Detalhe da pesquisa
1.
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.
J Med Genet
; 59(7): 687-690, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34193467
2.
Frataxin deficiency impairs mitochondrial biogenesis in cells, mice and humans.
Hum Mol Genet
; 26(14): 2627-2633, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28444186
3.
Dimethyl fumarate mediates Nrf2-dependent mitochondrial biogenesis in mice and humans.
Hum Mol Genet
; 26(15): 2864-2873, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28460056
4.
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia.
Hum Mol Genet
; 23(25): 6848-62, 2014 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25113747
5.
Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome.
Genes (Basel)
; 13(10)2022 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292679
6.
A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models.
Front Mol Biosci
; 9: 830650, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35664670
7.
A ketogenic diet impacts markers of mitochondrial mass in a tissue specific manner in aged mice.
Aging (Albany NY)
; 13(6): 7914-7930, 2021 03 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33735837
8.
Urine-Derived Epithelial Cell Lines: A New Tool to Model Fragile X Syndrome (FXS).
Cells
; 9(10)2020 10 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33027907
9.
Blood-Based Biomarkers Predictive of Metformin Target Engagement in Fragile X Syndrome.
Brain Sci
; 10(6)2020 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32531912
10.
Molecular Biomarkers Predictive of Sertraline Treatment Response in Young Children With Autism Spectrum Disorder.
Front Genet
; 11: 308, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346385
11.
Dimethyl fumarate dosing in humans increases frataxin expression: A potential therapy for Friedreich's Ataxia.
PLoS One
; 14(6): e0217776, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31158268