Detalhe da pesquisa
1.
YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.
Hum Mol Genet
; 32(3): 462-472, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36001342
2.
Alteration of Scn3a expression is mediated via CpG methylation and MBD2 in mouse hippocampus during postnatal development and seizure condition.
Biochim Biophys Acta
; 1849(1): 1-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25459751
3.
A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.
Hum Genet
; 133(6): 801-11, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24464349
4.
PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation.
Front Neurol
; 13: 836048, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35959395
5.
Involvement of FMRP in Primary MicroRNA Processing via Enhancing Drosha Translation.
Mol Neurobiol
; 54(4): 2585-2594, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26993298
6.
A MicroRNA Profile in Fmr1 Knockout Mice Reveals MicroRNA Expression Alterations with Possible Roles in Fragile X Syndrome.
Mol Neurobiol
; 51(3): 1053-63, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906954
7.
Transcription of the human sodium channel SCN1A gene is repressed by a scaffolding protein RACK1.
Mol Neurobiol
; 50(2): 438-48, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24436055