Detalhe da pesquisa
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37606373
2.
Ploidy-stratified single cardiomyocyte transcriptomics map Zinc Finger E-Box Binding Homeobox 1 to underly cardiomyocyte proliferation before birth.
Basic Res Cardiol
; 118(1): 8, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36862248
3.
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Genet Med
; 25(9): 100894, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183800
4.
X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.
Mol Genet Metab
; 140(3): 107694, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708665
5.
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Epilepsia
; 64(8): e170-e176, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114479
6.
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Brain
; 145(4): 1299-1309, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633442
7.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
8.
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain
; 144(12): 3635-3650, 2021 12 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114611
9.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
10.
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Brain
; 143(4): 1114-1126, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293671
11.
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Epilepsia
; 61(3): 387-399, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32090326
12.
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.
Brain
; 142(10): 3009-3027, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31504254
13.
Perturbations in RhoA signalling cause altered migration and impaired neuritogenesis in human iPSC-derived neural cells with PARK2 mutation.
Neurobiol Dis
; 132: 104581, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31445161
14.
TNF deficiency causes alterations in the spatial organization of neurogenic zones and alters the number of microglia and neurons in the cerebral cortex.
Brain Behav Immun
; 82: 279-297, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31505254
15.
The spectrum of intermediate SCN8A-related epilepsy.
Epilepsia
; 60(5): 830-844, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30968951
16.
Beneficial potential of intravenously administered IL-6 in improving outcome after murine experimental stroke.
Brain Behav Immun
; 65: 296-311, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28587928
17.
CD8+ T cells complement antibodies in protecting against yellow fever virus.
J Immunol
; 194(3): 1141-53, 2015 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539816
18.
Myelin-specific T cells induce interleukin-1beta expression in lesion-reactive microglial-like cells in zones of axonal degeneration.
Glia
; 64(3): 407-24, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26496662
19.
Suppressors of cytokine signaling 1 and 3 are upregulated in brain resident cells in response to virus-induced inflammation of the central nervous system via at least two distinctive pathways.
J Virol
; 88(24): 14090-104, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25253351
20.
Differential impact of interferon regulatory factor 7 in initiation of the type I interferon response in the lymphocytic choriomeningitis virus-infected central nervous system versus the periphery.
J Virol
; 86(13): 7384-92, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22514347