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
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK et al.
Jama Neurology, 2023
37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S et al.
Journal of Medical Genetics, 2023
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE et al.
Brain : a Journal of Neurology, 2018
Polymicrogyria and GRIN1 mutations: altered connections, altered excitability.
Crino PB
Brain : a Journal of Neurology, 2018
Select a paper to view details