Detalhe da pesquisa
1.
In-vivo genetic ablation of metabotropic glutamate receptor type 5 slows down disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis.
Neurobiol Dis
; 129: 79-92, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31102766
2.
Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1crv4 mouse model of SCAR13 ataxia.
Neurobiol Dis
; 109(Pt A): 44-53, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28982591
3.
Assessment of copy number variations in 120 patients with Poland syndrome.
BMC Med Genet
; 17(1): 89, 2016 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884122
4.
Type-1, but Not Type-5, Metabotropic Glutamate Receptors are Coupled to Polyphosphoinositide Hydrolysis in the Retina.
Neurochem Res
; 41(4): 924-32, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26700429
5.
Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.
Neurobiol Dis
; 64: 48-59, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24361555
6.
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
BMC Med Genet
; 15: 63, 2014 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885342
7.
Compensatory molecular and functional mechanisms in nervous system of the Grm1(crv4) mouse lacking the mGlu1 receptor: a model for motor coordination deficits.
Cereb Cortex
; 23(9): 2179-89, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22791805
8.
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes.
Cells
; 12(15)2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566031
9.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Mol Syndromol
; 14(5): 433-438, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37915395
10.
Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.
Am J Pathol
; 178(3): 1257-69, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21356376
11.
Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors.
J Pathol
; 225(1): 118-28, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21630272
12.
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Birth Defects Res
; 114(12): 674-681, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751431
13.
A top-down linguistic approach to the analysis of genomic sequences: The metabotropic glutamate receptors 1 and 5 in human and in mouse as a case study.
J Theor Biol
; 270(1): 134-42, 2011 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-21093453
14.
The HIV-1 viral protein Tat increases glutamate and decreases GABA exocytosis from human and mouse neocortical nerve endings.
Cereb Cortex
; 20(8): 1974-84, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20034999
15.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Front Genet
; 12: 625564, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33679889
16.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Front Genet
; 12: 732002, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621295
17.
Low-copy repeats on chromosome 22q11.2 show replication timing switches, DNA flexibility peaks and stress inducible asynchrony, sharing instability features with fragile sites.
Mutat Res
; 686(1-2): 74-83, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20138061
18.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Orphanet J Rare Dis
; 15(1): 201, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758259
19.
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.
Eur J Med Genet
; 62(9): 103555, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359776
20.
Presynaptic mGlu1 and mGlu5 autoreceptors facilitate glutamate exocytosis from mouse cortical nerve endings.
Neuropharmacology
; 55(4): 474-82, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18625255