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.

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.

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.

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

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

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

Mitochondrial diseases.

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

Genetic and biochemical intricacy shapes mitochondrial cytopathies.

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

Reply.

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

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

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.

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

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

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.

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.

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.

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
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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.

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.

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

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

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

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

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

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

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.

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.

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.

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
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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.

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.

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.

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.

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.

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

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

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.

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

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

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.

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

Transcriptome analysis in mitochondrial disorders.

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.

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

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

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.

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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http://dx.doi.org/10.1002/14651858.CD004426.pub3DOI Listing
April 2012

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

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.

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.

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://journals.plos.org/plosone/article?id=10.1371/journal.pone.0022294PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3142121PMC
December 2011

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

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

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

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

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

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

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

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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http://linkinghub.elsevier.com/retrieve/pii/S109671921000174
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http://dx.doi.org/10.1016/j.ymgme.2010.04.010DOI Listing
August 2010

A neurological perspective on mitochondrial disease.

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.

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.

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.

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

Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations.

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.

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.

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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https://linkinghub.elsevier.com/retrieve/pii/S00052728090026
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http://dx.doi.org/10.1016/j.bbabio.2009.09.005DOI Listing
February 2010

Neuromuscular disease presentation with three genetic defects involving two genomes.

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

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

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.

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

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

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.

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

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

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

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

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.

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?

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.

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.

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.

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?

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

Mitochondrial DNA transcription: regulating the power supply.

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.

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.

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.

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

Mitochondrial DNA mutations and aging.

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