Detalhe da pesquisa
1.
Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.
Mol Psychiatry
; 26(7): 3625-3633, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792659
2.
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.
Child Psychiatry Hum Dev
; 52(4): 654-668, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32880036
3.
Towards a better diagnosis and treatment of Rett syndrome: a model synaptic disorder.
Brain
; 142(2): 239-248, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30649225
4.
Transcellular neuroligin-2 interactions enhance insulin secretion and are integral to pancreatic ß cell function.
J Biol Chem
; 287(24): 19816-26, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22528485
5.
Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).
J Neurodev Disord
; 15(1): 22, 2023 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37495977
6.
AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome.
Mol Ther Nucleic Acids
; 28: 514-529, 2022 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35592499
7.
Structural analysis of the synaptic protein neuroligin and its beta-neurexin complex: determinants for folding and cell adhesion.
Neuron
; 56(6): 979-91, 2007 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-18093521
8.
Neuroligin trafficking deficiencies arising from mutations in the alpha/beta-hydrolase fold protein family.
J Biol Chem
; 285(37): 28674-82, 2010 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20615874
9.
Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts.
Elife
; 102021 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34259631
10.
Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model.
JCI Insight
; 6(15)2021 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34369389
11.
Antagomir-mediated suppression of microRNA-134 reduces kainic acid-induced seizures in immature mice.
Sci Rep
; 11(1): 340, 2021 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33431894
12.
Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.
Elife
; 92020 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32167471
13.
Proteomic analyses reveal misregulation of LIN28 expression and delayed timing of glial differentiation in human iPS cells with MECP2 loss-of-function.
PLoS One
; 14(2): e0212553, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30789962
14.
Electrophysiological Phenotype in Angelman Syndrome Differs Between Genotypes.
Biol Psychiatry
; 85(9): 752-759, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30826071
15.
Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability.
Cancer Res
; 64(19): 7039-44, 2004 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15466197
16.
Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities.
Nat Rev Drug Discov
; 20(9): 653-654, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002058
17.
Characterization of a human pluripotent stem cell-derived model of neuronal development using multiplexed targeted proteomics.
Proteomics Clin Appl
; 9(7-8): 684-94, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25684324
18.
The crystal structure of the α-neurexin-1 extracellular region reveals a hinge point for mediating synaptic adhesion and function.
Structure
; 19(6): 767-78, 2011 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-21620717
19.
The macromolecular architecture of extracellular domain of alphaNRXN1: domain organization, flexibility, and insights into trans-synaptic disposition.
Structure
; 18(8): 1044-53, 2010 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-20696403
20.
Computer-aided detection of polyps on oral contrast-enhanced CT colonography.
AJR Am J Roentgenol
; 184(1): 105-8, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15615958