Detalhe da pesquisa
1.
Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders.
Ann Neurol
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38721759
2.
Parental age effects and Rett syndrome.
Am J Med Genet A
; 194(2): 160-173, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37768187
3.
Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome.
Hum Mol Genet
; 29(15): 2461-2470, 2020 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32469049
4.
Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome.
J Pediatr
; 244: 169-177.e3, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063470
5.
Multisite Study of Evoked Potentials in Rett Syndrome.
Ann Neurol
; 89(4): 790-802, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33480039
6.
Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Ann Neurol
; 88(2): 396-406, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32472944
7.
Phenotypic features in MECP2 duplication syndrome: Effects of age.
Am J Med Genet A
; 185(2): 362-369, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170557
8.
Detection of neurophysiological features in female R255X MeCP2 mutation mice.
Neurobiol Dis
; 145: 105083, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32927061
9.
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.
Clin Genet
; 95(5): 575-581, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788845
10.
Biliary Tract Disease in Girls and Young Women With Rett Syndrome.
J Pediatr Gastroenterol Nutr
; 68(6): 799-805, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30664568
11.
The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.
Am J Med Genet B Neuropsychiatr Genet
; 180(1): 55-67, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536762
12.
Methyl-CpG binding-protein 2 function in cholinergic neurons mediates cardiac arrhythmogenesis.
Hum Mol Genet
; 25(22): 4983-4995, 2016 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28159985
13.
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
em Inglês
| MEDLINE | ID: mdl-27365498
14.
Longitudinal course of epilepsy in Rett syndrome and related disorders.
Brain
; 140(2): 306-318, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28007990
15.
Progressive Changes in a Distributed Neural Circuit Underlie Breathing Abnormalities in Mice Lacking MeCP2.
J Neurosci
; 36(20): 5572-86, 2016 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27194336
16.
Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.
Hum Mol Genet
; 24(9): 2662-72, 2015 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25634563
17.
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.
Genet Med
; 19(1): 13-19, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171548
18.
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes.
Nature
; 468(7321): 263-9, 2010 Nov 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21068835
19.
Corrigendum: Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.
Nature
; 525(7570): 552, 2015 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26176914
20.
Wild-type microglia do not reverse pathology in mouse models of Rett syndrome.
Nature
; 521(7552): E1-4, 2015 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25993969