Detalhe da pesquisa
1.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35934918
2.
Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Am J Hum Genet
; 102(2): 296-308, 2018 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29395075
3.
Soft windowing application to improve analysis of high-throughput phenotyping data.
Bioinformatics
; 36(5): 1492-1500, 2020 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31591642
4.
Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice.
Nature
; 526(7573): 430-4, 2015 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-26469053
5.
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
Ann Neurol
; 86(3): 332-343, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31206741
6.
Evaluating Two Common Strategies for Research Participant Recruitment Into Autism Studies: Observational Study.
J Med Internet Res
; 22(9): e16752, 2020 09 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32969826
7.
Rigor and reproducibility in rodent behavioral research.
Neurobiol Learn Mem
; 165: 106780, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29307548
8.
Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.
Hum Mol Genet
; 25(15): 3284-3302, 2016 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27365498
9.
Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy.
J Neurosci
; 36(45): 11402-11410, 2016 11 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27911742
10.
Genetic rodent models of brain disorders: Perspectives on experimental approaches and therapeutic strategies.
Am J Med Genet C Semin Med Genet
; 175(3): 368-379, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28910526
11.
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
Nature
; 468(7321): 263-9, 2010 Nov 11.
Artigo
Inglês
| MEDLINE | ID: mdl-21068835
12.
Duplication of Atxn1l suppresses SCA1 neuropathology by decreasing incorporation of polyglutamine-expanded ataxin-1 into native complexes.
Nat Genet
; 39(3): 373-9, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17322884
13.
Female Mecp2(+/-) mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.
Hum Mol Genet
; 22(1): 96-109, 2013 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23026749
14.
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome.
Dis Model Mech
; 16(2)2023 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36637363
15.
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities.
Proc Natl Acad Sci U S A
; 106(51): 21966-71, 2009 Dec 22.
Artigo
Inglês
| MEDLINE | ID: mdl-20007372
16.
Anxiety in Angelman Syndrome.
Am J Intellect Dev Disabil
; 127(1): 1-10, 2022 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34979033
17.
Identifying genetic determinants of inflammatory pain in mice using a large-scale gene-targeted screen.
Pain
; 163(6): 1139-1157, 2022 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35552317
18.
A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome.
Hum Mol Genet
; 17(12): 1718-27, 2008 Jun 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18321864
19.
Loss of MeCP2 Function Across Several Neuronal Populations Impairs Breathing Response to Acute Hypoxia.
Front Neurol
; 11: 593554, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33193060
20.
Complexities of Rett syndrome and MeCP2.
J Neurosci
; 31(22): 7951-9, 2011 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21632916