Douglass M. Turnbull - Publications

Affiliations: 
Institute for Ageing & Health Newcastle University, UK 

83 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawess C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M. Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports. PMID 30655224 DOI: 10.1016/J.Celrep.2019.01.010  0.6
2018 Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel KA, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, ... ... Turnbull DM, et al. Sub-cellular origin of mtDNA deletions in human skeletal muscle. Annals of Neurology. PMID 30014514 DOI: 10.1002/Ana.25288  0.6
2018 Stamp C, Zupanic A, Sachdeva A, Stoll EA, Shanley DP, Mathers JC, Kirkwood TBL, Heer R, Simons BD, Turnbull DM, Greaves LC. Predominant Asymmetrical Stem Cell Fate Outcome Limits the Rate of Niche Succession in Human Colonic Crypts. Ebiomedicine. PMID 29748033 DOI: 10.1016/J.Ebiom.2018.04.017  0.6
2017 Rygiel K, Dodds R, Patel H, Syddall H, Westbury L, Granic A, Cooper C, Cliff J, Rocha M, Turnbull D, Sayer A. Association of mitochondrial respiratory chain deficiency in older men with muscle mass and physical performance: findings from the Hertfordshire Sarcopenia Study The Lancet. 389. DOI: 10.1016/S0140-6736(17)30483-X  0.6
2016 Stoll EA, Karapavlovic N, Rosa H, Woodmass M, Rygiel K, White K, Turnbull DM, Faulkes CG. Naked mole-rats maintain healthy skeletal muscle and Complex IV mitochondrial enzyme function into old age. Aging. PMID 27997359 DOI: 10.18632/aging.101140  0.6
2016 Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports. 6: 30610. PMID 27506553 DOI: 10.1038/Srep30610  0.6
2016 Lin H, Patel S, Affleck VS, Wilson I, Turnbull DM, Joshi AR, Maxwell R, Stoll EA. Fatty acid oxidation is required for the respiration and proliferation of malignant glioma cells. Neuro-Oncology. PMID 27365097 DOI: 10.1093/Neuonc/Now128  0.6
2015 Grünewald A, Rygiel KA, Hepplewhite PD, Morris CM, Picard M, Turnbull DM. Mitochondrial DNA depletion in respiratory chain-deficient Parkinson disease neurons. Annals of Neurology. PMID 26605748 DOI: 10.1002/Ana.24571  0.01
2015 Rai PK, Russell OM, Lightowlers RN, Turnbull DM. Potential compounds for the treatment of mitochondrial disease. British Medical Bulletin. PMID 26590387 DOI: 10.1093/Bmb/Ldv046  0.2
2015 Chan F, Lax NZ, Davies CH, Turnbull DM, Cunningham MO. Neuronal oscillations: a physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases? Neuropharmacology. PMID 26518370 DOI: 10.1016/J.Neuropharm.2015.10.033  0.01
2015 Rocha MC, Grady JP, Grünewald A, Vincent A, Dobson PF, Taylor RW, Turnbull DM, Rygiel KA. A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis. Scientific Reports. 5: 15037. PMID 26469001 DOI: 10.1038/Srep15037  0.01
2015 Ng YS, Gorman GS, Turnbull DM, Martikainen MH. The diagnosis of posterior reversible encephalopathy syndrome. The Lancet. Neurology. 14: 1073. PMID 26466774 DOI: 10.1016/S1474-4422(15)00253-7  0.01
2015 Craven L, Herbert M, Murdoch A, Murphy J, Lawford Davies J, Turnbull DM. Research into Policy: A Brief History of Mitochondrial Donation. Stem Cells (Dayton, Ohio). PMID 26418557 DOI: 10.1002/Stem.2221  0.2
2015 Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain? Science (New York, N.Y.). 349: 1494-9. PMID 26404827 DOI: 10.1126/Science.Aac7516  0.2
2015 Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM. Epilepsy in adults with mitochondrial disease: A cohort study. Annals of Neurology. PMID 26381753 DOI: 10.1002/Ana.24525  0.01
2015 Chrysostomou A, Grady JP, Laude A, Taylor RW, Turnbull DM, Lax NZ. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. Neuropathology and Applied Neurobiology. PMID 26337858 DOI: 10.1111/Nan.12282  0.2
2015 Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. Journal of Neurology. PMID 26315846 DOI: 10.1007/S00415-015-7884-3  0.2
2015 Martikainen MH, Gorman GS, Goldsmith P, Burn DJ, Turnbull DM, Schaefer AM. Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 30: 1432-3. PMID 26265210 DOI: 10.1002/Mds.26358  0.01
2015 Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, et al. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European Heart Journal. PMID 26188002 DOI: 10.1093/Eurheartj/Ehv306  0.01
2015 Reeve AK, Ludtmann MH, Angelova PR, Simcox EM, Horrocks MH, Klenerman D, Gandhi S, Turnbull DM, Abramov AY. Aggregated α-synuclein and complex I deficiency: exploration of their relationship in differentiated neurons. Cell Death & Disease. 6: e1820. PMID 26181201 DOI: 10.1038/Cddis.2015.166  0.2
2015 Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscular Disorders : Nmd. 25: 563-6. PMID 26031904 DOI: 10.1016/J.Nmd.2015.03.001  0.01
2015 Rygiel KA, Grady JP, Taylor RW, Tuppen HA, Turnbull DM. Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells. Scientific Reports. 5: 9906. PMID 25989140 DOI: 10.1038/Srep09906  0.01
2015 Stoll EA, Makin R, Sweet IR, Trevelyan AJ, Miwa S, Horner PJ, Turnbull DM. Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity. Stem Cells (Dayton, Ohio). 33: 2306-19. PMID 25919237 DOI: 10.1002/Stem.2042  0.6
2015 Herbert M, Turnbull D. Mitochondrial replacement to prevent the transmission of mitochondrial DNA disease. Embo Reports. 16: 539-40. PMID 25888328 DOI: 10.15252/Embr.201540354  0.2
2015 Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM. Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease. Neuropathology and Applied Neurobiology. PMID 25786813 DOI: 10.1111/Nan.12238  0.2
2015 Turnbull DM, Rustin P. Genetic and biochemical intricacy shapes mitochondrial cytopathies. Neurobiology of Disease. PMID 25684538 DOI: 10.1016/J.Nbd.2015.02.003  0.01
2015 Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Annals of Neurology. 77: 753-9. PMID 25652200 DOI: 10.1002/Ana.24362  0.01
2015 Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Yu-Wai-Man P, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial donation--how many women could benefit? The New England Journal of Medicine. 372: 885-7. PMID 25629662 DOI: 10.1056/Nejmc1500960  0.2
2015 Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HA, Greaves LC, He L, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical Science (London, England : 1979). 128: 895-904. PMID 25626417 DOI: 10.1042/Cs20140705  0.01
2015 Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, et al. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. Jama Neurology. 72: 106-11. PMID 25420100 DOI: 10.1001/Jamaneurol.2014.1753  0.01
2015 Richardson J, Irving L, Hyslop LA, Choudhary M, Murdoch A, Turnbull DM, Herbert M. Concise reviews: Assisted reproductive technologies to prevent transmission of mitochondrial DNA disease. Stem Cells (Dayton, Ohio). 33: 639-45. PMID 25377180 DOI: 10.1002/Stem.1887  0.01
2015 Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RD, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, et al. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney International. 87: 610-22. PMID 25207879 DOI: 10.1038/Ki.2014.297  0.01
2015 Rygiel KA, Miller J, Grady JP, Rocha MC, Taylor RW, Turnbull DM. Mitochondrial and inflammatory changes in sporadic inclusion body myositis. Neuropathology and Applied Neurobiology. 41: 288-303. PMID 24750247 DOI: 10.1111/Nan.12149  0.01
2015 Vincent A, Rocha M, Rygiel K, Grady J, Campbell G, Barresi R, Taylor R, Turnbull D. Mitochondrial dysfunction: A key player in myofibrillar myopathy? Neuromuscular Disorders. 25. DOI: 10.1016/J.Nmd.2015.06.260  0.6
2014 Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HA. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle. Plos One. 9: e114462. PMID 25474153 DOI: 10.1371/Journal.Pone.0114462  0.2
2014 Greaves LC, Nooteboom M, Elson JL, Tuppen HA, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TB, Mathers JC, Turnbull DM. Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing. Plos Genetics. 10: e1004620. PMID 25232829 DOI: 10.1371/Journal.Pgen.1004620  0.2
2014 Khrapko K, Turnbull D. Mitochondrial DNA mutations in aging. Progress in Molecular Biology and Translational Science. 127: 29-62. PMID 25149213 DOI: 10.1016/B978-0-12-394625-6.00002-7  0.2
2014 Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, ... Turnbull DM, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. Jama. 312: 68-77. PMID 25058219 DOI: 10.1001/Jama.2014.7184  0.01
2014 Baines HL, Stewart JB, Stamp C, Zupanic A, Kirkwood TB, Larsson NG, Turnbull DM, Greaves LC. Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans. Mechanisms of Ageing and Development. 139: 22-30. PMID 24915468 DOI: 10.1016/J.Mad.2014.06.003  0.2
2014 Grünewald A, Lax NZ, Rocha MC, Reeve AK, Hepplewhite PD, Rygiel KA, Taylor RW, Turnbull DM. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue. Journal of Neuroscience Methods. 232: 143-9. PMID 24880043 DOI: 10.1016/J.Jneumeth.2014.05.026  0.01
2014 Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS. Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation. Neuromuscular Disorders : Nmd. 24: 533-6. PMID 24792523 DOI: 10.1016/J.Nmd.2014.03.011  0.01
2014 Chinnery PF, Craven L, Mitalipov S, Stewart JB, Herbert M, Turnbull DM. The challenges of mitochondrial replacement. Plos Genetics. 10: e1004315. PMID 24762741 DOI: 10.1371/Journal.Pgen.1004315  0.2
2014 Campbell G, Krishnan KJ, Deschauer M, Taylor RW, Turnbull DM. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle. Human Molecular Genetics. 23: 4612-20. PMID 24740879 DOI: 10.1093/Hmg/Ddu176  0.01
2014 Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, ... Turnbull DM, et al. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain : a Journal of Neurology. 137: 1323-36. PMID 24727571 DOI: 10.1093/Brain/Awu060  0.24
2014 Rygiel KA, Grady JP, Turnbull DM. Respiratory chain deficiency in aged spinal motor neurons. Neurobiology of Aging. 35: 2230-8. PMID 24684792 DOI: 10.1016/J.Neurobiolaging.2014.02.027  0.2
2014 Russell O, Turnbull D. Mitochondrial DNA disease-molecular insights and potential routes to a cure. Experimental Cell Research. 325: 38-43. PMID 24675282 DOI: 10.1016/J.Yexcr.2014.03.012  0.2
2014 Nesbitt V, Alston CL, Blakely EL, Fratter C, Feeney CL, Poulton J, Brown GK, Turnbull DM, Taylor RW, McFarland R. A national perspective on prenatal testing for mitochondrial disease. European Journal of Human Genetics : Ejhg. 22: 1255-9. PMID 24642831 DOI: 10.1038/Ejhg.2014.35  0.01
2014 Reeve A, Simcox E, Turnbull D. Ageing and Parkinson's disease: why is advancing age the biggest risk factor? Ageing Research Reviews. 14: 19-30. PMID 24503004 DOI: 10.1016/J.Arr.2014.01.004  0.2
2014 Greggains GD, Lister LM, Tuppen HA, Zhang Q, Needham LH, Prathalingam N, Hyslop LA, Craven L, Polanski Z, Murdoch AP, Turnbull DM, Herbert M. Therapeutic potential of somatic cell nuclear transfer for degenerative disease caused by mitochondrial DNA mutations. Scientific Reports. 4: 3844. PMID 24457623 DOI: 10.1038/Srep03844  0.2
2014 Baines HL, Turnbull DM, Greaves LC. Human stem cell aging: do mitochondrial DNA mutations have a causal role? Aging Cell. 13: 201-5. PMID 24382254 DOI: 10.1111/Acel.12199  0.2
2014 Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R. Disease progression in patients with single, large-scale mitochondrial DNA deletions. Brain : a Journal of Neurology. 137: 323-34. PMID 24277717 DOI: 10.1093/Brain/Awt321  0.01
2014 Galna B, Newman J, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Gorman GS, Rochester L. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences. Journal of Neurology. 261: 73-82. PMID 24150688 DOI: 10.1007/S00415-013-7129-2  0.01
2014 Gorman GS, Pitceathly RDS, Turnbull DM, Taylor RW. RRM2B-related mitochondrial disease Mitochondrial Disorders Caused by Nuclear Genes. 171-182. DOI: 10.1007/978-1-4614-3722-2_11  0.01
2013 Simcox EM, Reeve A, Turnbull D. Monitoring mitochondrial dynamics and complex I dysfunction in neurons: implications for Parkinson's disease. Biochemical Society Transactions. 41: 1618-24. PMID 24256264 DOI: 10.1042/Bst20130189  0.2
2013 Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He L, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, et al. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions. Neurology. 81: 2051-3. PMID 24198295 DOI: 10.1212/01.Wnl.0000436931.94291.E6  0.01
2013 Pienaar IS, Elson JL, Racca C, Nelson G, Turnbull DM, Morris CM. Mitochondrial abnormality associates with type-specific neuronal loss and cell morphology changes in the pedunculopontine nucleus in Parkinson disease. The American Journal of Pathology. 183: 1826-40. PMID 24099985 DOI: 10.1016/J.Ajpath.2013.09.002  0.2
2013 Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Griffiths PG, Blamire AM, Chinnery PF, Yu-Wai-Man P. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. Plos One. 8: e75048. PMID 24086434 DOI: 10.1371/Journal.Pone.0075048  0.01
2013 Picard M, Gentil BJ, McManus MJ, White K, St Louis K, Gartside SE, Wallace DC, Turnbull DM. Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle. Journal of Applied Physiology (Bethesda, Md. : 1985). 115: 1562-71. PMID 23970537 DOI: 10.1152/Japplphysiol.00819.2013  0.6
2013 Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies. Human Molecular Genetics. 22: 4739-47. PMID 23847047 DOI: 10.1093/Hmg/Ddt327  0.01
2013 Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, et al. New treatments for mitochondrial disease-no time to drop our standards. Nature Reviews. Neurology. 9: 474-81. PMID 23817350 DOI: 10.1038/nrneurol.2013.129  0.2
2013 Reeve A, Meagher M, Lax N, Simcox E, Hepplewhite P, Jaros E, Turnbull D. The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 33: 10790-801. PMID 23804100 DOI: 10.1523/Jneurosci.3525-12.2013  0.01
2013 Campbell GR, Reeve AK, Ziabreva I, Reynolds R, Turnbull DM, Mahad DJ. No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis. Multiple Sclerosis (Houndmills, Basingstoke, England). 19: 1858-66. PMID 23787892 DOI: 10.1177/1352458513490547  0.01
2013 Schaefer AM, Walker M, Turnbull DM, Taylor RW. Endocrine disorders in mitochondrial disease. Molecular and Cellular Endocrinology. 379: 2-11. PMID 23769710 DOI: 10.1016/J.Mce.2013.06.004  0.01
2013 Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, MacGowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, et al. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease. International Journal of Cardiology. 168: 3599-608. PMID 23742928 DOI: 10.1016/J.Ijcard.2013.05.062  0.01
2013 Blakely EL, Yarham JW, Alston CL, Craig K, Poulton J, Brierley C, Park SM, Dean A, Xuereb JH, Anderson KN, Compston A, Allen C, Sharif S, Enevoldson P, Wilson M, ... Turnbull DM, et al. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Human Mutation. 34: 1260-8. PMID 23696415 DOI: 10.1002/Humu.22358  0.01
2013 Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, ... Turnbull D, et al. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. Human Mutation. 34: 1111-8. PMID 23606453 DOI: 10.1002/Humu.22342  0.2
2013 Whittaker RG, Hall E, Mansoor MK, Taylor RW, Turnbull DM. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease. Journal of the Peripheral Nervous System : Jpns. 18: 59-61. PMID 23521646 DOI: 10.1111/Jns5.12009  0.2
2013 Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS. Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscular Disorders : Nmd. 23: 324-9. PMID 23433484 DOI: 10.1016/J.Nmd.2012.12.012  0.01
2013 Picard M, Turnbull DM. Linking the metabolic state and mitochondrial DNA in chronic disease, health, and aging. Diabetes. 62: 672-8. PMID 23431006 DOI: 10.2337/Db12-1203  0.01
2013 Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management. Journal of Neurology, Neurosurgery, and Psychiatry. 84: 936-8. PMID 23355809 DOI: 10.1136/Jnnp-2012-303528  0.01
2013 Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. 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. Journal of Neuropathology and Experimental Neurology. 72: 164-75. PMID 23334599 DOI: 10.1097/Nen.0B013E31828129C5  0.2
2013 Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease. Journal of the Neurological Sciences. 325: 165-9. PMID 23273904 DOI: 10.1016/J.Jns.2012.12.003  0.01
2013 Bates MG, Hollingsworth KG, Newman JH, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. European Heart Journal Cardiovascular Imaging. 14: 650-8. PMID 23129433 DOI: 10.1136/Heartjnl-2012-301877B.71  0.01
2013 Picard M, White K, Turnbull DM. Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: A quantitative three-dimensional electron microscopy study Journal of Applied Physiology. 114: 161-171. PMID 23104694 DOI: 10.1152/Japplphysiol.01096.2012  0.6
2013 Campbell GR, Reeve A, Ziabreva I, Polvikoski TM, Taylor RW, Reynolds R, Turnbull DM, Mahad DJ. Mitochondrial DNA deletions and depletion within paraspinal muscles. Neuropathology and Applied Neurobiology. 39: 377-89. PMID 22762368 DOI: 10.1111/J.1365-2990.2012.01290.X  0.01
2012 Shakir AA, Turnbull DM, Adams JR. Management of patients with dental disease and mitochondrial disorders. Dental Update. 39: 654-5. PMID 23479854 DOI: 10.12968/Denu.2012.39.9.654  0.2
2012 Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, ... Turnbull DM, et al. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? Brain : a Journal of Neurology. 135: 3614-26. PMID 23250882 DOI: 10.1093/Brain/Aws298  0.2
2012 Picard M, Jung B, Liang F, Azuelos I, Hussain S, Goldberg P, Godin R, Danialou G, Chaturvedi R, Rygiel K, Matecki S, Jaber S, Des Rosiers C, Karpati G, Ferri L, ... ... Turnbull DM, et al. Mitochondrial dysfunction and lipid accumulation in the human diaphragm during mechanical ventilation. American Journal of Respiratory and Critical Care Medicine. 186: 1140-9. PMID 23024021 DOI: 10.1164/rccm.201206-0982OC  0.6
2012 Rowan SL, Rygiel K, Purves-Smith FM, Solbak NM, Turnbull DM, Hepple RT. Denervation causes fiber atrophy and myosin heavy chain co-expression in senescent skeletal muscle. Plos One. 7: e29082. PMID 22235261 DOI: 10.1371/journal.pone.0029082  0.6
2009 Mahad DJ, Ziabreva I, Campbell G, Lax N, White K, Hanson PS, Lassmann H, Turnbull DM. Mitochondrial changes within axons in multiple sclerosis. Brain : a Journal of Neurology. 132: 1161-74. PMID 19293237 DOI: 10.1093/Brain/Awp046  0.6
2007 Hogan V, White K, Edgar J, Griffiths I, Turnbull D, Nichols P. Axonal adaptation to demyelination in the Plp mouse Multiple Sclerosis Journal. DOI: 10.1177/1352458507083605  0.6
2006 Andrews H, White K, Thomson C, Edgar J, Bates D, Griffiths I, Turnbull D, Nichols P. Increased axonal mitochondrial activity as an adaptation to myelin deficiency in the Shiverer mouse Journal of Neuroscience Research. 83: 1533-1539. PMID 16555298 DOI: 10.1002/Jnr.20842  0.6
2005 Thomson C, Nichols P, Andrews H, Turnbull D, White K, Bates D, Edgar J, Griffiths I. Mitochondria and axonal loss in multiple sclerosis: the shiverer mouse as a model of secondary progressive MS Journal of Neurology. 252: 22. PMID 15940433 DOI: 10.1007/S00415-005-2001-7  0.6
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