Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
41629344 (PubMed )
Supplement: 41525_2025_547_MOESM2_ESM.xlsx › Table_S6
Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency.
Karnstedt M et al.
Epilepsia, 2026
Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.
Cordo' V et al.
Nature Communications, 2022
35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K et al.
Journal of Medical Genetics, 2017
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