716 results on '"Turnbull, D M"'
Search Results
202. Inherited defects of mitochondrial fatty acid oxidation
- Author
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TURNBULL, D. M., SHEPHERD, I. M., and AYNSLEY-GREEN, A.
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- 1988
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203. Very longchain acyl coenzyme A dehydrogenase deficiency presenting with exerciseinduced myoglobinuria
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Ogilvie, I., Pourfarzam, M., Jackson, S., Stockdale, C., Bartlett, K., and Turnbull, D. M.
- Abstract
A young man presented with recurrent episodes of muscle pain and myoglobinuria after prolonged exercise or fasting. Studies on isolated muscle mitochondria showed slow flux through β-oxidation and the presence of only saturated long-chain acyl coenzyme A (acyl-CoA) esters. These results strongly suggested a defect in the dehydrogenation of long-chain acyl-CoA esters that we confirmed by measurement of enzyme activity in muscle and platelet mitochondrial fractions and fibroblast homogenates. In all tissues studied from the patient, the enzyme activity was approximately 10 of control values with acyl-CoA esters from C16-C22as substrates. We investigated the intramito-chondrial location of the deficient acyl-CoA dehydrogenase by subfractionation of platelet mitochondria and, in contrast to the short-chain and medium-chain enzymes, which were localized in the soluble fraction, the majority of the acyl-CoA dehydrogenase activity with long-chain substrates was in the membrane fraction. These studies indicate that in humans, the predominant enzyme catalyzing the dehydrogenation of long-chain acyl-CoA esters is membrane-bound and that deficiency of this enzyme is a cause of muscle pain and rhabdomyolysis.
- Published
- 1994
204. Biochemical Investigation of Muscle Disease
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Turnbull, D M and Bindoff, L A
- Published
- 1989
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205. Tetracyano-2,2-bipyridineiron(iii), an improved electron acceptor for the spectrophotometric assay of β-oxidation and of succinate dehydrogenase in intact mitochondria
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Turnbull, D M, Sherratt, H S A, Davies, D M, and Sykes, A G
- Abstract
A recently described direct reading assay for beta-oxidation and for succinate oxidation in intact mitochondria using [Fe(CN)6]3- as final electron acceptor [Osmundsen & Bremer (1977) Biochem. J. 164. 621-633] has been improved by using instead tetracyano-2,2-bipyridineiron(III) [Fe(CN)4(bpy)]-, which gives a 2.6 times greater absorbance change on reduction. Some physical and kinetic properties of [Fe(CN)4(bpy)]- are described. The use of exogenous cytochrome c(III) as electron acceptor was also tested; this gives the largest absorbance change, although the absolute rate of reaction is only approx. one-third of that using [Fe(CN)6]3- or [Fe(CN)4(bpy)]-.
- Published
- 1982
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206. Timed interruption of insulin therapy in diabetic BB/E rat pregnancy: effect on maternal metabolism and fetal outcome
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Eriksson, U. J., Bone, A. J., Turnbull, D. M., and Baird, J. D.
- Abstract
Abstract. Experimental and clinical studies have suggested that periods of poor metabolic control in early diabetic pregnancy have an adverse effect on the developing embryo, but the precise nature and mechanism of this damaging influence have not been defined. In this study the effect of withdrawing treatment with insulin for 2 days at various times during early gestation on maternal metabolism and fetal outcome has been investigated in the spontaneously diabetic BB/E rat. Nondiabetic BB/E rats and diabetic BB/E rats treated continuously with insulin throughout pregnancy served as controls. Continuously treated diabetic rats had a higher rate of fetal resorption and bigger placentae and their offspring had fewer ossification centres, lower extractable pancreatic insulin content, larger hearts, and smaller kidneys and lungs than the offpring of non-diabetic rats. Interruption of treatment with insulin further aggravated the adverse effect of diabetes on the outcome of pregnancy by resulting in a further increase in the rate of fetal resorption, a rise in the neonatal death rate, a reduction in fetal body weight, and retardation of skeletal development. These effects were more apparent when interruption of treatment with insulin occurred during the period of organogenesis, i.e. during gestational days 8 and 9, and 10 and 11. Two severe malformations were seen, both in litters originating from mothers whose treatment with insulin was interrupted during and immediately before fetal organogenesis. We conclude that a period of disturbed maternal metabolism during fetal organogenesis is capable of affecting the survival, growth, and organ development of the fetus and that the spontaneously diabetic insulin-dependent BB rat appears to be a good model for studies of the effect of diabetes and its treatment on the outcome of pregnancy.
- Published
- 1989
- Full Text
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207. Skeletal muscle mitochondrial β-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection
- Author
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Watmough, N J, Bhuiyan, A K, Bartlett, K, Sherratt, H S, and Turnbull, D M
- Abstract
Well-coupled mitochondrial fractions were prepared from rat skeletal muscle without the use of proteolytic enzymes. The products of [U-14C]hexadecanoate oxidation by rat skeletal muscle mitochondrial fractions were analysed by h.p.l.c. with on-line radiochemical detection. In the presence of 1 mM-carnitine, 70% of the products is acetylcarnitine. In agreement with Veerkamp et al. [Veerkamp, van Moerkerk, Glatz, Zuurveld, Jacobs & Wagenmakers (1986) Biochem. Med. Metab. Biol. 35, 248-259] 14CO2 release is shown to be an unreliable estimate of flux through beta-oxidation in skeletal muscle mitochondrial fractions. The flux through beta-oxidation is recorded unambiguously polarographically in the presence of 1 mM-carnitine and the absence of citrate cycle intermediates.
- Published
- 1988
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208. Deuterium Isotope Effects on the CH Stretching Overtone Spectrum of Toluene-α-d<INF>1</INF>
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Kjaergaard, H. G., Turnbull, D. M., and Henry, B. R.
- Abstract
The room-temperature vapor phase overtone spectrum of toluene-α-d
1 has been recorded in the CH stretching regions corresponding to ΔvCH = 2−7. The vibrational overtone spectra are recorded by conventional near-infrared spectroscopy and by intracavity titanium:sapphire and dye laser photoacoustic spectroscopy. Absolute oscillator strengths are obtained from the conventional spectra, and relative oscillator strengths within a given overtone, from both the conventional and photoacoustic spectra. The aryl region of the spectrum is nearly identical to the aryl region of the spectrum of toluene-d0 and can be understood on the basis of two nonequivalent aryl local modes. The methyl band differs markedly from the methyl band in toluene-d0 in relative intensity, in line width, and in structure. We use an anharmonic oscillator local mode model and an ab initio dipole moment function to calculate oscillator strengths for the aryl and methyl transitions. As was the case for toluene-d0 , these simple calculations show good agreement between observed and calculated intensities both in absolute total intensities and for relative intensities between the two aryl groups and between the aryl and methyl groups. We explain the differences between the methyl bands in the -α-d1 and -d0 spectra on the basis of our intensity calculations and on the basis of coupling between CH and CD stretching vibrations and methyl torsions.- Published
- 1998
209. Methyl versus Aryl CH and CD Stretching Overtone Intensities in the Vapor Phase Spectra of Toluenes
- Author
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Kjaergaard, H. G., Turnbull, D. M., and Henry, B. R.
- Abstract
Room temperature vapor phase overtone spectra of toluene-d
0 and -d8 have been recorded in the CH and CD stretching regions corresponding to ΔvCH = 2−7 and ΔvCD = 2−6. The vibrational overtone spectra are recorded by conventional near-infrared spectroscopy and by intracavity titanium:sapphire and dye laser photoacoustic spectroscopy. Absolute oscillator strengths are obtained from the conventional spectra and relative oscillator strengths within a given overtone from the photoacoustic spectra. Peaks corresponding to two nonequivalent aryl local modes are consistently assigned. The structure of the methyl band is complicated by methyl torsion. We show a simple method of calculating the absolute intensity of this methyl band. Oscillator strengths for both the aryl and the methyl transitions are calculated with an anharmonic oscillator local mode model and ab initio dipole moment functions. Our simple calculations show very good agreement between observed and calculated intensities, both for absolute total intensities and for relative intensities between the two aryl groups and between the aryl and methyl groups. This agreement indicates that most of the intensity in the methyl band arises from the CH or CD stretching transitions.- Published
- 1997
210. Measurement of the acyl-CoA intermediates of β-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria
- Author
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Watmough, N J, Turnbull, D M, Sherratt, H S A, and Bartlett, K
- Abstract
The quantitative isolation of acyl-CoA esters of chain length C2-C17 from mitochondrial incubations and their analysis by reverse-phase radio-h.p.l.c. is described. Photodiode-array detection was used to characterize 2-enoyl-CoA esters. The chromatographic behaviour of all 27 intermediates of the beta-oxidation of hexadecanoyl-CoA is documented. Only C16, C14 and C12 intermediates were detected in uncoupled mitochondria oxidizing [U-14C]hexadecanoyl-CoA in the presence of fluorocitrate and carnitine, providing evidence for some organization of the enzymes of beta-oxidation [Garland, Shepherd & Yates (1965) Biochem. J. 97, 587-594; Sumegi & Srere (1984) J. Biol. Chem. 259, 8748-8752]. Rotenone increased concentrations of 3-hydroxyacyl-CoA and 2-enoyl-CoA esters and inhibited flux. These experiments provide the first direct unambiguous measurements of acyl-CoA esters in intact respiring rat liver mitochondrial fractions.
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- 1989
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211. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
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Chinnery, P F, Taylor, G A, Howell, N, Andrews, R M, Morris, C M, Taylor, R W, McKeith, I G, Perry, R H, Edwardson, J A, and Turnbull, D M
- Published
- 2000
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212. HEPATIC PEROXISOMAL PROLIFERATION CAUSED BY ETHYL 2[5(4-CHLORO-PHENYL)PENTYL]OXIRAN-2- CARBOXYLATE (CPOC): A HYPOGLYCEMIC INHIBITOR OF MITOCHONDRIAL FATTY ACID OXIDATION.
- Author
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Sherratt, H. S. A., Bartlett, K., Koundakjian, P. P., Turnbull, D. M., Osmundsen, H., Hoof, F. Van, and Bone, A. J.
- Published
- 1982
- Full Text
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213. Anorexia nervosa, liquorice and hypokalaemic myopathy.
- Author
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Nightingale, S., Smith, P. E., and Turnbull, D. M.
- Subjects
ANOREXIA nervosa complications ,GLYCYRRHIZA ,HYPOKALEMIA ,MEDICINAL plants ,MUSCLES ,MUSCLE diseases ,NECROSIS ,SUBSTANCE abuse ,DISEASE complications - Abstract
A patient with a past history of anorexia nervosa developed a hypokalaemic myopathy following a 'flu-like illness. Although she was apparently in remission from anorexia nervosa, the diet was found to be markedly abnormal with an excessive ingestion of liquorice and a low potassium salt intake. The clinical features and investigations, including muscle biopsy, are described. The patient is compared, with 2 reported cases of liquorice-induced myopathy, and the relationship between anorexia nervosa, liquorice and hypokalaemic myopathy is discussed. [ABSTRACT FROM PUBLISHER]
- Published
- 1981
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214. Insulin sensitivity and mitochondrial gene mutation.
- Author
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Walker, Mark, Taylor, Robert W., Stewart, Murray W., Bindoff, Laurie A., Jackson, Margaret J., Alberti, George K. M. M., Turnbull, Douglass M., Kanamori, Akira, Tanaka, Keiji, Umezawa, Shin-chi, Matoba, Kiyozaku, Fujita, Yoshikuni, Tajima, Yoshitada, Walker, M, Taylor, R W, Stewart, M W, Bindoff, L A, Jackson, M J, Alberti, G K, and Turnbull, D M
- Published
- 1995
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215. Serum anticonvulsant concentrations and the risk of drug induced skin eruptions.
- Author
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Chadwick, D, Shaw, M D, Foy, P, Rawlins, M D, and Turnbull, D M
- Abstract
In two prospective studies of anticonvulsant therapy there was a high incidence of drug-induced skin reactions to phenytoin (7%) and carbamazepine (16.6%). High initial serum concentrations of these drugs appeared to be a factor influencing the occurrence of such skin reactions. [ABSTRACT FROM AUTHOR]
- Published
- 1984
216. OPA1IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS
- Author
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Stewart, J D., Hudson, G, Yu-Wai-Man, P, Blakeley, E L., He, L, Horvath, R, Maddison, P, Wright, A, Griffiths, P G., Turnbull, D M., Taylor, R W., and Chinnery, P F.
- Published
- 2008
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217. POLG1, C10ORF2, and ANT1mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions
- Author
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Hudson, G, Deschauer, M, Taylor, R W., Hanna, M G., Fialho, D, Schaefer, A M., He, L -P., Blakely, E, Turnbull, D M., and Chinnery, P F.
- Abstract
The authors sequenced POLG1, C10ORF2, and ANT1in 38 sporadic progressive external ophthalmoplegia patients with multiple mitochondrial DNA (mtDNA) deletions. Causative mutations were identified in approximately10% of cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G). None had a mutation in C10ORF2or ANT1. In the majority of patients, the primary nuclear genetic defect is likely to affect other unknown genes important for mtDNA maintenance.
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- 2006
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218. 74th ENMC International Workshop: Mitochondrial Diseases 19-20 November 1999, Naarden, The Netherlands
- Author
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Poulton, J. and Turnbull, D. M.
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- 2000
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219. Investigation of mitochondrial function in hereditary spastic paraparesis
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Christopher McDermott, Taylor, R. W., Hayes, C., Johnson, M., Bushby, K. M. D., Turnbull, D. M., and Shaw, P. J.
220. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
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Mcdermott, C. J., Dayaratne, R. K., Tomkins, J., Lusher, M. E., Lindsey, J. C., Johnson, M. A., Casari, G., Turnbull, D. M., Bushby, K., and Pamela Shaw
221. 35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999
- Author
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Melander, A., Olsson, J., Lindberg, G., Salzman, A., Howard, T., Stang, P., Lydick, E., Emslie-Smith, A., Boyle, D. I. R., Evans, J. M. M., Macdonald, T. M., Bain, J., Sullivan, F., Ad Darts Memo, Morris For The Collaboration, Juhl, C., Porksen, N., Sturis, J., Hollingdal, M., Pincus, S., Veldhuis, J., Dejgaard, A., Schmitz, O., Kristensen, J. S., Frandsen, K. B., Bayer, Th, Muller, P., Dunning, B. E., Paladini, S., Gutierrez, C., Deacon, R., Valentin, M., Grunberger, G., Weston, W. M., Patwardhan, R., Rappaport, E. B., Sargeant, L. A., Wareham, N. J., Khaw, K. T., Zethelius, Bjorn, Lithell, Hans, Hales, C. Nicholas, Berne, Christian, Lakka, H-M, Oksanen, L., Tuomainen, T-P, Kontula, K., Salonen, J. T., Dekker, J. M., Boks, P., Vegt, F., Stehouwer, C. D. A., Nijpels, G., Bouter, L. M., Heine, R. J., Bruno, G., Cavallo-Perin, P., Bargero, G., D Errico, N., Borra, M., Macchia, G., Pagano, G., Newton, R. W., Ruta, D. A., New, J. P., Wallace, C., Roxburgh, M. A., Young, R. J., Vaughan, N. J. A., Elliott, P., Brennan, G., Devers, M., Macalpine, R., Steinke, D., Lawson, D. H., Decallonne, B., Casteels, K., Gysemans, C., Bouillon, R., Mathieu, C., Linn, Thomas, Strate, Christine, Schneider, Kerstin, Funda, D. P., Jirsa, M. Jr, Kozakova, H., Kaas, A., Kofronova, O., Tlaskalova-Hogenova, H., Buschard, K., Wanka, H., Hartmann, A., Kuttler, B., Rasmussen, S. B., Sorensen, T. S., Markholst, H., Petersen, J. S., Karounos, D., Dyrberg, T., Mabley, J. G., Hasko, G., Szabo, C., Seissler, J., Nguyen, T. B. T., Steinbrenner, H., Scherbaum, W. A., Cipriani, R., Gabriele, A., Sensi, M., Guidobaldi, L., Pantellini, F., Cerrito, M. G., Scarpa, S., Di Mario, U., Morano, S., Ceolotto, G., Iori, E., Baritono, E., Del Prato, S., Semplicini, A., Trevisan, R., Zerbini, G., Meregalli, G., Asnaghi, V., Tentori, F., Maestroni, A., Mangili, R., Marescotti, C., Vedovato, M., Tiengo, A., Tadjieva, J., Mankovsky, B. N., Aken, S., Raes, A., Vande Walle, J., Matthys, D., Craen, M., Hansen, H. P., Lund, S. S., Rossing, P., Jensen, T., Parving, H-H, Genediab, Study Group, Andersen, S., Tarnow, L., Hansen, B. V., Trautner, C., Haastert, B., Ennenbach, N., Willich, S., Tabak, A. Gy, Orchard, T. J., Spranger, J., Preissner, K. T., Schatz, H., Pfeiffer, A., Canton, A., Burgos, R., Hernandez, C., Lecube, A., Mesa, J., Segura, R. M., Mateo, C., Simo, R., Fathallah, L., Greene, D. A., Obrosova, I., Gilbert, R. E., Kelly, D. J., Cox, A. J., Berka-Wilkinson, J. L., Taylor, H. R., Panagiotopoulos, S., Lee, V., Jerums, G., Cooper, M. E., Hitman, G. A., Aganna, E., Ogunkolade, W. B., Rema, M., Deepa, R., Shanthi-Rani, C. S., Barakat, K., Kumarajeewa, T. R., Cassell, P. G., Mcdermott, M. F., Mohan, V., Ways, K., Bursell, S., Devries, T., Woodworth, J., Alatorre, C., King, G., Aiello, L. P., Karisen, A. E., Pavlovic, D., Nielsen, K., Jensen, J., Andersen, H. U., Pociot, F., Mandrup-Poulsen, T., Eizirik, D. L., Nerup, J., Lortz, S., Tiedge, M., Lenzen, S., Lally, F. J., Bone, A. J., Darville, M. I., Ho, Y-S, Sternesjo, J., Sandler, S., Chen, M-C, Schuit, F., Pipeleers, D. G., Merezak, S., Hardikar, A., Hoet, J. J., Remacle, C., Reusens, B., Breant, B., Garofano, A., Czernichow, P., Kubota, N., Terauchi, Y., Miki, H., Tamemoto, H., Yamauchi, T., Nakano, R., Komeda, K., Eto, K., Tobe, K., Kimura, S., Kadowaki, T., Ide, T., Murakami, K., Tsunoda, M., Mochizuki, T., Ozanne, S. E., Nave, B. T., Wang, C. L., Dorling, M. W., Petry, C. J., Koopmans, S. J., Bent, C., Que, I., Radder, J. K., Sebokova, E., Sana, A. K., Klimes, I., Ruderman, N., Morviducci, L., Pastore, L., Morelli, S., Sagratella, E., Zorretta, D., Buongiomo, A., Tamburrano, G., Giaccari, A., Martinenghi, Sabina, Angelis, Gabriella Cusella, Ravasi, Flavio, Bifari, Francesco, Bordignon, Claudio, Falqui, Luca, Kessler, A., Dransfeld, O., Sasson, S., Tomas, E., Zorzano, A., Eckel, J., Thorsby, P., Rosenfalck, A. M., Kjems, L., Hanssen, K. F., Madsbad, S., Birkeland, K. I., Hamilton-Wessler, M., Markussen, J., Bergman, R. N., Melki, V., Hanaire-Broutin, H., Bessieres-Lacombe, S., Gedec, Study Group, Tauber, J-P, Home, P. D., Lindholm, A., Riis, A., European Insulin Aspart Study Group, Rosenstock, J., Schwartz, S., Clark, C., Edwards, M., Donley, D., Us Dm, Study Group Of Insulin Glargine In Type, Swift, P., Mortensen, H. B., Lynggaard, H., Hougaard, P., Hvidore Study group on Childhood Diabetes, Cull, C. A., Neil, H. A. W., Frighi, V., Manley, S. E., Holman, R. R., Turner, R. C., Ukpds, Group, Steiner, G., Dais, Project Group, Davis, W. A., Weeraratna, T., Bruce, D. G., Davis, T. M. E., Verges, B., Duvillard, L., Pont, F., Florentin, E., Gambert, Ph, Benko, B., Ljubic, S., Turk, Z., Granic, M., Marz, W., Wollschlager, H., Klein, G., Neiss, A., Wehling, M., Huxtable, S. J., Saker, P. J., Walker, M., Frayling, T. M., Levy, J. C., O Rahilly, S., Hattersley, A. T., Mccarthy, M. I., Orecchio, A., Giacchini, A., Dominici, R., Canettieri, G., Trinti, B., Zani, M., Andreoli, M., Sciacchitano, S., Silva, A. M., Whitecross, K., Pasco, J., Kotowicz, M., Nicholson, G., Zimmet, P., Boyko, E. J., Collier, G. R., Frittitta, L., Pizzuti, A., Argiolas, A., Graci, S., Goldfine, I. D., Bozzali, M., Ercolino, T., Costanzo, B., Iacoviello, L., Tassi, V., Trischitta, V., Wauters, M., Rankinen, T., Mertens, I., Chagnon, M., Bouchard, C., Gaal, L., Sivenius, K., Valve, R., Hakkarainen, V., Niskanen, L., Laakso, M., Uusitupa, M., Beridze, N., Japaridze, M., Kurashvili, R., Dundua, M., Kebuladze, G., Kazakhashvili, N., Offley-Shore, B., Thomas, B., Ghebremeskel, K., Crawford, M., Lowy, C., Eriksson, Ulf J., Martin Siman, C., Wisse, Bert, Gittenberger-De Groot, Adriana C., Wentzel, P., Eriksson, U. J., Wender-Ozegowska, E., Drews, K., Biczysko, R., Bronisz, A., Rosc, D., Graczykowska-Koczorowska, A., Kotschy, M., Sokup, A., Kohnert, K. D., Besch, W., Strese, J., Frick, U., Zander, E., Kemer, W., Skrha, J., Kvasnicka, J., Kalvodova, B., Hilgertova, J., Schatteman, K., Goossens, F., Scharpe, S., Leeuw, I., Hendriks, D., Legakis, I. N., Panayiotou, D., Mountokalakis, Th D., Enderle, M. D., Beckmann, P., Balletshofer, B., Rittig, K., Maerker, E., Volk, A., Meisner, C., Jacob, S., Matthaei, S., Haring, H. U., Rett, K., Ueda, K., Nakagawa, T., Shimajiri, Y., Kokawa, M., Matsumoto, E., Sasaki, H., Sanke, T., Nanjo, K., Mckinnon, Caroline M., Macfarlane, Wendy M., Docherty, Kevin, Furukawa, N., Shirotani, T., Kishikawa, H., Kaneko, K., Araki, E., Shichiri, M., Prentki, M., Roduit, R., Susini, S., Buteau, J., Ejrnas, A. M., Andersen, N. Aa, Osterhoff, M., Mohlig, M., Ortmann, J., Bikashaghi, F., Mayer, C., Bikashagi, F., Ackermans, M. T., Pereira Arias, A. M., Bisschop, P. H. L. T., Endert, E., Sauerwein, H. P., Romijn, J. A., Gastaldelli, A., Baldi, S., Pettiti, M., Natali, A., Frascerra, S., Camastra, S., Toschi, E., Ferrannini, E., Stingl, H., Krssak, M., Bischof, M. G., Krebs, M., Furnsinn, C., Nowotny, P., Waldhausl, W., Roden, M., Neeft, M., Meijer, A. J., Bavenholm, P., Pigon, J., Efendic, S., Kastenbauer, T., Sauseng, S., Sokol, G., Auinger, M., Irsigler, K., Abbott, C. A., Carrington, A. L., Faragher, B., Kulkarni, J., Ross, E. R. E., Boulton, A. J. M., Armstrong, D. G., Hadi, S., Nguyen, H. C., Harkless, L. B., Jirkovska, A., Kasalicky, P., Hosova, J., Skibova, J., Uccioli, L., Caselli, A., Giacomozzi, C., Macellari, V., Giurato, L., Lardieri, L., Menzinger, G., Pham, H. T., Rosenblum, B. I., Lyons, T. E., Giurini, J. M., Smakowski, P., Chrzan, J. S., Habershaw, G. M., Veves, A., Foster, A. M., Bates, M., Doxford, M., Edmonds, M. E., Kecha, O., Winkler, R., Martens, H., Collette, J., Lefebvre, P. J., Greiner, D., Geenen, V., Atlan-Gepner, C., Naspetti, M., Valero, R., Barad, M., Lepault, F., Vialettes, B., Naquet, P., Galan, B., Netea, M. G., Hancu, N., Smits, P., Meer, J. W. M., Osterbye, T., Jorgensen, K. H., Tranum-Jensen, J., Fredman, P., Hoy, M., Bokvist, K., Olsen, H. L., Horn, T., Gromada, J., Laub, R., Lohmann, T., Hahn, H. J., Adler, T., Emmrich, F., Rabuazzo, A. M., Lupi, R., Dotta, F., Patane, G., Marselli, L., Realacci, M., Piro, S., Del Guerra, S., Santangelo, C., Navalesi, R., Purrello, F., Marchetti, P., Vos, P., Visser, L., Haan, B. J., Klok, P., Schilfgaarde, R., Poppema, S., Juang, J-H, Kuo, C-H, Hsu, B. R-S, Nacher, V., Perez, M., Biarnes, M., Raurell, M., Soler, J., Montanya, E., Ritzel, R., Maubach, J., Busing, M., Becker, T., Klempnauer, J., Hucking, K., Schmiegel, W. H., Nauck, M. A., Boucek, P., Saudek, F., Adamec, M., Kozitarova, R., Jedinakova, T., Vlasakova, Z., Bartos, V., Maffi, P., Bertuzzi, F., Aldrighetti, L., Taglietti, M. V., Castelnuovo, A., Pozza, G., Di Carlo, V., Secchi, A., Renier, G., Mamputu, J-C, Gillespie, J. S., Mcmaster, D., Mercer, C., Trimble, E. R., Lecomte, M., Vericel, E., Paget, C., Ruggiero, D., Lagarde, M., Wiernsperger, N., Pricci, F., Leto, G., Amadio, L., Cordone, S., Iacobini, C., Catalano, S., Violi, F., Rotella, C. M., Pugliese, G., Zicari, A., Gradini, R., Sale, P., Pala, L., Cresci, B., Giannini, S., Manuelli, C., Dahlfors, G., Arnqvist, H. J., Gonelle-Gispert, C., Halnan, P. A., Sadoul, K., Wolter, S., Lang, J., Niwa, T., Yu, W., Hidaka, H., Senda, T., Niki, I., Fukasawa, T., Renstrom, E., Barg, S., Seward, E., Rorsman, P., Rutter, G. A., Molinete, M., Lilla, V., Ravazzola, M., Halban, P. A., Efanov, A. M., Bertorello, A. M., Zaitsev, S. V., Zwiller, J., Berggren, P-O, Msengul, A., Salman, F., Sargrn, M., Ozer, E., Karsidaǧ, K., Salman, S., Gedik, S., Satman, I., Dinccaǧ, N., Yilmaz, M. T., Lloyd, A., Hopkinson, P. K., Testa, M. A., Blonde, L., Turner, R. 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W., Kowalska, I., Telejko, B., Bachorzewska-Gajewska, A., Prokop, J., Kochman, W., Musial, W., Naskret, D., Oleksa, R., Zozulinska, D., Sowinski, J., Wierusz-Wysocka, B., Klamann, A., Jonas, M., Muller-Lung, U., Heuser, L., Launhardt, V., Valensi, P., Paries, J., Torremocha, F., Brulport, V., Sachs, R. N., Vanzetto, G., Levy, M., Lormeau, B., Halimi, S., Perfornis, A., Boumal, D., Zimmermann, C., Bernard, Y., Sabbah, A., Meneveau, N., Gautier, S., Bassand, J. P., Andel, M., Kraml, P., Potockova, J., Dvorakova, H., Treslova, L., Nuttall, S. L., Martin, U., Kendall, M. J., Schiaffini, R., Pantaleo, A., Battocletti, T., Vaccari, V., Brufani, C., Martuscelli, E., Gargiulo, P., Nieszner, E., Posa, I., Kocsis, E., Preda, I., Pogatsa, G., Koltai, M. Z. S., Stefanidis, A., Manoussakis, S., Handanis, S., Zairis, M., Vitalis, D., Dadiotis, L., Fiorina, P., La Rocca, E., Astorri, E., Rossetti, C., Lucignani, G., Giudici, D., Castoldi, R., Mazarakis, N., Giagiakou, E., Karavidas, A., Agellou, A., Karamani, O., Matsakas, E., Caviezel, F., Morricone, L., Ranucci, M., Denti, S., Cazzaniga, A., Enrini, R., Isgro, G., Gonzalez Molina, F. J., Sala, J., Masia, R., Marrugat, J., Kruszewski, P., Wolnik, B., Bieniaszewski, L., Swierblewska, E., Semetkowska-Jurkiewicz, E., Krupa-Wojciechowska, B., Vasilikos, P. G., Alaveras, A. E. G., Anastasopoulos, N. G., Chala, E., Sidira, M., Christakopoulos, P. D., Poulsen, P. L., Hansen, K. W., Ebbehoj, E., Knudsen, S. T., Mogensen, C. E., Ramu, Y., Vidyullatha, Y., Strojek, K., Gorska, J., Morawin, E., Ritz, E., Ciavarella, A., Malini, P. L., Strocchi, E., Fiumi, N., Ambrosioni, E., Idzior-Walus, B., Stevens, L., Mceneny, J., O Kane, M. J., Moles, K. W., Mcmaster, C., Young, I. S., Leonhardt, W., Konstadelou, E., Gurlek, Alper, Soedamah-Muthu, S., Taskinen, M. R., Ehnholm, C., Wagner, A., Bayen, Laia, Rigla, M., Ortega, E., Caixas, A., Mestron, A., Ordonez, J., Perez, A., Sotiropoulou, G., Servais, P. L., Bertolotto, A., Pilo, M., Suchankova, G., Andratschke, S., Tschop, M., Strasburger, C-J, Rizzo, L., Aerts, P., Vinckx, M., Ansquer, J. C., Ryan, M., Buter, H., Navis, G. J., Jong, P. E., Zeeuw, D., Carreras, G., Gimenez, G., Pou, J. M., Howorka, K., Gabriel, M., Pumprla, J., Koves, A., Bhowmik, N. B., Haque, A., Rahman, A., Paleari, F., Gamba, P., Mauri, G., Rovaris, G., Giannattasio, C., Piatti, M. L., Zincone, A., Cavaletti, G., Mancia, G., Lan, S., Arezzo, J., Gerber, R. A., Klioze, S. S., Saponara, C., Tartaglione, T., Cercone, S., Caputo, S., Meloni, T., Brunetti, D., Di Lazzaro, V., Xu, G., Jiang, H. Y., Shy, M. E., Sugimoto, K., Zhang, W-X, Kuchmerovskaya, T., Donchenko, G., Shymansky, I., Kuchmerovsky, N., Pakyrbaeva, L., Cameron, N. E., Keegan, A., Cotter, M. A., Mirrlees, D., Smale, S. E., Biessels, G. J., Duis, S. E. J., Kamal, A., Gispen, W. H., Carrington, A., Carman, S., Smiarowski, H., Lavoie, D., Sawicki, D., Sabetta, A., Litchfield, J., Zandt, M., Sredy, J., Smirnova, V., Strokov, I., Ivanova, L., Ichunina, A., Nakamura, J., Nakayama, M., Hamada, Y., Chaya, S., Kato, K., Kasuya, Y., Mizubayashi, R., Miwa, K., Yasuda, Y., Kamiya, H., Hotta, N., Biro, K., Kukorelli, T., Szilagyi, N., Kurthy, M., Komaromy, A., Mogyorosi, T., Nagy, K., Cakir, M., Baskal, N., Gullu, S., Elhan, A. H., Erdogan, G., Ziegler, D., Piolot, R., Neubauer, J., Senesi, B., Bonetti, R., Napolitano, A., Canepa, F., Ottonello, P., Schabmann, A., Gimenez-Perez, G., Arroyo, J. A., Lopez, T., Ponz, E., Mauricio, D., Diem, P., Zanchin, L., Suter, S. L., Lefrandt, J. D., Smit, A., Roon, A. M., Dullaart, R., Voita, D., Mackevics, V., Vitols, A., Lengyel, Cs, Farkas, Gy, Torok, T., Legrady, P., Varkonyi, T. T., Kardos, A., Gingl, Z., Kempler, P., Rudas, L., Lonovics, J., Marchand, M., Stevens, L. K., Tarnas, Gy, Eurodiab Iddm, Study Group, Estrella, F., Christensen, N. J., Keresztes, K., Barna, I., Hermanyi, Zs, Vargha, P., Bonnevie, L., Chanudet, X., Larroque, P., Tutuncu, N. Bascil, Deger, A., Batur, M. K., Yildirir, A., Onalan, O., Aksoyek, S., Kabakciota, G., Erbas, T., Galicka-Latala, D., Surdacki, A., Gerritsen, J., Tenvoorde, B. J., Heethaar, R. M., Tagawa, T. S., Kodama, M., Yoshioka, R., Yamasaki, Y., Didangelos, T., Athyros, V., Kontopoulos, A., Papageorgiou, A., Karamitsos, D., Lacigova, S., Rusavy, Z., Karova, R., Perrild, H., Kay, L., Jorgensen, T., Bien, A. I., Witek, P., Geraldes, Elizabete, Rodrigues, D., Pereira, L., Domenech, A., Leitao, P., Anagnostopoulos, D., Foster, A. V. M., Nag, S., Barsoum, M., Lewis, G., Dunlop, N., Connolly, V., Bilous, R., Kelly, W., Chantelau, E., Gede, A., Sharman, D., O Halloran, D., Best, C., Abbas, Z. G., Lutale, J., Gill, G. V., Jarvis, W. R., Archibald, L. K., Corcoran, S., Mansell, J., Pibworth, L., Terada, H., Shiba, T., Utugi, N., Utugi, T., Blum, M., Strobel, J., Hoffken, K., Razvi, F. M., Kritzinger, E. E., Taylor, K., Jones, S., Illahi, W., Grubetaer, M., Hartmann, P., Hoffstadt, K., Leiden, H. A., Moll, A. C., Polak, B. C. P., Pietragalla, G. B., Maurino, M., Montanaro, M., Karadeniz, S., Tommasini, P., Quadrini, C., Demiraj, V., Rispoli, E., Ota, A., Takama, H., Saito, N., Hemandez, C., Lepore, D., Antico, L., Giardina, B., Franconi, F., Michoud, E., Chamot, S., Riva, Ch, Hammes, H-P, Renner, O., Breier, G., Lin, J., Alt, A., Betzholtz, C., Bretzel, R. G. Rd, Manti, R., Gallo, M., Molinar Hin, A., Brignardello, E., Boccuzzi, G., Li, Shanfang, Xiang, Kunsan, Zhang, Rugeng, Shangguan, Xinhong, Wu, Jianrong, Donnan, P. T., Broomhall, J., Hunter, K., Morris, A. D., Darts Memo, Collaboration, Ioannidis, G., Peppa, M., Rontogianni, E., Kallifronas, M., Lekatsas, I., Chrysanthopoulou, G., Anthopoulos, L., Kesse, M., Thalassinos, N., Neves, C., Medina, J. L., Lopes, F., Guvener, N., Guvener, M., Kocagoz, T., Boke, E., Pasaoglu, I., Bascil Tutuncu, N., Oto, A., Karvonen, M. K., Koulu, M., Pesonen, U., Mercuri, M., Rauramaa, R., Pittsburgh Epidemiology of Diabetes Complications (EDC) Study, Rutter, M. K., Kestevan, P., Mccomb, J. M., Marshall, S. M., Sobieska, M., Wiktorowicz, K., Kanters, S. D. J. M., Banga, J. D., Algra, A., Frijns, C. J. M., Beutler, J. J., Fijnheer, R., Nicoloff, G., Baydanoff, S., Stanimirova, N., Petrova, Ch, Lario, S., Campistol, J. M., Cases, A., Claria, J., Inigo, P., Esmatjcs, E., Sarman, B., Toth, M., Kocsis, I., Somogyi, A., Bumbure, A., Jachimowicz, K., Samson, J., Tomasiak, M., Sobol, A., Stanczyk, L., Watala, C., Stradina, P., Wisniewska-Jarosinska, M., Marciniak, D., Wieclawska, B., Golanski, J., Zinnat, R., Mahmud, I., Buyukasik, Yahya, Demiroglu, H., Szczepanik, A., Skowronski, M., Murawska, A., Meeking, D. R., Allard, S., Munday, J., Chowienczyk, P., Shaw, K. M., Cummings, M. H., Simkova, R., Jirsa, M., Hadoke, P. W. F., Mcintyre, C. A., Jones, G. C., Williams, B. C., Elliott, A. I., Mcknight, J. A., Pernow, J., Bombonato, G. C., Finucci, G. F., Zotta, L., Senses, V., Ozyazgan, S., Ince, E., Tuncdemir, M., Sultuybek, G., Akkan, A. G., Unlucerci, Y., Bekpinar, S., Meyer, M. F., Lee, B. C., Shore, A. C., Humphreys, J. M., Tooke, J. E., Omo, G., Giovannitti, G., Caricato, F., Mariani, M., Pedrinelli, R., Kiviet-Boehm, C., Schwelling, V., Pfohl, M., Mcinerney, D., Itoh, H., Ohno, T., Katoh, N., Baumgartner-Parzer, S., Artwohl, M., Graier, W., Ludwig, C., Tachi, Y., Bannai, C., Shinohara, M., Shimpuku, H., Ohura, K., Bertacca, A., Sasvari, M., Szaleczki, E., Pusztai, P., Boes, U., Klaus, E., Dittrich, P., Wagner, Z., Wittmann, I., Poto, L., Wagner, L., Mazak, I., Nagy, J., Feletto, F., Taboga, C., Tonutti, L., Lizzio, S., Russo, A., Selmo, V., Ceriello, A., Lekakis, J., Papamichael, C. M., Stamatelopoulos, K., Stamatelopoulos, S., Yillar, D. O., Gay, M., Lillaz, E., Passaro, A., Vanini, A., Calzoni, F., D Elia, K., Carantoni, M., Zuliani, G., Fellin, R., Solini, A., Chwatko, G., Bald, E., Dramais, A-S, Wallemacq, P. E., Vandeleene, B., Ciaria, M. V., Ariano, M., Strom, R., Gibney, J., Weiss, U., Turner, B., O Gorman, P., Watts, G., Powrie, J., Crook, M., Shaw, K., and Cummings, M.
222. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees
- Author
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Man, P. Y., Howell, N., David Mackey AO, Nørby, S., Rosenberg, T., Turnbull, D. M., and Chinnery, P. F.
223. Defects of fatty acid oxidation in skeletal muscle
- Author
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Turnbull, D. M., primary, Bartlett, K., additional, Watmough, N. J., additional, Shepherd, I. M., additional, and Sherratt, H. S. A., additional
- Published
- 1987
- Full Text
- View/download PDF
224. Which drug for the adult epileptic patient: phenytoin or valproate?
- Author
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Turnbull, D M, primary, Howel, D, additional, Rawlins, M D, additional, and Chadwick, D W, additional
- Published
- 1985
- Full Text
- View/download PDF
225. Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex
- Author
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Birch‐Machin, M. A., primary, Shepherd, I. M., additional, Solomon, M., additional, Yeaman, S. J., additional, Gardner‐Medwin, D., additional, Sherratt, H. S. A., additional, Lindsay, J. G., additional, Aynsley‐Green, A., additional, and Turnbull, D. M., additional
- Published
- 1987
- Full Text
- View/download PDF
226. Methods for Study of Normal and Abnormal Skeletal Muscle Mitochondria
- Author
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Sherratt, H. S. A., primary, Watmough, N. J., additional, Johnson, M. A., additional, and Turnbull, D. M., additional
- Published
- 1988
- Full Text
- View/download PDF
227. Hormonal and Metabolic Studies in a Patient with a Pheochromocytoma
- Author
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TURNBULL, D. M., primary, JOHNSTON, D. G., additional, ALBERTI, K. G. M. M., additional, and HALL, R., additional
- Published
- 1980
- Full Text
- View/download PDF
228. Mitochondrial oxidations and tissue carnitine concentrations in riboflavin-deficient rats
- Author
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VEITCH, R. K., primary, MEREDITH, E. J., additional, TURNBULL, D. M., additional, and SHERRATT, H. S. A., additional
- Published
- 1985
- Full Text
- View/download PDF
229. Book Reviews
- Author
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Parker, K. J., primary, Twidell, John, additional, Lewis, Chris, additional, Lockhart-Ball, Hugh, additional, Harrington, S. N., additional, Conway, Arthur, additional, Harris-Bass, Jon, additional, Swaffield, J. A., additional, Turnbull, D. M., additional, and Smith, B. E., additional
- Published
- 1982
- Full Text
- View/download PDF
230. Defects of Complex I and Complex IV in Skeletal Muscle from Patients with Chronic Progressive External Ophthalmoplegia
- Author
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SHERRATT, H. S. A., primary, JOHNSON, M. A., additional, and TURNBULL, D. M., additional
- Published
- 1986
- Full Text
- View/download PDF
231. Carnitine palmitoyltransferase deficiency.
- Author
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Bindoff, L A, primary, Sherratt, H S, additional, Singh, R, additional, and Turnbull, D M, additional
- Published
- 1988
- Full Text
- View/download PDF
232. Mitochondrial myopathies: defects in β-oxidation
- Author
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TURNBULL, D. M., primary and SHERRATT, H. S. A., additional
- Published
- 1985
- Full Text
- View/download PDF
233. MITOCHONDRIAL OXIDATIVE ENZYME ACTIVITY IN INDIVIDUAL FIBRE TYPES IN HYPO‐ AND HYPERTHYROID RAT SKELETAL MUSCLES
- Author
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Johnson, M. A., primary and Turnbull, D. M., additional
- Published
- 1984
- Full Text
- View/download PDF
234. Endocrine myopathies.
- Author
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Kendall-Taylor, P, primary and Turnbull, D M, additional
- Published
- 1983
- Full Text
- View/download PDF
235. Systematic review of cognitive deficits in adult mitochondrial disease.
- Author
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Moore, H. L., Blain, A. P., Turnbull, D. M., and Gorman, G. S.
- Subjects
- *
META-analysis , *COGNITION disorders , *COGNITIVE ability , *DISEASES , *ENGLISH language - Abstract
The profile and trajectory of cognitive impairment in mitochondrial disease are poorly defined. This systematic review sought to evaluate the current literature on cognition in mitochondrial disease, and to determine future research directions. A systematic review was conducted, employing PubMed, Medline, Psycinfo, Embase and Web of Science, and 360‐degree citation methods. English language papers on adult patients were included. The literature search yielded 2421 articles, of which 167 met inclusion criteria. Case reports and reviews of medical reports of patients yielded broad diagnoses of dementia, cognitive impairment and cognitive decline. In contrast, systematic investigations of cognitive functioning using detailed cognitive batteries identified focal cognitive rather than global deficits. Results were variable, but included visuospatial functioning, memory, attention, processing speed and executive functions. Conclusions from studies have been hampered by small sample sizes, variation in genotype and the breadth and depth of assessments undertaken. Comprehensive cognitive research with concurrent functional neuroimaging and physical correlates of mitochondrial disease in larger samples of well‐characterized patients may discern the aetiology and progression of cognitive deficits. These data provide insights into the pattern and trajectory of cognitive impairments, which are invaluable for clinical monitoring, health planning and clinical trial readiness. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
236. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
- Author
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Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW, Whittaker, R G, Blackwood, J K, Alston, C L, Blakely, E L, Elson, J L, McFarland, R, Chinnery, P F, Turnbull, D M, and Taylor, R W
- Published
- 2009
- Full Text
- View/download PDF
237. A diagnostic tattoo.
- Author
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Whittaker, R. G. and Turnbull, D. M.
- Subjects
- *
INFANTILE spasms , *ATAXIA , *MUSCLES , *TATTOOED people , *MITOCHONDRIAL pathology - Abstract
The hallmarks of the myoclonic epilepsy with ragged red fibers (MERRF) syndrome are myoclonic epilepsy, ataxia and ragged red fibres detected on muscle biopsy. We present a case of a 25-year-old male who first presented to his general practitioner at the age of 22 years with myoclonic jerks affecting the arms and legs, fatigue and mild ataxia. He was found to carry an A>G transition at nucleotide 8344 in mitochondrial DNA. This mutation is the most common cause of the MERRF syndrome, found in more than 80% of affected patients. Our patient had the diagnosis tattooed on his arm, both out of frustration at how few people had heard of it, and as a way of accepting that his condition was a part of who he was. Although the MERRF syndrome is one of the more common forms of mitochondrial encephalomyopathy, with a prevalence estimated at between 0.25 and 0.39 per 100,000, it is still a rare disorder. We are always striving to increase the public’s understanding of these important conditions. Our patient has perhaps helped more than most towards this aspiration. [ABSTRACT FROM AUTHOR]
- Published
- 2009
- Full Text
- View/download PDF
238. Hyperemesis gravidarum and first trimester sagittal sinus thrombosis.
- Author
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Kennelly, M. M., Baker, M. R., Birchall, D., Hanley, J. P., Turnbull, D. M., and Loughney, A. D.
- Subjects
SINUS thrombosis ,MATERNAL health ,VOMITING ,PREGNANCY complications ,HEMORRHAGE diagnosis ,THROMBOLYTIC therapy - Abstract
The article presents a case study of a 26-year-old, first-time pregnant woman brought to a tertiary care hospital after experiencing eleven weeks of vomiting, headaches and tonic clonic seizures. She was diagnosed having an extensive thrombus within her superior sagittal sinus with secondary hemorrhage in the right parietal lobe. Anticoagulant drugs were maintained for 36 weeks until she delivered her live-born female baby in healthy condition.
- Published
- 2008
- Full Text
- View/download PDF
239. No evidence of an association between the mtDNA 16184-93 polyC tract and late onset dementia.
- Author
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Keers, S. M., Gibson, A. M., Turnbull, D. M., and Chinnery, P. F.
- Subjects
LETTERS to the editor ,DEMENTIA - Abstract
Presents a letter to the editor in response to the article on 16189C polymorphic sequence variant and late onset dementia.
- Published
- 2004
- Full Text
- View/download PDF
240. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation.
- Author
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Deschauer, M., Chinnery, P. F., Schaefer, A. M., Turnbull, D. M., Taylor, R. W., Zierz, S., Shanske, S., Dimauro, S., Majamaa, K., Wilichowski, E., and Thorburn, D. R.
- Subjects
EYE paralysis ,MITOCHONDRIA ,DNA ,CEREBROVASCULAR disease ,DIABETES ,ACIDOSIS - Abstract
This article focuses on a study that finds no association of the mitochondrial DNA A 12308G polymorphism with increased risk of stroke in patients with the A3242G mutation. Only 50% of patients carrying the A3243G mutation have stroke-like episodes and the reason for this clinical variability remains poorly understood. It is responsible for 80% of cases of MELAS, mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, and is also associated with several other phenotypes including maternally inherited diabetes and deafness and chronic progressive external ophthalmoplegia. Researchers carried out a large, multicentre study to investigate the A12308G polymorphism in a group of 107 unrelated family index cases harbouring the A3243G mutation.
- Published
- 2004
- Full Text
- View/download PDF
241. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
- Author
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Y W Man, P, Brown, D T, Wehnert, M S, Zeviani, M, Carrara, F, Turnbull, D M, Chinnery, P F, and Yu-Wai-Man, P
- Published
- 2002
- Full Text
- View/download PDF
242. Intermediate expansions of a X25/frataxin gene GAA repeat and Type II diabetes: assessment using parent-offspring trios.
- Author
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Lynn, S., Hattersley, A.T., McCarthy, M. I., Frayling, T. M., Turnbull, D. M., and Walker, M.
- Subjects
LETTERS to the editor ,TYPE 2 diabetes - Abstract
Presents a letter to the editor regarding the importance of intermediate expansions in type II diabetes.
- Published
- 2000
243. Review: Central nervous system involvement in mitochondrial disease.
- Author
-
Lax, N. Z., Gorman, G. S., and Turnbull, D. M.
- Subjects
- *
CENTRAL nervous system , *MITOCHONDRIAL pathology , *DNA mutational analysis , *NEUROLOGICAL disorders , *QUALITY of life - Abstract
Mitochondrial respiratory chain defects are an important cause of inherited disorders affecting approximately 1 in 5000 people in the UK population. Collectively these disorders are termed 'mitochondrial diseases' and they result from either mitochondrial DNA mutations or defects in nuclear DNA. Although they are frequently multisystem disorders, neurological deficits are particularly common, wide-ranging and disabling for patients. This review details the manifold neurological impairments associated with mitochondrial disease, and describes the efforts to understand how they arise and progressively worsen in patients with mitochondrial disease. We describe advances in our understanding of disease pathogenesis through detailed neuropathological studies and how this has spurred the development of cellular and animal models of disease. We underscore the importance of continued clinical, molecular genetic, neuropathological and animal model studies to fully characterize mitochondrial diseases and understand mechanisms of neurodegeneration. These studies are instrumental for the next phase of mitochondrial research that has a particular emphasis on finding novel ways to treat mitochondrial disease to improve patient care and quality of life. [ABSTRACT FROM AUTHOR]
- Published
- 2017
- Full Text
- View/download PDF
244. Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.
- Author
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Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM, Aitken, H, Gorman, G, McFarland, R, Roberts, M, Taylor, R W, and Turnbull, D M
- Published
- 2009
- Full Text
- View/download PDF
245. Mitochondrial Disease-Its Impact, Etiology, and Pathology.
- Author
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McFarland, R., Taylor, R. W., and Turnbull, D. M.
- Subjects
MITOCHONDRIAL pathology - Abstract
An abstract of the article "Mitochondrial Disease-Its Impact, Etiology, and Pathology," by R. McFarland and colleagues is presented.
- Published
- 2007
- Full Text
- View/download PDF
246. Sequence Variation in the Mitochondrial Genome: What Is the Pathogenic Mutation?
- Author
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Taylor, Robert W., Elson, J. L., McFarland, R., Mitchell, A. L., Howell, N., and Turnbull, D. M.
- Subjects
MITOCHONDRIAL DNA - Abstract
Presents an abstract of the article "Sequence Variation in the Mitochondrial Genome: What is the Pathogenic Mutation?" by Robert W. Taylor, J.L. Elson, R. McFarland, A.L. Mitchell, N. Howell, and D.M. Turnbull.
- Published
- 2005
247. The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease.
- Author
-
Cottrell, D. A., Borthwick, G. M., Johnson, M. A., Ince, P. G., and Turnbull, D. M.
- Subjects
ALZHEIMER'S disease ,NEURONS ,MITOCHONDRIAL pathology ,CYTOCHROME oxidase - Abstract
Defects of mitochondrial function have been proposed as a potential mechanism in the development and pathogenesis of Alzheimer's disease (AD) and neuronal apoptosis. Mitochondrial enzyme-deficient pyramidal neurones are found in greater quantities in the hippocampus of AD patients than in age-matched controls. The presence of these neurones indicates that high levels of mutant mtDNA (mitochondrial DNA), sufficient to cause a biochemical deficiency within individual neurones, occur more frequently in AD than in normal ageing. This study analyses the relationship of cytochrome c oxidase (COX)-deficient neurones with the neuropathological markers of AD, neurofibrillary tangles (NFTs) and amyloid plaques, as well as markers of neuronal apoptosis known to occur in AD brains. Frozen sections of hippocampi from three AD patients were used to directly colocalize in situ the presence of histochemically COX-deficient neurones with immunohistology for the classical neuropathological markers of AD, tau and β-amyloid. In addition, we also directly colocalized these mitochondrial-enzyme deficient neurones using terminal deoxynucleotidyl transferase-mediated dUTP nick end labelling and cleaved caspase-3. The distribution of amyloid plaques is anatomically distinct from the COX-deficient hippocampal pyramidal neurones and the neurones that contained NFTs or apoptotic labelling were always COX-positive. COX-deficient, succinate dehydrogenase-positive hippocampal neurones indicative of high mtDNA mutation load do not appear to be prone to apoptosis or to directly participate in the over production of tau or β-amyloid. Biochemically significant mitochondrial defects do occur in AD and are likely to contribute to the overall central nervous system dysfunction in impairing neuronal function and possibly causing neurodegeneration via mechanisms other than apoptosis. [ABSTRACT FROM AUTHOR]
- Published
- 2002
- Full Text
- View/download PDF
248. Peptide nucleic acid and delivery to human mitochondria.
- Author
-
Chinnery, P F, Taylor, R W, Diekert, K, Lill, R, Turnbull, D M, and Lightowlers, R N
- Subjects
GENE therapy - Abstract
Presents the correction of an error made in the article on peptide nucleid acid delivery to human mitochondria for gene therapy.
- Published
- 2000
- Full Text
- View/download PDF
249. Mitochondrial cytopathies: clinical and experimental studies
- Author
-
Turnbull, D. M.
- Subjects
- 616.07
- Published
- 1983
250. Sodium Valproate : clinical and biochemical studies
- Author
-
Turnbull, D. M.
- Subjects
- 615.1
- Published
- 1983
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