Associated Papers
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
39425167 (PubMed )
Supplement: 13023_2024_3275_MOESM1_ESM.xlsx › Sheet1
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
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM5_ESM.xlsx › Feuil1
Neurodegeneration with brain iron accumulation: Insights into the mitochondria dysregulation.
Wang ZB et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2019
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
27196560 (PubMed )
Supplement: pone.0155605.s001.pdf
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
27081553 (PubMed )
Supplement: hgv201548-s2.xls › Table_S2
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