Associated Papers
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L et al.
Human Molecular Genetics, 2025
39535073 (PubMed )
Supplement: supplemental_table_s8_final_ddae156.xlsx › Suppl_Table_S8
Disease-Associated Variants in GRIN1, GRIN2A and GRIN2B genes: Insights into NMDA Receptor Structure, Function, and Pathophysiology.
Korinek M et al.
Physiological Research, 2024
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum.
Santos-Gómez A et al.
International Journal of Molecular Sciences, 2021
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study.
Hong SY et al.
Journal of Personalized Medicine, 2020
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