Detalhe da pesquisa
1.
The evolutionarily conserved miRNA-137 targets the neuropeptide hypocretin/orexin and modulates the wake to sleep ratio.
Proc Natl Acad Sci U S A
; 119(17): e2112225119, 2022 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-35452310
2.
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Neurol Sci
; 44(6): 2173-2176, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-36913149
3.
The Interchromatin Compartment Participates in the Structural and Functional Organization of the Cell Nucleus.
Bioessays
; 42(2): e1900132, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31994771
4.
Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.
Am J Hum Genet
; 102(6): 1090-1103, 2018 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29805044
5.
Perturbations in the p53/miR-34a/SIRT1 pathway in the R6/2 Huntington's disease model.
Mol Cell Neurosci
; 88: 118-129, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29289683
6.
Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia.
Hum Mol Genet
; 23(23): 6163-76, 2014 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-24986922
7.
Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education.
BMC Med Educ
; 16: 98, 2016 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-27012245
8.
Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice.
Neurobiol Dis
; 73: 275-88, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25315682
9.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Am J Hum Genet
; 91(1): 56-72, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22770980
10.
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.
Epilepsia
; 55(12): 2017-27, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25410734
11.
Sequence and expression analysis of gaps in human chromosome 20.
Nucleic Acids Res
; 40(14): 6660-72, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22510267
12.
MicroRNAs in the hypothalamus.
Neuroendocrinology
; 98(4): 243-53, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-24080764
13.
Single-molecule denaturation mapping of DNA in nanofluidic channels.
Proc Natl Acad Sci U S A
; 107(30): 13294-9, 2010 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-20616076
14.
Genetic ablation of Dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration.
Hum Mol Genet
; 19(20): 3959-69, 2010 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-20660113
15.
Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization.
Biomed Microdevices
; 14(3): 453-60, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22222279
16.
A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1.
Behav Genet
; 41(1): 125-33, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20798984
17.
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Epilepsia
; 52(12): e190-3, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22050443
18.
Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimer's disease correlates with increased BACE1/beta-secretase expression.
Proc Natl Acad Sci U S A
; 105(17): 6415-20, 2008 Apr 29.
Artigo
Inglês
| MEDLINE | ID: mdl-18434550
19.
MicroRNA expression in the adult mouse central nervous system.
RNA
; 14(3): 432-44, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18230762
20.
Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liver.
Nucleic Acids Res
; 36(4): 1153-62, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18158304