Detalhe da pesquisa
1.
Influence of Mitochondrial Genetics on the Mitochondrial Toxicity of Linezolid in Blood Cells and Skin Nerve Fibers.
Antimicrob Agents Chemother
; 61(9)2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28674062
2.
Effect of an ambulatory diagnostic and treatment programme in patients with sleep apnoea.
Eur Respir J
; 39(2): 305-12, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-21719490
3.
Low aerobic capacity in McArdle disease: A role for mitochondrial network impairment?
Mol Metab
; 66: 101648, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36455789
4.
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.
Gene Ther
; 18(8): 795-806, 2011 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-21451581
5.
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
J Med Genet
; 46(1): 64-7, 2009 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19124644
6.
Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.
J Med Genet
; 46(3): 198-202, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19251976
7.
McArdle disease: another systemic low-inflammation disorder?
Neurosci Lett
; 431(2): 106-11, 2008 Jan 31.
Artigo
Inglês
| MEDLINE | ID: mdl-18162322
8.
Mitochondrial DNA oxidation and manganese superoxide dismutase activity in peripheral blood mononuclear cells from type 2 diabetic patients.
Diabetes Metab
; 34(2): 117-24, 2008 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-18291700
9.
McArdle disease: molecular genetic update.
Acta Myol
; 26(1): 53-7, 2007 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-17915571
10.
Can patients with McArdle's disease run?
Br J Sports Med
; 41(1): 53-4, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17000713
11.
Evidence for the presence of 5S rRNA in mammalian mitochondria.
Mol Biol Cell
; 9(9): 2375-82, 1998 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-9725900
12.
[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent]. / Mutaciones privadas en el gen de la miofosforilasa: primer caso en un paciente de origen latinoamericano.
Rev Neurol
; 45(5): 280-3, 2007.
Artigo
Espanhol
| MEDLINE | ID: mdl-17876739
13.
Exercise capacity in a 78 year old patient with McArdle's disease: it is never too late to start exercising.
Br J Sports Med
; 40(8): 725-6; discussion 726, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16864568
14.
Mobilisation of mesenchymal cells into blood in response to skeletal muscle injury.
Br J Sports Med
; 40(8): 719-22, 2006 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-16807304
15.
Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.
Diabetes
; 48(9): 1890-5, 1999 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-10480626
16.
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE.
Neuromuscul Disord
; 15(11): 775-8, 2005 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-16198108
17.
Variable presentation of the clinical phenotype of McArdle's disease in a kindred harbouring a novel compound genotype in the muscle glycogen phosphorylase gene.
Neurosci Lett
; 391(1-2): 28-31, 2005 Dec 31.
Artigo
Inglês
| MEDLINE | ID: mdl-16154688
18.
[Description of a new procedure for fiberoptic bronchoscopy during noninvasive ventilation through a nasal mask in patients with acute respiratory failure]. / Descripción de un nuevo procedimiento para la realización de fibrobroncoscopia durante ventilación no invasiva mediante mascarilla nasal en pacientes con insuficiencia respiratoria aguda.
Arch Bronconeumol
; 41(12): 698-701, 2005 Dec.
Artigo
Espanhol
| MEDLINE | ID: mdl-16373046
19.
Myophosphorylase deficiency (glycogenosis type V; McArdle disease).
Curr Mol Med
; 2(2): 189-96, 2002 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-11949935
20.
Mutations in mtDNA: are we scraping the bottom of the barrel?
Brain Pathol
; 10(3): 431-41, 2000 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-10885662