Associated Papers
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications.
Xie C et al.
Orphanet Journal of Rare Diseases, 2025
41146259 (PubMed )
Supplement: 13023_2025_4055_MOESM1_ESM.xlsx › Supplementary_table1
NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.
Tumdam R et al.
International Journal of Molecular Sciences, 2024
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
Rescuing tri-heteromeric NMDA receptor function: the potential of pregnenolone-sulfate in loss-of-function GRIN2B variants.
Kellner S et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Functional Evaluation of a Novel GRIN2B Missense Variant Associated with Epilepsy and Intellectual Disability.
Wang X et al.
Neuroscience, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
39669259 (PubMed )
Supplement: mmc1.xlsx › ______1
Protein quality control of N-methyl-D-aspartate receptors.
Benske TM et al.
Frontiers in Cellular Neuroscience, 2022
GRIN2B-related neurodevelopmental disorder: current understanding of pathophysiological mechanisms.
Sabo SL et al.
Frontiers in Synaptic Neuroscience, 2022
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
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