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
Inglês
| MEDLINE | ID: mdl-38538865
2.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci
; 80(11): 345, 2023 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37921875
3.
The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus.
Mov Disord
; 35(7): 1224-1232, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32369665
4.
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
Brain
; 142(7): 1938-1954, 2019 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31056671
5.
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
Brain
; 142(10): 3009-3027, 2019 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31504254
6.
Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
Dev Med Child Neurol
; 62(10): 1213-1220, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32686847
7.
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Hum Mutat
; 40(12): 2393-2413, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31429998
8.
GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications.
J Neurol
; 269(5): 2649-2665, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-34698933
9.
A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Front Genet
; 12: 694312, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34413877
10.
Negative allosteric modulation of GluN1/GluN3 NMDA receptors.
Neuropharmacology
; 176: 108117, 2020 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32389749
11.
Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.
Gene
; 700: 168-175, 2019 Jun 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30904718
12.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Neurology
; 92(2): e96-e107, 2019 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30541864
13.
De Novo Mutations and Rare Variants Occurring in NMDA Receptors.
Curr Opin Physiol
; 2: 27-35, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29756080
14.
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.
PLoS One
; 12(2): e0170818, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28182669
15.
Autophagy eliminates cytoplasmic ß-catenin and NICD to promote the cardiac differentiation of P19CL6 cells.
Cell Signal
; 26(11): 2299-305, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25101857