Detalhe da pesquisa
1.
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
Neuroradiology
; 66(3): 389-398, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114794
2.
High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Eur J Neurol
; 30(2): 538-547, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36334048
3.
Pathophysiology of Cerebellar Degeneration in Mitochondrial Disorders: Insights from the Harlequin Mouse.
Int J Mol Sci
; 24(13)2023 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37446148
4.
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
Int J Mol Sci
; 22(11)2021 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070501
5.
The Mitochondrial Isoform of FASTK Modulates Nonopsonic Phagocytosis of Bacteria by Macrophages via Regulation of Respiratory Complex I.
J Immunol
; 201(10): 2977-2985, 2018 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30322967
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.
Soluble fms-like tyrosine kinase-1: a potential early predictor of respiratory failure in COVID-19 patients.
Clin Chem Lab Med
; 59(7): e289-e292, 2021 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33606924
8.
Bulk autophagy, but not mitophagy, is increased in cellular model of mitochondrial disease.
Biochim Biophys Acta
; 1842(7): 1059-70, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24704045
9.
Exercise training can induce cardiac autophagy at end-stage chronic conditions: insights from a graft-versus-host-disease mouse model.
Brain Behav Immun
; 39: 56-60, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24239952
10.
Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.
Hum Mutat
; 34(12): 1623-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24105702
11.
A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome.
BMC Nephrol
; 14: 195, 2013 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24034276
12.
Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects.
Antioxidants (Basel)
; 11(3)2022 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35326160
13.
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
J Neurol
; 269(6): 3238-3248, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35088140
14.
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
Antioxidants (Basel)
; 11(4)2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35453428
15.
Plasma LDH: A specific biomarker for lung affectation in COVID-19?
Pract Lab Med
; 25: e00226, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33898686
16.
Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.
Biomed Res Int
; 2018: 9498140, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29977923
17.
Health Benefits of an Innovative Exercise Program for Mitochondrial Disorders.
Med Sci Sports Exerc
; 50(6): 1142-1151, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29315169
18.
A Case of IL-7R Deficiency Caused by a Novel Synonymous Mutation and Implications for Mutation Screening in SCID Diagnosis.
Front Immunol
; 7: 443, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27833609
19.
COX7A2L Is a Mitochondrial Complex III Binding Protein that Stabilizes the III2+IV Supercomplex without Affecting Respirasome Formation.
Cell Rep
; 16(9): 2387-98, 2016 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545886
20.
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Mitochondrion
; 30: 51-8, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27374853