensatory Mechanisms in LRRK2 Mutation Carriers.
Palermo G et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Juvenile PLA2G6-Parkinsonism Due to Indian 'Asian' p.R741Q Mutation, and Response to STN DBS.
Ravat P et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
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
PLA2G6 mutations cause motor dysfunction phenotypes of young-onset dystonia-parkinsonism type 14 and can be relieved by DHA treatment in animal models.
Yeh TH et al.
Experimental Neurology, 2021
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.
Bhardwaj NK et al.
Brain & Development, 2021
Homozygous PLA2G6 (PARK 14) gene mutation associated neuropsychiatric phenotypes from southern India.
Sakhardande KA et al.
Parkinsonism & Related Disorders, 2021
Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy.
McMillan HJ et al.
Clinical Genetics, 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
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A et al.
Human Mutation, 2020
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