The most recent information on C10orf2 is here. Click here for the function of C10orf2. Edit this page in Wiki Genes - C10orf2 or see Wiki Gene. Progressive external ophthalmoplegia and myositis. Paper-7655137. Polyneuropathy in progressive external ophthalmoplegia. Paper-4208272. PEO flocculation with phenolic microparticles. Paper-10959616. Congenital myopathy with progressive external ophthalmoplegia. Paper-6205928. Serum lactate levels at rest are good predictors of fatigue in PEO. Paper-537336. The same bands were translocated in cell line PEO1 (hypertriploid). Paper-7998871. He had a cerebellar ataxia with PEO and multiple mtDNA deletions in muscle. Paper-8423410. Mitochondrial myopathy with chronic progressive external ophthalmoplegia. Paper-9520268. Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. Paper-1295653. A woman with PEO and mental retardation had a heterozygous Gly1076Val mutation. Paper-10039469. Impaired glucose effectiveness in chronic progressive external ophthalmoplegia. Paper-9472760. Familial progressive external ophthalmoplegia with abnormal muscle mitochondria. Paper-2759359. A small amount of water in Pluronic P104 can induce the PEO block amorphism. Paper-11438026. Fluorescence study of aggregation in water of PEO-grafted polydiphenylamine. Paper-11431608. Progressive external ophthalmoplegia: a paraneoplastic manifestation of lymphoma. Paper-9270669. Ocular myopathy ( progressive external ophthalmoplegia) with neuropathic complications. Paper-2691596. Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. Paper-825504. An autopsy case of chronic progressive external ophthalmoplegia with renal insufficiency. Paper-13516695. Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. Paper-788739. The condition known as Ocular Myopathy or Progressive External Ophthalmoplegia is reviewed. Paper-2691596. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Paper-11260188. Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. Paper-11803453. Mitochondrial gene defect in patients with chronic progressive external ophthalmoplegia. Paper-11649571. This investigation confirmed the high frequency of mtDNA deletions or point mutations in PEO. Paper-430264. Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Paper-11288873. Retinal degeneration without pigment alterations in progressive external ophthalmoplegia. Paper-2691837. A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. Paper-1690229. XPS analysis revealed enrichment of PEO segments of Pluronic F127 at the membrane surface. Paper-11463311. Progressive external ophthalmoplegia with hereditary sensory neuropathy: a rare association. Paper-11125776. The results show that a dependence on molecular weight is found below 1500 g mol-1 for linear PEO. Paper-7992337. A patient with Friedreich's disease and chronic progressive external ophthalmoplegia is descirbed. Paper-2885826. Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia. Paper-13614442. In PEO4 and PEO1 cells, proliferation was stimulated by 17beta-estradiol in a dose-dependent manner. Paper-8801878. Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. Paper-5900022. Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. Paper-12130976. Chronic progressive external ophthalmoplegia is now considered as one type of mitochondrial diseases. Paper-1342924. Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. Paper-525149. On the water interface, the larger the molecular weight of PEO was, the higher the surface enrichment. Paper-9081116. Multimodal evoked potentials in progressive external ophthalmoplegia with mitochondrial myopathy. Paper-7010321. Chronic progressive external ophthalmoplegia. I. A quantitative histochemical study of skeletal muscles. Paper-5995669. Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. Paper-13675425. Structure-Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia. Paper-12764258. It appears that the shape of the PEO in NEMP coexistence curves is similar from that of pure NE + MP. Paper-11518652. Mitochondrial disease with chronic progressive external ophthalmoplegia: clinical analysis of 19 cases. Paper-8088318. PEO patients with this mutation can further develop parkinsonism or premature ovarian failure. Paper-12531326. AIMS: To study the mtDNA deletions and Twinkle gene G1423C point mutation in Iranian patients with CPEO. Paper-12051817. Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia. Paper-1254327. Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia. Paper-6181290. Morphometric and biochemical study of muscle mitochondria in adult chronic progressive external ophthalmoplegia. Paper-6099520. Moreover, it reveals that the PEO blocks play a more important role in the micellar crystallization process. Paper-13545161. Biological markers of oxidative stress in mitochondrial myopathies with progressive external ophthalmoplegia. Paper-7173575. This evidence suggests that chronic progressive external ophthalmoplegia is a diffuse disease of the mitochondria. Paper-2691836. A patient with chronic progressive external ophthalmoplegia contracted cutaneous leishmaniasis of the upper eyelid. Paper-7165910. Progressive External Ophthalmoplegia and Vision and Hearing Loss in a Patient With Mutations in POLG2 and OPA1. Paper-12690761. Diplopia, although unusual, does occur in progressive external ophthalmoplegia with mitochondrial myopathy. Paper-3857653. A 17-year-old boy had progressive external ophthalmoplegia, normal visual acuity, and a pigmentary retinopathy. Paper-2456984. Notably, we identify conserved primase motifs including the zinc finger in all Twinkle sequences outside of Metazoa. Paper-12002375. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Paper-11510337. When associated with liposomes, the PEO moiety of the block co-polymer is expected to inhibit liposome-cell adhesion. Paper-9367135. Onset occurs before age 20, and is manifest as chronic progressive external ophthalmoplegia and retinal degeneration. Paper-11122475. For matrices comprising PEO chains with molecular weights below 3400, no soft-segment crystallinity was detected. Paper-5580736. Peripheral neuropathy in the course of PEO is regarded as a further although rare aspect of a multisystem disease. Paper-4208272. Familial cases of progressive external ophthalmoplegia, deafness, generalized weakness, and hypogonadism were studied. Paper-3753257. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. Paper-6748036. Ocular findings consist of bilateral ptosis, chronic progressive external ophthalmoplegia, and pigmentary retinopathy. Paper-7435076. Thereafter, he developed short stature, pigmentary retinopathy, progressive external ophthalmoplegia, and ataxia. Paper-2047996. A novel heteroplasmic tRNA(Leu(CUN)) mtDNA point mutation associated with chronic progressive external ophthalmoplegia. Paper-10791301. The mutation was identified in three siblings with PEO, one of them additionally suffered from schizoaffective disorder. Paper-11202644. At low surface pressures (<10 mN/m), the surface viscoelasticity is identical to that of PEO homopolymer films. Paper-11324380. Autosomal dominant and/or recessive progressive external ophthalmoplegia (ad/arPEO) is associated with mtDNA mutagenesis. Paper-10211281. PEO-1-conditioned medium (CM) also stimulated THP-1 cells or isolated peripheral blood monocytes to produce proMMP-9. Paper-1552046. Cystoid macular edema in a patient with chronic progressive external ophthalmoplegia with mitochondrial myopathy. Paper-13591509. The copolymers contained PEO blocks with molecular weights ranging between 5600 and 23,800 and with 16-47 wt% of PLA. Paper-13135844. RESULTS: A 43-year-old man presented with a Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis ( SANDO). Paper-10242170. We analyzed 29 patients with progressive external ophthalmoparesis ( PEO) either alone or as part of a multisystem disorder. Paper-1478792. Isothermal crystallization of a high molecular weight PEO (Mw=4,000,000) has been investigated using photoDSC. Paper-13208244. Using growth inhibition assays, we determined that the PEO4 line was almost 5-fold more resistant to 5-FU than the PEO1 line. Paper-6821003. Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia. Paper-537336. Additionally, the hydrolysis degradation of PEO blocks is observed in strong acid concentrations at higher temperatures. Paper-12318278. A retrospective study of the electroencephalographic patterns in 26 adults with chronic progressive external ophthalmoplegia. Paper-4373432. It is found that supercoiling has only a limited influence on the critical amount of PEO needed to condense plasmid DNA. Paper-13478535. Chronic progressive external ophthalmoplegia. II. A qualitative and quantitative electronmicroscopy study of skeletal muscles. Paper-5995670. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Paper-7250009. These comparisons suggest that protein binding is controlled by the extension of the PEO tethers away from the interface. Paper-12772685. Progressive external ophthalmoplegia and myopathy are the most common features in adults, and cognitive impairment is rare. Paper-9361649. Four of the cell lines, PEO1, PEO4, PEO6, and PEO16, have been xenografted into immune-deprived mice and found to be tumorigenic. Paper-5912638. In 10 mM NaCl, an adsorbed PEO layer is required to prevent flocculation, and particles are stabilized by steric repulsions. Paper-11526675. MRI in the 2 PEO patients showed lesions bilaterally in the basal ganglia in one, and in the internal capsules in the other. Paper-304865. Central and peripheral nervous system conduction in mitochondrial myopathy with chronic progressive external ophthalmoplegia. Paper-8243417. In this study we have investigated whether mtDNA point mutations are involved, directly or indirectly, in the pathogenesis of PEO. Paper-11260188. Hirano bodies in the axon of peripheral nerves in a case with progressive external ophthalmoplegia with multisystemic involvements. Paper-3471374. Chronic asymmetric progressive external ophthalmoplegia with right facial weakness: a unique presentation of mitochondrial myopathy. Paper-9494735. In the second part of the study, the potential of HPbetaCD-containing PEO tablets as buccal delivery system for CAR was tested. Paper-12151741. A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Paper-1889532. A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. Paper-13428020. Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism. Paper-2658516. These would include individuals with chronic progressive external ophthalmoplegia, third nerve paralysis, and myasthenia gravis. Paper-3911232. A large Swedish family with members affected by progressive external ophthalmoplegia with hypogonadism were followed-up and reviewed. Paper-788739. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Paper-416078. Co-culture of human ovarian cancer cells ( PEO-1) and a monocytic cell line (THP-1) led to production of 92-kDa proMMP-9. Paper-1552046. Other features including hearing loss, recurrent headaches, ptosis, progressive external ophthalmoplegia, and depression were present. Paper-11463634. Three patients with chronic progressive external ophthalmoplegia of adult-onset, generalized muscle atrophy and myalgia are described. Paper-217480. The micelles composed of this type of copolymer had such a structure that both ends of the PEO chain were anchored to the micelle. Paper-9510122. Five patients with PEO had mutations: 2 were compound heterozygotes, 1 was homozygous, and another showed a mutation in a single allele. Paper-10814703. Ions now no longer complex to PEO; instead, hydrogen bonding of water to the polymer strongly dictates conformation in this regime. Paper-10865832. A computer-aided investigation into the role of hydrogen bonding in the binding conformation of the endo-ethenotetrahydrooripavine, PEO. Paper-7152002. In this case, a novel heterozygous missense mutation F485L was identified in the nuclear encoded putative mitochondrial helicase Twinkle. Paper-10347629. LAA in the frontal lobes and occipital lobes may be SPECT findings characteristic of Leigh syndrome and PEO, respectively. Paper-304865. To our knowledge, a syndrome mimicking progressive external ophthalmoplegia had never been reported preceding the diagnosis of a lymphoma. Paper-9270669. SUMMARY OF BACKGROUND DATA: Animal studies demonstrated that Oxiplex/SP Gel (CMC/ PEO) reduced epidural fibrosis after lumbar surgery. Paper-9889607. This study presents the application of novel PEO/chitin/ chitosan scaffolds for the cultivation of bovine knee chondrocytes (BKCs). Paper-13031465. PEO ( molecular weight 3,400), modified by tolylene diisocyanate, was covalently coupled as a spacer group, followed by heparin. Paper-7381727. The interpenetrating PEO chains belonging to different micelles causes the depletion of the solvent in the outer layer of micelles. Paper-10872536. The Twinkle protein appears to have evolved from an ancestor shared with the bifunctional primase-helicase found in the T-odd bacteriophages. Paper-12002375. The long spacing determined by small-angle X-ray scattering shows an increase in the hydrophilic domain size with increasing PEO content. Paper-9610434. A quasi-reversible redox reaction of the PEO-Hb was found in PEO oligomers by alternatingly changing the potential polarity (+/- 1.2 V vs Ag). Paper-163169. We have studied ragged-red fibres in the muscle biopsies of 3 adults; one with polymyositis and two with progressive external ophthalmoplegia. Paper-2963016. This article describes a 37-year-old woman with progressive external ophthalmoplegia, peripheral neuropathy, and chronic intractable diarrhea. Paper-8248697. When the alpha-CD/hydrophobe molar ratio exceeded 5.0, the viscosity was close to that of a PEO solution of similar molecular weight. Paper-12402314. Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia. Paper-4994028. The PEO-Hb showed redox reactions in PEO200 even at 120 degrees C. PEO modification was concluded to give the thermal stability in some extent. Paper-163169. The oculoskeletal symptoms of the present cases resemble those of chronic progressive external ophthalmoplegia, a type of mitochondrial disease. Paper-9167726. The syndrome is characterized by chronic progressive external ophthalmoplegia, tapetoretinal degeneration, and severe generalized myopathy. Paper-9885506. Autosomal dominant progressive external ophthalmoplegia is a mitochondrial disorder characterized by multiple large deletions of mitochondrial DNA. Paper-9215589. Chronic progressive external ophthalmoplegia is a mitochondrial disease associated with deletions of mtDNA or by point mutation of tRNA genes. Paper-8663600. A case of progressive external ophthalmoplegia (Kiloh-Nevin type) with abnormal mitochondria. Clinical, histochemical and ultrastructural findings. Paper-2759360. Chronic progressive external ophthalmoplegia associated with a pigmentary retinopathy and heart block was described by Kearns & Sayre in 1958. Paper-2336905. Following the leaching of PEO fraction, the permeability and interconnectivity among the macropores formed by salt leaching could be observed. Paper-13127495. A novel 7.4 kb mitochondrial deletion in a patient with congenital progressive external ophthalmoplegia, muscle weakness and mental retardation. Paper-8325719. Chronic progressive external ophthalmoplegia ( CPEO) is a rare clinical syndrome characterized by slowly progressive paralysis of extraocular muscles. Paper-6393555. Mitochondrial myopathy is the commonest morphological diagnosis in the patients with the syndrome of chronic progressive external ophthalmoplegia. Paper-8088318. Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study. Paper-4246037. SUBJECTS: Members of a 3-generation family followed up in a neuromuscular disease center for dominantly inherited progressive external ophthalmoplegia. Paper-13304294. This novel behavior is attributed to hydrogen-bonding complexation between the undissociated carboxylic acids and the PEO, forming very compact layers. Paper-13636467. Moreover, large extensibility of the scaffolds occurred at the following range of the composition: PEO > 37.5%, chitin < 25%, and chitosan <62.5%. Paper-13031465. Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions. Paper-7195286. In support of this idea, ditercalinium chloride co-localizes with Twinkle, a mitochondrial helicase and is assumed to associate with mitochondrial DNA. Paper-9979253. The proportion 50/50 PLLA/ PEO blend was adequate to promote this porous morphology, which resulted in gradual bone tissue growth into the implant. Paper-12765282. It was concluded that the inflammatory myopathy, myositis clinically localized at the ocular muscles, is an important and distinct disorder in PEO. Paper-7655137. False aneurysm of the cavernous carotid artery and progressive external ophthalmoplegia after transsphenoidal hypophysectomy. Case report. Paper-3258826. Progressive external ophthalmoplegias ( PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. Paper-8848224. Patients were adults with PEO and symptoms including myopathy, neuropathy, dysarthria or dysphagia, sensory ataxia, and parkinsonism. Paper-13747191. The PEO core was swelled with KAuCl4 in N,N-dimethylformamide (DMF), and gold nanoparticles were subsequently obtained by reduction with NaBH4. Paper-11464561. Four unrelated patients presented with a severe sensory ataxic neuropathy in association with dysarthria and chronic progressive external ophthalmoplegia. Paper-1118975. Human extraocular muscles in mitochondrial diseases: comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy. Paper-11169100. Better chondrogenesis was obtained at the following range of the composition: 25% < PEO < 40%, 12.5% < chitin < 37.5%, and 30% < chitosan < 50%. Paper-13031465. In contrast with typical KSS, the clinical picture of this patient did not include either palpebral ptosis or PEO and was dominated by an ataxic syndrome. Paper-12023470. At low concentrations of PEO, the free chains permeate into the microgel particles and cause an increase in osmotic pressure, expanding the particles. Paper-12132506. A series of polymers with constant PEO molecular weight of 8900Da and PLA molecular weight varying in the range of 4100-6500Da were examined. Paper-11842623. We report two sisters (32 and 36 years old) with familial deaf-mutism, progressive external ophthalmoplegia, leukodystrophy and mitochondrial myopathy. Paper-374494. The case of a 66-year-old woman with progressive external ophthalmoplegia and involvement of the proximal muscles of the upper and lower limbs is described. Paper-3927332. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Paper-8848226. The adhesion of NIH-3T3 fibroblast cells was shown to be significantly affected by the surface coverage of PEO nano-domains formed by copolymer self-assembly. Paper-13644029. With an increasing molecular weight of PEO acid, the separation factor for water permselectivity increased, but the permeation rate almost did not change. Paper-9790117. A 43-year-old woman with progressive external ophthalmoplegia developed a bifascicular block and dilatation of the right ventricle during 4 years of follow-up. Paper-6667973. Moreover, time course studies demonstrated that the accumulated 5-FU in the DNA of the PEO4 cells was more rapidly removed compared with that in the PEO1 cells. Paper-6821003. Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status. Paper-585655. Multimodal evoked potentials were studied in 13 patients affected by progressive external ophthalmoplegia with histologically proven mitochondrial myopathy. Paper-7010321. CONCLUSIONS: Chronic progressive external ophthalmoplegia may have clinical characteristics similar to those of myasthenia gravis or thyroid ophthalmopathy. Paper-983061. Near-infrared spectroscopy in chronic progressive external ophthalmoplegia: adipose tissue thickness confounds decreased muscle oxygen consumption. Paper-9372160. A 58-year-old white man with chronic progressive external ophthalmoplegia developed proptosis and an improvement in his ptosis from a mass in the superior orbit. Paper-5156598. RESULTS: We identified a heterozygous G1121A mutation (R374Q) in exon 1 of Twinkle that segregated with the disease phenotype in all affected family members. Paper-13304294. Donut-shaped PEO tablets with a hole provide zero-order release kinetics because the effect of the releasing surface area on the release kinetics is reduced. Paper-427175. Third degree atrioventricular block, chronic progressive external ophthalmoplegia and pigmentary degeneration of retina. Case report and survey of the literature. Paper-3172424. The bioactivity of immobilized heparin was approximately 16.2%, relative to free heparin, and nearly 1:1 binding between heparin and PEO was calculated. Paper-7381727. This allele is expressed at a reduced level, causing the preponderance of messenger RNAs encoding Y508C polypeptides and thus leads to the IOSCA disease phenotype. Paper-11510337. Only three clinical features were significantly associated with an mtDNA mutation: progressive external ophthalmoplegia, myopathy, and pigmentary retinopathy. Paper-1584318. At higher concentrations of PEO, the particles are saturated and an increase in osmotic pressure in the external phase causes the particles to collapse again. Paper-12132506. The systems consisted of model drug, mannitol (osmotic agent), and increasing amounts of PEO surrounded by a semipermeable membrane drilled with a delivery orifice. Paper-9251253. Twitch response of striated muscle in patients with progressive external ophthalmoplegia, mitochondrial myopathy and focal cytochrome c-oxidase deficiency. Paper-384407. Three patients with mitochondrial myopathies and progressive external ophthalmoplegia had repeated episodes of respiratory failure requiring assisted ventilation. Paper-6596968. The adsorption behavior of PU-PEO-SO3 is attributed to both effect of low binding affinity of PEO chain and high affinity of pendant sulfonate group toward fibrinogen. Paper-7629579. Mutations in the PEO1 gene, which encodes TWINKLE, cause autosomal dominant progressive external ophthalmoplegia (AdPEO), a disorder associated with deletions in mtDNA. Paper-12764258. Thus, the regeneration of cartilaginous components could be manipulated simply by controlling the composition of PEO, chitin, and chitosan in the hybrid scaffolds. Paper-13031465. Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. Paper-9662454. The polyurethane containing PEO was found to exhibit substantial mass and molecular weight loss over 56 days resulting in a porous material of little strength. Paper-1416521. Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia. Paper-7284236. Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia. Paper-459367. However, at pH 3, the force is attractive, which we assign to the hydrogen bonding between the ether oxygen of the PEO and the hydrogen of the carboxylic acid group. Paper-13654269. Brain metabolic profiles obtained by proton MRS in two forms of mitochondriopathies: Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia. Paper-1525174. This may be a possible association in the same family of two diseases: progressive external ophthalmoplegia and dominant optic atrophy with progressive hearing loss. Paper-4946341. The decrease in the particle size (described by hydrodynamic diameter: Dh) upon increasing temperature was observed because of the diminishing hydrophilicity of PEO. Paper-12419617. Histochemical investigations were carried out on skeletal muscle biopsies from ten patients with chronic progressive external ophthalmoplegia with ragged-red fibers (RRF). Paper-5900022. We describe a 16-year-old girl with delayed motor milestones and onset of progressive external ophthalmoplegia at age 3 years and proximal muscle weakness at age 10 years. Paper-6205928. This behavior is attributed to interactions between divalent cations and oxygen in PEO backbones close to the micelle core, which may reinforce intermicellar bridges. Paper-11438024. In pure water, kinetically frozen micelles with a core composed of a soft PI inner part and a hard P2VP outer shell and protected by a neutral PEO corona were formed. Paper-10951623. Inflammatory pseudotumor of the levator muscle is extremely unusual and has not been reported previously in patients with chronic progressive external ophthalmoplegia. Paper-5156598. Combined treatment further reduced cell numbers in PEO1 cultures, demonstrating that dual therapy aimed at both aspects of cell regulation has a greater anti tumour action. Paper-2007347. CONCLUSION: 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. Paper-12051817. We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol. Paper-1295653. In vitro the molecular weight of the rods and films started to decrease immediately, but the PEOT (or PEO) proportion remained relatively constant for 26 weeks. Paper-9344834. A range of PEO solutions with different viscosities and molecular weights was used and the deformation of each drop during impact was observed using a high speed camera. Paper-13571905. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Paper-1336607. Sulfonations using propane sultone were performed directly onto PU or onto hydrophobic dodecanediol (DDO) grafted PU or onto hydrophilic poly(ethyleneoxide) ( PEO) grafted PU. Paper-7752410. A partial deficiency of cytochrome oxidase has been found in 7 patients with chronic progressive external ophthalmoplegia and proximal myopathy or craniosomatic abnormalities. Paper-4351347. The preoperative diagnoses included severe congenital ptosis (83%), blepharophimosis (10%), third nerve palsy (4%), and chronic progressive external ophthalmoplegia (3%). Paper-1478981. As the crystallization temperature Tx increased, the PEO or PLLA lamellar crystal thickness d(L) increased as well as the reduced tethering density sigma; of the PS chains. Paper-10534477. PURPOSE: To report the findings of cystoid macular edema in a patient with chronic progressive external ophthalmoplegia and other systemic features of mitochondrial myopathy. Paper-13591509. For cleaned coated PS particles it was found that the PEO chain length and the molecular structure of the block copolymer were important in preventing protein adsorption. Paper-1119286. A case of PEO in a 60-year-old man who responded to retinoid plus PUVA (Re-PUVA) treatment is reported here and a review of the therapy with other relevant cases is presented. Paper-10467039. Multiple deletions of mitochondrial DNA have been detected by Southern blotting in the skeletal muscle of a 42-year-old woman with chronic progressive external ophthalmoplegia. Paper-390873. Progressive external ophthalmoplegia, pigmentary retinopathy and right bundle branch block were present when he experienced the first 'stroke-like' episode at 18 years old. Paper-1668799. The calculated magnitude of swelling and the effect of PEO molecular weight are, at least qualitatively, in agreement with the experimental observations reported elsewhere. Paper-12132506. CONCLUSION: This finding broadens the clinical spectrum of Twinkle gene mutations and further implicates loss of mitochondrial DNA integrity in the pathogenesis of Parkinson disease. Paper-13304294. This series of patients illustrates the large array of clinical presentations associated with mtDNA stability defects, ranging from isolated benign PEO to fatal Alpers syndrome. Paper-12153174. The emissions of the PDPA-g-PEOs occurred in the range from 360 to 700 nm and were dependent on their concentrations, PEO chain length, extent of oxidation, pH, and temperature. Paper-11431608. Linkage analysis excluded the chromosome 10q23.3-q24.3 region reported as being linked to the disease in a Finnish family with autosomal dominant progressive external ophthalmoplegia. Paper-788739. Optical intensity reflected at 750 nm by Reichardt's betain dye-polymer ( PMMA or PEO) composite increased with an increase in humidity and was not affected by ammonia vapor. Paper-12805811. A systematic conformational search on the cyclic peptide afforded four allowable sets of conformers whose side chain of the phenylalanine residue coincided with the vector map of PEO. Paper-5311664. The method is based on the dissolution of LiCF(3)SO(3) in anhydrous ethanol at room temperature and subsequently dissolution of PEO in water for the separation of gamma-LiAlO(2). Paper-12813303. CASE REPORT: A 63-year-old man developed progressive external ophthalmoplegia, without any other neurological symptoms, as the initial manifestation of a follicular lymphoma grade III. Paper-9270669. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is another autosomal recessive disorder associated with PEO and multiple deletions of mitochondrial DNA in skeletal muscle. Paper-9909680. CONCLUSION: Both autosomal dominant progressive external ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma. Paper-13176746. Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia. Paper-494990. We present a method for patterning neural stem cells based on pre-patterning polypeptides on a cell-repellent surface (poly(ethylene) oxide-like, PEO-like, plasma-deposited films). Paper-13047677. This is consistent with the view that PEO is a clinical syndrome, i.e. the expression of various defects affecting primarily or secondarily the energy metabolism of the muscular tissue. Paper-4393307. Accordingly, we propose that Twinkle likely serves as the primase as well as the helicase for mtDNA replication in most eukaryotes whose genome encodes it, with the exception of Metazoa. Paper-12002375. The dominant factor on addition of salt was generally the reduced solvency of PEO, which resulted in a further increase in the layer thickness but in some cases caused flocculation. Paper-12873661. Of the remaining cases, four had an encephalomyopathy with deafness, ataxia and dementia, two had syndromes with progressive external ophthalmoplegia and two had limb weakness alone. Paper-278754. An increase in basal d(001)-spacings demonstrates successful intercalation of PEO in all samples, and X-ray line narrowing shows that this intercalation improves the layer stacking order. Paper-12101356. ( 1)H NMR and FTIR studies showed that the physical entrapment and/or hydrogen bonding by PEO in the interior and branch of the dendrimer are the mechanisms of encapsulation. Paper-11799730. Casting from acetone, which is an excellent solvent for PLA, resulted in hard blocks exhibiting lower degrees of crystallinity, while methanol had a similar effect on PEO soft segments. Paper-5580736. The synthesized PEO-grafted polylysine, PLL-PEO20000, did not induce peptide demixing monitored by stabilization of the gramicidin channels, in contrast to parent polylysine (PLL). Paper-12257742. Hence, he may have a pathogenetic mechanism in common with CPEO (chronic progressive external ophthalmoplegia) or mitochondria-related autoimmune disorder associated with mononeuropathy. Paper-10458735. We identified two patients with progressive external ophthalmoplegia, a mitochondrial disease, who harbored a population of partially deleted mitochondrial DNA (mtDNA) with unusual properties. Paper-26768. Autosomal dominant progressive external ophthalmoplegia is a common neurological presentation of mitochondrial disease and is characterised by multiple deletions of mitochondrial DNA in muscle. Paper-9965056. We report here a new phenotype in two siblings with compound heterozygous Twinkle mutations (A318T and Y508C), characterized by severe early onset encephalopathy and signs of liver involvement. Paper-12531131. The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar dysarthria, spastic paraplegia and finally facial and bulbar weakness. Paper-6001695. This second patient with G12315A and progressive external ophthalmoplegia confirms the pathogenicity of the mutation and helps to define the correlation between genotype and phenotype. Paper-9277934. A family was found to exhibit progressive external ophthalmoplegia, congenital cataracts, variable somatic weakness, gonadal dysgenesis, and, in one member, an abnormal chromosomal pattern. Paper-3350478. A case of progressive external ophthalmoplegia is described, in which the onset of the illness was at 28--30 years, with fatigability and muscular pains in the lower limbs as presenting symptoms. Paper-2759360. Two human ovarian cancer cell lines were established from a patient before ( PEO1) and after (PEO4) the onset of resistance to 5-fluorouracil (5-FU)/cisplatin-based chemotherapy. Paper-6821003. Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by large-scale mitochondrial DNA (mtDNA) deletions. Paper-8362475. A 56-year-old black man had annular visual field defects and retinal electrophysiologic dysfunction with chronic progressive external ophthalmoplegia and no pigmentary abnormalities in the fundus. Paper-2691837. Twinkle is a new mitochondrial 5'-3' DNA helicase, defects of which we have previously shown to underlie a mitochondrial disease, progressive external ophthalmoplegia with multiple mtDNA deletions. Paper-10608905. CONCLUSIONS: The ophthalmologist, when confronted with a progressive external ophthalmoplegia, should consider a neurological paraneoplastic syndrome associated with a tumor as a possible diagnosis. Paper-9270669. Properties of surfaces grafted with a-c were compared to surfaces grafted with a traditional PEO-silane containing a propyl spacer [(EtO)(3)Si-(CH(2))(3)-poly(ethylene oxide)(8)-OCH(3), PEO control]. Paper-13644035. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive external ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Paper-13176746. 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. Paper-1336607. Endocrine functions were examined in 21 patients with mitochondrial myopathies presenting with chronic progressive external ophthalmoplegia and other additional neurological and multisystemic symptoms. Paper-7401778. Hydrogels prepared by electron irradiation of poly(ethylene oxide) in water solution: unexpected dependence of cross-link density and protein diffusion coefficients on initial PEO molecular weight. Paper-995576. The monomeric friction factors of the PEO tracer in the PMMA matrix were found to be from two to six orders of magnitude greater than anticipated based on direct measurements of segmental dynamics. Paper-11489070. Additionally, we utilized cultured human cells and observed that reduced expression of Twinkle by RNA interference mediated a rapid drop in mtDNA copy number, further supporting the in vivo results. Paper-10608905. 0. The low shear viscosity increased with increasing temperature at molar ratio of 1.0, and this was attributed to the competitive complexation of the alpha-CD/hydrophobe and the alpha-CD/ PEO chain. Paper-12402314. A PEO phenotype forces one to look comprehensively for other multisystemic mitochondrial features (e.g., exercise induced weakness, encephalopathy, polyneuropathy, diabetes, heart disease). Paper-12031727. Oral osmotic delivery systems containing polyethylene oxide ( PEO, a water-swellable polymer) were designed and the release of cyclobenzaprine hydrochloride (model drug) from the devices was investigated. Paper-9251253. Progressive external ophthalmoplegia may be associated with either progressive or non-progressive pigmentary retinopathies, and adequate evaluation of retinal function in these cases must be obtained. Paper-2456984. As there have been few reports of the obstetrical care of affected patients, we wish to document two pregnancies in a woman with a Chronic Progressive External Ophthalmoplegia (Kearns-Sayre-like syndrome). Paper-1122868. We studied skeletal muscles from eight chronic progressive external ophthalmoplegia patients with ragged-red fibers (group A), five CPEO patients without ragged-red fibers (group B), and five controls. Paper-4409303. Over the past 13 years at VGH-Taipei, five cases were morphologically defined as having mitochondrial disease and clinically presented with syndromes other than chronic progressive external ophthalmoplegia. Paper-8091847. The versatility of this method is demonstrated by its applicability to different metals with covalently attached amphiphilic arms with various chemical compositions (PS-PEO and PB- PEO) and molecular weights. Paper-12325546. These results are in line with the presence of elevated numbers of partially respiratory chain inhibited mitochondria in the skeletal muscle of chronic progressive external ophthalmoplegia patients. Paper-1194323. These findings allow a better definition of the specific genetic mutations and gene products as well as pathophysiology of Leber's hereditary optic neuropathy and chronic progressive external ophthalmoplegia. Paper-9861209. On the other hand in 20% of all cases with mitochondrial proliferations including 19 cases of diffuse mitochondrial myopathy and 3 of progressive external ophthalmoplegia no activation of the enzyme was found. Paper-5411624. Although the pathological features of this congenital myopathy are quite nonspecific, the case further illustrates the pathogenetic heterogeneity of the progressive external ophthalmoplegia phenotype. Paper-6205928. Innervational deficiencies include lateral rectus weakness or paralysis, myasthenia gravis, progressive external ophthalmoplegia nd Duane's syndrome with aberrant innervation to the lateral rectus muscle. Paper-2665818. Amongst other features, progressive external ophthalmoplegia, Leigh's syndrome and stroke-like episodes were observed, well recognized in mitochondrial myopathies but novel manifestations of this genotype. Paper-7794854. Two of the polymers were graft copolymers, having backbones consisting of poly(methyl methacrylate-co-ethylhexyl acrylate) and poly(styrene-co-acrylamide), respectively, and poly(ethylene oxide) PEO 2000 grafts. Paper-2078722. A study was made of the retinal functions in 4 patients with chronic progressive external ophthalmoplegia, general myopathy, EEG anomalies and pigment changes of the fundus oculi (ophthalmoplegia-plus). Paper-3130233. A series of PLA/ PEO/PLA triblock copolymers was prepared by ring opening polymerization of rac-lactide in the presence of various di-hydroxyl poly ( ethylene glycol)s, using CaH2 as a biocompatible initiator. Paper-8691391. OBJECTIVE: To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Paper-13176746. PhotoDSC has been applied to follow the global kinetics of chain scissions resulting from the UV light irradiation or from the thermal degradation of a high molecular weight PEO (4 x 10(6) g x mol(-1)). Paper-12155700. Thus, evoked potentials represent an useful tool for the detection of subclinical central nervous system involvement in patients affected by progressive external ophthalmoplegia with mitochondrial myopathy. Paper-7010321. Among the acquired cause, ptosis due to trauma was the commonest 32%, followed by third cranial nerve palsy 25.5%, myasthenia gravis 17%, aponeurotic 10.7%, chronic progressive external ophthalmoplegia 8.5% etc. Paper-12366199. Microgel particles based on poly (N-isopropylacrylamide) have been shown to display an initial swelling behavior, followed by a collapse, with increasing concentration of added poly(ethylene oxide), PEO, chains. Paper-12132506. We describe a second patient carrying the 5698G-->A transition in the mitochondrial DNA gene encoding tRNA(Asn), who has an apparently isolated mitochondrial myopathy with chronic progressive external ophthalmoplegia. Paper-10849726. Autosomal dominant and recessive forms of progressive external ophthalmoplegia (adPEO and arPEO) are mitochondrial disorders characterized by the presence of multiple deletions of mitochondrial DNA in affected tissues. Paper-10414624. We studied a large family with a dominantly inherited mitochondrial myopathy characterized by progressive external ophthalmoplegia, dysphagia, cataract, lactic acidosis, exercise intolerance, and early death. Paper-7045153. Over the past year, new mutations in Leber's hereditary optic neuropathy have been reported, and at least three genes associated with autosomal dominant chronic progressive external ophthalmoplegia have been described. Paper-9861209. Muscle biopsies from four patients with chronic progressive external ophthalmoplegia and pigmentary retinopathy with symptoms and signs from other organs were studied by means of light and electron microscopy. Paper-2658516. The ability of peptide:PEOtethers to inhibit protein adsorption appeared to be a function of type and surface coverage of the PEO tether and not influenced by the amount or molecular structure the tethered peptide. Paper-10426459. The family was evaluated in relation to other familial mitochondrial myopathies; a central defect in brain stem neural transmission was suggested as a mechanism for the progressive external ophthalmoplegia. Paper-3350478. We determined the nucleotide sequences of junctional regions associated with large deletions of mitochondrial DNA found in four unrelated individuals with a phenotype of chronic progressive external ophthalmoplegia. Paper-6342026. However, the question has been raised as to whether human Twinkle possesses primase activity, due to amino acid sequence divergence and absence of a zinc-finger motif thought to play an integral role in DNA binding. Paper-12002375. TR abnormalities in PEO patients may be due either to a dysfunction of the contractile machinery depending upon impaired muscle energy supply or to altered muscle fiber characterized by the predominance of type I slow fiber. Paper-384407. Further, progressive external ophthalmoplegia with muscle weakness and neuropathy can mask symptoms of parkinsonism, and clinicians should pay special attention to detect and treat parkinsonism in those individuals. Paper-11577127. We describe a new mutation in the tRNA(Ala) gene, a T-->C transition at nucleotide position 5628, in a 62-year-old woman with late onset chronic progressive external ophthalmoplegia, dysphagia and mild proximal myopathy. Paper-8989010. The viscosity/temperature relationship of the alpha-CD/HEUR system (for HEUR with 70% of the PEO chains capped at both ends) did not obey the Arrhenius relationship for alpha-CD/hydrophobe molar ratio in the range 0.8-5. Paper-12402314. For acidic conditions ( pH 3), the PEO-silane monolayers exhibit good polyelectrolyte repellency provided the polyelectrolytes bear no moieties that are able to form hydrogen bonds with the ether groups of the PEO chains. Paper-13420491. It reports on four patients with progressive myoclonus epilepsy--three with Unverricht-Lündborg disease (EPM1) and one with progressive external ophthalmoplegia (PEO)--all of whom were taking more than one antiepileptic drug. Paper-8913787. Polymethyl methacrylate-polyethylene glycol-polymethyl methacrylate triblock copolymers (PMMA-PEO-PMMA) were synthesized by reductive amination coupling of preformed aldehyde-terminated PEO and amine-terminated PMMA. Paper-7611382. The study showed that contrast sensitivity function detects visual function abnormalities noninvasively in a number of patients with mitochondrial progressive external ophthalmoplegia with unaffected Snellen visual acuity. Paper-379732. The interaction of the composite microparticle with the target colloids was governed by electrostatic forces, whereas hydrogen bonding and hydrophobic interactions drove the PEO adsorption onto the composite particles. Paper-10959616. Various patterns of approximately 1nm thick cell adhesive poly-l-lysine ( PLL) have been created on a cell-repellent PEO-like matrix by microcontact printing using different array configurations and printing conditions. Paper-13047677. The core was synthesized from biocompatible moieties, butanetetracarboxylic acid and aspartic acid, and the dendrons from PEO (poly(ethylene oxide)), dihydroxybenzoic acid or gallic acid, and PEG monomethacrylate. Paper-11799730. Leg and back pain as measured by the decrease in VAS scores 3 years postsurgery were reduced with CMC/ PEO compared with controls(leg -6.8 +/- 1.7 vs. -5.6 +/- 1.6, back -0.4 +/- 1.5 vs. -0.1 +/- 2.0), P < 0.05 for leg pain. Paper-13081430. Eleven patients suffering from chronic progressive external ophthalmoplegia ( CPEO) were investigated by means of electroretinograms (ERG) and visually evoked cortical potentials (VECP) to flash and checkerboard-reversal stimuli. Paper-4951259. Single stranded conformational polymorphism ( SSCP) and restriction fragment length polymorphism (PCR-RFLP) methods were carried out to investigate point mutation (G1423C) in the Twinkle gene in all DNA samples. Paper-12051817. The effects of a poly(acrylic acid) (PAA)-poly(ethylene) ( PEO) comb polymer dispersant on the rheological properties and inter-particle forces in aqueous silica suspensions have been studied under varying pH conditions. Paper-11435480. 4) Comorbidity of affective disorders in certain types of mitochondrial disorders, such as autosomal inherited chronic progressive external ophthalmoplegia and mitochondrial diabetes mellitus with the 3243 mutation. Paper-8751816. Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. Paper-1668155. This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Paper-9662454. The patient presented all the characteristic features of the disease which consist of progressive cerebellar ataxia, pyramidal signs, progressive external ophthalmoplegia with variable degrees of extrapyramidal and peripheral signs. Paper-4091306. The inverse increase of the viscosities at higher temperatures in higher concentration (> approximately 3 g/L) is attributed to the forming of physical "cross-linking points" composed of collapsed PNIPAM core and expanded PEO shell. Paper-12106805. Contrast sensitivity function with stationary and temporally modulated (8 Hz) black and white vertical sinusoidal gratings was investigated in 11 patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia. Paper-379732. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Paper-3698632. This is in direct contrast to the behavior observed for PEO homopolymer adsorption (of much higher molecular weights) where the adsorbed amount and layer thickness are smaller and change little with molecular weight. Paper-11442686. Field emission scanning electron microscopy (FESEM) and scanning probe microscopy (SPM) images showed that the uniformity and long-range order of the titania/ PEO domains improved with increasing sol-gel precursor amount. Paper-11330228. Protein adsorption studies, fibroblast adhesion assays, and whole blood perfusions over these polymers showed that the surface modified with PEO 18,500 was the most effective in reducing all the tested biological interactions. Paper-6920593. This paper presents X-ray diffraction (XRD), TGA-DTA, and (7)Li and (23)Na NMR data for PEO nanocomposites made with natural (SWy-1) and synthetic (MNTS) montmorillonite clays that provide new insight into interlayer structure. Paper-12101356. Incorporation of HPbetaCD in PEO tablets resulted in an increase of release rate for both forms of Dic whereas cumulative drug flux through silicon membranes and porcine buccal mucosa was increased for DicH and decreased for DicNa. Paper-13692553. The absence of the mutation in leukocytes in this case with pure muscle involvement confirms the importance of performing mtDNA studies in PEO patients preferentially on muscle rather than blood, which could give false negative results. Paper-520981. This study is concerned with the clinical, electrophysiological, and pathological observations in a 37-year-old man with progressive external ophthalmoplegia and a ragged-red fiber myopathy associated with severe sensorimotor neuropathy. Paper-3526835. The behavior of polyethylene oxide ( PEO, molecular weight, M(w) = 9 x 10(5), as an impurity) was studied in the critical binary mixture of nitroethane ( NE) + 3-methylpentane (MP) by refractive index measurements. Paper-11518652. The model system of poly(ethylene-oxide) or PEO, where the changing hydrogen-bond connectivity of the water has large effect on the conformation of the polymer chain, in mixtures of water and acetonitrile, is experimentally studied. Paper-10865832. This study evaluates the actions of CGP52411 ( cell growth inhibitor) and transforming growth factor beta1 (TGFbeta1) (inducer of apoptosis) alone and in combination on two ovarian carcinoma cell lines ( PEO1 and OVCAR3). Paper-2007347. Different proportions of intact mitochondrial DNA and species deleted from nucleotide 8708 to 13,722 were found in skeletal muscle, blood, and urinary epithelial cells from a patient with chronic progressive external ophthalmoplegia. Paper-6276174. Vesicle formation possibly could be explained in harmonization of the hydrophobic force of acidic surfactant tails, the hydrogen bonding (H-bonding) and the electrostatic interaction among polar headgroups of PEO ether phosphate ester. Paper-12221100. Single-base resolution of double-stranded DNA between 123 and 124 base pairs can be achieved by the use of homogeneous matrices prepared from PEO (2.5% M(r) 8,000,000), and even better resolution is achieved by using mixed polymer matrices. Paper-399630. Twinkle is a mitochondrial replicative helicase, the mutations of which have been associated with autosomal dominant progressive external ophthalmoplegia (adPEO), and recessively inherited infantile onset spinocerebellar ataxia ( IOSCA). Paper-12531131. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy, hyporeflexia, and bilateral Babinski signs. Paper-3283151. To this purpose, Diclofenac (Dic) was incorporated in poly(ethyleneoxide) ( PEO) matrices as poorly soluble free acid (DicH) or freely water-soluble sodium salt (DicNa) in the presence or absence of hydroxypropyl-beta-cyclodextrin (HPbetaCD). Paper-13692553. The patient became affected at the age of 50 years and presented cerebellar ataxia, progressive external ophthalmoplegia and muscular atrophy, although extrapyramidal signs were never detected throughout the whole course of his disease. Paper-6445405. In addition, recessive POLG1 mutations are responsible for sensory-atactic neuropathy, dysarthria and ophthalmoplegia ( SANDO), juvenile spino-cerebellar ataxia-epilepsy syndrome (SCAE) and Alpers-Huttenlocher hepatopathic poliodystrophy. Paper-11275556. Seventeen patients with biopsy-confirmed mitochondrial progressive external ophthalmoplegia underwent electroretinography and visual evoked potential testing to checkerboard-reversal stimuli to investigate subclinical visual dysfunction. Paper-379731. 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. Paper-413524. The increase of interconnectivity induced by compounding PLLA with PEO could also be obtained in porous PLLA/starch blends and PLLA/ hydroxyapatite composites demonstrating the versatility and wide applicability of this preparation protocol. Paper-13127495. 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. Paper-459367. Underlying causes included 75 congenital, 13 posttraumatic, 11 congenital "jaw-winking," 10 cranial nerve III palsies, 9 myasthenia gravis, 5 chronic progressive external ophthalmoplegia, and 4 congenital "double-elevator" palsies. Paper-11540307. A case of the rare juvenile form of Kearns-Shy syndrome with progressive external ophthalmoplegia and lid ptosis, carditis, skeletal muscle weakness, seizures, mental subnormality, short stature, EEG abnormality and deafness is presented. Paper-4651652. Finally, in vitro assays showed functional defects in the various Twinkle mutants and broadly agreed with the cell culture phenotypes such as the level of mtDNA depletion and the level of accumulation of replication intermediates. Paper-13553203. Right septal endomyocardial biopsy specimens from nine patients (four men and five women with a mean [+/- SD] [corrected] age of 36.3 +/- 14.4 years) with chronic progressive external ophthalmoplegia and mitochondrial skeletal myopathy were studied. Paper-5987442. Previously, we have shown that different mutations in this same gene cause autosomal dominant progressive external ophthalmoplegia (adPEO) with multiple mtDNA deletions (MIM 606075), a neuromuscular disorder sharing a spectrum of symptoms with IOSCA. Paper-11510337. Clinically, SCA8 patients show similar features to those with the other SCAs, including limb and truncal ataxia, ataxic dysarthria and horizontal nystagmus, all of which are signs of dysfunction of the cerebellar system. Paper-12998609. To understand better the origin of protein rejection observed with surface-bound poly(ethylene oxide) (or PEO), we have measured fibrinogen adsorption for a series of linear and branched, low-molecular-weight PEOs bound to solid polystyrene surfaces. Paper-7992337. The steady-state (particularly in the I(1)/I(3) ratio) and time-resolved fluorescence results indicate a contact between the pyrene groups and PEO, which then would imply that there may be an interaction, but much weaker than at low pH. Paper-13743584. The specific saccadic velocity pattern in myasthenia gravis, progressive external ophthalmoplegia, internuclear ophthalmoplegia, and Möbius' syndrome is helpful in differentiating these disorders from other neuroophthalmic motility problems. Paper-4490417. We sequenced all mitochondrial tRNA genes in a 61-year-old man with chronic progressive external ophthalmoplegia and mitochondrial myopathy but without mtDNA rearrangements, and identified a heteroplasmic m.3244G>A mutation in the tRNA(Leu(UUR)) gene. Paper-13715500. The third group includes two conditions, an autosomal dominant form of progressive external ophthalmoplegia associated with multiple mtDNA deletions, and a quantitative defect of mtDNA (mtDNA depletion) causing severe infantile myopathy or hepatopathy. Paper-102577. Probands include Leigh syndrome (LS(3243)), mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS(3243)), progressive external ophthalmoplegia (PEO(3243)), and mitochondrial diabetes mellitus (MDM(3243)). Paper-2205278. CONCLUSIONS: A causal relationship between a heteroplasmic G3249A transfer RNA(Leu) mutation in a patient suffering from progressive external ophthalmoplegia, retinal dystrophy, ataxia, neurosensorial hearing loss, and muscle wasting is postulated. Paper-9016366. The extraordinary morphological transformation can be monitored by a fluorescence variation from exciplex to excimer emissions, suggesting the rod-packing transition from antiparallel to interdigitated arrangements as a function of PEO coil length. Paper-13034818. Receptor-binding of "high-uptake" forms of lysosomal enzymes to human diploid skin fibroblasts had been predicted from the Michaelis--Menten kinetics of uptake of these enzymes [e.g., Sando, G.N. & Neufeld, E.F. (1977) Cell 12, 619--627]. Paper-3334810. After subtraction of the influence of the muscle force, specific fatigue was notably higher in patients with chronic progressive external ophthalmoplegia than in patients with ONMD and in controls, and it correlated well with elevations of serum lactate. Paper-9847834. Qualitative abnormalities of mtDNA are typically represented by pleioplasmic multiple mtDNA deletions, that are detected in stable tissues, including skeletal muscle, of patients affected by Autosomal Dominant Chronic Progressive External Ophthalmoplegia. Paper-278757. Furthermore, the occurrence of a curious orthoptic abnormality is described, indicating one of the possible ways to avoid diplopia in chronic progressive external ophthalmoplegia: the coexistence of normal and gliding abnormal retinal correspondence. Paper-4143249. A naturally occurring in vivo model for a defect in this cross-talk of two physically separate genomes is a human disease, an autosomal dominant progressive external ophthalmoplegia, in which multiple deletions of mtDNA accumulate in the patients' tissues. Paper-208468. The purpose of this report is to alert the ophthalmologist and neurologist to the fact that intermittent ocular symptoms may herald the onset of chronic progressive external ophthalmoplegia and therefore resemble the weakness produced by myasthenia gravis. Paper-3140481. Progressive external ophthalmoplegia has been described in 24% of patients with minicore myopathy, but there have been only 7 reports of ophthalmoplegia with spinal muscular atrophy since 1954, and some of these diagnoses have been questioned. Paper-772603. The decision for surgery in patients with chronic progressive external ophthalmoplegia or myotonic dystrophy should be made cautiously, and the "optical tarsectomy" should be considerable before conservative levator resection or fascia lata suspension. Paper-2388170. A single mtDNA point mutation at nt 3243 has been associated with two different clinical phenotypes: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ('MELAS3243') and progressive external ophthalmoplegia ('PEO3243'). Paper-124514. In PEO-PLGA nanoparticles, the ester bond connecting the PEO and the PLGA segments was preferentially cleaved, which led to a relatively fast decrease in molecular weight and to (partial) aggregation, as multimodal size distributions were observed. Paper-10882785. Isothermal crystallization of PEO was performed at 55 degrees C. After ageing at different temperatures ranging from 0 to 90 degrees C and for various periods of time, the kinetics of this crystallization was found following the Avrami theory. Paper-13208244. Infantile onset spinocerebellar ataxia ( IOSCA) (MIM 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and spinal cord and sensory axonal neuropathy. Paper-11510337. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Paper-1660220. 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. Paper-13721572. The tracer diffusion coefficient of unentangled poly(ethylene oxide) ( PEO, M=1000 gmol) in a matrix of poly(methyl methacrylate) ( PMMA, M=10 000 gmol) has been measured over a temperature range from 125 to 220 degrees C with forced Rayleigh scattering. Paper-11489070. The aim of the present study was to investigate if there was a relation between observed work load recorded with PEO, and subjectively estimated work load and musculoskeletal complaints recorded with a questionnaire based on Visual Analogue Scales. Paper-11151522. We describe experiments with poly(1,2-butadiene-b-ethylene oxide) (PB- PEO) diblock copolymers, which form Y-junctions and three-dimensional networks in water at weight fractions of PEOintermediate to those associated with vesicle and wormlike micelle morphologies. Paper-9878375. As measured by a dextran-coated charcoal adsorption assay, cell lines PEO1, PEO4 and PEO6 possessed moderate concentrations of ER (96-132 fmol mg-1 protein), PEA1 and PEA2 had low values (12-23 fmol mg-1 protein) and PEO14, TO14, PEO23 and PEO16 were ER-negative. Paper-6713495. We have sequenced all mitochondrial tRNA genes from 9 Japanese patients with chronic progressive external ophthalmoplegia ( CPEO) who had no detectable large mtDNA deletions nor mutations previously reported, and identified 6 different base substitutions in 6 patients. Paper-8228214. DESIGN: Metabolic muscle fatigue was assessed in a series of 21 patients with an MEM, including 13 patients with chronic progressive external ophthalmoplegia and 8 patients with various mitochondrial point mutations; 27 patients with ONMD; and 25 healthy controls. Paper-9847834. Multilayers were composed of poly(methacrylic acid), PMAA, and poly(ethylene oxide), PEO (hydrogen-bonded multilayers), or of PMAA and 22% quarternized copolymer of N-ethyl-4-vinylpyridium bromide and 4-vinylpyridine, Q22 (electrostatically stabilized multilayers). Paper-11421947. In patients with PEO the mean values of lipid peroxides and of the fluorescent adducts of aldehydes with plasma proteins were significantly higher with respect to normal controls, while the mean values of plasma and erythrocyte GSH concentration were significantly lower. Paper-7173575. We have used the human ovarian cancer cell line PEO1 alongside two in-house derived drug resistant variants: PEO1CarboR (8-fold acquired resistance to carboplatin and cisplatin) and the Pgp expressing PEO1TaxR (15-fold acquired resistance to paclitaxel). Paper-12233931. In 1989, autosomal dominant progressive external ophthalmoplegia with multiple deletions of mitochondrial DNA was the first of these disorders to be identified.Two years later, mtDNA depletion syndrome was initially reported in infants with severe hepatopathy or myopathy. Paper-8441580. An increase in the PEO amount adsorbed on fumed silica leads to a diminution of the specific surface area and contributions of micro- (pore radius R < 1 nm) and mesopores (1 < R < 25 nm) to the pore volume but contribution of macropores (R > 25 nm) increases with CPEO. Paper-10896350. 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. Paper-4246037. The aim of this work was to develop a tablet for the buccal delivery of the poorly soluble drug carvedilol (CAR), based on poly(ethyleneoxide) ( PEO) as bioadhesive sustained-release platform and hydroxypropyl-beta-cyclodextrin (HPbetaCD) as modulator of drug release. Paper-12151741. In contrast, overexpression of three N-terminal mutants W282L, R301Q and P302L that are analogous to human autosomal dominant progressive external ophthalmoplegia mutations results in mitochondrial DNA depletion, and in the case of R301Q, a dominant negative cellular phenotype. Paper-13525363. Poly(1,2-butadiene-block-ethylene oxide) (PB- PEO) block copolymer micelles are found to partition reversibly between an ionic liquid 1-butyl-3-methylimidazolium hexafluorophosphate ([BMIM][PF(6)]) and water, thereby functioning as micellar shuttles controlled simply by temperature. Paper-11988372. Three polyethylene oxide-polyurethane-polyethylene oxide (PEO-PU-PEO) block copolymers of variable PEO block size (MW 550, 2000, and 5000) were used to modify the surface of a conventional segmented polyurethane (PU) with the objective of inhibiting interactions with proteins. Paper-13075251. We have investigated a 15 year old girl with progressive external ophthalmoplegia, including bilateral ptosis and retinal rod and cone cell dysfunction with atypical retinal pigmentation, complicated by cerebellar ataxia, partial cardiac conduction block, and diabetes mellitus. Paper-8082803. When rapidly erodible polymers (HPMC E3, HPC, PEG8000, PEOs (Mw=100000 and 200000)) were used, the release profiles of diltiazem HCl from the tablets becomes parabolic whereas zero-order release was achieved by using slowly erodible polymers (HPMC E5, HPMC E15, PEO (Mw=300000)). Paper-1729531. 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. Paper-1194323. To test the efficacy and safety of creatine (Cr) monohydrate in mitochondrial diseases, 16 patients with chronic progressive external ophthalmoplegia or mitochondrial myopathy were randomized in a crossover design to receive double-blind placebo or 20 g Cr/day for 4 weeks. Paper-8579480. 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. Paper-7367669. Graft polymerization of methoxy-poly(ethylene glycol) methacrylate, an ester of methacrylic acid and monomethoxy-poly(ethylene glycol) ( PEO), was performed onto a polyetherurethane (PU) film and tube under different polymerization conditions by a plasma treatment technique. Paper-7804835. These features may explain the selective involvement of the EOM in progressive external ophthalmoplegia and oculopharyngeal muscular dystrophy due to an accumulation of damaged DNA in mitochondria and nuclei within the EOM as a result of repeated cycling of the muscle satellite cells. Paper-9321785. The 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue-specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and 'extremely thin appearance'. We report a second patient with the same mutation and phenotype. Paper-10010521. The characteristics of saccades and quick phases of optokinetic nystagmus at the start of recording were poor at distinguishing between myasthenic and non-myasthenic palsies, except when the comparison was solely between myasthenia and chronic progressive external ophthalmoplegia. Paper-1512307. The elasticity and ease of adjustment of the silicone rod are ideal characteristics for a suspensory material used to correct severe ptosis associated with a minimal or absent Bell phenomenon, such as in chronic progressive external ophthalmoplegia, myasthenia gravis, or third-nerve palsy. Paper-531272. The review suggests that the following should be regarded as associations of mitochondrial myopathy and progressive external ophthalmoplegia (a) diabetes mellitus (b) cataracts, in which calcium deposits may, like basal ganglia calcification, be due to abnormal calcium metabolism. Paper-3857653. We show here that recessive mutations of the close functional partner of the polymerase, the Twinkle helicase, can also manifest as early encephalopathy with liver involvement, a phenotype reminiscent of Alpers syndrome, and are a new genetic cause underlying tissue-specific mtDNA depletion. Paper-12531131. These include disorders of the optic nerve, such as Leber's hereditary optic neuropathy and Kjer-type optic atrophy, and disorders of ocular motility, such as congenital nystagmus, autosomal dominant progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy. Paper-1320842. The behavior of a flexible linear or branched chain polymer (polyethylene oxide, PEO, MW = 9 x 10(5), as an impurity) in the critical binary mixture of isobutyric acid (I) + water (W) was studied by the refractive index (n) measurements using a very accurate and sensitive refractometer. Paper-12203712. The reactions are performed in nanocontainers, constructed by self-assembly of linear-dendritic amphiphilic copolymers with poly(ethylene glycol), PEG or poly(ethylene oxide), PEO as the hydrophilic blocks and poly(benzyl ether) monodendrons as the hydrophobic fragments: G3PEO13k, dG3 and dG2. Paper-13035504. Screening of the gene encoding Twinkle in individuals with autosomal dominant progressive external ophthalmoplegia (adPEO), associated with multiple mtDNA deletions, identified 11 different coding-region mutations co-segregating with the disorder in 12 adPEO pedigrees of various ethnic origins. Paper-8848226. The dynamic viscosities of blends of two different high molecular weight PEO tracers (M=440 000 and 900 000 gmol) in the same PMMA matrix were also measured at temperatures ranging from 160 to 220 degrees C; failure of time-temperature superposition was observed for these systems. Paper-11489070. However, allele sizes within the SCA8 proposed pathogenic range have been reported in patients with ataxia of unknown etiology, in individuals from pedigrees with other SCA or Friedreich's ataxia, and in patients with Alzheimer's disease, schizophrenia or parkinsonism. Paper-12998609. Utilization of a triblock copolymer monolayer film, polystyrene-block-poly(2-vinylpyridine)-block-poly(ethylene oxide) (PS-b-P2VP-b-PEO), with two blocks capable of selective transport of different metal complexes to the surface ( PEO and P2VP), allows for chemical discrimination and nanoscale patterning. Paper-11820632. The diagnosis of a mitochondrial cytopathy was based on the typical clinical symptoms and signs, including chronic progressive external ophthalmoplegia, hearing impairment, cerebellar ataxia, proximal myopathy, and polyneuropathy, and on molecular genetic and histological examinations. Paper-1040196. Patients with multiple deletions typically present with progressive external ophthalmoplegia, ptosis and, exercise intolerance after the first decade of life. mtDNA depletion is usually an infantile disease characterized by severe muscle weakness, hepatic failure, or renal tubulopathy with fatal outcome. Paper-9597450. We present here the clinical and molecular features of a patient with a clinical presentation characterized initially by PEO with mtDNA multiple deletions lately evolving into a severe neurological syndrome, which included sensory and cerebellar ataxia, peripheral neuropathy, parkinsonism, and depression. Paper-12849999. In order to investigate the effect of aging- and disease-associated deletion of mtDNA on cellular functions, we used cytoplasm fusion to construct a series of the cybrids harboring varying proportions of mtDNA with 4,977 bp deletion from skin fibroblasts of a patient with chronic progressive external ophthalmoplegia. Paper-8914051. In the majority of patients with chronic progressive external ophthalmoplegia, but without a family history of the disease, restriction analysis reveals large mutations of the mitochondrial genome, while other methods are necessary for the localization of defects in all cases with maternal transmission of the disease. Paper-6834475. Cesium sulfate gradient centrifugation was used to more accurately separate and analyze for DNA-incorporated 5-FU metabolites and confirmed that the absolute level of 5-FU in the DNA of the PEO4 cells was markedly decreased (6.5-fold) compared with that of the sensitive PEO1 cell line. Paper-6821003. Heteroplasmic populations of mtDNA, consisting of normal mtDNA and mtDNA with large deletions, are found in the skeletal muscle and other tissues of certain patients with mitochondrial respiratory chain deficiencies, particularly in those with the CPEO (chronic progressive external ophthalmoplegia) phenotype. Paper-1022002. The changing structural properties that develop with ionic strength are due to increased heterogeneity of nanoparticle distribution and polymer-nanoparticle interactions as well as to the formation of PEO [poly(ethylene oxide)] aggregates interacting with sodium cations, which reinforce the overall hydrogel network. Paper-13757750. Our findings suggest that the 3243 mutation can be associated with mixed clinical features of myoclonic epilepsy with ragged-red fibers (MERRF) and PEO and that a preferential increase in the levels of the mutant mtDNA is not related to graying of hair, and hence to the hypothesized production of premature aging of cells. Paper-539727. The self-assembly of triblock copolymers of poly(ethylene oxide-b-methyl methacrylate-b-styrene) (PEO-b-PMMA-b-PS), where PS is the major component and PMMA and PEO are minor components, provides a robust route to highly ordered, nanoporous arrays with cylindrical pores of 10-15 nm that show promise in block copolymer lithography. Paper-12119473. SUMMARY: Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extraocular muscles and results in droopy eyelids (ptosis) and progressive external ophthalmoplegia. Paper-12280548. The maximal respiratory activities of well-characterized preparations of permeabilized mononuclear cells of five patients with chronic progressive external ophthalmoplegia were compared to healthy controls and a 30 to 50% decrease of the ADP-stimulated respiration rates with glutamate + malate and succinate + rotenone was detected. Paper-494990. At 0.3% serum concentrations the total amount of protein adsorbed was found to be related to the polyoxyethylene ( PEO) chain length of the block copolymer, whilst at 0.3% or 50% plasma concentrations a relationship was shown between the polyoxypropylene ( PPO) chain and the plasma protein adsorption for the range of block copolymers studied. Paper-7765921. Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial disorders involving progressive external ophthalmoplegia, acute inflammatory demyelinating polyradiculoneuropathy ( AIDP), motor neuron disease, and brainstem ischemia. Paper-13444752. The expression of coxsackievirus-adenovirus receptor (CAR) and the integrins alpha(v)beta3 and alpha(v)beta5 was analyzed quantitatively ( flow cytometry) and qualitatively ( immunocytochemistry) in five human ovarian cancer cell lines ( PEO1, PEO4, PEO14, SKOV-3, and OVCAR-3) and three control cell lines (293, HeLa, and CHO-K1). Paper-8801878. The reduction in the apparent PT concentration at the electrode interface due to the high mobility of the PEO chain, leading to low efficiency in the formation of an enzyme-mediator complex, is a possible reason for the lower mediation ability of PT-PEO1000 than that of PT-PA for the ET between the FAD group and PT(+) immobilized on the electrode. Paper-11485102. The patient's manifestations included progressive external ophthalmoplegia, bilateral ptosis, muscle weakness, delayed development, and progressive hearing loss with multiple mitochondrial DNA deletions, including an abundant 11-kb novel deletion and reduced specific activities of respiratory complexes I, III, and IV present in skeletal muscle. Paper-9275723. This study describes the dehydration of an ethanol/water azeotrope during evapomeation using polyion complex cross-linked chitosan composite (q-Chito-PEO acid polyion complex/PES composite) membranes, constructed from quaternized chitosan (q-Chito) and poly(ethylene oxydiglycolic acid) ( PEO acid) on a porous poly(ether sulfone) (PES) support. Paper-9790117. These synonyms are used for gene C10orf2 (chromosome 10 open reading frame 2): TWINL, Twinkle protein, mitochondrial, TWINKLE, T7-like mitochondrial DNA helicase, T7 gp4-like protein with intramitochondrial nucleoid localization, SCA8, SANDO, Progressive external ophthalmoplegia 1 protein, PEOA3, PEO1, PEO, IOSCA, FLJ21832, ATXN8. These accession numbers are used for gene C10orf2: Q9H6V3 (UNIPROT__AC), EAW49794 (NCBI_GENBANK__AC), B4DLM7 (UNIPROT__AC), ACB21043 (NCBI_GENBANK__AC). C10orf2 is a homologue of PEO1 (progressive external ophthalmoplegia 1) from Pan troglodytes. C10orf2 is a homologue of PEO1 (progressive external ophthalmoplegia 1) from Gallus gallus. C10orf2 is a homologue of PEO1 (progressive external ophthalmoplegia 1) from Canis lupus familiaris. C10orf2 is a homologue of Peo1 (progressive external ophthalmoplegia 1 (human)) from Mus musculus. C10orf2 is a homologue of Peo1 (progressive external ophthalmoplegia 1 (human)) from Rattus norvegicus. C10orf2 is a homologue of F46G11.1 (hypothetical protein) from Caenorhabditis elegans. C10orf2 is a homologue of CG5924 (CG5924 gene product from transcript CG5924-RA) from Drosophila melanogaster. C10orf2 is a homologue of C26H10ORF2 (chromosome 10 open reading frame 2 ortholog) from Bos taurus. C10orf2 is a homologue of AgaP_AGAP010720 (AGAP010720-PA) from Anopheles gambiae str. PEST. Important links ! iHOP - Information Hyperlinked over Proteins . Concept & Implementation by Robert Hoffmann.