Associated Papers
Houge-Janssens syndrome.
Houge GD et al.
European Journal of Human Genetics : Ejhg, 2025
Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.
Garrido-Torres N et al.
European Child & Adolescent Psychiatry, 2024
Thirteen New Patients of PPP2R5D Gene Mutation and the Fine Profile of Genotype-Phenotype Correlation Unraveling the Pathogenic Mechanism Underlying Macrocephaly Phenotype.
Jiang Y et al.
Children (basel, Switzerland), 2024
Validation of a modified version of the gross motor function measure in PPPR5D related neurodevelopmental disorder.
Kanner CH et al.
Orphanet Journal of Rare Diseases, 2024
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
Quantitative proteomics and phosphoproteomics of PP2A-PPP2R5D variants reveal deregulation of RPS6 phosphorylation via converging signaling cascades.
Smolen KA et al.
The Journal of Biological Chemistry, 2023
37572851 (PubMed )
Supplement: mmc1.docx
Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.
Oyama N et al.
Journal of Medical Genetics, 2023
Quantitative proteomics and phosphoproteomics of PPP2R5D variants reveal deregulation of RPS6 phosphorylation through converging signaling cascades.
Ka S et al.
Biorxiv : the Preprint Server for Biology, 2023
37034727 (PubMed )
Supplement: media-4.pdf
PPP2R5D Genetic Mutations and Early-Onset Parkinsonism.
Walker IM et al.
Annals of Neurology, 2021
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Kim CY et al.
Annals of Neurology, 2021
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