Works matching AU Douglass M. Turnbull

Results: 90

Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.

Published in:

Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358

By:

Blakely, Emma L.;
Yarham, John W.;
Alston, Charlotte L.;
Craig, Kate;
Poulton, Joanna;
Brierley, Charlotte;
Park, Soo‐Mi;
Dean, Andrew;
Xuereb, John H.;
Anderson, Kirstie N.;
Compston, Alistair;
Allen, Chris;
Sharif, Saba;
Enevoldson, Peter;
Wilson, Martin;
Hammans, Simon R.;
Turnbull, Douglass M.;
McFarland, Robert;
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

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

Might mammalian mitochondria merge?

Published in:

Nature Medicine, 2001, v. 7, n. 8, p. 895, doi. 10.1038/90929

By:

Turnbull, Douglass M.;
Lightowlers, Robert N.

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

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

Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia.

Published in:

PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075048

By:

Yu-Wai-Man, Cynthia;
Smith, Fiona E.;
Firbank, Michael J.;
Guthrie, Grant;
Guthrie, Stuart;
Gorman, Grainne S.;
Taylor, Robert W.;
Turnbull, Douglass M.;
Griffiths, Philip G.;
Blamire, Andrew M.;
Chinnery, Patrick F.;
Yu-Wai-Man, Patrick

Publication type:

Article

Habitual Physical Activity in Mitochondrial Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 7, p. 1, doi. 10.1371/journal.pone.0022294

By:

Apabhai, Shehnaz;
Gorman, Grainne S.;
Sutton, Laura;
Elson, Joanna L.;
Plötz, Thomas;
Turnbull, Douglass M.;
Trenell, Michael I.

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

Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.

Published in:

2002

By:

Choo-Kang, Alan T.W.;
Lynn, Stephen;
Taylor, Geoffrey A.;
Daly, Mark E.;
Sihota, Sarbpreet S.;
Wardell, Teressa M.;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Walker, Mark

Publication type:

journal article

Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families.

Published in:

2000

By:

Jackson, Sandra;
Bagstaff, Stephanie M.;
Lynn, Stephen;
Yeaman, Stephen J.;
Turnbull, Douglass M.;
Walker, Mark;
Jackson, S;
Bagstaff, S M;
Lynn, S;
Yeaman, S J;
Turnbull, D M;
Walker, M

Publication type:

journal article

Mitochondrial Diabetes.

Published in:

Diabetes, 1998, v. 47, n. 11, p. 1800

By:

Lynn, Stephen;
Wardell, Theresa;
Johnson, Margaret A.;
Chinnery, Patrick F.;
Daly, Mark E.;
Walker, Mark;
Turnbull, Douglass M.

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

Impaired mitochondrial function abolishes gamma oscillations in the hippocampus through an effect on fast-spiking interneurons.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 7, p. e180, doi. 10.1093/brain/awr018

By:

Whittaker, Roger G.;
Turnbull, Douglass M.;
Whittington, Miles A.;
Cunningham, Mark O.

Publication type:

Article

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.

Published in:

Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 797, doi. 10.1093/brain/awq015

By:

Abramov, Andrey Y.;
Smulders-Srinivasan, Tora K.;
Kirby, Denise M.;
Acin-Perez, Rebeca;
Enriquez, José Antonio;
Lightowlers, Robert N.;
Duchen, Michael R.;
Turnbull, Douglass M.

Publication type:

Article

Mitochondrial changes within axons in multiple sclerosis.

Published in:

2009

By:

Mahad DJ;
Ziabreva I;
Campbell G;
Lax N;
White K;
Hanson PS;
Lassmann H;
Turnbull DM;
Mahad, Don J;
Ziabreva, Iryna;
Campbell, Graham;
Lax, Nichola;
White, Katherine;
Hanson, Peter S;
Lassmann, Hans;
Turnbull, Douglass M

Publication type:

journal article

Mitochondrial changes within axons in multiple sclerosis.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 5, p. 1161, doi. 10.1093/brain/awp046

By:

Mahad, Don J.;
Ziabreva, Iryna;
Campbell, Graham;
Lax, Nichola;
White, Katherine;
Hanson, Peter S.;
Lassmann, Hans;
Turnbull, Douglass M.

Publication type:

Article

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2832, doi. 10.1093/brain/awn252

By:

Julie L. Murphy;
Emma L. Blakely;
Andrew M. Schaefer;
Langping He;
Phil Wyrick;
Ronald G. Haller;
Robert W. Taylor;
Douglass M. Turnbull;
Tanja Taivassalo

Publication type:

Article

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

Published in:

Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 329, doi. 10.1093/brain/awm272

By:

Gavin Hudson;
Patrizia Amati-Bonneau;
Emma L. Blakely;
Joanna D. Stewart;
Langping He;
Andrew M. Schaefer;
Philip G. Griffiths;
Kati Ahlqvist;
Anu Suomalainen;
Pascal Reynier;
Robert McFarland;
Douglass M. Turnbull;
Patrick F. Chinnery;
Robert W. Taylor

Publication type:

Article

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Published in:

Brain: A Journal of Neurology, 2007, v. 130, n. 8, p. 2045, doi. 10.1093/brain/awm135

By:

Rikke K. J. Olsen;
Simon E. Olpin;
Brage S. Andresen;
Zofia H. Miedzybrodzka;
Morteza Pourfarzam;
Begoña Merinero;
Frank E. Frerman;
Michael W. Beresford;
John C. S. Dean;
Nanna Cornelius;
Oluf Andersen;
Anders Oldfors;
Elisabeth Holme;
Niels Gregersen;
Douglass M. Turnbull;
Andrew A. M. Morris

Publication type:

Article

Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.

Published in:

Brain: A Journal of Neurology, 2006, v. 129, n. 12, p. 3391, doi. 10.1093/brain/awl282

By:

Taivassalo, Tanja;
Gardner, Julie L.;
Taylor, Robert W.;
Schaefer, Andrew M.;
Newman, Jane;
Barron, Martin J.;
Haller, Ronald G.;
Turnbull, Douglass M.

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

Reply.

Published in:

2016

By:

Whittaker, Roger G.;
Gorman, Grainne;
Ng, Yi;
Turnbull, Douglass M.

Publication type:

Letter

Epilepsy in adults with mitochondrial disease: A cohort study.

Published in:

2015

By:

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

Publication type:

journal article

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

Published in:

Annals of Neurology, 2015, v. 77, n. 5, p. 753, doi. 10.1002/ana.24362

By:

Gorman, Gráinne S.;
Schaefer, Andrew M.;
Ng, Yi;
Gomez, Nicholas;
Blakely, Emma L.;
Alston, Charlotte L.;
Feeney, Catherine;
Horvath, Rita;
Yu‐Wai‐Man, Patrick;
Chinnery, Patrick F.;
Taylor, Robert W.;
Turnbull, Douglass M.;
McFarland, Robert

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

Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2012, v. 186, n. 11, p. 1140, doi. 10.1164/rccm.201206-0982OC

By:

Picard, Martin;
Jung, Boris;
Feng Liang;
Azuelos, Ilan;
Hussain, Sabah;
Goldberg, Peter;
Godin, Richard;
Danialou, Gawiyou;
Chaturvedi, Rakesh;
Rygiel, Karolina;
Matecki, Stefan;
Jaber, Samir;
Des Rosiers, Christine;
Karpati, George;
Ferri, Lorenzo;
Burelle, Yah;
Turnbull, Douglass M.;
Taivassalo, Tanja;
Petrof, Basil J.

Publication type:

Article

In-vitro genetic modification of mitochondrial function.

Published in:

Human Reproduction, 2000, v. 15, n. suppl_2, p. 79, doi. 10.1093/humrep/15.suppl_2.79

By:

Taylor, Robert W.;
Chinnery, Patrick F.;
Turnbull, Douglass M.;
Lightowlers, Robert N.

Publication type:

Article

Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease?

Published in:

Human Genetics, 2006, v. 119, n. 3, p. 241, doi. 10.1007/s00439-005-0123-8

By:

Elson, Joanna L.;
Herrnstadt, Corinna;
Preston, Gwen;
Thal, Leon;
Morris, Christopher M.;
Edwardson, J. A.;
Beal, M. Flint;
Turnbull, Douglass M.;
Howell, Neil

Publication type:

Article

Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition.

Published in:

2018

By:

Houghton, David;
Stewart, Christopher J.;
Stamp, Craig;
Nelson, Andrew;
Ajami, Nadim J.;
Petrosino, Joseph F.;
Wipat, Anil;
Trenell, Michael I.;
Turnbull, Douglass M.;
Greaves, Laura C.;
Aj Ami, Nadim J

Publication type:

journal 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

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

Reply.

Published in:

Annals of Neurology, 2010, v. 67, n. 3, p. 412, doi. 10.1002/ana.21967

By:

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

Publication type:

Article

Reply.

Published in:

Annals of Neurology, 2008, v. 64, n. 4, p. 471, doi. 10.1002/ana.21512

By:

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

Publication type:

Article

Prevalence of mitochondrial DNA disease in adults.

Published in:

Annals of Neurology, 2008, v. 63, n. 1, p. 35, doi. 10.1002/ana.21217

By:

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

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