Detalhe da pesquisa
1.
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
Hum Mol Genet
; 33(6): 520-529, 2024 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38129107
2.
Bumetanide induces post-traumatic microglia-interneuron contact to promote neurogenesis and recovery.
Brain
; 146(10): 4247-4261, 2023 10 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37082944
3.
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype.
J Med Genet
; 60(10): 1021-1025, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-36849228
4.
NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant.
Epilepsia
; 64(6): e127-e134, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37014259
5.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med
; 23(11): 2138-2149, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34244665
6.
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Epilepsia
; 61(5): 868-878, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32239694
7.
The conversion of glutamate by glutamine synthase in neocortical astrocytes from juvenile rat is important to limit glutamate spillover and peri/extrasynaptic activation of NMDA receptors.
Glia
; 65(2): 401-415, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27862359
8.
A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.
Epilepsia
; 58(12): 2073-2084, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29067685
9.
A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.
Epilepsia
; 57(5): e87-93, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27030113
10.
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Neurobiol Dis
; 80: 80-92, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26007637
11.
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation.
Am J Hum Genet
; 85(6): 903-8, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20004764
12.
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Am J Hum Genet
; 85(1): 106-11, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19559399
13.
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation.
Am J Hum Genet
; 82(5): 1150-7, 2008 May.
Artigo
Inglês
| MEDLINE | ID: mdl-18455129
14.
High-intensity interval training is superior to moderate intensity training on aerobic capacity in rats: Impact on hippocampal plasticity markers.
Behav Brain Res
; 398: 112977, 2021 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33141075
15.
Protective Role of Low Ethanol Administration Following Ischemic Stroke via Recovery of KCC2 and p75NTR Expression.
Mol Neurobiol
; 58(3): 1145-1161, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33099743
16.
Mitochondria and neonatal epileptic encephalopathies with suppression burst.
J Bioenerg Biomembr
; 42(6): 467-71, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21161349
17.
Novel carbon film induces precocious calcium oscillation to promote neuronal cell maturation.
Sci Rep
; 10(1): 17661, 2020 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-33077786
18.
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group.
Eur J Hum Genet
; 27(11): 1692-1700, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31285529
19.
Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation.
Front Cell Neurosci
; 11: 149, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28620281
20.
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.
Am J Psychiatry
; 163(9): 1622-9, 2006 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16946189