Detalhe da pesquisa
1.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
2.
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
PLoS Genet
; 13(1): e1006536, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28095420
3.
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.
Am J Hum Genet
; 99(6): 1261-1280, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839871
4.
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet
; 99(4): 802-816, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616483
5.
Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy.
Mol Pharmacol
; 91(4): 317-330, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28126851
6.
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
J Hum Genet
; 62(6): 589-597, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28228639
7.
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
PLoS One
; 12(2): e0170818, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28182669
8.
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.
Ann Clin Transl Neurol
; 1(3): 190-198, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24839611