Detalhe da pesquisa
1.
Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.
Int J Mol Sci
; 22(6)2021 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33804237
2.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
3.
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Brain
; 135(Pt 11): 3404-15, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23043144
4.
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.
Arch Neurol
; 65(1): 125-31, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18195150
5.
Balanced CoQ6 biosynthesis is required for lifespan and mitophagy in yeast.
Microb Cell
; 4(2): 38-51, 2017 Feb 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28357388
6.
Life-long supplementation with a low dosage of coenzyme Q10 in the rat: effects on antioxidant status and DNA damage.
Biofactors
; 25(1-4): 73-86, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16873932
7.
TK2 mutation presenting as indolent myopathy.
Neurology
; 80(5): 504-6, 2013 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23303857
8.
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene.
Arch Neurol
; 69(5): 657-61, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22782513