|1.||Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia)
|3.||Mitochondrial Myopathies (Mitochondrial Myopathy)
|4.||Retinitis Pigmentosa (Pigmentary Retinopathy)
|1.||Taylor, Robert W: 17 articles (06/2015 - 09/2003)|
|2.||Zeviani, Massimo: 15 articles (07/2015 - 08/2002)|
|3.||Turnbull, Douglass M: 12 articles (01/2015 - 09/2003)|
|4.||Copeland, William C: 12 articles (09/2014 - 05/2002)|
|5.||Suomalainen, Anu: 11 articles (01/2012 - 01/2004)|
|6.||Chinnery, Patrick F: 10 articles (01/2015 - 12/2003)|
|7.||DiMauro, Salvatore: 9 articles (11/2012 - 09/2002)|
|8.||Moggio, Maurizio: 8 articles (07/2015 - 08/2002)|
|9.||Ronchi, Dario: 7 articles (07/2015 - 05/2010)|
|10.||Sciacco, Monica: 7 articles (05/2015 - 08/2002)|
|1.||Mitochondrial DNA (mtDNA)IBA
12/01/2000 - "This improved procedure has the potential to detect deletions occurring in the entire length of mtDNA, and mighty be useful for clinical screening of progressive external ophthalmoplegia."
09/30/2014 - "The aim of the study was to investigate the relation between progressive external ophthalmoplegia (PEO), visual pathway and mitochondrial DNA (mtDNA) mutations in patients younger than 55 years of age. "
04/01/2007 - "This study underscores the pathogenetic role of human mutant POLG and its gene product in mtDNA depletion, mitochondrial oxidative stress, and CM as it relates to the genetic defect in CPEO. "
06/01/2006 - "Our study provides evidence that the investigation of mtDNA and Twinkle gene mutations in CPEO may help with early diagnosis and prevention of the disease. "
06/01/2006 - "To study the mtDNA deletions and Twinkle gene G1423C point mutation in Iranian patients with CPEO. "
|2.||coenzyme Q10 (CoQ10)IBA
11/12/2003 - "Seventeen patients with mitochondrial CPEO were treated with CoQ10 (dosage: 0.60 1.80 mg/kg body wt) in an open trial. "
08/01/1995 - "To present a case of improvement of ocular motility in a patient with chronic progressive external ophthalmoplegia (CPEO) with Coenzyme Q10. "
06/01/1988 - "We tested the efficacy of coenzyme Q10 (ubidecarenone, CoQ10) therapy in patients with Kearns-Sayre syndrome and other mitochondrial myopathies with chronic progressive external ophthalmoplegia (CPEO). "
|3.||Carnitine (L-Carnitine)FDA LinkGeneric
04/01/2015 - "These results indicate that L-carnitine supplementation may improve aerobic capacity and exercise tolerance during high-intensity CWRs in MM patients with CPEO. "
09/01/1995 - "CPEO and carnitine deficiency overlapping in MELAS syndrome."
04/01/2015 - "Exercise intolerance due to impaired oxidative metabolism is a prominent symptom in patients with mitochondrial myopathy (MM), but it is still uncertain whether L-carnitine supplementation is beneficial for patients with MM. The aim of our study was to investigate the effects of L-carnitine on exercise performance in MM. Twelve MM subjects (mean age±SD=35.4±10.8 years) with chronic progressive external ophthalmoplegia (CPEO) were first compared to 10 healthy controls (mean age±SD=29±7.8 years) before they were randomly assigned to receive L-carnitine supplementation (3 g/daily) or placebo in a double-blind crossover design. "
|5.||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). "
|6.||Electron Transport Complex IV (Cytochrome c Oxidase)IBA
02/01/1993 - ""All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study."
01/01/1983 - "In skeletal muscle biopsies of 8 patients with progressive external ophthalmoplegia combined light and fine structural cytochemical studies of cytochrome-c-oxidase revealed the absence of the enzyme in single fibres with or without accumulation of abnormal mitochondria. "
10/01/1997 - "We report a sporadic case of chronic progressive external ophthalmoplegia that developed during childhood and was associated with ragged-red and cytochrome c oxidase (COX)-negative fibers in skeletal muscle. "
06/01/1995 - "Histochemical analyses of muscle biopsies showed a higher proportion of cytochrome oxidase (COX) negative fibres, but fewer strongly COX reactive fibres, in patients with CPEO compared with those with MELAS. "
04/01/1995 - "Ragged-red fibres were devoid of cytochrome oxidase activity in chronic progressive external ophthalmoplegia, but commonly displayed activity in the other three syndromes providing a clue to syndromal differentiation on a histochemical basis."
|7.||DNA (Deoxyribonucleic Acid)IBA
07/01/2010 - "A well-characterized cohort of 13 CPEO patients harboring a variety of primary and secondary mitochondrial (mt)DNA defects was studied. "
06/01/2009 - "We report an original case of simultaneous deletion and duplication of chromosome 4q, confirmed by SNPs-array analysis of DNA, and characterized by a previously unreported association between optic nerve hypoplasia and progressive external ophthalmoplegia."
11/01/2003 - "The 8-OHdG/dG ratios in total DNA of muscle biopsies from three CPEO patients were much higher than those of age-matched controls as determined by high performance liquid chromatography (HPLC). "
11/01/1998 - "We found a unique deletion in a patient with CPEO and we identified the precise location of this deletion through DNA sequencing. "
03/01/2014 - "Autosomal dominant progressive external ophthalmoplegia (adPEO) is a common adult onset mitochondrial disease caused by mutations in nuclear DNA (nDNA). "
|8.||Ile Transfer RNAIBA
10/01/2014 - "Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype."
05/01/2011 - "Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia."
01/15/2011 - "A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia."
11/01/2007 - "Chronic progressive external ophthalmoplegia caused by an m.4267A > G mutation in the mitochondrial tRNAIle."
02/04/1998 - "We report a new mutation, a G to A transition at nucleotide position 4298 within the mitochondrial tRNA(Ile) gene in a patient with chronic progressive external ophthalmoplegia and multiple sclerosis. "
|9.||Tyr Transfer RNAIBA
12/26/2001 - "CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene."
10/01/2001 - "Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia."
12/01/1997 - "This tRNA-Tyr mutation is tightly associated with CPEO."
12/01/1997 - "[A mitochondrial DNA mutation in the heteroplasmic tRNA-Tyr gene associated with chronic progressive external ophthalmoplegia--clinical and molecular biological study]."
12/26/2001 - "In the muscle biopsy of a female patient with chronic progressive external ophthalmoplegia (CPEO), myopathy, and exercise intolerance, the heteroplasmic deletion of a single nucleotide (DeltaT5885) in the mitochondrial tRNA tyrosine gene (tRNA(Tyr)) was found. "
04/01/2005 - "Phosphorus magnetic resonance spectroscopic studies in bipolar disorder revealed altered brain energy metabolism resembling that of chronic progressive external ophthalmoplegia (CPEO). "
06/01/2014 - "The purpose of this study was to evaluate the energy metabolism and mitochondrial function in skeletal muscle from patients with Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) or chronic progressive external ophthalmoplegia (CPEO) using phosphorus magnetic resonance spectroscopy ((31)P-MRS), to determine whether abnormally increasing cytochrome c oxidase (COX), as detected in muscle biopsy, could be a cause for MELAS. "
07/01/1995 - "A woman affected by chronic progressive external ophthalmoplegia and muscle mitochondrial DNA deletion was studied by phosphorus magnetic resonance spectroscopy (31P-MRS) prior to and after 1 and 7 months of treatment with oral lipoic acid. "
|1.||Mechanical Ventilators (Ventilator)
11/01/1990 - "We report here a clinico-pathologic study of a 51-year-old patient with sporadic ALS who developed progressive external ophthalmoplegia 3 years after he remained on a respirator and died 5 years later, 13 years after the onset of his illness. "
01/01/1992 - "We describe two patients with sporadic amyotrophic lateral sclerosis (ALS), who had developed progressive external ophthalmoplegia of a predominantly supranuclear type while they survived on respirators, and displayed histopathological abnormalities both typical and atypical of ALS. "
05/01/2014 - "After excluding known causes, whole exome sequencing, targeted Sanger sequencing and multiplex ligation-dependent probe amplification analysis were used to study 68 adult patients with progressive external ophthalmoplegia either with or without multiple mitochondrial DNA deletions in skeletal muscle. "
01/01/2011 - "Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO)."
12/12/1995 - "Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia."
12/12/1995 - "The functional behavior of mitochondria in skeletal muscle of patients with chronic progressive external ophthalmoplegia was studied by laser-excited fluorescence measurements of NAD(P)H and flavoproteins in saponin-skinned fibers. "
09/01/1997 - "The mitochondrial function in skeletal muscle biopsies of three patients with chronic progressive external ophthalmoplegia, having deletions of the mitochondrial DNA, was studied by laser-excited fluorescence measurements of NAD(P)H and flavoproteins in saponin-skinned fibers. "
11/01/2012 - "Clinical presentations were variable, including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis in a young female who had received a liver transplant at 9 months of age and adult-onset lower motor neuron syndrome with mild cognitive impairment. "
|5.||Heart Transplantation (Grafting, Heart)