PLA2G6 Associated Neurodegeneration (PLAN): similar variant, divergent phenotype.

Claval Hypertrophy with Persistent Diffusion Restriction in PLA2G6-Associated Neurodegeneration.

Adult-Onset PLA2G6-Associated Parkinsonism With Claval Hypertrophy: A Rare Radiological-Genetic Association.

Expanding the Phenotypic and Radiological Spectrum of PLA2G6-Associated Neurodegeneration.

GABAergic neurons are a key cell type in a Drosophila model of PARK14/PLA2G6-associated neurodegeneration.

Decanoic acid extends lifespan and modulates metabolism in models of PLA2G6-associated neurodegeneration.

Prospective 5-year natural history study of infantile PLA2G6-associated neurodegeneration.

Prospective 5-year natural history study of infantile PLA2G6-associated neurodegeneration.

Reviewer Comment on Mahale et al. "Adult-onset PLA2G6-Associated Neurodegeneration (PLAN): A clinical, imaging and genetic profile review".

Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.

Deficiency of PLA2G6 Induces Ferroptosis in Dopaminergic Neurons and Contributes to Parkinson's Disease Pathogenesis via Disruption of PRDX6/FTH1/GPX4 Axis.

Infantile neuroaxonal dystrophy: Molecular mechanisms and pathogenesis of PLA2G6-associated neurodegeneration.

Adult-Onset PLA2G6-Associated Neurodegeneration (PLAN): A Clinical, Imaging and Genetic Profile Review.

Neurodegeneration with Brain Iron Accumulation.

Elevated serum autotaxin levels and multiple system atrophy-like presentation in a patient with PLA2G6-associated neurodegeneration.

Consensus Clinical Management Guideline for PLA2G6-Associated Neurodegeneration (PLAN).

PLA2G6-associated Neurodegeneration: A Rare Case Report of Dystonia-Parkinsonism Phenotype with a Novel Genotypic Variant.

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.

Metabolic alterations in fibroblasts of patients presenting with the MPAN subtype of neurodegeneration with brain iron accumulation (NBIA).

Metabolic impairments in neurodegeneration with brain iron accumulation.

The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.

Genetic Targets and Applications of Iron Chelators for Neurodegeneration with Brain Iron Accumulation.

Unveiling the role of iPLA2β in neurodegeneration: From molecular mechanisms to advanced therapies.

Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.

A systematic analysis of genotype-phenotype associations with PLA2G6.

The role of the PLA2G6 gene in neurodegenerative diseases.

Susceptibility-Weighted Imaging Reveals Subcortical Iron Deposition in PLA2G6-associated Neurodegeneration: The "Double Cortex Sign".

Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families.

PLA2G6-Associated Neurodegeneration: A Rare Case Report of Neurodegeneration with Brain Iron Accumulation in Children.

Vicious cycle of lipid peroxidation and iron accumulation in neurodegeneration.

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.

Audiological Findings in Children with PLA2G6-Associated Neurodegeneration.

Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.

Vitamin E prevents lipid peroxidation and iron accumulation in PLA2G6-Associated Neurodegeneration.

Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.

iPLA2-VIA is required for healthy aging of neurons, muscle, and the female germline in Drosophila melanogaster.

Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.

Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.

Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India.

Widening the MRI Findings of PLA2G6-Associated Neurodegeneration.

New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family.

Generation of three human iPSC lines from PLAN (PLA2G6-associated neurodegeneration) patients.

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.

A Case of PLA2G6-Associated Neurodegeneration with Frequent Myoclonus And Generalized Onset Tonic-Clonic Seizures: Successful Treatment with Zonisamide.

The infantile neuroaxonal dystrophy rating scale (INAD-RS).

The natural history of infantile neuroaxonal dystrophy.

Genotype-phenotype correlations of adult-onset PLA2G6-associated Neurodegeneration: case series and literature review.

Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison.

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

Generation of induced pluripotent stem cells from a young-onset Parkinson's disease patient carrying the compound heterozygous PLA2G6 p.D331Y/p.M358IfsX mutations.

Impaired iPLA2β activity affects iron uptake and storage without iron accumulation: An in vitro study excluding decreased iPLA2β activity as the cause of iron deposition in PLAN.

PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

Aripiprazole in a Patient of PLA2G6-Associated Neurodegeneration With Psychosis.

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Oculogyric crises in PLA2G6 associated neurodegeneration.

Mutations in the Drosophila homolog of human PLA2G6 give rise to age-dependent loss of psychomotor activity and neurodegeneration.

Pla2g6 Deficiency in Zebrafish Leads to Dopaminergic Cell Death, Axonal Degeneration, Increased β-Synuclein Expression, and Defects in Brain Functions and Pathways.

PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia.

Twin-sisters with PLA2G6-associated neurodegeneration due to paternal isodisomy of the chromosome 22 following in vitro fertilization.

Expanded phenotype and hippocampal involvement in a novel compound heterozygosity of adult PLA2G6 associated neurodegeneration (PARK14).

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis.

PLA2G6 -Associated Neurodegeneration: Report of a Novel Mutation in Two Siblings with Strikingly Different Clinical Presentation.

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

Child Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.

Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation.

PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.

High expression of α-synuclein in damaged mitochondria with PLA2G6 dysfunction.

Early Ataxia and Subsequent Parkinsonism: PLA2G6 Mutations Cause a Continuum Rather Than Three Discrete Phenotypes.

Two unusual cases of PLA2G6-associated neurodegeneration from India.

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunction.

Neuroaxonal dystrophy in PLA2G6 knockout mice.

Homozygous p.D331Y mutation in PLA2G6 in two patients with pure autosomal-recessive early-onset parkinsonism: further evidence of a fourth phenotype of PLA2G6-associated neurodegeneration.

Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity.