Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
Brain
; 146(12): 5153-5167, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37467479
3.
Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks.
Mol Psychiatry
; 27(1): 1-18, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972691
4.
Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ-aminobutyric acid as a common mechanism.
Epilepsia
; 64(8): 1975-1990, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195166
5.
The OTUD7A-Ankyrin pathway: a newly identified disease mechanism for the 15q13.3 microdeletion disorder.
Mol Psychiatry
; 28(4): 1400-1401, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36670197
6.
NIPT-based screening for Down syndrome and beyond: what do pregnant women think?
Prenat Diagn
; 35(6): 598-604, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25693726
7.
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
Nat Commun
; 15(1): 1210, 2024 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38331934
8.
An in silico and in vitro human neuronal network model reveals cellular mechanisms beyond NaV1.1 underlying Dravet syndrome.
Stem Cell Reports
; 18(8): 1686-1700, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37419110
9.
A human in vitro neuronal model for studying homeostatic plasticity at the network level.
Stem Cell Reports
; 18(11): 2222-2239, 2023 11 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37863044
10.
Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro.
Stem Cell Reports
; 16(9): 2182-2196, 2021 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34329594
11.
m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity.
Cell Rep
; 31(3): 107538, 2020 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32320658