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
Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.
Fatima A et al.
Medicina (kaunas, Lithuania), 2024
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
35624904 (PubMed )
Supplement: brainsci-12-00517-s001.zip › brainsci-1650042-supplementary › Supplementary_files__revised_2_ › Table_S1-4__revised_2_.xlsx › Table_S1
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova H et al.
Ebiomedicine, 2022
35180557 (PubMed )
Supplement: mmc3.xlsx › List1
Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy.
Zou Y et al.
Frontiers in Neurology, 2022
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
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
Sequencing TMEM230 in Chinese patients with sporadic or familial Parkinson's disease.
Yang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
[A novel homozygous mutation in PLA2G6 gene causes infantile neuroaxonal dystrophy in a case].
Wang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
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