Associated Papers
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort.
Menicucci L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Mahdieh N et al.
Human Genomics, 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
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
The natural history of infantile neuroaxonal dystrophy.
Altuame FD et al.
Orphanet Journal of Rare Diseases, 2020
PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.
Gitiaux C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.
Mascalchi M et al.
Cerebellum (london, England), 2017
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
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
Nishioka K et al.
Neurobiology of Aging, 2015
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
Romani M et al.
European Journal of Neurology, 2015
Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.
Yamamoto T et al.
Human Genome Variation, 2015
Exome sequencing as a diagnostic tool for pediatric-onset ataxia.
Sawyer SL et al.
Human Mutation, 2014
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
Zhang P et al.
European Journal of Neurology, 2013
Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A et al.
Neurology, 2008
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV et al.
Nature Genetics, 2006