Detalhe da pesquisa
1.
Positive Allosteric Modulators of Glycine Receptors and Their Potential Use in Pain Therapies.
Pharmacol Rev
; 74(4): 933-961, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779343
2.
Clinical, genetic, and functional characterization of the glycine receptor ß-subunit A455P variant in a family affected by hyperekplexia syndrome.
J Biol Chem
; 298(7): 102018, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35526563
3.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med
; 25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37087635
4.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
5.
MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Mov Disord
; 37(10): 2139-2146, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35876425
6.
Drug dose and animal welfare: important considerations in the treatment of wildlife.
Parasitol Res
; 121(3): 1065-1071, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35147771
7.
Glycine Receptor Complex Analysis Using Immunoprecipitation-Blue Native Gel Electrophoresis-Mass Spectrometry.
Proteomics
; 20(3-4): e1900403, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31984645
8.
Effects of GluN2A and GluN2B gain-of-function epilepsy mutations on synaptic currents mediated by diheteromeric and triheteromeric NMDA receptors.
Neurobiol Dis
; 140: 104850, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32247039
9.
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy.
Hum Mutat
; 40(1): 5-24, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30328660
10.
Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease.
J Neurosci
; 37(33): 7948-7961, 2017 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724750
11.
Cerebral Cortical Circuitry Formation Requires Functional Glycine Receptors.
Cereb Cortex
; 27(3): 1863-1877, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26891984
12.
Correction to: Drug dose and animal welfare: important considerations in the treatment of wildlife.
Parasitol Res
; 121(5): 1551, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35230550
13.
Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.
J Physiol
; 594(13): 3589-607, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27028707
14.
Control of Inhibition by the Direct Action of Cannabinoids on GABAA Receptors.
Cereb Cortex
; 25(9): 2440-55, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24646614
15.
GLRB is the third major gene of effect in hyperekplexia.
Hum Mol Genet
; 22(5): 927-40, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184146
16.
Control of ethanol sensitivity of the glycine receptor α3 subunit by transmembrane 2, the intracellular splice cassette and C-terminal domains.
J Pharmacol Exp Ther
; 353(1): 80-90, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25589412
17.
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Ann Neurol
; 75(1): 147-54, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24272827
18.
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.
Nat Genet
; 38(7): 801-6, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16751771
19.
Defective escape behavior in DEAH-box RNA helicase mutants improved by restoring glycine receptor expression.
J Neurosci
; 33(37): 14638-44, 2013 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24027265
20.
The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1.
Nat Cell Biol
; 9(11): 1243-52, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17906618