Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.
Flores-Ocampo V et al.
Genes, 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
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
The role of the PLA2G6 gene in neurodegenerative diseases.
Deng X et al.
Ageing Research Reviews, 2023
Exploring therapeutic strategies for infantile neuronal axonal dystrophy (INAD/PARK14).
Lin G et al.
Elife, 2023
A GLP1 receptor agonist diabetes drug ameliorates neurodegeneration in a mouse model of infantile neurometabolic disease.
Poupon-Bejuit L et al.
Scientific Reports, 2022
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
Sequence and Structure-Based Analyses of Human Ankyrin Repeats.
Chakrabarty B et al.
Molecules (basel, Switzerland), 2022
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
Magrinelli F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
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
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-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes.
Guo YP et al.
Frontiers in Neurology, 2018
Neurons and astrocytes in an infantile neuroaxonal dystrophy (INAD) mouse model show characteristic alterations in glutamate-induced Ca2+ signaling.
Strokin M et al.
Neurochemistry International, 2017
Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.
Guo S et al.
Molecular Neurobiology, 2017
Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.
Tsuboi M et al.
Plos One, 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
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
Neuronal phospholipid deacylation is essential for axonal and synaptic integrity.
Glynn P
Biochimica Et Biophysica Acta, 2013
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
Zhang P et al.
European Journal of Neurology, 2013
Severe disturbance in the Ca2+ signaling in astrocytes from mouse models of human infantile neuroaxonal dystrophy with mutated Pla2g6.
Strokin M et al.
Human Molecular Genetics, 2012
Recent progress in phospholipase A₂ research: from cells to animals to humans.
Murakami M et al.
Progress in Lipid Research, 2011
Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.
Wada H et al.
The American Journal of Pathology, 2009
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.
Wu Y et al.
European Journal of Neurology, 2009