Detalhe da pesquisa
1.
ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
Am J Hum Genet
; 93(2): 211-23, 2013 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-23849775
2.
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
Am J Hum Genet
; 90(2): 314-20, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284826
3.
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
J Inherit Metab Dis
; 38(3): 391-403, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25526709
4.
Spectrum of combined respiratory chain defects.
J Inherit Metab Dis
; 38(4): 629-40, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25778941
5.
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Am J Hum Genet
; 89(6): 792-7, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152680
6.
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Am J Hum Genet
; 89(6): 806-12, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152682
7.
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Mol Genet Metab
; 113(4): 301-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25458521
8.
Reduction of nuclear encoded enzymes of mitochondrial energy metabolism in cells devoid of mitochondrial DNA.
Biochem Biophys Res Commun
; 417(3): 1052-7, 2012 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22222373
9.
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
Neuropediatrics
; 43(3): 130-4, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473288
10.
Role of Energy Metabolism and Mitochondrial Function in Inflammatory Bowel Disease.
Inflamm Bowel Dis
; 28(9): 1443-1450, 2022 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35247048
11.
Expression of Oxidative Phosphorylation Complexes and Mitochondrial Mass in Pediatric and Adult Inflammatory Bowel Disease.
Oxid Med Cell Longev
; 2022: 9151169, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35035669
12.
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mol Genet Metab
; 103(4): 358-61, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21596602
13.
Age-Related Deterioration of Mitochondrial Function in the Intestine.
Oxid Med Cell Longev
; 2020: 4898217, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32922652
14.
Changes in the expression of oxidative phosphorylation complexes in the aging intestinal mucosa.
Exp Gerontol
; 135: 110924, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32173460
15.
Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study.
BMC Med Genet
; 10: 35, 2009 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-19383124
16.
Alterations of Oxidative Phosphorylation Complexes in Papillary Thyroid Carcinoma.
Cells
; 7(5)2018 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29747424
17.
Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis.
Oxid Med Cell Longev
; 2017: 1320241, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28744336
18.
Deficiency of respiratory chain complex I in Hashimoto thyroiditis.
Mitochondrion
; 26: 1-6, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26554844
19.
Alterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumors.
Neuro Oncol
; 18(2): 184-94, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26106125
20.
From ventriculomegaly to severe muscular atrophy: expansion of the clinical spectrum related to mutations in AIFM1.
Mitochondrion
; 21: 12-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25583628