Detalhe da pesquisa
1.
Mitochondrial DNA from osteoarthritic patients drives functional impairment of mitochondrial activity: a study on transmitochondrial cybrids.
Cytotherapy
; 23(5): 399-410, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33727013
2.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Int J Mol Sci
; 22(24)2021 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948281
3.
Mitochondrial DNA haplogroups influence the risk of incident knee osteoarthritis in OAI and CHECK cohorts. A meta-analysis and functional study.
Ann Rheum Dis
; 76(6): 1114-1122, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27919866
4.
A replication study and meta-analysis of mitochondrial DNA variants in the radiographic progression of knee osteoarthritis.
Rheumatology (Oxford)
; 56(2): 263-270, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27864563
5.
Genome-wide DNA methylation analysis of articular chondrocytes reveals a cluster of osteoarthritic patients.
Ann Rheum Dis
; 73(4): 668-77, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23505229
6.
Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.
Transl Res
; 269: 47-63, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395389
7.
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
Orphanet J Rare Dis
; 17(1): 105, 2022 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35246208
8.
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Genes (Basel)
; 12(8)2021 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440436
9.
Impaired Metabolic Flexibility in the Osteoarthritis Process: A Study on Transmitochondrial Cybrids.
Cells
; 9(4)2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32230786
10.
Differential Association of Mitochondrial DNA Haplogroups J and H With the Methylation Status of Articular Cartilage: Potential Role in Apoptosis and Metabolic and Developmental Processes.
Arthritis Rheumatol
; 71(7): 1191-1200, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30747498