Works matching AU Turnbull, Douglass M.

Results: 90

Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations.

Published in:

Scientific Reports, 2014, p. 1, doi. 10.1038/srep03844

By:

Greggains, Gareth D.;
Lister, Lisa M.;
Tuppen, Helen A. L.;
Zhang, Qi;
Needham, Louise H.;
Prathalingam, Nilendran;
Hyslop, Louise A.;
Craven, Lyndsey;
Polanski, Zbigniew;
Murdoch, Alison P.;
Turnbull, Douglass M.;
Herbert, Mary

Publication type:

Article

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.

Published in:

European Heart Journal, 2016, v. 37, n. 32, p. 2552, doi. 10.1093/eurheartj/ehv306

By:

Yi Shiau Ng;
Grady, John P.;
Lax, Nichola Z.;
Bourke, John P.;
Alston, Charlotte L.;
Hardy, Steven A.;
Falkous, Gavin;
Schaefer, Andrew G.;
Radunovic, Aleksandar;
Mohiddin, Saidi A.;
Ralph, Matilda;
Alhakim, Ali;
Taylor, Robert W.;
McFarland, Robert;
Turnbull, Douglass M.;
Gorman, Gráinne S.

Publication type:

Article

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.

Published in:

European Heart Journal, 2012, v. 33, n. 24, p. 3023, doi. 10.1093/eurheartj/ehs275

By:

Bates, Matthew G. D.;
Bourke, John P.;
Giordano, Carla;
d'Amati, Giulia;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28.

Published in:

JAMA Neurology, 2015, v. 72, n. 1, p. 106, doi. 10.1001/jamaneurol.2014.1753

By:

Gorman, Gráinne S.;
Pfeffer, Gerald;
Griffin, Helen;
Blakely, Emma L.;
Kurzawa-Akanbi, Marzena;
Gabriel, Jessica;
Sitarz, Kamil;
Roberts, Mark;
Schoser, Benedikt;
Pyle, Angela;
Schaefer, Andrew M.;
McFarland, Robert;
Turnbull, Douglass M.;
Horvath, Rita;
Chinnery, Patrick F.;
Taylor, Robert W.

Publication type:

Article

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

Published in:

Nucleic Acids Research, 2008, v. 36, n. 9, p. 3065, doi. 10.1093/nar/gkn147

By:

Rorbach, Joanna;
Yusoff, Abdul Aziz;
Tuppen, Helen;
Abg-Kamaludin, Dyg P.;
Chrzanowska-Lightowlers, Zofia M.A.;
Taylor, Robert W.;
Turnbull, Douglass M.;
McFarland, Robert;
Lightowlers, Robert N.

Publication type:

Article

Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.

Published in:

Nucleic Acids Research, 2006, v. 34, n. 13, p. e95, doi. 10.1093/nar/gkl516

By:

Pye, Deborah;
Kyriakouli, Dimitra S.;
Taylor, Geoffrey A.;
Johnson, Riem;
Elstner, Matthias;
Meunier, Brigitte;
Chrzanowska-Lightowlers, Zofia M. A.;
Taylor, Robert W.;
Turnbull, Douglass M.;
Lightowlers, Robert N.

Publication type:

Article

Detection and quantification of mitochondrial DNA deletions in individual cells by real‐time PCR.

Published in:

Nucleic Acids Research, 2002, v. 30, n. 14, p. e68

By:

He, Langping;
Chinnery, Patrick F.;
Durham, Steve E.;
Blakely, Emma L.;
Wardell, Theresa M.;
Borthwick, Gillian M.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates.

Published in:

Nucleic Acids Research, 2001, v. 29, n. 16, p. 3404, doi. 10.1093/nar/29.16.3404

By:

Taylor, Robert W.;
Wardell, Theresa M.;
Connolly, Bernard A.;
Turnbull, Douglass M.;
Lightowlers, Robert N.

Publication type:

Article

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.

Published in:

Nucleic Acids Research, 2001, v. 29, n. 15, p. e74, doi. 10.1093/nar/29.15.e74

By:

Taylor, Robert W.;
Taylor, Geoffrey A.;
Durham, Steve E.;
Turnbull, Douglass M.

Publication type:

Article

Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 6, p. 650, doi. 10.1038/ejhg.2011.262

By:

van der Walt, Elizna M;
Smuts, Izelle;
Taylor, Robert W;
Elson, Joanna L;
Turnbull, Douglass M;
Louw, Roan;
van der Westhuizen, Francois H

Publication type:

Article

Maternally inherited mitochondrial DNA disease in consanguineous families.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1226, doi. 10.1038/ejhg.2011.124

By:

Alston, Charlotte L;
He, Langping;
Morris, Andrew A;
Hughes, Imelda;
Goede, Christian de;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W

Publication type:

Article

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 7, p. 769, doi. 10.1038/ejhg.2011.18

By:

Swalwell, Helen;
Kirby, Denise M.;
Blakely, Emma L.;
Mitchell, Anna;
Salemi, Renato;
Sugiana, Canny;
Compton, Alison G.;
Tucker, Elena J;
Ke, Bi-Xia;
Lamont, Phillipa J.;
Turnbull, Douglass M;
McFarland, Robert;
Taylor, Robert W.;
Thorburn, David R.

Publication type:

Article

A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?

Published in:

European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1265, doi. 10.1038/ejhg.2008.65

By:

Swalwell, Helen;
Blakely, Emma L.;
Sutton, Ruth;
Tonska, Kasia;
Elstner, Matthias;
Langping He;
Taivassalo, Tanja;
Burns, Dennis K.;
Turnbull, Douglass M.;
Haller, Ronald G.;
Davidson, Mercy M.;
Taylor, Robert W.

Publication type:

Article

LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 5, p. 623, doi. 10.1038/sj.ejhg.5201363

By:

Blakely, Emma L.;
de Silva, Rajith;
King, Andrew;
Schwarzer, Verena;
Harrower, Tim;
Dawidek, Gervase;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Noninvasive diagnosis of the 3243A>G mitochondrial DNA mutation using urinary epithelial cells.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 778, doi. 10.1038/sj.ejhg.5201216

By:

Mcdonnell, Martina T.;
Schaefer, Andrew M.;
Blakely, Emma L.;
McFarland, Robert;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 2, p. 141, doi. 10.1038/sj.ejhg.5200773

By:

Taylor, Robert W.;
Morris, Andrew A.M.;
Hutchinson, Michael;
Turnbull, Douglass M.

Publication type:

Article

A double-blind, placebo-controlled, crossover study of verapamil in exertional muscle pain.

Published in:

Muscle & Nerve, 1986, v. 9, n. 7, p. 635, doi. 10.1002/mus.880090710

By:

Lane, Russell J. M.;
Turnbull, Douglass M.;
Welch, John L.;
Walton, John

Publication type:

Article

Letters to the editor.

Published in:

Muscle & Nerve, 1984, v. 7, n. 7, p. 590, doi. 10.1002/mus.880070709

By:

Streib, Erich W.;
Lane, Russell J. M.;
Turnbull, Douglass M.;
Hudgson, Peter;
Walton, John;
Brumback, Roger A.;
Gerst, Jeffery W.;
Heckmatt, John Z.;
Dubowitz, Victor;
Taratuto, Ana Lia;
Dubrovsky, Alberto

Publication type:

Article

Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity.

Published in:

Stem Cells, 2015, v. 33, n. 7, p. 2306, doi. 10.1002/stem.2042

By:

Stoll, Elizabeth A.;
Turnbull, Douglass M.;
Miwa, Satomi;
Trevelyan, Andrew J.;
Makin, Rebecca;
Sweet, Ian R.;
Horner, Philip J.

Publication type:

Article

Concise Reviews: Assisted Reproductive Technologies to Prevent Transmission of Mitochondrial DNA Disease.

Published in:

Stem Cells, 2015, v. 33, n. 3, p. 639, doi. 10.1002/stem.1887

By:

Richardson, Jessica;
Irving, Laura;
Herbert, Mary;
Hyslop, Louise A.;
Turnbull, Douglass M.;
Choudhary, Meenakshi;
Murdoch, Alison

Publication type:

Article

High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.

Published in:

Nature Genetics, 2006, v. 38, n. 5, p. 515, doi. 10.1038/ng1769

By:

Bender, Andreas;
Krishnan, Kim J.;
Morris, Christopher M.;
Taylor, Geoffrey A.;
Reeve, Amy K.;
Perry, Robert H.;
Jaros, Evelyn;
Hersheson, Joshua S.;
Betts, Joanne;
Klopstock, Thomas;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

A roundabout route to gene therapy.

Published in:

Nature Genetics, 2002, v. 30, n. 4, p. 345, doi. 10.1038/ng0402-345

By:

Turnbull, Douglass M.;
Lightowlers, Robert N.

Publication type:

Article

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

Published in:

Nature Genetics, 2002, v. 30, n. 2, p. 145, doi. 10.1038/ng819

By:

McFarland, Robert;
Clark, Kim M.;
Morris, Andrew A.M.;
Taylor, Robert W.;
Macphail, Sheila;
Lightowlers, Robert N.;
Turnbull, Douglass M.

Publication type:

Article

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.

Published in:

Nature Genetics, 1999, v. 23, n. 2, p. 147, doi. 10.1038/13779

By:

Andrews, Richard M.;
Kubacka, Iwona;
Chinnery, Patrick F.;
Lightowlers, Robert N.;
Turnbull, Douglass M.;
Howell, Neil

Publication type:

Article

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.

Published in:

FEBS Journal, 2005, v. 272, n. 14, p. 3583, doi. 10.1111/j.1742-4658.2005.04779.x

By:

Blakely, Emma L.;
Mitchell, Anna L.;
Fisher, Nicholas;
Meunier, Brigitte;
Nijtmans, Leo G.;
Schaefer, Andrew M.;
Jackson, Margaret J.;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing.

Published in:

PLoS Genetics, 2014, v. 10, n. 9, p. 1, doi. 10.1371/journal.pgen.1004620

By:

Greaves, Laura C.;
Nooteboom, Marco;
Elson, Joanna L.;
Tuppen, Helen A. L.;
Taylor, Geoffrey A.;
Commane, Daniel M.;
Arasaradnam, Ramesh P.;
Khrapko, Konstantin;
Taylor, Robert W.;
Kirkwood, Thomas B. L.;
Mathers, John C.;
Turnbull, Douglass M.

Publication type:

Article

The Challenges of Mitochondrial Replacement.

Published in:

2014

By:

Chinnery, Patrick F.;
Craven, Lyndsey;
Mitalipov, Shoukhrat;
Stewart, James B.;
Herbert, Mary;
Turnbull, Douglass M.

Publication type:

Opinion

Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period.

Published in:

Journal of Maternal-Fetal & Neonatal Medicine, 2006, v. 19, n. 9, p. 587, doi. 10.1080/14767050600632623

By:

Gupta, Samir;
Wyllie, Jonathan;
Wright, Chris;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease.

Published in:

Journal of the Peripheral Nervous System, 2013, v. 18, n. 1, p. 59, doi. 10.1111/jns5.12009

By:

Whittaker, Roger G.;
Hall, Elizabeth;
Mansoor, Muhammad K.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Can mitochondrial DNA mutations cause sperm dysfunction?

Published in:

Molecular Human Reproduction, 2002, v. 8, n. 8, p. 719, doi. 10.1093/molehr/8.8.719

By:

Spiropoulos, John;
Turnbull, Douglass M.;
Chinnery, Patrick F.

Publication type:

Article

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†.

Published in:

2013

By:

Bates, Matthew G.D.;
Hollingsworth, Kieren G.;
Newman, Jane H.;
Jakovljevic, Djordje G.;
Blamire, Andrew M.;
MacGowan, Guy A.;
Keavney, Bernard D.;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Taylor, Robert W.;
Trenell, Michael I.;
Gorman, Grainne S.

Publication type:

Journal Article

Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers†.

Published in:

European Heart Journal - Cardiovascular Imaging, 2013, v. 14, n. 7, p. 650, doi. 10.1093/ehjci/jes226

By:

Bates, Matthew G.D.;
Hollingsworth, Kieren G.;
Newman, Jane H.;
Jakovljevic, Djordje G.;
Blamire, Andrew M.;
MacGowan, Guy A.;
Keavney, Bernard D.;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Taylor, Robert W.;
Trenell, Michael I.;
Gorman, Grainne S.

Publication type:

Article

The ischaemic lactate–ammonia test.

Published in:

Annals of Clinical Biochemistry, 2001, v. 38, n. 4, p. 304, doi. 10.1258/0004563011900786

By:

Livingstone, Callum;
Chinnery, Patrick F.;
Turnbull, Douglass M.

Publication type:

Article

Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?

Published in:

2007

By:

Whittaker RG;
Schaefer AM;
McFarland R;
Taylor RW;
Walker M;
Turnbull DM;
Whittaker, Roger G;
Schaefer, Andrew M;
McFarland, Robert;
Taylor, Robert W;
Walker, Mark;
Turnbull, Douglass M

Publication type:

journal article

Diabetes and Deafness.

Published in:

Diabetes Care, 2007, v. 30, n. 9, p. 2238, doi. 10.2337/dc07-0466

By:

Whittaker, Roger G.;
Schaefer, Andrew M.;
McFarland, Robert;
Taylor, Robert W.;
Walker, Mark;
Turnbull, Douglass M.

Publication type:

Article

Insulin sensitivity and mitochondrial gene mutation.

Published in:

1995

By:

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;
Turnbull, D M

Publication type:

commentary

Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.

Published in:

1994

By:

Jackson, Margaret J.;
Bindoff, Laurence A.;
Weber, Katharina;
Wilson, Jonathan N.;
Ince, Paul;
Alberti, K. George M. M.;
Turnbull, Douglass M.;
Jackson, M J;
Bindoff, L A;
Weber, K;
Wilson, J N;
Ince, P;
Alberti, K G;
Turnbull, D M

Publication type:

journal article

Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNA<sup>Lys</sup> mutation.

Published in:

Journal of Neurology, 2007, v. 254, n. 9, p. 1283, doi. 10.1007/s00415-006-0490-7

By:

Blakely, Emma L.;
Swalwell, Helen;
Petty, Richard K. H.;
McFarland, Robert;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?

Published in:

Journal of Neurology, 2007, v. 254, n. 8, p. 1138, doi. 10.1007/s00415-006-0484-5

By:

Whittaker, Roger G.;
Schaefer, Andrew M.;
Taylor, Robert W.;
Turnbull, Douglass M.

Publication type:

Article

Investigation of the mitochondrial genome in patients with atypical motor neuron disease.

Published in:

Journal of Neurology, 2007, v. 254, n. 4, p. 482, doi. 10.1007/s00415-006-0399-1

By:

Phoenix, Catherine;
Taylor, Geoffrey A.;
Hartley, Judith;
Nixon, Hannah;
Ince, Paul G.;
Shaw, Pamela J.;
Turnbull, Douglass M.;
Taylor, Robert W.

Publication type:

Article

Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations.

Published in:

Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0334-3

By:

Khundakar, Ahmad A.;
Hanson, Peter S.;
Erskine, Daniel;
Lax, Nichola Z.;
Roscamp, Joseph;
Karyka, Evangelia;
Tsefou, Eliona;
Singh, Preeti;
Cockell, Simon J.;
Gribben, Andrew;
Ramsay, Lynne;
Blain, Peter G.;
Mosimann, Urs P.;
Lett, Deborah J.;
Elstner, Matthias;
Turnbull, Douglass M.;
Xiang, Charles C.;
Brownstein, Michael J.;
O'Brien, John T.;
Taylor, John-Paul

Publication type:

Article

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis.

Published in:

Brain: A Journal of Neurology, 2002, v. 125, n. 7, p. 1522, doi. 10.1093/brain/awf167

By:

Menzies, Fiona M.;
Cookson, Mark R.;
Taylor, Robert W.;
Turnbull, Douglass M.;
Chrzanowska‐Lightowlers, Zofia M. A.;
Dong, Lichun;
Figlewicz, Denise A.;
Shaw, Pamela J.

Publication type:

Article

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.

Published in:

Annals of Neurology, 2006, v. 59, n. 3, p. 570

By:

Gillian M. Borthwick;
Robert W. Taylor;
Timothy J. Walls;
Kasia Tonska;
Geoffrey A. Taylor;
Pamela J. Shaw;
Paul G. Ince;
Douglass M. Turnbull

Publication type:

Article

Familial myopathy: New insights into the T14709C mitochondrial tRNA mutation.

Published in:

Annals of Neurology, 2004, v. 55, n. 4, p. 478

By:

Robert McFarland;
Andrew M. Schaefer;
Julie L. Gardner;
Stephen Lynn;
Christine M. Hayes;
Martin J. Barron;
Mark Walker;
Patrick F. Chinnery;
Robert W. Taylor;
Douglass M. Turnbull

Publication type:

Article

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

Published in:

Annals of Neurology, 2004, v. 55, n. 1, p. 58

By:

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

Publication type:

Article

Genotypes from patients indicate no paternal mitochondrial DNA contribution.

Published in:

Annals of Neurology, 2003, v. 54, n. 4, p. 521

By:

Robert W. Taylor;
Martina T. McDonnell;
Emma L. Blakely;
Patrick F. Chinnery;
Geoffrey A. Taylor;
Neil Howell;
Massimo Zeviani;
Egill Briem;
Franco Carrara;
Douglass M. Turnbull

Publication type:

Article

Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

Published in:

2001

By:

Taylor, Robert W.;
Singh-Kler, Rajinder;
Hayes, Christine M.;
Smith, Philip E.M.;
Turnbull, Douglass M.;
Taylor, R W;
Singh-Kler, R;
Hayes, C M;
Smith, P E;
Turnbull, D M

Publication type:

journal article

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.

Published in:

Annals of Neurology, 2000, v. 48, n. 3, p. 330, doi. 10.1002/1531-8249(200009)48:3<330::AID-ANA7>3.0.CO;2-A

By:

Birch-Machin, Mark A.;
Taylor, Robert W.;
Cochran, Bruce;
Ackrell, Brian A. C.;
Turnbull, Douglass M.

Publication type:

Article

Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death.

Published in:

1999

By:

Borthwick, Gillian M.;
Johnson, Margaret A.;
Ince, Paul G.;
Shaw, Pamela J.;
Turnbull, Douglass M.;
Borthwick, G M;
Johnson, M A;
Ince, P G;
Shaw, P J;
Turnbull, D M

Publication type:

journal article

Role of mitochondrial DNA mutations in human aging: Implications for the central nervous system and muscle.

Published in:

Annals of Neurology, 1998, v. 43, n. 2, p. 217, doi. 10.1002/ana.410430212

By:

Brierley, Elizabeth J.;
Johnson, Margaret A.;
Lightowlers, Robert N.;
James, Oliver F. W.;
Turnbull, Douglass M.

Publication type:

Article