Detalhe da pesquisa
1.
Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria.
Brain
; 147(1): 91-99, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37804319
2.
Correction of a knock-in mouse model of acrodysostosis with gene therapy using a rAAV9-CAG-human PRKAR1A vector.
Gene Ther
; 29(7-8): 441-448, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34599290
3.
Cerebrospinal fluid exposure to bictegravir/emtricitabine/tenofovir in HIV-1-infected patients with CNS impairment.
J Antimicrob Chemother
; 76(12): 3280-3285, 2021 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508640
4.
Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.
Mol Genet Metab
; 132(1): 38-43, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309011
5.
Characteristics of Dolutegravir and Bictegravir Plasma Protein Binding: a First Approach for the Study of Pharmacologic Sanctuaries.
Antimicrob Agents Chemother
; 64(11)2020 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32868324
6.
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Mol Genet Metab
; 131(1-2): 107-113, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933822
7.
Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.
J Am Soc Nephrol
; 30(8): 1534-1545, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31285285
8.
Droplet digital PCR combined with minisequencing, a new approach to analyze fetal DNA from maternal blood: application to the non-invasive prenatal diagnosis of achondroplasia.
Prenat Diagn
; 36(5): 397-406, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26850935
9.
Targeting mitochondrial function in macrophages: A novel treatment strategy for atherosclerotic cardiovascular disease?
Pharmacol Ther
; 247: 108441, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37201736
10.
Cholesterol accumulation induced by acetylated LDL exposure modifies the enzymatic activities of the TCA cycle without impairing the respiratory chain functionality in macrophages.
Biochimie
; 200: 87-98, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35618159
11.
Distinct phospholipid and sphingolipid species are linked to altered HDL function in apolipoprotein A-I deficiency.
J Clin Lipidol
; 13(3): 468-480.e8, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31003938
12.
Dolutegravir Cerebrospinal Fluid Diffusion in HIV-1-Infected Patients with Central Nervous System Impairment.
Open Forum Infect Dis
; 6(6): ofz174, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-31198814
13.
Murine platelet production is suppressed by S1P release in the hematopoietic niche, not facilitated by blood S1P sensing.
Blood Adv
; 3(11): 1702-1713, 2019 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31171507
14.
Evidence that MRP4 is Only Partly Involved in S1P Secretion during Platelet Activation.
Thromb Haemost
; 118(6): 1116-1118, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29669387