Detalhe da pesquisa
1.
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
Inglês
| MEDLINE | ID: mdl-33972691
2.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33824500
3.
Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.
PLoS Genet
; 13(7): e1006886, 2017 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-28704368
4.
Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.
Autophagy
; 20(1): 15-28, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37674294
5.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Autophagy
; 18(2): 423-442, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34286667
6.
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
Inglês
| MEDLINE | ID: mdl-34329594
7.
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype.
Cell Rep
; 30(1): 173-186.e6, 2020 01 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31914384
8.
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
Inglês
| MEDLINE | ID: mdl-32320658
9.
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling.
Nat Commun
; 10(1): 4928, 2019 10 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31666522
10.
The promise of induced pluripotent stem cells for neurodevelopmental disorders.
Prog Neuropsychopharmacol Biol Psychiatry
; 84(Pt B): 382-391, 2018 06 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29128445
11.
Rapid Neuronal Differentiation of Induced Pluripotent Stem Cells for Measuring Network Activity on Micro-electrode Arrays.
J Vis Exp
; (119)2017 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-28117798
12.
Added effects of dexamethasone and mesenchymal stem cells on early Natural Killer cell activation.
Transpl Immunol
; 37: 1-9, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27142560
13.
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
Eur J Hum Genet
; 24(5): 652-9, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26306646