Associated Papers
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
Rescue Right Pallidotomy and Left Thalamotomy in a patient with PLA2G6-associated Refractory Status Dystonicus and Tremor.
Farsana MK et al.
Journal of Movement Disorders, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 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
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A et al.
Orphanet Journal of Rare Diseases, 2024
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Wu R et al.
Orphanet Journal of Rare Diseases, 2024
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024
A novel variant of PLA2G6 gene related early-onset parkinsonism: a case report and literature review.
Cai D et al.
Frontiers in Neurology, 2024
Motor and non-motor responses of STN DBS in early onset PLA2G6 related Parkinsonism with compound heterozygous mutation from China.
Chen S et al.
Parkinsonism & Related Disorders, 2023
Clinical Characterization and Founder Effect Analysis in Chinese Patients with Phospholipase A2-Associated Neurodegeneration.
Cheng HL et al.
Brain Sciences, 2022
Reply to: Juvenile PLA2G6-parkinsonism due to Indian 'Asian' p.R741Q mutation, and response to STN DBS.
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
WDR45, one gene associated with multiple neurodevelopmental disorders.
Cong Y et al.
Autophagy, 2021
Early-onset parkinsonism linked to combined heterozygous mutations in PANK2 and PLA2G6: A case report.
Li J et al.
Parkinsonism & Related Disorders, 2021
Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report.
Wang B et al.
Experimental and Therapeutic Medicine, 2018
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
Dastsooz H et al.
Bmc Medical Genetics, 2017
Monozygotic twins with infantile neuroaxonal dystrophy: A case report and literature review.
Li H et al.
Experimental and Therapeutic Medicine, 2016
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
Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.
Zhang P et al.
European Journal of Neurology, 2013
Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.
Wu Y et al.
European Journal of Neurology, 2009
[A case of infantile neuroaxonal dystrophy].
Wu Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004