Detalhe da pesquisa
1.
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Clin Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38774940
2.
Treatment with anticancer drugs for advanced pancreatic cancer: a systematic review.
BMC Cancer
; 23(1): 748, 2023 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37573294
3.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
4.
The virus that devastated tourism: The impact of covid-19 on the housing market.
Reg Sci Urban Econ
; 95: 103774, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35945933
5.
ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels.
J Cell Sci
; 131(13)2018 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29898916
6.
Novel ATAD3A recessive mutation associated to fatal cerebellar hypoplasia with multiorgan involvement and mitochondrial structural abnormalities.
Mol Genet Metab
; 128(4): 452-462, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727539
7.
Sustained AMPK activation improves muscle function in a mitochondrial myopathy mouse model by promoting muscle fiber regeneration.
Hum Mol Genet
; 25(15): 3178-3191, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27288451
8.
Human COA3 Is an Oligomeric Highly Flexible Protein in Solution.
Biochemistry
; 55(45): 6209-6220, 2016 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27791355
9.
Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage.
Hum Mol Genet
; 23(6): 1399-412, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24154540
10.
MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.
Mol Ther
; 23(10): 1592-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26159306
11.
hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.
J Biol Chem
; 288(12): 8321-8331, 2013 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23362268
12.
Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function.
J Biol Chem
; 287(29): 24174-85, 2012 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22610097
13.
Mitochondrial transcription: lessons from mouse models.
Biochim Biophys Acta
; 1819(9-10): 961-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22120174
14.
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.
Mol Syndromol
; 14(6): 469-476, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38058757
15.
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Mol Syndromol
; 14(3): 201-207, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37323198
16.
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Eur J Hum Genet
; 31(11): 1270-1274, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37684519
17.
Regional and sectorial impacts of the Covid-19 crisis: Evidence from electronic payments.
J Reg Sci
; 62(3): 757-798, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908586
18.
ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly.
Cell Rep
; 37(12): 110139, 2021 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34936866
19.
Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.
JCI Insight
; 5(21)2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33148885
20.
Myopathy reversion in mice after restauration of mitochondrial complex I.
EMBO Mol Med
; 12(2): e10674, 2020 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916679