|1.||Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
|2.||Mitochondrial Myopathies (Mitochondrial Myopathy)
|4.||Retinitis Pigmentosa (Pigmentary Retinopathy)
|1.||Berio, A: 7 articles (05/2013 - 01/2000)|
|2.||Piazzi, A: 7 articles (05/2013 - 01/2000)|
|3.||DiMauro, Salvatore: 6 articles (04/2012 - 09/2002)|
|4.||Montoya, Julio: 5 articles (01/2014 - 02/2006)|
|5.||Ruiz-Pesini, Eduardo: 4 articles (01/2014 - 08/2010)|
|6.||Artuch, Rafael: 4 articles (01/2014 - 02/2006)|
|7.||Bonilla, Eduardo: 4 articles (04/2012 - 09/2002)|
|8.||Schröder, R: 4 articles (09/2005 - 02/2000)|
|9.||Taylor, Robert W: 3 articles (02/2014 - 08/2004)|
|10.||Finsterer, J: 3 articles (07/2012 - 10/2006)|
|1.||coenzyme Q10 (CoQ10)IBA
10/01/1989 - "The objectives of our study were to reproduce morphological and biochemical changes in cultured myotubes of three Kearns-Sayre syndrome (KSS) patients to evidentiate a different mitochondrial susceptibility to 2-4 dinitrophenol (DNP) into normal and KSS muscle cultures, and to investigate the protective effect of ubidecarenone (Q10) on KSS myotubes exposed to DNP. "
01/01/1994 - "Improvement of Kearns-Sayre syndrome with controlled carbohydrate intake and coenzyme Q10 therapy."
01/01/1986 - "We studied the metabolism of coenzyme Q10 (CoQ) and the effects of CoQ therapy in five patients with Kearns-Sayre syndrome (KSS). "
01/01/1986 - "Treatment of Kearns-Sayre syndrome with coenzyme Q10."
03/01/1985 - "In a patient with Kearns-Sayre syndrome, concentration of coenzyme Q10, a component of the mitochondrial electron transport system, was decreased in serum and in the mitochondrial fraction of skeletal muscle. "
11/01/1992 - "The results of the administration of 150 mg/day of ubiquinone for 3 years in a patient diagnosed with the Kearns-Sayre syndrome is described. "
11/01/1992 - "[Treatment with ubiquinone in Kearns-Sayre syndrome. "
03/01/1990 - "Two patients with mitochondrial myopathies presenting as oculocraniosomatic syndromes were treated with coenzyme Q (CoQ). "
02/01/1989 - "Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus."
11/01/1992 - "In 1985 Ogasahara observed that treatment with ubiquinone produced improvement in the cardiac conduction and the metabolism of the lactic and pyruvic acids in the Kearns-Sayre syndrome. "
|4.||Neuropathy ataxia and retinis pigmentosaIBA
04/01/2014 - "In this issue, Gammage and colleagues successfully apply this improved technology on patients' cells with two types of genetic alterations responsible for neuropathy ataxia and retinitis pigmentosa (NARP) syndrome and Kearns Sayre syndrome and progressive external ophthalmoplegia (PEO). "
|5.||Mitochondrial DNA (mtDNA)IBA
10/01/2003 - "A novel 4949-base pair mitochondrial DNA (mtDNA) deletion was detected in various tissues in a postmortem study of a patient with Kearns-Sayre syndrome (KSS). "
02/01/2002 - "The aim of the study is to analyse the impact of mitochondrial DNA (mtDNA) deletions on the mitochondrial energetic metabolism in five patients with Kearns-Sayre syndrome. "
07/01/1995 - "Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study."
08/01/2014 - "Kearns-Sayre syndrome (KSS), resulting from a mitochondrial DNA deletion, is a rare cause of diabetes in children. "
09/01/2013 - "The proportion of ΔmtDNA in various tissues of the surviving mito-miceΔ increased with time, and Kearns-Sayre syndrome-like phenotypes were expressed when the proportion of mtDNA in various tissues reached >70-80%. "
|6.||DNA (Deoxyribonucleic Acid)IBA
02/01/2008 - "Kearns-Sayre syndrome is a rare disorder caused by mitochondrial deoxyribonucleic acid deletion. "
09/01/2013 - "Studies in patients have suggested that the clinical phenotypes of some mitochondrial diseases might transit from one disease to another (e.g., Pearson syndrome [PS] to Kearns-Sayre syndrome) in single individuals carrying mitochondrial (mt) DNA with a common deletion (ΔmtDNA), but there is no direct experimental evidence for this. "
07/01/1998 - "The large scale mutations associated with Kearns-Sayre syndrome and progressive external ophthalmoplegia were found in DNA from muscle only, not leucocyte DNA; whereas point mutations were found in leucocyte DNA. "
01/01/1998 - "We studied muscle DNA of a 12-yr-old patient with incomplete Kearns-Sayre syndrome and hypoparathyroidism. "
07/01/1997 - "A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples."
|7.||Electron Transport Complex IV (Cytochrome c Oxidase)IBA
12/01/1989 - "Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome."
03/01/1998 - "Previous studies of cytochrome c oxidase (complex IV of the respiratory chain) in the heart of a 26-year-old man with longstanding Kearns-Sayre syndrome and fatal congestive cardiomyopathy had revealed the presence of randomly distributed enzyme-deficient cardiomyocytes, both in the contractile and the conducting myocardium. "
09/01/2001 - "Kearns-Sayre syndrome associated with de Toni-Debré-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency."
01/01/1993 - "In contrast, patients with Kearns-Sayre syndrome or chronic progressive external ophthalmoplegia showed abnormal heterogeneity of cytochrome c oxidase activity. "
01/01/1993 - "Abnormalities of cytochrome c oxidase were investigated using microphotometric enzyme assay in 12 patients with Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia, or Leigh's syndrome. "
|8.||Leu Transfer RNAIBA
05/01/2003 - "A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome."
07/01/2001 - "A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome."
07/01/2001 - "To report on the molecular identification of a novel heteroplasmic G-to-A transition at mitochondrial DNA position 3249 in transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. "
09/01/2005 - "In the present study we assessed the prevalence and nature of hearing loss in patients with chronic progressive external ophthalmoplegia (CPEO) or Kearns-Sayre syndrome (KSS) due to single large-scale mitochondrial DNA (mtDNA) deletion or mtDNA tRNA (Leu (UUR)) A3243G point mutation (A3243G PM). "
06/01/1996 - "Analysis of muscle mitochondrial DNA (mtDNA) revealed a 2,532-bp deletion of the type seen in Kearns-Sayre syndrome as well as a heteroplasmic A3243G mutation in the tRNA-Leu(UUR) gene of the type seen in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). "
|9.||Pyruvic Acid (Pyruvate)IBA
10/01/2000 - "Transient improvement of pyruvate metabolism after coenzyme Q therapy in Kearns-Sayre syndrome: MRS study."
03/01/1985 - "Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome."
02/01/1985 - "[A case of Kearns-Sayre syndrome with elevated lactate and pyruvate levels in the cerebrospinal fluid]."
02/01/1984 - "High CSF lactate and pyruvate content in Kearns-Sayre syndrome."
02/01/1984 - "We studied lactate and pyruvate concentrations in CSF and blood of a patient with Kearns-Sayre syndrome (KSS), 3 patients with ocular myopathy and 11 normal control subjects. "
05/01/1991 - "Kearns-Sayre syndrome is due to deletions in the mt DNA, which vary in size and so affect a number of different respiratory enzymes, hence the variable manifestations. "
01/01/1991 - "In muscle biopsies from patients with Kearns-Sayre syndrome, a multisystem disorder characterized by deletions of the mitochondrial DNA (mtDNA), the activities of all mitochondrial enzymes containing mtDNA-encoded subunits are decreased. "
02/01/2000 - "We applied these techniques to study metabolic effects of changes in the pattern of mitochondrial enzymes in skeletal muscle of patients with chronic progressive external ophthalmoplegia or Kearns-Sayre syndrome harbouring large-scale deletions of mitchondrial DNA (mtDNA). "
|2.||Heart Transplantation (Grafting, Heart)
09/01/2005 - "Re: deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia."
05/01/2005 - "Deterioration of Kearns-Sayre syndrome following articaine administration for local anesthesia."
05/01/2005 - "Worsening of the neuromuscular manifestations in Kearns-Sayre syndrome after administering local anesthesia with articaine has not been reported. "
05/01/2005 - "The authors describe a severe adverse reaction to local anesthesia with articaine for tooth extraction in a 28-year-old woman with Kearns-Sayre syndrome due to a 5.9-kb mitochondrial DNA deletion. "
04/01/1995 - "Kearns-Sayre syndrome and cardiac anesthesia."
08/01/1996 - "[Anesthesia in Kearns-Sayre syndrome (mitochondrial myopathy)]."