Douglass M Turnbull

Douglass M Turnbull

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Douglass M Turnbull

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Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.

Authors:
Mauro Santibanez-Koref Helen Griffin Douglass M Turnbull Patrick F Chinnery Mary Herbert Gavin Hudson

Mitochondrion 2019 05 9;46:302-306. Epub 2018 Aug 9.

Institute of Genetic Medicine, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; The Wellcome Centre for Mitochondrial Research, Newcastle University, Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mito.2018.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509278PMC
May 2019

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

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

J Gerontol A Biol Sci Med Sci 2018 04;73(5):571-578

Wellcome Trust Centre for Mitochondrial Research, Institute for Cell and Molecular Biosciences and Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne.

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http://dx.doi.org/10.1093/gerona/glx197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5905657PMC
April 2018

Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia.

Authors:
Ewen W Sommerville Rachel L Jones Steven A Hardy Emma L Blakely Angela Pyle Andrew M Schaefer Patrick F Chinnery Douglass M Turnbull Gráinne S Gorman Robert W Taylor

Neurol Genet 2017 Dec 15;3(6):e202. Epub 2017 Dec 15.

Wellcome Centre for Mitochondrial Research (E.W.S., R.L.J., S.A.H., E.L.B., A.M.S., D.M.T., G.S.G., R.W.T.), Institute of Neuroscience, The Medical School, Newcastle University, United Kingdom; Department of Molecular and Human Genetics (E.W.S.), Baylor College of Medicine, Houston, TX; NHS Highly Specialised Mitochondrial Diagnostic Laboratory (R.L.J., S.A.H., E.L.B., R.W.T.), Newcastle upon Tyne Hospitals NHS Foundation Trust, United Kingdom; Wellcome Centre for Mitochondrial Research (A.P.), Institute of Genetic Medicine, Newcastle University, United Kingdom; and Department of Clinical Neurosciences (P.F.C.), School of Clinical Medicine, and MRC Mitochondrial Biology Unit (P.F.C.), University of Cambridge, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732003PMC
December 2017

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

Authors:
Ewen W Sommerville Yi Shiau Ng Charlotte L Alston Cristina Dallabona Micol Gilberti Langping He Charlotte Knowles Sophie L Chin Andrew M Schaefer Gavin Falkous David Murdoch Cheryl Longman Marianne de Visser Laurence A Bindoff John M Rawles John C S Dean Richard K Petty Maria E Farrugia Tobias B Haack Holger Prokisch Robert McFarland Douglass M Turnbull Claudia Donnini Robert W Taylor Gráinne S Gorman

JAMA Neurol 2017 06;74(6):686-694

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/jamaneurol.2016.4357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5822212PMC
June 2017

Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells.

Authors:
Hua Lin Shaan Patel Valerie S Affleck Ian Wilson Douglass M Turnbull Abhijit R Joshi Ross Maxwell Elizabeth A Stoll

Neuro Oncol 2017 01 29;19(1):43-54. Epub 2016 Jun 29.

M.Sc. Programme in Medical Sciences, Newcastle University, Newcastle upon Tyne, UK (H.L., V.S.A.); Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK (H.L., V.S.A.); B.Sc. Programme in Physiology, Newcastle University, Newcastle upon Tyne, UK (S.P.); Northern Institute for Cancer Research, Newcastle University, Newcastle upon Tyne, UK (I.W., R.M.); Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK (D.M.T., E.A.S.); Centre for Brain Ageing and Vitality, Newcastle University, Newcastle upon Tyne, UK (D.M.T.); Wellcome Trust Centre for Mitochondrial Research, Institute of Ageing and Health, Newcastle University, Newcastle upon Tyne, UK (D.M.T.); Department of Cellular Pathology, Royal Victoria Infirmary, Newcastle upon Tyne, UK (A.R.J.)

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http://dx.doi.org/10.1093/neuonc/now128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193020PMC
January 2017

Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age.

Authors:
Elizabeth A Stoll Nevena Karapavlovic Hannah Rosa Michael Woodmass Karolina Rygiel Kathryn White Douglass M Turnbull Chris G Faulkes

Aging (Albany NY) 2016 12;8(12):3468-3485

School of Biological & Chemical Sciences, Queen Mary University of London, London, E1 4NS, UK.

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http://dx.doi.org/10.18632/aging.101140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5270680PMC
December 2016

Mitochondrial diseases.

Authors:
Gráinne S Gorman Patrick F Chinnery Salvatore DiMauro Michio Hirano Yasutoshi Koga Robert McFarland Anu Suomalainen David R Thorburn Massimo Zeviani Douglass M Turnbull

Nat Rev Dis Primers 2016 10 20;2:16080. Epub 2016 Oct 20.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1038/nrdp.2016.80DOI Listing
October 2016

Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

Authors:
Louise A Hyslop Paul Blakeley Lyndsey Craven Jessica Richardson Norah M E Fogarty Elpida Fragouli Mahdi Lamb Sissy E Wamaitha Nilendran Prathalingam Qi Zhang Hannah O'Keefe Yuko Takeda Lucia Arizzi Samer Alfarawati Helen A Tuppen Laura Irving Dimitrios Kalleas Meenakshi Choudhary Dagan Wells Alison P Murdoch Douglass M Turnbull Kathy K Niakan Mary Herbert

Nature 2016 10 27;538(7626):542. Epub 2016 Jul 27.

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http://dx.doi.org/10.1038/nature19105DOI Listing
October 2016

Genetic and biochemical intricacy shapes mitochondrial cytopathies.

Authors:
Douglass M Turnbull Pierre Rustin

Neurobiol Dis 2016 08 12;92(Pt A):55-63. Epub 2015 Feb 12.

INSERM UMR 1141, Hôpital Robert Debré, Paris, France; Université Paris 7, Faculté de Médecine Denis Diderot, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.02.003DOI Listing
August 2016

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

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

Eur Heart J 2016 Aug 17;37(32):2552-9. Epub 2015 Jul 17.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK

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http://dx.doi.org/10.1093/eurheartj/ehv306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5008417PMC
August 2016

Reply.

Authors:
Roger G Whittaker Grainne Gorman Yi Ng Douglass M Turnbull

Ann Neurol 2016 08 25;80(2):314. Epub 2016 Jul 25.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24722DOI Listing
August 2016

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease.

Authors:
Louise A Hyslop Paul Blakeley Lyndsey Craven Jessica Richardson Norah M E Fogarty Elpida Fragouli Mahdi Lamb Sissy E Wamaitha Nilendran Prathalingam Qi Zhang Hannah O'Keefe Yuko Takeda Lucia Arizzi Samer Alfarawati Helen A Tuppen Laura Irving Dimitrios Kalleas Meenakshi Choudhary Dagan Wells Alison P Murdoch Douglass M Turnbull Kathy K Niakan Mary Herbert

Nature 2016 06 8;534(7607):383-6. Epub 2016 Jun 8.

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Biomedicine West Wing, Centre for Life, Times Square, Newcastle upon Tyne NE1 3BZ, UK.

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http://dx.doi.org/10.1038/nature18303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5131843PMC
June 2016

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

Authors:
Ahmad A Khundakar Peter S Hanson Daniel Erskine Nichola Z Lax Joseph Roscamp Evangelia Karyka Eliona Tsefou Preeti Singh Simon J Cockell Andrew Gribben Lynne Ramsay Peter G Blain Urs P Mosimann Deborah J Lett Matthias Elstner Douglass M Turnbull Charles C Xiang Michael J Brownstein John T O'Brien John-Paul Taylor Johannes Attems Alan J Thomas Ian G McKeith Christopher M Morris

Acta Neuropathol Commun 2016 06 30;4(1):66. Epub 2016 Jun 30.

Edwardson Building, Institute of Neuroscience, Newcastle University, Campus for Ageing and Vitality, Westgate Road, Newcastle upon Tyne, NE4 5PL, UK.

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http://dx.doi.org/10.1186/s40478-016-0334-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4928325PMC
June 2016

Neuronal oscillations: A physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?

Authors:
Felix Chan Nichola Z Lax Ceri H Davies Douglass M Turnbull Mark O Cunningham

Neuropharmacology 2016 Mar 28;102:48-58. Epub 2015 Oct 28.

Institute of Neuroscience, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neuropharm.2015.10.033DOI Listing
March 2016

Epilepsy in adults with mitochondrial disease: A cohort study.

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

Ann Neurol 2015 Dec 17;78(6):949-57. Epub 2015 Nov 17.

Wellcome Trust Center for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24525DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737309PMC
December 2015

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

Authors:
Elizabeth A Stoll Rebecca Makin Ian R Sweet Andrew J Trevelyan Satomi Miwa Philip J Horner Douglass M Turnbull

Stem Cells 2015 Jul 4;33(7):2306-19. Epub 2015 Jun 4.

Centre for Brain Ageing and Vitality, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://depts.washington.edu/iscrm/sites/default/files/StemCe
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http://doi.wiley.com/10.1002/stem.2042
Publisher Site
http://dx.doi.org/10.1002/stem.2042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478223PMC
July 2015

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease.

Authors:
Gráinne S Gorman Joanna L Elson Jane Newman Brendan Payne Robert McFarland Julia L Newton Douglass M Turnbull

Neuromuscul Disord 2015 Jul 23;25(7):563-6. Epub 2015 Apr 23.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; Institute of Ageing and Health and NIHR Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne NE4 5PL, UK.

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http://dx.doi.org/10.1016/j.nmd.2015.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502433PMC
July 2015

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.

Authors:
Jane Newman Brook Galna Djordje G Jakovljevic Matthew G Bates Andrew M Schaefer Robert McFarland Douglass M Turnbull Michael I Trenell Robert W Taylor Lynn Rochester Gráinne S Gorman

J Neuromuscul Dis 2015 Jun;2(2):151-155

Wellcome Trust Centre for Mitochondrial Research Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.3233/JND-140061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271457PMC
June 2015

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

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

Ann Neurol 2015 May 28;77(5):753-9. Epub 2015 Mar 28.

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; Institute of Neuroscience, Henry Wellcome Building for Neuroecology, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1002/ana.24362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4737121PMC
May 2015

Concise reviews: Assisted reproductive technologies to prevent transmission of mitochondrial DNA disease.

Authors:
Jessica Richardson Laura Irving Louise A Hyslop Meenakshi Choudhary Alison Murdoch Douglass M Turnbull Mary Herbert

Stem Cells 2015 Mar;33(3):639-45

Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, United Kingdom; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://doi.wiley.com/10.1002/stem.1887
Publisher Site
http://dx.doi.org/10.1002/stem.1887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359624PMC
March 2015

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

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

JAMA Neurol 2015 Jan;72(1):106-11

Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, England2Institute for Ageing and Health, National Institute for Health Research Biomedical Research Centre for Ageing, Newcastle University, Newcastle upon Tyne, Englan.

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http://dx.doi.org/10.1001/jamaneurol.2014.1753DOI Listing
January 2015

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.

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

PLoS Genet 2014 Sep 18;10(9):e1004620. Epub 2014 Sep 18.

Newcastle University Centre for Brain Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom; Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1004620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169240PMC
September 2014

Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.

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

PLoS One 2013 27;8(9):e75048. Epub 2013 Sep 27.

Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075048PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785524PMC
August 2014

Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans.

Authors:
Holly L Baines James B Stewart Craig Stamp Anze Zupanic Thomas B L Kirkwood Nils-Göran Larsson Douglass M Turnbull Laura C Greaves

Mech Ageing Dev 2014 Jul 7;139:22-30. Epub 2014 Jun 7.

Centre for Brain Ageing and Vitality, Institute for Ageing and Health, The Medical School, Newcastle upon Tyne NE2 4HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mad.2014.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4141908PMC
July 2014

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Authors:
Robert W Taylor Angela Pyle Helen Griffin Emma L Blakely Jennifer Duff Langping He Tania Smertenko Charlotte L Alston Vivienne C Neeve Andrew Best John W Yarham Janbernd Kirschner Ulrike Schara Beril Talim Haluk Topaloglu Ivo Baric Elke Holinski-Feder Angela Abicht Birgit Czermin Stephanie Kleinle Andrew A M Morris Grace Vassallo Grainne S Gorman Venkateswaran Ramesh Douglass M Turnbull Mauro Santibanez-Koref Robert McFarland Rita Horvath Patrick F Chinnery

JAMA 2014 Jul;312(1):68-77

Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England.

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http://dx.doi.org/10.1001/jama.2014.7184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558267PMC
July 2014

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.

Authors:
Emma L Blakely Charlotte L Alston Bryan Lecky Biswajit Chakrabarti Gavin Falkous Douglass M Turnbull Robert W Taylor Grainne S Gorman

Neuromuscul Disord 2014 Jun 1;24(6):533-6. Epub 2014 Apr 1.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 2HH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4047625PMC
June 2014

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

Authors:
Gerald Pfeffer Gráinne S Gorman Helen Griffin Marzena Kurzawa-Akanbi Emma L Blakely Ian Wilson Kamil Sitarz David Moore Julie L Murphy Charlotte L Alston Angela Pyle Jon Coxhead Brendan Payne George H Gorrie Cheryl Longman Marios Hadjivassiliou John McConville David Dick Ibrahim Imam David Hilton Fiona Norwood Mark R Baker Stephan R Jaiser Patrick Yu-Wai-Man Michael Farrell Allan McCarthy Timothy Lynch Robert McFarland Andrew M Schaefer Douglass M Turnbull Rita Horvath Robert W Taylor Patrick F Chinnery

Brain 2014 May 10;137(Pt 5):1323-36. Epub 2014 Apr 10.

1 Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
Publisher Site
http://dx.doi.org/10.1093/brain/awu060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999722PMC
May 2014

Human stem cell aging: do mitochondrial DNA mutations have a causal role?

Authors:
Holly L Baines Douglass M Turnbull Laura C Greaves

Aging Cell 2014 Apr 28;13(2):201-5. Epub 2014 Jan 28.

Centre for Brain Ageing and Vitality, Institute for Ageing and Health, The Medical School, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1111/acel.12199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331785PMC
April 2014

The challenges of mitochondrial replacement.

Authors:
Patrick F Chinnery Lyndsey Craven Shoukhrat Mitalipov James B Stewart Mary Herbert Douglass M Turnbull

PLoS Genet 2014 Apr 24;10(4):e1004315. Epub 2014 Apr 24.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1004315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3998882PMC
April 2014

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences.

Authors:
Brook Galna Jane Newman Djordje G Jakovljevic Matthew G Bates Andrew M Schaefer Robert McFarland Douglass M Turnbull Michael I Trenell Gráinne S Gorman Lynn Rochester

J Neurol 2014 Jan 23;261(1):73-82. Epub 2013 Oct 23.

Clinical Ageing Research Unit, Campus for Ageing and Vitality, Institute for Ageing and Health, Newcastle University, Newcastle Upon Tyne, UK,

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http://dx.doi.org/10.1007/s00415-013-7129-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895207PMC
January 2014

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

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

Sci Rep 2014 Jan 24;4:3844. Epub 2014 Jan 24.

1] Wellcome Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK [2] Newcastle Fertility Centre, Centre for Life, Times Square, Newcastle upon Tyne, UK.

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http://www.nature.com/articles/srep03844
Publisher Site
http://dx.doi.org/10.1038/srep03844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5379195PMC
January 2014

Mitochondrial abnormality associates with type-specific neuronal loss and cell morphology changes in the pedunculopontine nucleus in Parkinson disease.

Authors:
Ilse S Pienaar Joanna L Elson Claudia Racca Glyn Nelson Douglass M Turnbull Christopher M Morris

Am J Pathol 2013 Dec 4;183(6):1826-1840. Epub 2013 Oct 4.

Institute of Neuroscience, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom; Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, United Kingdom; Medical Toxicology Centre, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.ajpath.2013.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188170PMC
December 2013

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

Authors:
Charlotte L Alston Andrew M Schaefer Pravrutha Raman Nicola Solaroli Kim J Krishnan Emma L Blakely Langping He Kate Craig Mark Roberts Aashish Vyas John Nixon Rita Horvath Douglass M Turnbull Anna Karlsson Grainne S Gorman Robert W Taylor

Neurology 2013 Dec 6;81(23):2051-3. Epub 2013 Nov 6.

From Newcastle University (C.L.A., A.M.S., P.R., K.J.K., E.L.B., L.H., K.C., R.H., D.M.T., G.S.G., R.W.T.), Newcastle upon Tyne, UK; Karolinska Institute (N.S., A.K.), Stockholm, Sweden; Hope Hospital (M.R.), Salford; and Royal Preston Hospital (A.V., J.N.), Preston, UK.

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http://dx.doi.org/10.1212/01.wnl.0000436931.94291.e6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3854830PMC
December 2013

Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle.

Authors:
Martin Picard Benoit J Gentil Meagan J McManus Kathryn White Kyle St Louis Sarah E Gartside Douglas C Wallace Douglass M Turnbull

J Appl Physiol (1985) 2013 Nov 22;115(10):1562-71. Epub 2013 Aug 22.

Mitochondrial Research Group, Institute for Ageing and Health, University of Newcastle, Newcastle upon Tyne, United Kingdom;

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http://dx.doi.org/10.1152/japplphysiol.00819.2013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3841825PMC
November 2013

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.

Authors:
Matthew G D Bates Jane H Newman Djordje G Jakovljevic Kieren G Hollingsworth Charlotte L Alston Pawel Zalewski Jacek J Klawe Andrew M Blamire Guy A MacGowan Bernard D Keavney John P Bourke Andrew Schaefer Robert McFarland Julia L Newton Douglass M Turnbull Robert W Taylor Michael I Trenell Gráinne S Gorman

Int J Cardiol 2013 Oct 3;168(4):3599-608. Epub 2013 Jun 3.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK; Cardiothoracic Centre, Freeman Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2013.05.062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819621PMC
October 2013

Endocrine disorders in mitochondrial disease.

Authors:
Andrew M Schaefer Mark Walker Douglass M Turnbull Robert W Taylor

Mol Cell Endocrinol 2013 Oct 13;379(1-2):2-11. Epub 2013 Jun 13.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2013.06.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820028PMC
October 2013

Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.

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

Hum Mutat 2013 Sep;34(9):1260-8

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884772PMC
September 2013

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

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

Eur Heart J Cardiovasc Imaging 2013 Jul 4;14(7):650-8. Epub 2012 Nov 4.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681541PMC
July 2013

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

Authors:
Roger G Whittaker Elizabeth Hall Muhammad K Mansoor Robert W Taylor Douglass M Turnbull

J Peripher Nerv Syst 2013 Mar;18(1):59-61

Department of Clinical Neurophysiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.

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http://dx.doi.org/10.1111/jns5.12009DOI Listing
March 2013

The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

Authors:
John W Yarham Emma L Blakely Charlotte L Alston Mark E Roberts John Ealing Piyali Pal Douglass M Turnbull Robert McFarland Robert W Taylor

J Neurol Sci 2013 Feb 27;325(1-2):165-9. Epub 2012 Dec 27.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.jns.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560033PMC
February 2013

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Authors:
Nichola Z Lax Sharmilee Gnanapavan Sarah J Dowson Charlotte L Alston Langping He Tuomo M Polvikoski Evelyn Jaros Dominic G O'Donovan John W Yarham Douglass M Turnbull Andrew F Dean Robert W Taylor

J Neuropathol Exp Neurol 2013 Feb;72(2):164-75

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1097/NEN.0b013e31828129c5DOI Listing
February 2013

Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study.

Authors:
Martin Picard Kathryn White Douglass M Turnbull

J Appl Physiol (1985) 2013 Jan 25;114(2):161-71. Epub 2012 Oct 25.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1152/japplphysiol.01096.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3544498PMC
January 2013

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

Authors:
Matthew G D Bates John P Bourke Carla Giordano Giulia d'Amati Douglass M Turnbull Robert W Taylor

Eur Heart J 2012 Dec 30;33(24):3023-33. Epub 2012 Aug 30.

Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1093/eurheartj/ehs275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530901PMC
December 2012

Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation.

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

Am J Respir Crit Care Med 2012 Dec 28;186(11):1140-9. Epub 2012 Sep 28.

Meakins-Christie Laboratories, 3626 Saint Urbain Street, Montreal, PQ, H2X 2P2 Canada.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.201206-0982O
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December 2012

Diagnostic investigations of patients with chronic progressive external ophthalmoplegia.

Authors:
Patrick Yu-Wai-Man Grainne S Gorman Robert W Taylor Douglass M Turnbull

Br J Ophthalmol 2012 Dec 28;96(12):1536. Epub 2012 Sep 28.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302566DOI Listing
December 2012

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

Authors:
Robert D S Pitceathly Conrad Smith Carl Fratter Charlotte L Alston Langping He Kate Craig Emma L Blakely Julie C Evans John Taylor Zarfishan Shabbir Marcus Deschauer Ute Pohl Mark E Roberts Matthew C Jackson Christopher A Halfpenny Peter D Turnpenny Peter W Lunt Michael G Hanna Andrew M Schaefer Robert McFarland Rita Horvath Patrick F Chinnery Douglass M Turnbull Joanna Poulton Robert W Taylor Gráinne S Gorman

Brain 2012 Nov 29;135(Pt 11):3392-403. Epub 2012 Oct 29.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/aws231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501970PMC
November 2012

Transcriptome analysis in mitochondrial disorders.

Authors:
Matthias Elstner Douglass M Turnbull

Brain Res Bull 2012 Jul 3;88(4):285-93. Epub 2011 Aug 3.

Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1016/j.brainresbull.2011.07.018DOI Listing
July 2012

Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.

Authors:
Kieren G Hollingsworth Grainne S Gorman Michael I Trenell Robert McFarland Robert W Taylor Douglass M Turnbull Guy A MacGowan Andrew M Blamire Patrick F Chinnery

Neuromuscul Disord 2012 Jul 17;22(7):592-6. Epub 2012 Apr 17.

Newcastle Magnetic Resonance Centre, Institute of Cellular Medicine, Newcastle University, Campus for Ageing and Vitality, NE4 5PL, UK.

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http://dx.doi.org/10.1016/j.nmd.2012.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387369PMC
July 2012

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

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

Eur J Hum Genet 2012 Jun 18;20(6):650-6. Epub 2012 Jan 18.

Centre for Human Metabonomics, North-West University, Potchefstroom, South Africa.

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http://www.nature.com/articles/ejhg2011262
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http://dx.doi.org/10.1038/ejhg.2011.262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3355259PMC
June 2012

Differences in the accumulation of mitochondrial defects with age in mice and humans.

Authors:
Laura C Greaves Martin J Barron George Campbell-Shiel Thomas B L Kirkwood Douglass M Turnbull

Mech Ageing Dev 2011 Nov-Dec;132(11-12):588-91. Epub 2011 Oct 12.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.mad.2011.10.004DOI Listing
April 2012

Treatment for mitochondrial disorders.

Authors:
Gerald Pfeffer Kari Majamaa Douglass M Turnbull David Thorburn Patrick F Chinnery

Cochrane Database Syst Rev 2012 Apr 18(4):CD004426. Epub 2012 Apr 18.

Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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April 2012

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.

Authors:
Kate Craig Matthew J Young Emma L Blakely Matthew J Longley Douglass M Turnbull William C Copeland Robert W Taylor

Mitochondrion 2012 Mar 4;12(2):313-9. Epub 2011 Dec 4.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.mito.2011.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3824628PMC
March 2012

Maternally inherited mitochondrial DNA disease in consanguineous families.

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

Eur J Hum Genet 2011 Dec 29;19(12):1226-9. Epub 2011 Jun 29.

Mitochondrial Research Group and NCG Mitochondrial Laboratory, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3230363PMC
December 2011

Habitual physical activity in mitochondrial disease.

Authors:
Shehnaz Apabhai Grainne S Gorman Laura Sutton Joanna L Elson Thomas Plötz Douglass M Turnbull Michael I Trenell

PLoS One 2011 22;6(7):e22294. Epub 2011 Jul 22.

Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3142121PMC
December 2011

Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions.

Authors:
Matthias Elstner Sarina K Müller Lars Leidolt Christoph Laub Lena Krieg Falk Schlaudraff Birgit Liss Chris Morris Douglass M Turnbull Eliezer Masliah Holger Prokisch Thomas Klopstock Andreas Bender

Mol Brain 2011 Dec 21;4:43. Epub 2011 Dec 21.

Department of Neurology with Friedrich-Baur-Institute, Ludwig-Maximilians-University, 81377 Munich, Germany.

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http://molecularbrain.biomedcentral.com/articles/10.1186/175
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278372PMC
December 2011

In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells.

Authors:
John K Blackwood Stuart C Williamson Laura C Greaves Laura Wilson Anastasia C Rigas Raveen Sandher Robert S Pickard Craig N Robson Douglass M Turnbull Robert W Taylor Rakesh Heer

J Pathol 2011 Oct;225(2):181-8

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1002/path.2965DOI Listing
October 2011

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

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

Eur J Hum Genet 2011 Jul 2;19(7):769-75. Epub 2011 Mar 2.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1038/ejhg.2011.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137493PMC
July 2011

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

Authors:
Roger G Whittaker Douglass M Turnbull Miles A Whittington Mark O Cunningham

Brain 2011 Jul 4;134(Pt 7):e180; author reply e181. Epub 2011 Mar 4.

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http://dx.doi.org/10.1093/brain/awr018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708717PMC
July 2011

Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death.

Authors:
Matthias Elstner Christopher M Morris Katharina Heim Andreas Bender Divya Mehta Evelyn Jaros Thomas Klopstock Thomas Meitinger Douglass M Turnbull Holger Prokisch

Acta Neuropathol 2011 Jul 4;122(1):75-86. Epub 2011 May 4.

Department of Neurology with Friedrich-Baur-Institute, Klinikum Großhadern, Ludwig-Maximilians-University, Marchioninistr. 15, 81377 Munich, Germany.

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http://dx.doi.org/10.1007/s00401-011-0828-9DOI Listing
July 2011

Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration.

Authors:
Dafni Vlachantoni Alexa N Bramall Michael P Murphy Robert W Taylor Xinhua Shu Brian Tulloch Theo Van Veen Douglass M Turnbull Roderick R McInnes Alan F Wright

Hum Mol Genet 2011 Jan 3;20(2):322-35. Epub 2010 Nov 3.

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK.

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January 2011

A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.

Authors:
Charlotte L Alston James Lowe Douglass M Turnbull Paul Maddison Robert W Taylor

J Neurol Sci 2010 Nov;298(1-2):140-4

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.jns.2010.08.014DOI Listing
November 2010

Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity.

Authors:
Tim M Young Emma L Blakely Helen Swalwell Janet E Carter Luke D Kartsounis Dominic G O'Donovan Douglass M Turnbull Robert W Taylor Rajith N de Silva

Arch Neurol 2010 Nov;67(11):1399-402

Essex Centre for Neurological Sciences, Queen's Hospital, Romford RM7 0AG, United Kingdom.

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http://dx.doi.org/10.1001/archneurol.2010.283DOI Listing
November 2010

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Authors:
Helen A L Tuppen Janev Fehmi Birgit Czermin Paola Goffrini Francesca Meloni Iliana Ferrero Langping He Emma L Blakely Robert McFarland Rita Horvath Douglass M Turnbull Robert W Taylor

Mol Genet Metab 2010 Aug 24;100(4):345-8. Epub 2010 Apr 24.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

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August 2010

A neurological perspective on mitochondrial disease.

Authors:
Robert McFarland Robert W Taylor Douglass M Turnbull

Lancet Neurol 2010 Aug;9(8):829-40

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/S1474-4422(10)70116-2DOI Listing
August 2010

Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.

Authors:
Patrick Yu-Wai-Man Joey Lai-Cheong Gillian M Borthwick Langping He Geoffrey A Taylor Laura C Greaves Robert W Taylor Philip G Griffiths Douglass M Turnbull

Invest Ophthalmol Vis Sci 2010 Jul 17;51(7):3347-53. Epub 2010 Feb 17.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

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http://dx.doi.org/10.1167/iovs.09-4660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904001PMC
July 2010

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

Authors:
Laura C Greaves Patrick Yu-Wai-Man Emma L Blakely Kim J Krishnan Nina E Beadle Jamie Kerin Martin J Barron Philip G Griffiths Alison J Dickinson Douglass M Turnbull Robert W Taylor

Invest Ophthalmol Vis Sci 2010 Jul 17;51(7):3340-6. Epub 2010 Feb 17.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle University, Newcastle-upon-Tyne, United Kingdom.

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http://dx.doi.org/10.1167/iovs.09-4659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904000PMC
July 2010

Detection of mitochondrial DNA variation in human cells.

Authors:
Kim J Krishnan John K Blackwood Amy K Reeve Douglass M Turnbull Robert W Taylor

Methods Mol Biol 2010 ;628:227-57

Mitochondrial Research Group, Newcastle University, Newcastle upon Tyne, Tyne and Wear, UK.

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http://dx.doi.org/10.1007/978-1-60327-367-1_13DOI Listing
May 2010

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.

Authors:
Lyndsey Craven Helen A Tuppen Gareth D Greggains Stephen J Harbottle Julie L Murphy Lynsey M Cree Alison P Murdoch Patrick F Chinnery Robert W Taylor Robert N Lightowlers Mary Herbert Douglass M Turnbull

Nature 2010 May 14;465(7294):82-5. Epub 2010 Apr 14.

Mitochondrial Research Group, Institute for Ageing and Health, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1038/nature08958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2875160PMC
May 2010

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.

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

Brain 2010 Mar 15;133(Pt 3):797-807. Epub 2010 Feb 15.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awq015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2842515PMC
March 2010

The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.

Authors:
John K Blackwood Roger G Whittaker Emma L Blakely Charlotte L Alston Douglass M Turnbull Robert W Taylor

Biochem Biophys Res Commun 2010 Mar 18;393(4):740-5. Epub 2010 Feb 18.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.bbrc.2010.02.072DOI Listing
March 2010

Mitochondrial DNA mutations and human disease.

Authors:
Helen A L Tuppen Emma L Blakely Douglass M Turnbull Robert W Taylor

Biochim Biophys Acta 2010 Feb 15;1797(2):113-28. Epub 2009 Sep 15.

Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne NE24HH, UK.

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February 2010

Neuromuscular disease presentation with three genetic defects involving two genomes.

Authors:
Mazhor Al-Dosary Roger G Whittaker Joanna Haughton Robert McFarland Judith Goodship Douglass M Turnbull Robert W Taylor

Neuromuscul Disord 2009 Dec 22;19(12):841-4. Epub 2009 Oct 22.

Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.nmd.2009.10.001DOI Listing
December 2009

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

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

Ann Neurol 2009 Dec;66(6):792-8

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.

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http://dx.doi.org/10.1002/ana.21780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4034432PMC
December 2009

Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.

Authors:
Killian O'Rourke Mark R Buddles Michael Farrell Rachel Howley Sunita Sukuraman Sean Connolly Douglass M Turnbull Michael Hutchinson Robert W Taylor

Muscle Nerve 2009 Oct;40(4):648-51

Department of Neurology, St. Vincent's University Hospital, Dublin 4, Ireland.

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http://dx.doi.org/10.1002/mus.21342DOI Listing
October 2009

Searching for the needle in the Haystacks.

Authors:
Olumide Ogundare Odai Jumma Douglass M Turnbull Alexander Woywodt

Lancet 2009 Sep;374(9692):850

Renal Unit, Lancashire Teaching Hospitals NHS Foundation Trust, Preston, UK.

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http://dx.doi.org/10.1016/S0140-6736(09)61032-1DOI Listing
September 2009

Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: link to colon cancer?

Authors:
Laura C Greaves John C Mathers Robert W Taylor Douglass M Turnbull

Proc Natl Acad Sci U S A 2009 Jun 15;106(22):E57. Epub 2009 May 15.

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http://dx.doi.org/10.1073/pnas.0903000106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2690018PMC
June 2009

Do organellar genomes function as long-term redox damage sensors?

Authors:
Alan F Wright Michael P Murphy Douglass M Turnbull

Trends Genet 2009 Jun 27;25(6):253-61. Epub 2009 May 27.

Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh EH4 2XU, UK.

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http://dx.doi.org/10.1016/j.tig.2009.04.006DOI Listing
June 2009

Mitochondrial changes within axons in multiple sclerosis.

Authors:
Don J Mahad Iryna Ziabreva Graham Campbell Nichola Lax Katherine White Peter S Hanson Hans Lassmann Douglass M Turnbull

Brain 2009 May 17;132(Pt 5):1161-74. Epub 2009 Mar 17.

Mitochondrial Research Group, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1093/brain/awp046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605917PMC
May 2009

Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations.

Authors:
Lydia Gutierrez-Gonzalez Maesha Deheragoda George Elia Simon J Leedham Arjun Shankar Charles Imber Janusz A Jankowski Douglass M Turnbull Marco Novelli Nicholas A Wright Stuart A C McDonald

J Pathol 2009 Mar;217(4):489-96

Histopathology Unit, London Research Institute, Cancer Research UK, London, UK.

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http://dx.doi.org/10.1002/path.2502DOI Listing
March 2009

A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

Authors:
Emma L Blakely S Anand Trip Helen Swalwell Langping He Damian R Wren Philip Rich Douglass M Turnbull Salah E Omer Robert W Taylor

Arch Neurol 2009 Mar;66(3):399-402

The Medical School, Newcastle University, Newcastle upon Tyne, Enlgand.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneurol.2008.576DOI Listing
March 2009

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

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

Brain 2008 Nov;131(Pt 11):2832-40

Mitochondrial Research Group, Newcastle University, Framlington Place, Newcastle upon Tyne, UK.

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http://brain.oxfordjournals.org/content/brain/131/11/2832.fu
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November 2008

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

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

Eur J Hum Genet 2008 Oct 9;16(10):1265-74. Epub 2008 Apr 9.

Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://www.nature.com/articles/ejhg200865
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http://dx.doi.org/10.1038/ejhg.2008.65DOI Listing
October 2008

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.

Authors:
Emma Blakely Langping He Julie L Gardner Gavin Hudson John Walter Imelda Hughes Douglass M Turnbull Robert W Taylor

Neuromuscul Disord 2008 Jul 27;18(7):557-60. Epub 2008 May 27.

Mitochondrial Research Group, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.nmd.2008.04.014DOI Listing
July 2008

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

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

Nucleic Acids Res 2008 May 8;36(9):3065-74. Epub 2008 Apr 8.

Mitochondrial Research Group, Institute of Neuroscience, Medical School, University of Newcastle upon Tyne, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkn147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2396425PMC
May 2008

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

Authors:
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

Brain 2008 Feb 7;131(Pt 2):329-37. Epub 2007 Dec 7.

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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https://academic.oup.com/brain/article-lookup/doi/10.1093/br
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http://dx.doi.org/10.1093/brain/awm272DOI Listing
February 2008

Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells.

Authors:
Stuart A C McDonald Laura C Greaves Lydia Gutierrez-Gonzalez Manuel Rodriguez-Justo Maesha Deheragoda Simon J Leedham Robert W Taylor Chung Yin Lee Sean L Preston Matthew Lovell Toby Hunt George Elia Dahmane Oukrif Rebecca Harrison Marco R Novelli Ian Mitchell David L Stoker Douglass M Turnbull Janusz A Z Jankowski Nicholas A Wright

Gastroenterology 2008 Feb 28;134(2):500-10. Epub 2007 Nov 28.

Histopathology Unit, London Research Institute, Cancer Research UK, London, United Kingdom.

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http://linkinghub.elsevier.com/retrieve/pii/S001650850702112
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http://dx.doi.org/10.1053/j.gastro.2007.11.035DOI Listing
February 2008

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.

Authors:
Robert McFarland Helen Swalwell Emma L Blakely Langping He Emma J Groen Douglass M Turnbull Kate M Bushby Robert W Taylor

Neuromuscul Disord 2008 Jan 6;18(1):63-7. Epub 2007 Sep 6.

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S09608966070068
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http://dx.doi.org/10.1016/j.nmd.2007.07.007DOI Listing
January 2008

Prevalence of mitochondrial DNA disease in adults.

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

Ann Neurol 2008 Jan;63(1):35-9

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, United Kingdom.

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http://doi.wiley.com/10.1002/ana.21217
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http://dx.doi.org/10.1002/ana.21217DOI Listing
January 2008

Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?

Authors:
Audrey E Brown Matthias Elstner Stephen J Yeaman Douglass M Turnbull Mark Walker

Am J Physiol Endocrinol Metab 2008 Jan 23;294(1):E97-102. Epub 2007 Oct 23.

School of Clinical Medical Sciences, Univ. of Newcastle Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1152/ajpendo.00267.2007DOI Listing
January 2008

Nature of mitochondrial DNA deletions in substantia nigra neurons.

Authors:
Amy K Reeve Kim J Krishnan Joanna L Elson Christopher M Morris Andreas Bender Robert N Lightowlers Douglass M Turnbull

Am J Hum Genet 2008 Jan;82(1):228-35

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.ajhg.2007.09.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253975PMC
January 2008

A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells.

Authors:
Kim J Krishnan Andreas Bender Robert W Taylor Douglass M Turnbull

Anal Biochem 2007 Nov 21;370(1):127-9. Epub 2007 Jun 21.

Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.

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http://dx.doi.org/10.1016/j.ab.2007.06.024DOI Listing
November 2007

Relative rates of evolution in the coding and control regions of African mtDNAs.

Authors:
Neil Howell Joanna L Elson Corinna Howell Douglass M Turnbull

Mol Biol Evol 2007 Oct 21;24(10):2213-21. Epub 2007 Jul 21.

MIGENIX Corp., San Diego, CA, USA.

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http://dx.doi.org/10.1093/molbev/msm147DOI Listing
October 2007

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

Authors:
Roger G Whittaker Andrew M Schaefer Robert McFarland Robert W Taylor Mark Walker Douglass M Turnbull

Diabetes Care 2007 Sep 31;30(9):2238-9. Epub 2007 May 31.

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.2337/dc07-0466DOI Listing
September 2007

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

Authors:
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

Brain 2007 Aug 20;130(Pt 8):2045-54. Epub 2007 Jun 20.

The Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Aarhus, Denmark.

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http://dx.doi.org/10.1093/brain/awm135DOI Listing
August 2007

Mitochondrial DNA transcription: regulating the power supply.

Authors:
Robert W Taylor Douglass M Turnbull

Cell 2007 Jul;130(2):211-3

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.cell.2007.07.002DOI Listing
July 2007

Biochemical assays of respiratory chain complex activity.

Authors:
Denise M Kirby David R Thorburn Douglass M Turnbull Robert W Taylor

Methods Cell Biol 2007 ;80:93-119

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom.

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http://dx.doi.org/10.1016/S0091-679X(06)80004-XDOI Listing
June 2007

Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach.

Authors:
Joanna L Elson Douglass M Turnbull Robert W Taylor

Biochem J 2007 Jun;404(2):e3-5

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1042/BJ20070524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1868807PMC
June 2007

Experimental strategies towards treating mitochondrial DNA disorders.

Authors:
Julie L Gardner Lyndsey Craven Douglass M Turnbull Robert W Taylor

Biosci Rep 2007 Jun;27(1-3):139-50

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.

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http://dx.doi.org/10.1007/s10540-007-9042-3DOI Listing
June 2007

Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.

Authors:
Gavin Hudson Andrew M Schaefer Robert W Taylor Watcharee Tiangyou Andrew Gibson Graham Venables Philip Griffiths David J Burn Douglass M Turnbull Patrick F Chinnery

Arch Neurol 2007 Apr;64(4):553-7

Mitochondrial Research Group, University of Newcastle upon Tyne, United Kingdom.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/arc
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http://dx.doi.org/10.1001/archneur.64.4.553DOI Listing
April 2007

Mitochondrial DNA mutations and aging.

Authors:
Kim J Krishnan Laura C Greaves Amy K Reeve Douglass M Turnbull

Ann N Y Acad Sci 2007 Apr;1100:227-40

Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Newcastle University, Framlington Place, NE2 4HH, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1196/annals.1395.024DOI Listing
April 2007