Detalhe da pesquisa
1.
A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.
Int J Mol Sci
; 24(2)2023 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675256
2.
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
Int J Mol Sci
; 23(9)2022 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563042
3.
Integration of Phenotype Term Prioritization and Gene Expression Analysis Reveals a Novel Variant in the PERP Gene Associated with Autosomal Recessive Erythrokeratoderma.
Genes (Basel)
; 14(7)2023 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37510397
4.
Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions.
PLoS One
; 18(9): e0291442, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37725617
5.
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
Genes (Basel)
; 13(10)2022 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292720