Detalhe da pesquisa
1.
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Am J Hum Genet
; 99(1): 217-27, 2016 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374774
2.
Progressive exercise training improves maximal aerobic capacity in individuals with well-healed burn injuries.
Am J Physiol Regul Integr Comp Physiol
; 317(4): R563-R570, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433672
3.
Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.
Ann Neurol
; 83(1): 115-130, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283441
4.
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).
Hum Mol Genet
; 25(11): 2194-2207, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005420
5.
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.
Am J Hum Genet
; 97(2): 319-28, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26189817
6.
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.
Mol Genet Metab
; 122(3): 117-121, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28882528
7.
Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.
Hum Mol Genet
; 18(17): 3194-205, 2009 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19483197
8.
Reproducibility and absolute quantification of muscle glycogen in patients with glycogen storage disease by 13C NMR spectroscopy at 7 Tesla.
PLoS One
; 9(10): e108706, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25296331
9.
The effect of rowing ergometry and resistive exercise on skeletal muscle structure and function during bed rest.
J Appl Physiol (1985)
; 116(12): 1569-81, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24790012
10.
Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein.
J Biol Chem
; 283(18): 12267-75, 2008 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-18334481