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Your search keyword '"Turnbull, Douglass M."' showing total 28 results
Start Over Author "Turnbull, Douglass M." Journal annals of neurology
28 results on '"Turnbull, Douglass M."'

2. Reply

Author

Whittaker, Roger G., primary, Gorman, Grainne, additional, Ng, Yi, additional, and Turnbull, Douglass M., additional

Published
2016
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3. Epilepsy in adults with mitochondrial disease: A cohort study

Author

Whittaker, Roger G., primary, Devine, Helen E., additional, Gorman, Grainne S., additional, Schaefer, Andrew M., additional, Horvath, Rita, additional, Ng, Yi, additional, Nesbitt, Victoria, additional, Lax, Nichola Z., additional, McFarland, Robert, additional, Cunningham, Mark O., additional, Taylor, Robert W., additional, and Turnbull, Douglass M., additional

Published
2015
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4. Reply

Author

Elstner, Matthias, primary, Lichtner, Peter, additional, Schulte, Claudia, additional, Gasser, Thomas, additional, Meitinger, Thomas, additional, Prokisch, Holger, additional, and Turnbull, Douglass M., additional

Published
2010
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5. Single‐cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

Author

Elstner, Matthias, primary, Morris, Christopher M., additional, Heim, Katharina, additional, Lichtner, Peter, additional, Bender, Andreas, additional, Mehta, Divya, additional, Schulte, Claudia, additional, Sharma, Manu, additional, Hudson, Gavin, additional, Goldwurm, Stefano, additional, Giovanetti, Alessandro, additional, Zeviani, Massimo, additional, Burn, David J., additional, McKeith, Ian G., additional, Perry, Robert H., additional, Jaros, E., additional, Krüger, Rejko, additional, Wichmann, H.‐Erich, additional, Schreiber, Stefan, additional, Campbell, Harry, additional, Wilson, James F., additional, Wright, Alan F., additional, Dunlop, Malcolm, additional, Pistis, Giorgio, additional, Toniolo, Daniela, additional, Chinnery, Patrick F., additional, Gasser, Thomas, additional, Klopstock, Thomas, additional, Meitinger, Thomas, additional, Prokisch, Holger, additional, and Turnbull, Douglass M., additional

Published
2009
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6. Reply

Author

Schaefer, Andrew M., primary, Whittaker, Roger, additional, McFarland, Robert, additional, Chinnery, Patrick F., additional, Taylor, Robert W., additional, and Turnbull, Douglass M., additional

Published
2008
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7. Prevalence of mitochondrial DNA disease in adults

Author

Schaefer, Andrew M., primary, McFarland, Robert, additional, Blakely, Emma L., additional, He, Langping, additional, Whittaker, Roger G., additional, Taylor, Robert W., additional, Chinnery, Patrick F., additional, and Turnbull, Douglass M., additional

Published
2007
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11. De novo mutations in the mitochondrialND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Author

McFarland, Robert, primary, Kirby, Denise M., additional, Fowler, Kerry J., additional, Ohtake, Akira, additional, Ryan, Michael T., additional, Amor, David J., additional, Fletcher, Janice M., additional, Dixon, Joanne W., additional, Collins, Felicity A., additional, Turnbull, Douglass M., additional, Taylor, Robert W., additional, and Thorburn, David R., additional

Published
2003
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17. Mitochondrial function in muscle from elderly athletes

Author

Brierley, Elizabeth J., primary, Johnson, Margaret A., additional, Bowman, Andrew, additional, Ford, Gary A., additional, Subhan, Feisel, additional, Reed, James W., additional, James, OliverF. W., additional, and Turnbull, Douglass M., additional

Published
1997
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19. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia

Author

Taylor, Robert W., primary, Birch-Machin, Mark A., additional, Schaefer, Jochen, additional, Taylor, Louise, additional, Shakir, Raad, additional, Ackrell, Brian A. C., additional, Cochran, Bruce, additional, Bindoff, Laurence A., additional, Jackson, Margaret J., additional, Griffiths, Philip, additional, and Turnbull, Douglass M., additional

Published
1996
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21. Prevalence of mitochondrial DNA disease in adults.

Author

Schaefer, Andrew M., McFarland, Robert, Blakely, Emma L., He, Langping, Whittaker, Roger G., Taylor, Robert W., Chinnery, Patrick F., and Turnbull, Douglass M.

Abstract

Objective Diverse and variable clinical features, a loose genotype-phenotype relationship, and presentation to different medical specialties have all hindered attempts to gauge the epidemiological impact of mitochondrial DNA (mtDNA) disease. Nevertheless, a clear understanding of its prevalence remains an important goal, particularly about planning appropriate clinical services. Consequently, the aim of this study was to accurately define the prevalence of mtDNA disease (primary mutation occurs in mtDNA) in the working-age population of the North East of England. Methods Adults with suspected mitochondrial disease in the North East of England were referred to a single neurology center for investigation from 1990 to 2004. Those with pathogenic mtDNA mutations were identified and pedigree analysis performed. For the midyear period of 2001, we calculated the minimum point prevalence of mtDNA disease for adults of working age (>16 and <60/65 years for female/male patients, respectively). Results In this population, we found that 9.2 in 100,000 people have clinically manifest mtDNA disease, making this one of the commonest inherited neuromuscular disorders. In addition, a further 16.5 in 100,000 children and adults younger than retirement age are at risk for development of mtDNA disease. Interpretation Through detailed pedigree analysis and active family tracing, we have been able to provide revised minimum prevalence figures for mtDNA disease. These estimates confirm that mtDNA disease is a common cause of chronic morbidity and is more prevalent than has been previously appreciated. Ann Neurol 2007 [ABSTRACT FROM AUTHOR]

Published
2008
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24. De novo mutations in the mitochondrial <TOGGLE>ND3</TOGGLE> gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Author

McFarland, Robert, Kirby, Denise M., Fowler, Kerry J., Ohtake, Akira, Ryan, Michael T., Amor, David J., Fletcher, Janice M., Dixon, Joanne W., Collins, Felicity A., Turnbull, Douglass M., and Taylor, Robert W.

Abstract

Both nuclear and mitochondrial DNA mutations can cause energy generation disorders. Respiratory chain complex I deficiency is the most common energy generation disorder and a frequent cause of infantile mitochondrial encephalopathies such as Leigh's disease and lethal infantile mitochondrial disease. Most such cases have been assumed to be caused by nuclear gene defects, but recently an increasing number have been shown to be caused by mutations in the mitochondrially encoded complex I subunit genes ND4, ND5, and ND6. We report the first four cases of infantile mitochondrial encephalopathies caused by mutations in the ND3 subunit gene. Three unrelated children have the same novel heteroplasmic mutation (T10158C), only the second mutation reported in ND3, and one has the previously identified T10191C mutation. Both mutations cause disproportionately greater reductions in enzyme activity than in the amount of fully assembled complex I, suggesting the ND3 subunit plays an unknown but important role in electron transport, proton pumping, or ubiquinone binding. Three cases appear to have a de novo mutation, with no mutation detected in maternal relatives. Mitochondrial DNA disease may be considerably more prevalent in the pediatric population than currently predicted and should be considered in patients with infantile mitochondrial encephalopathies and complex I deficiency.

Published
2004
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25. De novo mutations in the mitochondrial ND3gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Author

McFarland, Robert, Kirby, Denise M., Fowler, Kerry J., Ohtake, Akira, Ryan, Michael T., Amor, David J., Fletcher, Janice M., Dixon, Joanne W., Collins, Felicity A., Turnbull, Douglass M., Taylor, Robert W., and Thorburn, David R.

Abstract

Both nuclear and mitochondrial DNA mutations can cause energy generation disorders. Respiratory chain complex I deficiency is the most common energy generation disorder and a frequent cause of infantile mitochondrial encephalopathies such as Leigh's disease and lethal infantile mitochondrial disease. Most such cases have been assumed to be caused by nuclear gene defects, but recently an increasing number have been shown to be caused by mutations in the mitochondrially encoded complex I subunit genes ND4, ND5, and ND6. We report the first four cases of infantile mitochondrial encephalopathies caused by mutations in the ND3subunit gene. Three unrelated children have the same novel heteroplasmic mutation (T10158C), only the second mutation reported in ND3, and one has the previously identified T10191C mutation. Both mutations cause disproportionately greater reductions in enzyme activity than in the amount of fully assembled complex I, suggesting the ND3 subunit plays an unknown but important role in electron transport, proton pumping, or ubiquinone binding. Three cases appear to have a de novo mutation, with no mutation detected in maternal relatives. Mitochondrial DNA disease may be considerably more prevalent in the pediatric population than currently predicted and should be considered in patients with infantile mitochondrial encephalopathies and complex I deficiency.

Published
2004
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27. Molecular analysis of cytochromecOxidase deficiency in Leigh's syndrome

Author

Adams, Paula L., Lightowlers, Robert N., and Turnbull, Douglass M.

Abstract

Cytochrome coxidase deficiency is the most common biochemical defect associated with Leigh's syndrome. The genetic defect responsible for this deficiency has not been identified in any patient with Leigh's syndrome. Given that this disorder appears to be inherited as an autosomal recessive trait, this would suggest prima facie that one of the nuclear DNA—encoded cytochrome coxidase subunits is affected. We report the first detailed sequence analysis of all 10 cytochrome coxidase nuclear complementary DNAs and the cytochrome coxidase mitochondrial genes in a Leigh's syndrome patient with cytochrome coxidase deficiency. No pathological mutations were identified in any of the cytochrome coxidase structural genes.

Published
1997
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28. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

Author

McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, and Thorburn DR

Subjects
Blotting, Western, DNA Mutational Analysis, DNA, Mitochondrial analysis, Female, Humans, Infant, Newborn, Leigh Disease genetics, Male, Mitochondrial Encephalomyopathies enzymology, Muscle, Skeletal pathology, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Electron Transport Complex I deficiency, Mitochondrial Encephalomyopathies genetics, Mutation, Proteins genetics
Abstract

Both nuclear and mitochondrial DNA mutations can cause energy generation disorders. Respiratory chain complex I deficiency is the most common energy generation disorder and a frequent cause of infantile mitochondrial encephalopathies such as Leigh's disease and lethal infantile mitochondrial disease. Most such cases have been assumed to be caused by nuclear gene defects, but recently an increasing number have been shown to be caused by mutations in the mitochondrially encoded complex I subunit genes ND4, ND5, and ND6. We report the first four cases of infantile mitochondrial encephalopathies caused by mutations in the ND3 subunit gene. Three unrelated children have the same novel heteroplasmic mutation (T10158C), only the second mutation reported in ND3, and one has the previously identified T10191C mutation. Both mutations cause disproportionately greater reductions in enzyme activity than in the amount of fully assembled complex I, suggesting the ND3 subunit plays an unknown but important role in electron transport, proton pumping, or ubiquinone binding. Three cases appear to have a de novo mutation, with no mutation detected in maternal relatives. Mitochondrial DNA disease may be considerably more prevalent in the pediatric population than currently predicted and should be considered in patients with infantile mitochondrial encephalopathies and complex I deficiency.

Published
2004
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