Detalhe da pesquisa
1.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
J Inherit Metab Dis
; 44(2): 415-425, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929747
2.
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Rheumatology (Oxford)
; 59(5): 1171-1174, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31665500
3.
Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.
Rheumatology (Oxford)
; 59(5): 1191, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31971592
4.
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Biomed Pharmacother
; 163: 114813, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37150031
5.
FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.
Neurol Genet
; 8(1): e648, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35079622
6.
Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.
Cells
; 9(8)2020 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32722643
7.
Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.
Oncotarget
; 7(24): 35753-35767, 2016 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26840085