Detalhe da pesquisa
1.
Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.
N Engl J Med
; 388(8): 706-718, 2023 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36812434
2.
STIM1 clusters and activates CRAC channels via direct binding of a cytosolic domain to Orai1.
Cell
; 136(5): 876-90, 2009 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-19249086
3.
Generating human neurons in vitro and using them to understand neuropsychiatric disease.
Annu Rev Neurosci
; 37: 479-501, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25002278
4.
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
Nature
; 503(7475): 267-71, 2013 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24132240
5.
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome.
Nature
; 471(7337): 230-4, 2011 Mar 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21307850
6.
MicroRNA-mediated conversion of human fibroblasts to neurons.
Nature
; 476(7359): 228-31, 2011 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21753754
7.
Patient Brain Organoids Identify a Link between the 16p11.2 Copy Number Variant and the RBFOX1 Gene.
ACS Chem Neurosci
; 14(22): 3993-4012, 2023 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37903506
8.
STIM1 and calmodulin interact with Orai1 to induce Ca2+-dependent inactivation of CRAC channels.
Proc Natl Acad Sci U S A
; 106(36): 15495-500, 2009 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-19706428
9.
Humanistic Burden of Huntington Disease: Evidence From the Huntington Disease Burden of Illness Study.
Neurol Clin Pract
; 12(6): e172-e180, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36540140
10.
The tumor suppressor eIF3e mediates calcium-dependent internalization of the L-type calcium channel CaV1.2.
Neuron
; 55(4): 615-32, 2007 Aug 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-17698014
11.
Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report.
Ann N Y Acad Sci
; 1506(1): 5-17, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342000
12.
16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development.
Elife
; 92020 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169669
13.
Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.
Nat Med
; 26(12): 1888-1898, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989314
14.
Molecular mechanisms of autism: a possible role for Ca2+ signaling.
Curr Opin Neurobiol
; 17(1): 112-9, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17275285
15.
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.
Elife
; 82019 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31868578
16.
CREB transcriptional activity in neurons is regulated by multiple, calcium-specific phosphorylation events.
Neuron
; 34(2): 221-33, 2002 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-11970864
17.
Investigating the Therapeutic Mechanism of Cannabidiol in a Human Induced Pluripotent Stem Cell (iPSC)-Based Model of Dravet Syndrome.
Cold Spring Harb Symp Quant Biol
; 83: 185-191, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-31186344
18.
How induced pluripotent stem cells are informing drug discovery in psychiatry.
Swiss Med Wkly
; 146: w14241, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26752334
19.
CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency.
Science
; 351(6278): 1199-203, 2016 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26847545
20.
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.
Elife
; 52016 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27458797