Detalhe da pesquisa
1.
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor.
Cell Mol Life Sci
; 81(1): 153, 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38538865
2.
Cardiopulmonary exercise testing on adaptive equipment in children and adults with Friedreich ataxia.
Muscle Nerve
; 69(5): 613-619, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38515223
3.
FXN gene methylation determines carrier status in Friedreich ataxia.
J Med Genet
; 60(8): 797-800, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635061
4.
Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.
Pediatr Cardiol
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427090
5.
Methylated and unmethylated epialleles support variegated epigenetic silencing in Friedreich ataxia.
Hum Mol Genet
; 29(23): 3818-3829, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432325
6.
Liquid Chromatography-Mass Spectrometry Analysis of Frataxin Proteoforms in Whole Blood as Biomarkers of the Genetic Disease Friedreich's Ataxia.
Anal Chem
; 95(8): 4251-4260, 2023 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36800320
7.
A Novel Metric for Predicting Severity of Disease Features in Friedreich's Ataxia.
Mov Disord
; 38(6): 970-977, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928898
8.
Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.
Mov Disord
; 38(2): 313-320, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36444905
9.
Reverse Phase Protein Array Reveals Correlation of Retinoic Acid Metabolism With Cardiomyopathy in Friedreich's Ataxia.
Mol Cell Proteomics
; 20: 100094, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991687
10.
Targeting 3' and 5' untranslated regions with antisense oligonucleotides to stabilize frataxin mRNA and increase protein expression.
Nucleic Acids Res
; 49(20): 11560-11574, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718736
11.
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
J Lipid Res
; 63(9): 100255, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850241
12.
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
Ann Neurol
; 89(2): 212-225, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33068037
13.
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia.
Neurobiol Dis
; 148: 105162, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33171227
14.
GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich ataxia cellular models.
Hum Mol Genet
; 28(10): 1594-1607, 2019 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30590615
15.
Mitochondrial dysfunction in the development and progression of neurodegenerative diseases.
Arch Biochem Biophys
; 702: 108698, 2021 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33259796
16.
Designing phase II clinical trials in Friedreich ataxia.
Expert Opin Emerg Drugs
; 26(4): 415-423, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34693848
17.
Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients.
Hum Mol Genet
; 27(17): 2965-2977, 2018 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790959
18.
Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia.
J Neuroophthalmol
; 40(2): 213-217, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31977662
19.
Open-label pilot study of oral methylprednisolone for the treatment of patients with friedreich ataxia.
Muscle Nerve
; 60(5): 571-575, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206761
20.
Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich's Ataxia.
Anal Chem
; 90(3): 2216-2223, 2018 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29272104