Detalhe da pesquisa
1.
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
Brain
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538210
2.
A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer's Disease in African Ancestry.
PLoS Genet
; 18(7): e1009977, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788729
3.
MethReg: estimating the regulatory potential of DNA methylation in gene transcription.
Nucleic Acids Res
; 50(9): e51, 2022 05 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35100398
4.
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
Hum Mol Genet
; 30(11): 985-995, 2021 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791800
5.
Ancestry-related differences in chromatin accessibility and gene expression of APOE ε4 are associated with Alzheimer's disease risk.
Alzheimers Dement
; 19(9): 3902-3915, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37037656
6.
Identifying differential regulatory control of APOE É4 on African versus European haplotypes as potential therapeutic targets.
Alzheimers Dement
; 18(10): 1930-1942, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34978147
7.
coMethDMR: accurate identification of co-methylated and differentially methylated regions in epigenome-wide association studies with continuous phenotypes.
Nucleic Acids Res
; 47(17): e98, 2019 09 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31291459
8.
Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds.
Alzheimers Dement
; 17(7): 1179-1188, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33522086
9.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31949314
10.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32047287
11.
The NuRD complex and macrocephaly associated neurodevelopmental disorders.
Am J Med Genet C Semin Med Genet
; 181(4): 548-556, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31737996
12.
Neuronal SIRT1 (Silent Information Regulator 2 Homologue 1) Regulates Glycolysis and Mediates Resveratrol-Induced Ischemic Tolerance.
Stroke
; 48(11): 3117-3125, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29018134
13.
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
Hum Mol Genet
; 23(7): 1771-82, 2014 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24218365
14.
Regulation of the Epigenome by Vitamin C.
Annu Rev Nutr
; 35: 545-64, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25974700
15.
Resveratrol Preconditioning Induces a Novel Extended Window of Ischemic Tolerance in the Mouse Brain.
Stroke
; 46(8): 2293-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26159789
16.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Hum Genet
; 134(2): 181-90, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25413698
17.
Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.
Am J Hum Genet
; 91(5): 872-82, 2012 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122586
18.
Ascorbate induces ten-eleven translocation (Tet) methylcytosine dioxygenase-mediated generation of 5-hydroxymethylcytosine.
J Biol Chem
; 288(19): 13669-74, 2013 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23548903
19.
Critical evaluation of the reliability of DNA methylation probes on the Illumina MethylationEPIC v1.0 BeadChip microarrays.
Epigenetics
; 19(1): 2333660, 2024 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564759
20.
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
Transl Psychiatry
; 14(1): 33, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238293