| Year |
Citation |
Score |
| 2020 |
Warren C, McDonald D, Capaldi R, Deehan D, Taylor RW, Filby A, Turnbull DM, Lawless C, Vincent AE. Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry. Scientific Reports. 10: 15336. PMID 32948797 DOI: 10.1038/S41598-020-70885-3 |
0.466 |
|
| 2020 |
Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. Genome Biology. 21: 248. PMID 32943091 DOI: 10.1186/S13059-020-02138-5 |
0.532 |
|
| 2020 |
Dobson PF, Dennis EP, Hipps D, Reeve A, Laude A, Bradshaw C, Stamp C, Smith A, Deehan DJ, Turnbull DM, Greaves LC. Mitochondrial dysfunction impairs osteogenesis, increases osteoclast activity, and accelerates age related bone loss. Scientific Reports. 10: 11643. PMID 32669663 DOI: 10.1038/S41598-020-68566-2 |
0.379 |
|
| 2020 |
Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial Diseases: Hope for the Future. Cell. 181: 168-188. PMID 32220313 DOI: 10.1016/j.cell.2020.02.051 |
0.453 |
|
| 2020 |
Franco M, Pickett S, Fleischmann Z, Khrapko M, Annis S, Woods D, Markuzon N, Turnbull D, Khrapko K. Can detrimental mtDNA mutations be under positive selection in the germline The Faseb Journal. 34: 1-1. DOI: 10.1096/Fasebj.2020.34.S1.09461 |
0.381 |
|
| 2019 |
Erskine D, Reeve AK, Polvikoski T, Schaefer AM, Taylor RW, Lax NZ, El-Agnaf O, Attems J, Gorman GS, Turnbull DM, Ng YS. Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. Acta Neuropathologica. PMID 31781911 DOI: 10.1007/S00401-019-02105-W |
0.433 |
|
| 2019 |
Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, DeGoede C, McEntagart M, Spinty S, ... ... Turnbull DM, et al. Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Disease Cohort Study. Annals of Neurology. PMID 31187502 DOI: 10.1002/Ana.25525 |
0.433 |
|
| 2019 |
Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic Acids Research. PMID 31147703 DOI: 10.1093/Nar/Gkz472 |
0.515 |
|
| 2019 |
Moore HL, Kelly T, Bright A, Field RH, Schaefer AM, Blain AP, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability. Annals of Clinical and Translational Neurology. 6: 826-836. PMID 31139680 DOI: 10.1002/Acn3.736 |
0.357 |
|
| 2019 |
Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Mitochondrial Donation - Which Women Could Benefit? The New England Journal of Medicine. 380: 1971-1972. PMID 31091381 DOI: 10.1056/Nejmc1808565 |
0.479 |
|
| 2019 |
Chen C, Turnbull DM, Reeve AK. Mitochondrial Dysfunction in Parkinson's Disease-Cause or Consequence? Biology. 8. PMID 31083583 DOI: 10.3390/Biology8020038 |
0.433 |
|
| 2019 |
Feeney CL, Lim A, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R. A case-comparison study of pregnant women with mitochondrial disease - what to expect? Bjog : An International Journal of Obstetrics and Gynaecology. PMID 30801962 DOI: 10.1111/1471-0528.15667 |
0.341 |
|
| 2019 |
Chan F, Lax NZ, Voss CM, Aldana BI, Whyte S, Jenkins A, Nicholson C, Nichols S, Tilley E, Powell Z, Waagepetersen HS, Davies CH, Turnbull DM, Cunningham MO. The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction. Brain : a Journal of Neurology. PMID 30689758 DOI: 10.1093/Brain/Awy320 |
0.384 |
|
| 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 |
0.524 |
|
| 2019 |
Spiropoulos J, Chinnery PF, Turnbull DM. Pathogenic mitochondrial DNA mutations and human reproduction. Human Fertility (Cambridge, England). 2: 133-137. PMID 11844341 DOI: 10.1080/1464727992000198511 |
0.5 |
|
| 2019 |
Yu X, Arden C, Chen C, Bradshaw C, Whitehall J, White MG, Anderson SJ, Shaw JA, Turnbull D, Greaves L, Walker M. 333-LB: Impact of Aging on Mitochondrial Respiratory Chain Expression and Pancreatic Islet Cell Composition by Using a Mitochondrial DNA Mutator Mouse Model Diabetes. 68. DOI: 10.2337/Db19-333-Lb |
0.365 |
|
| 2019 |
Sachdeva A, Hart CA, Carey C, Lawless C, Brown MD, Greaves L, Heer R, Turnbull DM, Clarke NW. Mitochondrial dysfunction correlates directly with progression and poor long-term prognosis in prostate cancer European Urology Supplements. 18. DOI: 10.1016/S1569-9056(19)30348-3 |
0.35 |
|
| 2019 |
Sachdeva A, Feeney C, Gorman G, Turnbull D, Harding C. Lower urinary tract symptoms amongst adult patients with genetically-confirmed mitochondrial disease European Urology Supplements. 18: e108. DOI: 10.1016/S1569-9056(19)30080-6 |
0.413 |
|
| 2018 |
Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R. Height as a clinical biomarker of disease burden in adult mitochondrial disease. The Journal of Clinical Endocrinology and Metabolism. PMID 30423112 DOI: 10.1210/Jc.2018-00957 |
0.43 |
|
| 2018 |
Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Diagnosis and Treatment of Mitochondrial Myopathies. Neurotherapeutics : the Journal of the American Society For Experimental Neurotherapeutics. PMID 30406383 DOI: 10.1007/S13311-018-00674-4 |
0.546 |
|
| 2018 |
Gorman GS, McFarland R, Stewart J, Feeney C, Turnbull DM. Mitochondrial donation: from test tube to clinic. Lancet (London, England). 392: 1191-1192. PMID 30319102 DOI: 10.1016/S0140-6736(18)31868-3 |
0.434 |
|
| 2018 |
Dodds RM, Davies K, Granic A, Hollingsworth KG, Warren C, Gorman G, Turnbull DM, Sayer AA. Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women. Experimental Gerontology. PMID 30266472 DOI: 10.1016/J.Exger.2018.09.020 |
0.466 |
|
| 2018 |
Su T, Grady JP, Afshar S, McDonald SA, Taylor RW, Turnbull DM, Greaves LC. Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations. The Journal of Pathology. PMID 30146801 DOI: 10.1002/Path.5156 |
0.473 |
|
| 2018 |
Koref MS, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution. Mitochondrion. PMID 30098421 DOI: 10.1016/J.Mito.2018.08.003 |
0.462 |
|
| 2018 |
Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study. Brain Pathology (Zurich, Switzerland). PMID 30021052 DOI: 10.1111/Bpa.12640 |
0.421 |
|
| 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 |
0.418 |
|
| 2018 |
Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study. Pulmonary Circulation. 8: 2045894018768290. PMID 29799315 DOI: 10.1177/2045894018768290 |
0.424 |
|
| 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 |
0.727 |
|
| 2018 |
Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. Embo Molecular Medicine. PMID 29735722 DOI: 10.15252/Emmm.201708262 |
0.42 |
|
| 2018 |
Su T, Turnbull DM, Greaves LC. Roles of Mitochondrial DNA Mutations in Stem Cell Ageing. Genes. 9. PMID 29584704 DOI: 10.3390/Genes9040182 |
0.487 |
|
| 2018 |
Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Annals of Clinical and Translational Neurology. 5: 333-345. PMID 29560378 DOI: 10.1002/Acn3.532 |
0.454 |
|
| 2018 |
Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, ... ... Turnbull DM, et al. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. Ebiomedicine. PMID 29506874 DOI: 10.1016/J.Ebiom.2018.02.010 |
0.499 |
|
| 2018 |
Russell OM, Fruh I, Rai PK, Marcellin D, Doll T, Reeve A, Germain M, Bastien J, Rygiel KA, Cerino R, Sailer AW, Lako M, Taylor RW, Mueller M, Lightowlers RN, ... Turnbull DM, et al. Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo. Scientific Reports. 8: 1799. PMID 29379065 DOI: 10.1038/S41598-018-20064-2 |
0.453 |
|
| 2018 |
Herbert M, Turnbull D. Progress in mitochondrial replacement therapies. Nature Reviews Molecular Cell Biology. 19: 71-72. PMID 29358685 DOI: 10.1038/Nrm.2018.3 |
0.497 |
|
| 2018 |
Jones DM, Schafer AM, Bates MGD, Bourke J, Gorman GS, Turnbull DM, McFarland R, Ng YS. P3462Cardiac manifestations in adult patients with mitochondrial disease arising from nuclear gene mutations: do they benefit from cardiac surveillance? European Heart Journal. 39. DOI: 10.1093/Eurheartj/Ehy563.P3462 |
0.482 |
|
| 2017 |
Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Molecular Cell. PMID 29290614 DOI: 10.1016/J.Molcel.2017.11.033 |
0.505 |
|
| 2017 |
Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Annals of Neurology. PMID 29283441 DOI: 10.1002/Ana.25127 |
0.497 |
|
| 2017 |
Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Oláhová M, McFarland R, Turnbull DM, Rocha MC, Taylor RW. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Scientific Reports. 7: 15676. PMID 29142257 DOI: 10.1038/S41598-017-14623-2 |
0.49 |
|
| 2017 |
McFarland B, Bindoff L, Gorman G, Horvath R, Turnbull D. International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscular Disorders. 27: 1126-1137. PMID 29074296 DOI: 10.1016/J.Nmd.2017.08.006 |
0.35 |
|
| 2017 |
Houghton D, Stewart CJ, Stamp C, Nelson A, Ajami NJ, Petrosino JF, Wipat A, Trenell MI, Turnbull DM, Greaves LC. Impact of age-related mitochondrial dysfunction and exercise on intestinal microbiota composition. The Journals of Gerontology. Series a, Biological Sciences and Medical Sciences. PMID 29045670 DOI: 10.1093/Gerona/Glx197 |
0.382 |
|
| 2017 |
Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M. Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia. Neurology. Genetics. 3: e181. PMID 28815208 DOI: 10.1212/Nxg.0000000000000181 |
0.472 |
|
| 2017 |
Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM. Decreased male reproductive success in association with mitochondrial dysfunction. European Journal of Human Genetics : Ejhg. PMID 28812649 DOI: 10.1038/Ejhg.2017.114 |
0.482 |
|
| 2017 |
Craven L, Alston CL, Taylor RW, Turnbull DM. Recent Advances in Mitochondrial Disease. Annual Review of Genomics and Human Genetics. PMID 28415858 DOI: 10.1146/Annurev-Genom-091416-035426 |
0.481 |
|
| 2017 |
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, ... ... Turnbull DM, et al. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy. Jama Neurology. PMID 28395030 DOI: 10.1001/Jamaneurol.2016.4357 |
0.47 |
|
| 2017 |
Maddison J, Stewart J, Turnbull D, Rapley T. Reproductive options in maternally inherited mitochondrial disease: ‘making sense’ Neuromuscular Disorders. 27: S20-S21. DOI: 10.1016/S0960-8966(17)30278-X |
0.375 |
|
| 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 |
0.365 |
|
| 2016 |
Herbert M, Turnbull D. Mitochondrial Donation - Clearing the Final Regulatory Hurdle in the United Kingdom. The New England Journal of Medicine. PMID 28030773 DOI: 10.1056/Nejmcibr1615669 |
0.442 |
|
| 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 |
0.765 |
|
| 2016 |
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nature Reviews. Disease Primers. 2: 16080. PMID 27775730 DOI: 10.1038/nrdp.2016.80 |
0.465 |
|
| 2016 |
Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM. Dysferlin mutations and mitochondrial dysfunction. Neuromuscular Disorders : Nmd. PMID 27666772 DOI: 10.1016/J.Nmd.2016.08.008 |
0.512 |
|
| 2016 |
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. The Journal of Pathology. PMID 27659608 DOI: 10.1002/Path.4809 |
0.541 |
|
| 2016 |
Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscular Disorders : Nmd. PMID 27618136 DOI: 10.1016/J.Nmd.2016.08.004 |
0.554 |
|
| 2016 |
Dobson PF, Rocha MC, Grady JP, Chrysostomou A, Hipps D, Watson S, Greaves LC, Deehan DJ, Turnbull DM. Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice. Scientific Reports. 6: 31907. PMID 27553587 DOI: 10.1038/Srep31907 |
0.461 |
|
| 2016 |
Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, et al. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurology. Genetics. 2: e82. PMID 27536729 DOI: 10.1212/Nxg.0000000000000082 |
0.547 |
|
| 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 |
0.539 |
|
| 2016 |
Ehinger JK, Piel S, Ford R, Karlsson M, Sjövall F, Frostner EÅ, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmér E. Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. Nature Communications. 7: 12317. PMID 27502960 DOI: 10.1038/Ncomms12317 |
0.488 |
|
| 2016 |
Martikainen MH, Burn DJ, Turnbull DM. Spectrum of Movement Disorders in Mitochondrial Disorders-Reply. Jama Neurology. 73: 1254-1255. PMID 27479912 DOI: 10.1001/Jamaneurol.2016.2578 |
0.343 |
|
| 2016 |
Hyslop LA, Blakeley P, Craven L, Richardson J, Fogarty NM, Fragouli E, Lamb M, Wamaitha SE, Prathalingam N, Zhang Q, O'Keefe H, Takeda Y, Arizzi L, Alfarawati S, Tuppen HA, ... ... Turnbull DM, et al. Corrigendum: Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature. PMID 27462813 DOI: 10.1038/Nature19105 |
0.446 |
|
| 2016 |
Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke and mitochondrial dysfunction: A lethal combination. Annals of Neurology. PMID 27453452 DOI: 10.1002/Ana.24736 |
0.464 |
|
| 2016 |
Picard M, Vincent AE, Turnbull DM. Expanding Our Understanding of mtDNA Deletions. Cell Metabolism. 24: 3-4. PMID 27411002 DOI: 10.1016/J.Cmet.2016.06.024 |
0.474 |
|
| 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 |
0.707 |
|
| 2016 |
Cadete VJ, Deschênes S, Cuillerier A, Brisebois F, Sugiura A, Vincent A, Turnbull D, Picard M, McBride H, Burelle Y. Formation of Mitchondrial-derived vesicles is an active and physiologically relevant mitochondrial quality control process in the cardiac system. The Journal of Physiology. PMID 27311616 DOI: 10.1113/Jp272703 |
0.44 |
|
| 2016 |
Lax NZ, Gorman GS, Turnbull DM. Invited Review: Central nervous system involvement in mitochondrial disease. Neuropathology and Applied Neurobiology. PMID 27287935 DOI: 10.1111/Nan.12333 |
0.542 |
|
| 2016 |
Hyslop LA, Blakeley P, Craven L, Richardson J, Fogarty NM, Fragouli E, Lamb M, Wamaitha SE, Prathalingam N, Zhang Q, O'Keefe H, Takeda Y, Arizzi L, Alfarawati S, Tuppen HA, ... ... Turnbull DM, et al. Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature. PMID 27281217 DOI: 10.1038/Nature18303 |
0.474 |
|
| 2016 |
Phillips J, Laude A, Lightowlers R, Morris CM, Turnbull DM, Lax NZ. Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease. Scientific Reports. 6: 26013. PMID 27181107 DOI: 10.1038/Srep26013 |
0.445 |
|
| 2016 |
Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Research. PMID 27131788 DOI: 10.1093/Nar/Gkw382 |
0.565 |
|
| 2016 |
Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. Jama Neurology. PMID 27111573 DOI: 10.1001/Jamaneurol.2016.0355 |
0.438 |
|
| 2016 |
Russell OM, Lightowlers RN, Turnbull DM. Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia Molecular Cell. 62: 5-6. PMID 27058784 DOI: 10.1016/J.Molcel.2016.03.027 |
0.471 |
|
| 2016 |
Rygiel KA, Picard M, Turnbull DM. The ageing neuromuscular system and sarcopenia: a mitochondrial perspective Journal of Physiology. 594: 4499-4512. PMID 26921061 DOI: 10.1113/Jp271212 |
0.511 |
|
| 2016 |
Roundhill E, Turnbull D, Burchill S. Localization of MRP-1 to the outer mitochondrial membrane by the chaperone protein HSP90β. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 30: 1712-23. PMID 26722004 DOI: 10.1096/Fj.15-283408 |
0.42 |
|
| 2016 |
Sachdeva A, El-Sherif A, Turnbull D, Greaves L, Heer R. 141 Development of prostate intra-epithelial neoplasia in an aging series of PolgA mutator mice suggests a role for mitochondrial DNA mutations in prostate carcinogenesis European Urology Supplements. 15: e141. DOI: 10.1016/S1569-9056(16)60143-4 |
0.385 |
|
| 2015 |
Newman J, Galna B, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Taylor RW, Rochester L, Gorman GS. Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease. Journal of Neuromuscular Diseases. 2: 151-155. PMID 27858729 DOI: 10.3233/Jnd-140061 |
0.409 |
|
| 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 |
0.405 |
|
| 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 |
0.478 |
|
| 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 |
0.429 |
|
| 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 |
0.507 |
|
| 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 |
0.387 |
|
| 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 |
0.541 |
|
| 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 |
0.438 |
|
| 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 |
0.49 |
|
| 2015 |
Ng YS, Turnbull DM. Mitochondrial disease: genetics and management. Journal of Neurology. PMID 26315846 DOI: 10.1007/S00415-015-7884-3 |
0.509 |
|
| 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 |
0.51 |
|
| 2015 |
Hyslop L, Irving L, Richardson J, Craven L, Choudhary M, Murdoch A, Turnbull D, Herbert M. Towards therapeutic application of IVF-based techniques to prevent transmission of mtDNA disease Human Reproduction. PMID 26207012 DOI: 10.1093/Humrep/30.Supplement_1.1 |
0.313 |
|
| 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 |
0.404 |
|
| 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 |
0.453 |
|
| 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 |
0.41 |
|
| 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 |
0.507 |
|
| 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 |
0.769 |
|
| 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 |
0.499 |
|
| 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 |
0.546 |
|
| 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 |
0.536 |
|
| 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 |
0.557 |
|
| 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 |
0.382 |
|
| 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 |
0.494 |
|
| 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 |
0.501 |
|
| 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 |
0.466 |
|
| 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 |
0.356 |
|
| 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 |
0.514 |
|
| 2015 |
Shaw S, Ng YS, Whittaker R, McFarland R, Turnbull D, Gorman G, Schaefer A. A CLINICAL AUDIT OF ACUTE MANAGEMENT OF STROKE-LIKE EPISODES FROM A NATIONAL MITOCHONDRIAL DISEASE CENTRE Journal of Neurology, Neurosurgery & Psychiatry. 86: e4.161-e4. DOI: 10.1136/Jnnp-2015-312379.69 |
0.347 |
|
| 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 |
0.51 |
|
| 2015 |
Yu-Wai-Man P, Gorman GS, Schaefer AM, Grady JP, Ng Y, Chinnery PF, Taylor RW, McFarland R, Turnbull DM. The prevalence of mitochondrial disease in the adult population Mitochondrion. 24: S16-S17. DOI: 10.1016/J.Mito.2015.07.051 |
0.418 |
|
| 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 |
0.474 |
|
| 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 |
0.506 |
|
| 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 |
0.495 |
|
| 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 |
0.483 |
|
| 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 |
0.459 |
|
| 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 |
0.43 |
|
| 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 |
0.43 |
|
| 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 |
0.545 |
|
| 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 |
0.514 |
|
| 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 |
0.563 |
|
| 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 |
0.411 |
|
| 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 |
0.527 |
|
| 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 |
0.527 |
|
| 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 |
0.318 |
|
| 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 |
0.51 |
|
| 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 |
0.454 |
|
| 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 |
0.508 |
|
| 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 |
0.439 |
|
| 2014 |
Ng YS, Lax N, Schaefer A, Radunovic A, Ralph M, Alhakim A, Taylor R, Turnbull D, McFarland R, Gorman G. SUDDEN UNEXPECTED DEATH IN ADULTS WITH M. 3243A>G MUTATION Journal of Neurology, Neurosurgery & Psychiatry. 85: e4.215-e4. DOI: 10.1136/Jnnp-2014-309236.99 |
0.404 |
|
| 2014 |
Ng Y, Alston C, Horvath R, Farrugia M, Chinnery P, Turnbull D, Taylor R, McFarland R, Schaefer A, Gorman G. A GENETIC WEAKNESS—PHOENICIAN LEGACY OR CELTIC HERITAGE? Journal of Neurology, Neurosurgery & Psychiatry. 85: e4.89-e4. DOI: 10.1136/Jnnp-2014-309236.179 |
0.556 |
|
| 2014 |
Vincent A, Murphy J, Barresi R, Taylor R, Turnbull D. P28 Investigating mitochondrial dysfunction in the myofibrillar and other protein aggregate myopathies Neuromuscular Disorders. 24: S14. DOI: 10.1016/S0960-8966(14)70044-6 |
0.309 |
|
| 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 |
0.384 |
|
| 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 |
0.459 |
|
| 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 |
0.521 |
|
| 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 |
0.337 |
|
| 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 |
0.463 |
|
| 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 |
0.438 |
|
| 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 |
0.522 |
|
| 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 |
0.389 |
|
| 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 |
0.516 |
|
| 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 |
0.496 |
|
| 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 |
0.528 |
|
| 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 |
0.39 |
|
| 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 |
0.346 |
|
| 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 |
0.387 |
|
| 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 |
0.462 |
|
| 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 |
0.386 |
|
| 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 |
0.425 |
|
| 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 |
0.476 |
|
| 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 |
0.534 |
|
| 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 |
0.49 |
|
| 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: 10.1093/ehjci/jes226 |
0.408 |
|
| 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 |
0.451 |
|
| 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 |
0.432 |
|
| 2013 |
Jones K, Whittaker R, Miller J, Jakovljevic D, Turnbull D, Gorman G. THE EFFECTS OF HIGH INTENSITY INTERVAL TRAINING ON CLINICAL SYMPTOMS AND FUNCTIONAL CAPACITY IN ADULTS WITH NEUROMUSCULAR DISEASE Journal of Neurology, Neurosurgery & Psychiatry. 84: e2.118-e2. DOI: 10.1136/Jnnp-2013-306573.204 |
0.363 |
|
| 2013 |
Newman J, Galna B, Jakovljevic D, Bates M, Schaefer A, McFarland R, Turnbull D, Trenell M, Rochester L, Gorman G. EVALUATION OF FUNCTIONAL OUTCOME MEASURES AS A SURROGATE MARKER OF DISEASE SEVERITY IN PATIENTS WITH MITOCHONDRIAL DISEASE Journal of Neurology, Neurosurgery & Psychiatry. 84: e2.111-e2. DOI: 10.1136/Jnnp-2013-306573.199 |
0.426 |
|
| 2013 |
Moore H, Kelly T, Trenell M, Deary I, Turnbull D, Gorman G. PROGRESSIVE COGNITIVE DIFFICULTIES IN ADULT PATIENTS WITH MITOCHONDRIAL DISEASE Journal of Neurology, Neurosurgery & Psychiatry. 84: e2.43-e2. DOI: 10.1136/Jnnp-2013-306573.137 |
0.41 |
|
| 2013 |
Nesbitt V, Pitceathly R, Cockell S, Poulton J, Rahman S, Hanna M, Taylor R, Chinnery P, Turnbull D, McFarland R. THE MEDICAL RESEARCH COUNCIL NEUROMUSCULAR CENTRE FOR TRANSLATIONAL RESEARCH MITOCHONDRIAL DISEASE PATIENT COHORT STUDY UK: FROM CONCEPTUALISATION TO UTILISATION Journal of Neurology, Neurosurgery & Psychiatry. 84: e2.188-e2. DOI: 10.1016/S0960-8966(12)70071-8 |
0.375 |
|
| 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 |
0.418 |
|
| 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 |
0.5 |
|
| 2012 |
Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TB, Turnbull DM. Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations. Plos Genetics. 8: e1003082. PMID 23166522 DOI: 10.1371/Journal.Pgen.1003082 |
0.482 |
|
| 2012 |
Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, ... ... Turnbull DM, et al. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain : a Journal of Neurology. 135: 3392-403. PMID 23107649 DOI: 10.1093/Brain/Aws231 |
0.552 |
|
| 2012 |
Yu-Wai-Man P, Gorman GS, Taylor RW, Turnbull DM. Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. The British Journal of Ophthalmology. 96: 1536. PMID 23024221 DOI: 10.1136/Bjophthalmol-2012-302566 |
0.449 |
|
| 2012 |
Bates MG, Bourke JP, Giordano C, d'Amati G, Turnbull DM, Taylor RW. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. European Heart Journal. 33: 3023-33. PMID 22936362 DOI: 10.1093/Eurheartj/Ehs275 |
0.521 |
|
| 2012 |
Campbell GR, Kraytsberg Y, Krishnan KJ, Ohno N, Ziabreva I, Reeve A, Trapp BD, Newcombe J, Reynolds R, Lassmann H, Khrapko K, Turnbull DM, Mahad DJ. Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis. Acta Neuropathologica. 124: 209-20. PMID 22688405 DOI: 10.1007/S00401-012-1001-9 |
0.348 |
|
| 2012 |
Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy. Neuromuscular Disorders : Nmd. 22: 690-8. PMID 22647770 DOI: 10.1016/J.Nmd.2012.04.003 |
0.469 |
|
| 2012 |
Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM. Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. Brain : a Journal of Neurology. 135: 1736-50. PMID 22577219 DOI: 10.1093/Brain/Aws110 |
0.527 |
|
| 2012 |
Campbell GR, Ohno N, Turnbull DM, Mahad DJ. Mitochondrial changes within axons in multiple sclerosis: An update Current Opinion in Neurology. 25: 221-230. PMID 22543429 DOI: 10.1097/Wco.0B013E3283533A25 |
0.337 |
|
| 2012 |
Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. The Cochrane Database of Systematic Reviews. 4: CD004426. PMID 22513923 DOI: 10.1002/14651858.Cd004426.Pub3 |
0.389 |
|
| 2012 |
Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, MacGowan GA, Blamire AM, Chinnery PF. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load. Neuromuscular Disorders : Nmd. 22: 592-6. PMID 22513320 DOI: 10.1016/J.Nmd.2012.03.001 |
0.435 |
|
| 2012 |
Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ. Loss of myelin-associated glycoprotein in kearns-sayre syndrome. Archives of Neurology. 69: 490-9. PMID 22491194 DOI: 10.1001/Archneurol.2011.2167 |
0.479 |
|
| 2012 |
Reeve AK, Park TK, Jaros E, Campbell GR, Lax NZ, Hepplewhite PD, Krishnan KJ, Elson JL, Morris CM, McKeith IG, Turnbull DM. Relationship between mitochondria and α-synuclein: a study of single substantia nigra neurons. Archives of Neurology. 69: 385-93. PMID 22410447 DOI: 10.1001/Archneurol.2011.2675 |
0.419 |
|
| 2012 |
Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Analysis of mitochondrial DNA mutations : point mutations. Methods in Molecular Medicine. 38: 265-77. PMID 22351281 DOI: 10.1385/1-59259-070-5:265 |
0.52 |
|
| 2012 |
Taylor RW, Wardell TM, Blakely EL, Borthwick GM, Brierley EJ, Turnbull DM. Analysis of mitochondrial DNA mutations : deletions. Methods in Molecular Medicine. 38: 245-64. PMID 22351280 DOI: 10.1385/1-59259-070-5:245 |
0.516 |
|
| 2012 |
Read JL, Whittaker RG, Miller N, Clark S, Taylor R, McFarland R, Turnbull D. Prevalence and severity of voice and swallowing difficulties in mitochondrial disease. International Journal of Language & Communication Disorders / Royal College of Speech & Language Therapists. 47: 106-11. PMID 22268906 DOI: 10.1111/J.1460-6984.2011.00072.X |
0.435 |
|
| 2012 |
van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics : Ejhg. 20: 650-6. PMID 22258525 DOI: 10.1038/Ejhg.2011.262 |
0.519 |
|
| 2012 |
Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM. Cerebellar ataxia in patients with mitochondrial DNA disease: A molecular clinicopathological study Journal of Neuropathology and Experimental Neurology. 71: 148-161. PMID 22249460 DOI: 10.1097/Nen.0B013E318244477D |
0.443 |
|
| 2012 |
Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. Brain : a Journal of Neurology. 135: 62-71. PMID 22189570 DOI: 10.1093/Brain/Awr326 |
0.544 |
|
| 2012 |
Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. Mitochondrion. 12: 313-9. PMID 22155748 DOI: 10.1016/J.Mito.2011.11.006 |
0.453 |
|
| 2012 |
Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and disease Journal of Pathology. 226: 274-286. PMID 21989606 DOI: 10.1002/path.3028 |
0.55 |
|
| 2012 |
Krishnan KJ, Ratnaike TE, De Gruyter HLM, Jaros E, Turnbull DM. Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease Neurobiology of Aging. 33: 2210-2214. PMID 21925769 DOI: 10.1016/J.Neurobiolaging.2011.08.009 |
0.465 |
|
| 2012 |
Elstner M, Turnbull DM. Transcriptome analysis in mitochondrial disorders. Brain Research Bulletin. 88: 285-93. PMID 21856382 DOI: 10.1016/J.Brainresbull.2011.07.018 |
0.505 |
|
| 2012 |
Picard DM, Lax N, Ratnaike T, Juster R, Turnbull DM. Mitochondrial allostatic load? The combined effect of glucose intolerance and mitochondrial DNA mutations on the incidence of neurological symptoms European Journal of Psychotraumatology. 3. DOI: 10.3402/Ejpt.V3I0.19421 |
0.49 |
|
| 2012 |
Pfeffer G, Thorburn D, Turnbull D, Majamaa K, Chinnery PF. 101 Systematic review of controlled trials in the treatment of mitochondrial disorders Journal of Neurology, Neurosurgery & Psychiatry. 83: e1.50-e1. DOI: 10.1136/Jnnp-2011-301993.143 |
0.361 |
|
| 2012 |
Tuppen HAL, Herbert M, Turnbull DM. The legacy ofmitochondrial DNA Biology and Pathology of the Oocyte: Role in Fertility, Medicine, and Nuclear Reprogramming, Second Edition. 306-317. DOI: 10.1017/CBO9781139135030.027 |
0.359 |
|
| 2012 |
Irving L, Craven L, Alston C, Byerley S, Taylor R, Herbert M, Turnbull D. PP-41 DETERMINATION OF MUTATION LOADS IN PREIMPLANTATION EMBRYOS TO ASSESS THE EFFECTIVENESS OF PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR MITOCHONDRIAL DNA (MTDNA) INHERITED DISORDERS Reproductive Biomedicine Online. 24: S20. DOI: 10.1016/S1472-6483(12)60172-2 |
0.47 |
|
| 2012 |
Ratnaike T, Murphy J, Krishnan K, Taylor R, Turnbull D. P66 Changes in mitochondrial function over time and with exercise in patients with mitochondrial disease Neuromuscular Disorders. 22: S25. DOI: 10.1016/S0960-8966(12)70074-3 |
0.36 |
|
| 2012 |
Piceathly RDS, Smith C, Fratter C, Blakely EL, Alston CL, Deschauer M, Horvath R, Hanna MG, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease Neuromuscular Disorders. 22. DOI: 10.1016/S0960-8966(12)70068-8 |
0.453 |
|
| 2012 |
Craven L, Irving L, Herbert M, Turnbull D. P57 Development of the Pronuclear Transfer Technique to Prevent Transmission of Mitochondrial DNA Disease in Humans Neuromuscular Disorders. 22: S22. DOI: 10.1016/S0960-8966(12)70065-2 |
0.424 |
|
| 2012 |
Campbell G, Krishnan K, Taylor R, Turnbull D. P56 Mitochondrial DNA deletions do not have a replicative advantage in human muscle Neuromuscular Disorders. 22: S22. DOI: 10.1016/S0960-8966(12)70064-0 |
0.34 |
|
| 2012 |
Bates M, Hollingsworth K, Taylor R, Turnbull D, Trenell MI. CONCENTRIC REMODELING AND INCREASED MYOCARDIAL TORSION IN MITOCHONDRIAL DNA POINT MUTATION CARRIERS Journal of the American College of Cardiology. 59: E1557. DOI: 10.1016/S0735-1097(12)61558-7 |
0.459 |
|
| 2012 |
Krishnan KJ, Nelson G, Romero NB, Ratnaike T, Blakely EL, Ziyadeh-Isleem A, Miller J, Murphy JL, Horvath R, Lochmuller H, Flanigan K, Turnbull DM, Guicheney P, Bitoun M, Taylor RW. C.O.2 DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance Neuromuscular Disorders. 22: 839. DOI: 10.1016/J.Nmd.2012.06.124 |
0.569 |
|
| 2012 |
Reeve AK, Krishnan KJ, Duchen MR, Turnbull DM. Mitochondrial dysfunction in neurodegenerative disorders Mitochondrial Dysfunction in Neurodegenerative Disorders. 1-230. DOI: 10.1007/978-0-85729-701-3 |
0.376 |
|
| 2011 |
Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease in pregnancy: a systematic review. Obstetric Medicine. 4: 90-4. PMID 27579099 DOI: 10.1258/Om.2011.110008 |
0.439 |
|
| 2011 |
Elstner M, Müller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender A. Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions. Molecular Brain. 4: 43. PMID 22188897 DOI: 10.1186/1756-6606-4-43 |
0.393 |
|
| 2011 |
Lax NZ, Turnbull DM, Reeve AK. Mitochondrial mutations: Newly discovered players in neuronal degeneration Neuroscientist. 17: 645-658. PMID 22130639 DOI: 10.1177/1073858411385469 |
0.544 |
|
| 2011 |
Greaves LC, Barron MJ, Campbell-Shiel G, Kirkwood TB, Turnbull DM. Differences in the accumulation of mitochondrial defects with age in mice and humans. Mechanisms of Ageing and Development. 132: 588-91. PMID 22015485 DOI: 10.1016/J.Mad.2011.10.004 |
0.414 |
|
| 2011 |
Blackwood JK, Williamson SC, Greaves LC, Wilson L, Rigas AC, Sandher R, Pickard RS, Robson CN, Turnbull DM, Taylor RW, Heer R. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells. The Journal of Pathology. 225: 181-8. PMID 21898876 DOI: 10.1002/Path.2965 |
0.372 |
|
| 2011 |
Craven L, Elson JL, Irving L, Tuppen HA, Lister LM, Greggains GD, Byerley S, Murdoch AP, Herbert M, Turnbull D. Mitochondrial DNA disease: new options for prevention. Human Molecular Genetics. 20: R168-74. PMID 21852248 DOI: 10.1093/Hmg/Ddr373 |
0.408 |
|
| 2011 |
Turnbull D. A new biomarker for mitochondrial disease. The Lancet. Neurology. 10: 777-8. PMID 21820357 DOI: 10.1016/S1474-4422(11)70172-7 |
0.462 |
|
| 2011 |
Apabhai S, Gorman GS, Sutton L, Elson JL, Plötz T, Turnbull DM, Trenell MI. Habitual physical activity in mitochondrial disease. Plos One. 6: e22294. PMID 21799815 DOI: 10.1371/Journal.Pone.0022294 |
0.485 |
|
| 2011 |
Alston CL, He L, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Maternally inherited mitochondrial DNA disease in consanguineous families. European Journal of Human Genetics : Ejhg. 19: 1226-9. PMID 21712854 DOI: 10.1038/Ejhg.2011.124 |
0.548 |
|
| 2011 |
Zambonin JL, Zhao C, Ohno N, Campbell GR, Engeham S, Ziabreva I, Schwarz N, Lee SE, Frischer JM, Turnbull DM, Trapp BD, Lassmann H, Franklin RJ, Mahad DJ. Increased mitochondrial content in remyelinated axons: implications for multiple sclerosis. Brain : a Journal of Neurology. 134: 1901-13. PMID 21705418 DOI: 10.1093/Brain/Awr110 |
0.302 |
|
| 2011 |
Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, et al. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene Journal of Neurology. 258: 1987-1997. PMID 21544567 DOI: 10.1007/S00415-011-6055-4 |
0.387 |
|
| 2011 |
Elstner M, Morris CM, Heim K, Bender A, Mehta D, Jaros E, Klopstock T, Meitinger T, Turnbull DM, Prokisch H. Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death. Acta Neuropathologica. 122: 75-86. PMID 21541762 DOI: 10.1007/S00401-011-0828-9 |
0.345 |
|
| 2011 |
Campbell GR, Ziabreva I, Reeve AK, Krishnan KJ, Reynolds R, Howell O, Lassmann H, Turnbull DM, Mahad DJ. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Annals of Neurology. 69: 481-92. PMID 21446022 DOI: 10.1002/Ana.22109 |
0.41 |
|
| 2011 |
Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European Journal of Human Genetics : Ejhg. 19: 769-75. PMID 21364701 DOI: 10.1038/Ejhg.2011.18 |
0.551 |
|
| 2011 |
Romaniuk L, Turnbull DM, Whittaker RG. Hyperventilation during the EEG is safe in mitochondrial disease. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. 122: 1270-1. PMID 21111674 DOI: 10.1016/j.clinph.2010.10.039 |
0.374 |
|
| 2011 |
Vlachantoni D, Bramall AN, Murphy MP, Taylor RW, Shu X, Tulloch B, Van Veen T, Turnbull DM, McInnes RR, Wright AF. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. Human Molecular Genetics. 20: 322-35. PMID 21051333 DOI: 10.1093/Hmg/Ddq467 |
0.354 |
|
| 2011 |
Nesbitt V, Whittaker RG, Turnbull DM, McFarland R, Taylor RW. MtDNA disease for the neurologist Future Neurology. 6: 63-80. DOI: 10.2217/Fnl.10.70 |
0.459 |
|
| 2011 |
Rygiel K, Miller J, Taylor R, Turnbull D. P73 Mitochondrial abnormalities in inclusion body myositis Neuromuscular Disorders. 21: S27-S28. DOI: 10.1016/S0960-8966(11)70092-X |
0.317 |
|
| 2011 |
Spendiff S, Horvath R, Lochmüller H, Reza M, Murphy J, Taylor R, Turnbull D. P57 Mitochondrial DNA mutations in satellite cells Neuromuscular Disorders. 21: S22. DOI: 10.1016/S0960-8966(11)70076-1 |
0.486 |
|
| 2011 |
Ratnaike T, Krishnan K, Taylor R, Turnbull D. P56 Why does mitochondrial disease progress? From molecular genetics to patient phenotype Neuromuscular Disorders. 21: S22. DOI: 10.1016/S0960-8966(11)70075-X |
0.452 |
|
| 2011 |
Irving L, Alston C, Craven L, Herbert M, Turnbull D. P48 Analysis of mitochondrial DNA mutant loads in oocytes & preimplantation embryos for the 14709T>C & 14487T>C mtDNA mutations by pyrosequencing Neuromuscular Disorders. 21: S19-S20. DOI: 10.1016/S0960-8966(11)70067-0 |
0.404 |
|
| 2011 |
Lax NZ, Reeve AK, Hepplewhite P, Alston C, Jaros E, Taylor RW, Turnbull DM. Degeneration of olivo-cerebellar circuitry in patients with mitochondrial disease: A neuropathological study Mitochondrion. 11: 672. DOI: 10.1016/J.Mito.2011.03.106 |
0.491 |
|
| 2011 |
Lax NZ, Reeve AK, Hepplewhite P, Jaros E, Taylor RW, Turnbull DM. Sensory nerve cell dysfunction contributes to peripheral neuropathy in mitochondrial disease Mitochondrion. 11: 671-672. DOI: 10.1016/J.Mito.2011.03.104 |
0.402 |
|
| 2011 |
Lax NZ, Reeve AK, Hepplewhite P, Jaros E, Taylor RW, Turnbull DM. Vascular pathology in mitochondrial disease Mitochondrion. 11: 654-655. DOI: 10.1016/J.Mito.2011.03.060 |
0.462 |
|
| 2010 |
Young TM, Blakely EL, Swalwell H, Carter JE, Kartsounis LD, O'Donovan DG, Turnbull DM, Taylor RW, de Silva RN. Mitochondrial transfer RNA(Phe) mutation associated with a progressive neurodegenerative disorder characterized by psychiatric disturbance, dementia, and akinesia-rigidity. Archives of Neurology. 67: 1399-402. PMID 21060018 DOI: 10.1001/Archneurol.2010.283 |
0.537 |
|
| 2010 |
Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW. A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. Journal of the Neurological Sciences. 298: 140-4. PMID 20810132 DOI: 10.1016/J.Jns.2010.08.014 |
0.549 |
|
| 2010 |
McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. The Lancet. Neurology. 9: 829-40. PMID 20650404 DOI: 10.1016/S1474-4422(10)70116-2 |
0.539 |
|
| 2010 |
Krishnan KJ, Turnbull DM. Mitochondrial DNA and genetic disease Essays in Biochemistry. 47: 139-151. PMID 20533905 DOI: 10.1042/Bse0470139 |
0.53 |
|
| 2010 |
Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, ... ... Turnbull DM, et al. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology. 74: 1619-26. PMID 20479361 DOI: 10.1212/Wnl.0B013E3181Df099F |
0.493 |
|
| 2010 |
Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Molecular Genetics and Metabolism. 100: 345-8. PMID 20472482 DOI: 10.1016/J.Ymgme.2010.04.010 |
0.479 |
|
| 2010 |
Pohjoismäki JL, Goffart S, Taylor RW, Turnbull DM, Suomalainen A, Jacobs HT, Karhunen PJ. Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number. Plos One. 5: e10426. PMID 20454654 DOI: 10.1371/journal.pone.0010426 |
0.367 |
|
| 2010 |
Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature. 465: 82-5. PMID 20393463 DOI: 10.1038/Nature08958 |
0.479 |
|
| 2010 |
Krishnan KJ, Blackwood JK, Reeve AK, Turnbull DM, Taylor RW. Detection of mitochondrial DNA variation in human cells. Methods in Molecular Biology (Clifton, N.J.). 628: 227-57. PMID 20238085 DOI: 10.1007/978-1-60327-367-1_13 |
0.532 |
|
| 2010 |
Trevelyan AJ, Kirby DM, Smulders-Srinivasan TK, Nooteboom M, Acin-Perez R, Enriquez JA, Whittington MA, Lightowlers RN, Turnbull DM. Mitochondrial DNA mutations affect calcium handling in differentiated neurons. Brain : a Journal of Neurology. 133: 787-96. PMID 20207702 DOI: 10.1093/Brain/Awq023 |
0.394 |
|
| 2010 |
Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells. Biochemical and Biophysical Research Communications. 393: 740-5. PMID 20171163 DOI: 10.1016/J.Bbrc.2010.02.072 |
0.484 |
|
| 2010 |
Greaves LC, Yu-Wai-Man P, Blakely EL, Krishnan KJ, Beadle NE, Kerin J, Barron MJ, Griffiths PG, Dickinson AJ, Turnbull DM, Taylor RW. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO. Investigative Ophthalmology & Visual Science. 51: 3340-6. PMID 20164463 DOI: 10.1167/Iovs.09-4659 |
0.466 |
|
| 2010 |
Yu-Wai-Man P, Lai-Cheong J, Borthwick GM, He L, Taylor GA, Greaves LC, Taylor RW, Griffiths PG, Turnbull DM. Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles. Investigative Ophthalmology & Visual Science. 51: 3347-53. PMID 20164450 DOI: 10.1167/Iovs.09-4660 |
0.509 |
|
| 2010 |
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, ... ... Turnbull DM, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain : a Journal of Neurology. 133: 771-86. PMID 20157015 DOI: 10.1093/Brain/Awq007 |
0.455 |
|
| 2010 |
Abramov AY, Smulders-Srinivasan TK, Kirby DM, Acin-Perez R, Enriquez JA, Lightowlers RN, Duchen MR, Turnbull DM. Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain : a Journal of Neurology. 133: 797-807. PMID 20157008 DOI: 10.1093/Brain/Awq015 |
0.502 |
|
| 2010 |
Greaves LC, Barron MJ, Plusa S, Kirkwood TB, Mathers JC, Taylor RW, Turnbull DM. Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts. Experimental Gerontology. 45: 573-9. PMID 20096767 DOI: 10.1016/J.Exger.2010.01.013 |
0.467 |
|
| 2010 |
Nooteboom M, Johnson R, Taylor RW, Wright NA, Lightowlers RN, Kirkwood TBL, Mathers JC, Turnbull DM, Greaves LC. Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts Aging Cell. 9: 96-99. PMID 19878146 DOI: 10.1111/J.1474-9726.2009.00531.X |
0.476 |
|
| 2010 |
Tuppen HA, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease. Biochimica Et Biophysica Acta. 1797: 113-28. PMID 19761752 DOI: 10.1016/J.Bbabio.2009.09.005 |
0.562 |
|
| 2010 |
Turnbull HE, Lax NZ, Diodato D, Ansorge O, Turnbull DM. The mitochondrial brain: From mitochondrial genome to neurodegeneration. Biochimica Et Biophysica Acta. 1802: 111-21. PMID 19647794 DOI: 10.1016/J.Bbadis.2009.07.010 |
0.503 |
|
| 2010 |
Pitceathly R, McFarland R, Nesbitt V, Rahman S, Hanna MG, Turnbull DM. PORT03 MRC mitochondrial cohort study: development of a UK database Journal of Neurology, Neurosurgery & Psychiatry. 81: e66-e66. DOI: 10.1136/jnnp.2010.226340.198 |
0.376 |
|
| 2010 |
Gorman G, Apabhai S, Elson JL, Trenell MI, Turnbull DM. POG05 Habitual physical activity in mitochondrial disease--do we need to intervene? Journal of Neurology, Neurosurgery & Psychiatry. 81: e49-e49. DOI: 10.1136/jnnp.2010.226340.127 |
0.335 |
|
| 2010 |
Gorman G, Apabhai S, Elson J, Turnbull D, Trenell M. P78 Habitual physical activity in mitochondrial disease – do we need to intervene? Neuromuscular Disorders. 20: S26. DOI: 10.1016/S0960-8966(10)70093-6 |
0.306 |
|
| 2010 |
Spendiff S, Horvath R, Murphy J, Taylor R, Reza M, Lochmüller H, Turnbull D. P74 Finding the missing gap – mitochondrial DNA deletions in muscle stem cells Neuromuscular Disorders. 20: S25. DOI: 10.1016/S0960-8966(10)70089-4 |
0.329 |
|
| 2010 |
Pitceathly R, Nesbitt V, Rahman S, McFarland R, Hanna M, Turnbull D. P69 MRC mitochondrial cohort study: development of a UK database Neuromuscular Disorders. 20: S23. DOI: 10.1016/S0960-8966(10)70084-5 |
0.333 |
|
| 2010 |
Alston C, Lowe J, Turnbull D, Maddison P, Taylor R. P4.59 A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis Neuromuscular Disorders. 20: 676. DOI: 10.1016/J.Nmd.2010.07.255 |
0.483 |
|
| 2010 |
Hicks D, Sarkozy A, Muelas N, Huebner A, Hudson G, Barresi R, Miller J, Gowers J, Hughes PJ, Roberts R, Turnbull D, Krause S, Walter M, Laval S, Straub V, et al. P1.24 Mutations in ANO5 represent a common cause of non-dysferlin LGMD2B and Miyoshi myopathy Neuromuscular Disorders. 20: 607-607. DOI: 10.1016/J.Nmd.2010.07.039 |
0.34 |
|
| 2010 |
Elson J, Swalwell H, McFarland R, Taylor R, Turnbull D. Mitochondrial tRNA mutations – which can be inherited and why? New Biotechnology. 27: S83. DOI: 10.1016/J.Nbt.2010.01.232 |
0.525 |
|
| 2009 |
Al-Dosary M, Whittaker RG, Haughton J, McFarland R, Goodship J, Turnbull DM, Taylor RW. Neuromuscular disease presentation with three genetic defects involving two genomes. Neuromuscular Disorders : Nmd. 19: 841-4. PMID 19853445 DOI: 10.1016/J.Nmd.2009.10.001 |
0.521 |
|
| 2009 |
Ogundare O, Jumma O, Turnbull DM, Woywodt A. Searching for the needle in the Haystacks. Lancet (London, England). 374: 850. PMID 19733782 DOI: 10.1016/S0140-6736(09)61032-1 |
0.392 |
|
| 2009 |
Mahad DJ, Ziabreva I, Campbell G, Laulund F, Murphy JL, Reeve AK, Greaves L, Smith KJ, Turnbull DM. Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells Journal of Neuroscience Methods. 184: 310-319. PMID 19723540 DOI: 10.1016/J.Jneumeth.2009.08.020 |
0.472 |
|
| 2009 |
Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Pathogenic mitochondrial tRNA mutations - Which mutations are inherited and why? Human Mutation. 30: E984-E992. PMID 19718780 DOI: 10.1002/Humu.21113 |
0.483 |
|
| 2009 |
Greaves LC, Beadle NE, Taylor GA, Commane D, Mathers JC, Khrapko K, Turnbull DM. Quantification of mitochondrial DNA mutation load. Aging Cell. 8: 566-72. PMID 19624578 DOI: 10.1111/J.1474-9726.2009.00505.X |
0.447 |
|
| 2009 |
O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW. Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation. Muscle & Nerve. 40: 648-51. PMID 19618438 DOI: 10.1002/Mus.21342 |
0.499 |
|
| 2009 |
Kirby DM, Rennie KJ, Smulders-Srinivasan TK, Acin-Perez R, Whittington M, Enriquez JA, Trevelyan AJ, Turnbull DM, Lightowlers RN. Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation. Cell Proliferation. 42: 413-24. PMID 19552636 DOI: 10.1111/J.1365-2184.2009.00612.X |
0.425 |
|
| 2009 |
Reeve AK, Krishnan KJ, Taylor G, Elson JL, Bender A, Taylor RW, Morris CM, Turnbull DM. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons Aging Cell. 8: 496-498. PMID 19489744 DOI: 10.1111/J.1474-9726.2009.00492.X |
0.487 |
|
| 2009 |
Greaves LC, Mathers JC, Taylor RW, Turnbull DM. Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: link to colon cancer? Proceedings of the National Academy of Sciences of the United States of America. 106: E57. PMID 19447926 DOI: 10.1073/Pnas.0903000106 |
0.482 |
|
| 2009 |
Kraytsberg Y, Simon DK, Turnbull DM, Khrapko K. Do mtDNA deletions drive premature aging in mtDNA mutator mice? Aging Cell. 8: 502-6. PMID 19416127 DOI: 10.1111/j.1474-9726.2009.00484.x |
0.317 |
|
| 2009 |
Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM. Clinical reasoning: Blurred vision and dancing feet: Restless legs syndrome presenting in mitochondrial disease Neurology. 72. PMID 19414717 DOI: 10.1212/Wnl.0B013E3181A411B8 |
0.317 |
|
| 2009 |
Greaves LC, Turnbull DM. Mitochondrial DNA mutations and ageing Biochimica Et Biophysica Acta - General Subjects. 1790: 1015-1020. PMID 19409965 DOI: 10.1016/J.Bbagen.2009.04.018 |
0.439 |
|
| 2009 |
Fellous TG, Islam S, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Taylor G, McDonald SA, Wright NA, Alison MR. Locating the stem cell niche and tracing hepatocyte lineages in human liver. Hepatology (Baltimore, Md.). 49: 1655-63. PMID 19309719 DOI: 10.1002/hep.22791 |
0.332 |
|
| 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 |
0.346 |
|
| 2009 |
Blakely EL, Trip SA, Swalwell H, He L, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. Archives of Neurology. 66: 399-402. PMID 19273760 DOI: 10.1001/Archneurol.2008.576 |
0.468 |
|
| 2009 |
Stewart JD, Tennant S, Powell H, Pyle A, Blakely EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AA, Roxburgh R, ... ... Turnbull DM, et al. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Journal of Medical Genetics. 46: 209-14. PMID 19251978 DOI: 10.1136/Jmg.2008.058180 |
0.538 |
|
| 2009 |
Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation. Neurology. 72: 568-9. PMID 19204268 DOI: 10.1212/01.Wnl.0000342121.91336.4D |
0.439 |
|
| 2009 |
McFarland R, Turnbull DM. Batteries not included: Diagnosis and management of mitochondrial disease Journal of Internal Medicine. 265: 210-228. PMID 19192037 DOI: 10.1111/J.1365-2796.2008.02066.X |
0.534 |
|
| 2009 |
Betts-Henderson J, Jaros E, Krishnan KJ, Perry RH, Reeve AK, Schaefer AM, Taylor RW, Turnbull DM. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathology and Applied Neurobiology. 35: 120-4. PMID 19187065 DOI: 10.1111/J.1365-2990.2008.00981.X |
0.362 |
|
| 2009 |
Gutierrez-Gonzalez L, Deheragoda M, Elia G, Leedham SJ, Shankar A, Imber C, Jankowski JA, Turnbull DM, Novelli M, Wright NA, McDonald SA. 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. The Journal of Pathology. 217: 489-96. PMID 19156773 DOI: 10.1002/Path.2502 |
0.403 |
|
| 2009 |
Whittaker RG, Turnbull DM. A diagnostic tattoo. Clinical Genetics. 75: 37-8. PMID 19128396 DOI: 10.1111/J.1399-0004.2008.01103.X |
0.34 |
|
| 2009 |
Smeitink JA, Zeviani M, Turnbull DM, Jacobs HT. Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. Cell Metabolism. 3: 9-13. PMID 16399500 DOI: 10.1016/J.Cmet.2005.12.001 |
0.446 |
|
| 2009 |
Al-Dosary M, Whittaker R, Hood J, McFarland R, Goodship JA, Turnbull DM, Taylor RW. G.P.3.06 Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation Neuromuscular Disorders. 19: 563-563. DOI: 10.1016/J.Nmd.2009.06.064 |
0.481 |
|
| 2009 |
Fratter C, Gorman G, Stewart J, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna M, Rahman S, Omer S, Klopstock T, Schoser B, Kornblum C, ... ... Turnbull D, et al. Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients Neuromuscular Disorders. 19: 562-562. DOI: 10.1016/J.Nmd.2009.06.062 |
0.359 |
|
| 2008 |
Reeve AK, Krishnan KJ, Turnbull D. Mitochondrial DNA mutations in disease, aging, and neurodegeneration. Annals of the New York Academy of Sciences. 1147: 21-29. PMID 19076427 DOI: 10.1196/Annals.1427.016 |
0.568 |
|
| 2008 |
Stewart JD, Hudson G, Yu-Wai-Man P, Blakeley EL, He L, Horvath R, Maddison P, Wright A, Griffiths PG, Turnbull DM, Taylor RW, Chinnery PF. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology. 71: 1829-31. PMID 19029523 DOI: 10.1212/01.wnl.0000335931.54095.0a |
0.346 |
|
| 2008 |
Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain : a Journal of Neurology. 131: 2832-40. PMID 18984605 DOI: 10.1093/Brain/Awn252 |
0.472 |
|
| 2008 |
Bender A, Schwarzkopf RM, McMillan A, Krishnan KJ, Rieder G, Neumann M, Elstner M, Turnbull DM, Klopstock T. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions Journal of Neurology. 255: 1231-1235. PMID 18604467 DOI: 10.1007/s00415-008-0892-9 |
0.302 |
|
| 2008 |
Cree LM, Patel SK, Pyle A, Lynn S, Turnbull DM, Chinnery PF, Walker M. Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets. Diabetologia. 51: 1440-3. PMID 18528676 DOI: 10.1007/S00125-008-1054-4 |
0.382 |
|
| 2008 |
Reeve AK, Krishnan KJ, Turnbull DM. Age related mitochondrial degenerative disorders in humans Biotechnology Journal. 3: 750-756. PMID 18512864 DOI: 10.1002/Biot.200800066 |
0.543 |
|
| 2008 |
Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy Neuromuscular Disorders. 18: 557-560. PMID 18508266 DOI: 10.1016/J.Nmd.2008.04.014 |
0.52 |
|
| 2008 |
Rorbach J, Yusoff AA, Tuppen H, Abg-Kamaludin DP, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, McFarland R, Lightowlers RN. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Research. 36: 3065-74. PMID 18400783 DOI: 10.1093/Nar/Gkn147 |
0.51 |
|
| 2008 |
Swalwell H, Blakely EL, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns DK, Turnbull DM, Haller RG, Davidson MM, Taylor RW. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one? European Journal of Human Genetics : Ejhg. 16: 1265-74. PMID 18398437 DOI: 10.1038/Ejhg.2008.65 |
0.455 |
|
| 2008 |
Betts J, Barron MJ, Needham SJ, Schaefer AM, Taylor RW, Turnbull DM. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology. 70: 1290-2. PMID 18391161 DOI: 10.1212/01.Wnl.0000308940.38092.74 |
0.464 |
|
| 2008 |
Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. What causes mitochondrial DNA deletions in human cells? Nature Genetics. 40: 275-9. PMID 18305478 DOI: 10.1038/Ng.F.94 |
0.526 |
|
| 2008 |
Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A>G mitochondrial point mutation Diabetic Medicine. 25: 383-399. PMID 18294221 DOI: 10.1111/J.1464-5491.2008.02359.X |
0.34 |
|
| 2008 |
McDonald SA, Greaves LC, Gutierrez-Gonzalez L, Rodriguez-Justo M, Deheragoda M, Leedham SJ, Taylor RW, Lee CY, Preston SL, Lovell M, Hunt T, Elia G, Oukrif D, Harrison R, Novelli MR, ... ... Turnbull DM, et al. Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells. Gastroenterology. 134: 500-10. PMID 18242216 DOI: 10.1053/J.Gastro.2007.11.035 |
0.359 |
|
| 2008 |
Reeve AK, Krishnan KJ, Elson JL, Morris CM, Bender A, Lightowlers RN, Turnbull DM. Nature of mitochondrial DNA deletions in substantia nigra neurons. American Journal of Human Genetics. 82: 228-35. PMID 18179904 DOI: 10.1016/J.Ajhg.2007.09.018 |
0.436 |
|
| 2008 |
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain : a Journal of Neurology. 131: 329-37. PMID 18065439 DOI: 10.1093/brain/awm272 |
0.447 |
|
| 2008 |
Brown AE, Elstner M, Yeaman SJ, Turnbull DM, Walker M. Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells? American Journal of Physiology. Endocrinology and Metabolism. 294: E97-102. PMID 17957036 DOI: 10.1152/Ajpendo.00267.2007 |
0.343 |
|
| 2008 |
Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Prevalence of mitochondrial DNA disease in adults. Annals of Neurology. 63: 35-9. PMID 17886296 DOI: 10.1002/Ana.21217 |
0.484 |
|
| 2008 |
McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KM, Taylor RW. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscular Disorders : Nmd. 18: 63-7. PMID 17825557 DOI: 10.1016/J.Nmd.2007.07.007 |
0.429 |
|
| 2008 |
Murphy J, Charlton R, Barresi R, Bushby K, Taylor R, Turnbull D. G.P.10.09 Mitochondrial dysfunction in dysferlinopathy Neuromuscular Disorders. 18: 792. DOI: 10.1016/J.Nmd.2008.06.235 |
0.433 |
|
| 2008 |
Trenell M, Apabhai S, Turnbull D. G.P.3.15 Waking the sleeping giant; habitual physical inactivity in people with mitochondrial disease Neuromuscular Disorders. 18: 756. DOI: 10.1016/J.Nmd.2008.06.112 |
0.342 |
|
| 2008 |
Schaefer A, McFarland R, Chinnery P, Taylor R, Turnbull D. Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply Annals of Neurology. DOI: 10.1002/Ana.21512 |
0.472 |
|
| 2007 |
Krishnan KJ, Reeve AK, Turnbull DM. Do mitochondrial DNA mutations have a role in neurodegenerative disease? Biochemical Society Transactions. 35: 1232-1235. PMID 17956320 DOI: 10.1042/Bst0351232 |
0.546 |
|
| 2007 |
Krishnan KJ, Greaves LC, Reeve AK, Turnbull D. The ageing mitochondrial genome. Nucleic Acids Research. 35: 7399-7405. PMID 17913753 DOI: 10.1093/Nar/Gkm635 |
0.431 |
|
| 2007 |
McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AA, Foster SM, Tuppen HA, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology. 69: 911-6. PMID 17724295 DOI: 10.1212/01.Wnl.0000267843.10977.4A |
0.55 |
|
| 2007 |
Taylor RW, Turnbull DM. Mitochondrial DNA transcription: regulating the power supply. Cell. 130: 211-3. PMID 17662933 DOI: 10.1016/J.Cell.2007.07.002 |
0.428 |
|
| 2007 |
Krishnan KJ, Bender A, Taylor RW, Turnbull DM. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Analytical Biochemistry. 370: 127-9. PMID 17662684 DOI: 10.1016/J.Ab.2007.06.024 |
0.41 |
|
| 2007 |
Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia. 50: 2085-9. PMID 17653689 DOI: 10.1007/S00125-007-0779-9 |
0.372 |
|
| 2007 |
Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain : a Journal of Neurology. 130: 2045-54. PMID 17584774 DOI: 10.1093/Brain/Awm135 |
0.463 |
|
| 2007 |
Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone? Diabetes Care. 30: 2238-9. PMID 17540956 DOI: 10.2337/Dc07-0466 |
0.45 |
|
| 2007 |
Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. MELAS associated with mutations in the POLG1 gene. Neurology. 68: 1741-2. PMID 17502560 DOI: 10.1212/01.Wnl.0000261929.92478.3E |
0.527 |
|
| 2007 |
Gardner JL, Craven L, Turnbull DM, Taylor RW. Experimental strategies towards treating mitochondrial DNA disorders Bioscience Reports. 27: 139-150. PMID 17492502 DOI: 10.1007/S10540-007-9042-3 |
0.526 |
|
| 2007 |
Elson JL, Turnbull DM, Taylor RW. Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach. The Biochemical Journal. 404: e3-5. PMID 17488234 DOI: 10.1042/Bj20070524 |
0.45 |
|
| 2007 |
Krishnan KJ, Greaves LC, Reeve AK, Turnbull DM. Mitochondrial DNA mutations and aging. Annals of the New York Academy of Sciences. 1100: 227-40. PMID 17460184 DOI: 10.1196/Annals.1395.024 |
0.478 |
|
| 2007 |
Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods in Cell Biology. 80: 93-119. PMID 17445690 DOI: 10.1016/S0091-679X(06)80004-X |
0.362 |
|
| 2007 |
Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. Archives of Neurology. 64: 553-7. PMID 17420318 DOI: 10.1001/Archneur.64.4.553 |
0.425 |
|
| 2007 |
Blakely EL, Swalwell H, Petty RK, McFarland R, Turnbull DM, Taylor RW. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. Journal of Neurology. 254: 1283-5. PMID 17410322 DOI: 10.1007/S00415-006-0490-7 |
0.446 |
|
| 2007 |
Phoenix C, Taylor GA, Hartley J, Nixon H, Ince PG, Shaw PJ, Turnbull DM, Taylor RW. Investigation of the mitochondrial genome in patients with atypical motor neuron disease. Journal of Neurology. 254: 482-7. PMID 17401521 DOI: 10.1007/S00415-006-0399-1 |
0.539 |
|
| 2007 |
Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H. An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 11: 381-4. PMID 17395506 DOI: 10.1016/J.Ejpn.2007.01.010 |
0.432 |
|
| 2007 |
Whittaker RG, Schaefer AM, Taylor RW, Turnbull DM. Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia? Journal of Neurology. 254: 1138-9. PMID 17361341 DOI: 10.1007/S00415-006-0484-5 |
0.463 |
|
| 2007 |
McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease--its impact, etiology, and pathology. Current Topics in Developmental Biology. 77: 113-55. PMID 17222702 DOI: 10.1016/S0070-2153(06)77005-3 |
0.559 |
|
| 2007 |
Brown A, Elstner M, Yeaman S, Turnbull D, Walker M. Decreased mitochondrial respiration impairs insulin action in cultured human skeletal muscle cells Diabetic Medicine. DOI: 10.1111/J.1464-5491.2007.02126.X |
0.403 |
|
| 2007 |
Taylor RW, Chinnery PF, Turnbull DM. Investigation of metabolic myopathies Handbook of Clinical Neurology. 86: 193-204. DOI: 10.1016/S0072-9752(07)86009-X |
0.484 |
|
| 2007 |
Swallwell H, McFarland R, Elson J, Blakely E, He L, Groen E, Bushby K, Turnbull D, Taylor R. M.P.1.15 A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations Neuromuscular Disorders. 17: 771-772. DOI: 10.1016/J.Nmd.2007.06.040 |
0.48 |
|
| 2007 |
Turnbull D. M.I.5 Somatic mtDNA mutations in health and disease and a futuristic approach towards therapy Neuromuscular Disorders. 17: 765. DOI: 10.1016/J.Nmd.2007.06.019 |
0.342 |
|
| 2007 |
Chinnery PF, Turnbull DM. Chapter 88 – Metabolic Myopathies (Including Mitochondrial Diseases) Neurology and Clinical Neuroscience. 1195-1209. DOI: 10.1016/B978-0-323-03354-1.50092-4 |
0.467 |
|
| 2006 |
Morris AA, Appleton RE, Power B, Isherwood DM, Abernethy LJ, Taylor RW, Turnbull DM, Verhoeven NM, Salomons GS, Jakobs C. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. Journal of Inherited Metabolic Disease. 30: 100. PMID 17171576 DOI: 10.1007/S10545-006-0478-2 |
0.456 |
|
| 2006 |
Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscular Disorders : Nmd. 16: 814-20. PMID 17123819 DOI: 10.1016/J.Nmd.2006.08.006 |
0.457 |
|
| 2006 |
Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, Haller RG, Turnbull DM. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions Brain. 129: 3391-3401. PMID 17085458 DOI: 10.1093/Brain/Awl282 |
0.367 |
|
| 2006 |
Gupta S, Wyllie J, Wright C, Turnbull DM, Taylor RW. Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period. The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 19: 587-9. PMID 16966130 DOI: 10.1080/14767050600632623 |
0.501 |
|
| 2006 |
Angelini C, Federico A, Reichmann H, Lombes A, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. European Journal of Neurology. 13: 923-929. PMID 16930355 DOI: 10.1111/J.1468-1331.2006.01482.X |
0.335 |
|
| 2006 |
Durham SE, Brown DT, Turnbull DM, Chinnery PF. Progressive depletion of mtDNA in mitochondrial myopathy. Neurology. 67: 502-4. PMID 16894115 DOI: 10.1212/01.Wnl.0000227961.55640.2F |
0.515 |
|
| 2006 |
Pye D, Kyriakouli DS, Taylor GA, Johnson R, Elstner M, Meunier B, Chrzanowska-Lightowlers ZM, Taylor RW, Turnbull DM, Lightowlers RN. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Research. 34: e95. PMID 16885236 DOI: 10.1093/Nar/Gkl516 |
0.548 |
|
| 2006 |
Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathology and Applied Neurobiology. 32: 359-73. PMID 16866982 DOI: 10.1111/J.1365-2990.2006.00731.X |
0.477 |
|
| 2006 |
Brown DT, Herbert M, Lamb VK, Chinnery PF, Taylor RW, Lightowlers RN, Craven L, Cree L, Gardner JL, Turnbull DM. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet (London, England). 368: 87-9. PMID 16815383 DOI: 10.1016/S0140-6736(06)68972-1 |
0.561 |
|
| 2006 |
Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology. 66: 1932-4. PMID 16801664 DOI: 10.1212/01.Wnl.0000219759.72195.41 |
0.449 |
|
| 2006 |
Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. American Journal of Human Genetics. 78: 1026-34. PMID 16685652 DOI: 10.1086/504303 |
0.479 |
|
| 2006 |
Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology. 66: 1439-41. PMID 16682683 DOI: 10.1212/01.Wnl.0000210486.32196.24 |
0.517 |
|
| 2006 |
McDonald SA, Preston SL, Greaves LC, Leedham SJ, Lovell MA, Jankowski JA, Turnbull DM, Wright NA. Clonal expansion in the human gut: mitochondrial DNA mutations show us the way. Cell Cycle (Georgetown, Tex.). 5: 808-11. PMID 16628008 DOI: 10.4161/Cc.5.8.2641 |
0.44 |
|
| 2006 |
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, ... ... Turnbull D, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain : a Journal of Neurology. 129: 1674-84. PMID 16621917 DOI: 10.1093/Brain/Awl088 |
0.46 |
|
| 2006 |
Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nature Genetics. 38: 515-7. PMID 16604074 DOI: 10.1038/Ng1769 |
0.464 |
|
| 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 |
0.342 |
|
| 2006 |
Andrews R, Ressiniotis T, Turnbull DM, Birch M, Keers S, Chinnery PF, Griffiths PG. The role of mitochondrial haplogroups in primary open angle glaucoma. The British Journal of Ophthalmology. 90: 488-90. PMID 16547333 DOI: 10.1136/Bjo.2005.084335 |
0.459 |
|
| 2006 |
Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager. Neuromuscular Disorders : Nmd. 16: 269-73. PMID 16527485 DOI: 10.1016/J.Nmd.2006.01.001 |
0.433 |
|
| 2006 |
Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZM, White CB, Shield JP, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatric Research. 59: 440-4. PMID 16492986 DOI: 10.1203/01.Pdr.0000198771.78290.C4 |
0.539 |
|
| 2006 |
Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW. Pure myopathy associated with a novel mitochondrial tRNA gene mutation. Neurology. 66: 447-9. PMID 16476954 DOI: 10.1212/01.Wnl.0000196490.36349.83 |
0.53 |
|
| 2006 |
Wilding CS, Cadwell K, Tawn EJ, Relton CL, Taylor GA, Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation. Radiation Research. 165: 202-7. PMID 16435918 DOI: 10.1667/Rr3494.1 |
0.403 |
|
| 2006 |
Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease? Human Genetics. 119: 241-54. PMID 16408223 DOI: 10.1007/S00439-005-0123-8 |
0.395 |
|
| 2006 |
Greaves LC, Preston SL, Tadrous PJ, Taylor RW, Barron MJ, Oukrif D, Leedham SJ, Deheragoda M, Sasieni P, Novelli MR, Jankowski JA, Turnbull DM, Wright NA, McDonald SA. Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proceedings of the National Academy of Sciences of the United States of America. 103: 714-9. PMID 16407113 DOI: 10.1073/Pnas.0505903103 |
0.46 |
|
| 2006 |
Borthwick GM, Taylor RW, Walls TJ, Tonska K, Taylor GA, Shaw PJ, Ince PG, Turnbull DM. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Annals of Neurology. 59: 570-4. PMID 16358336 DOI: 10.1002/Ana.20758 |
0.464 |
|
| 2006 |
Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: Mutation or polymorphism? Journal of Medical Genetics. 43: 175-179. PMID 15972314 DOI: 10.1136/Jmg.2005.032474 |
0.482 |
|
| 2006 |
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology. 64: 1204-8. PMID 15824347 DOI: 10.1212/01.Wnl.0000156516.77696.5A |
0.492 |
|
| 2006 |
Turnbull D. Book Review Mitochondrial Medicine Edited by Salvatore DiMauro, Michio Hirano, and Eric A. Schon. 348 pp., illustrated. Abingdon, England, Informa Healthcare, 2006. $229.95. 1-84214-288-7 New England Journal of Medicine. 355: 855-855. DOI: 10.1056/NEJMBKREV57096 |
0.337 |
|
| 2006 |
Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Taylor R, Turnbull D. G.P.3 06 An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities Neuromuscular Disorders. 16: 660-661. DOI: 10.1016/J.Nmd.2006.05.066 |
0.36 |
|
| 2005 |
Baudouin SV, Saunders D, Tiangyou W, Elson JL, Poynter J, Pyle A, Keers S, Turnbull DM, Howell N, Chinnery PF. Mitochondrial DNA and survival after sepsis: A prospective study Lancet. 366: 2118-2121. PMID 16360789 DOI: 10.1016/S0140-6736(05)67890-7 |
0.421 |
|
| 2005 |
Barron MJ, Chinnery PF, Howel D, Blakely EL, Schaefer AM, Taylor RW, Turnbull DM. Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. Neuromuscular Disorders : Nmd. 15: 768-74. PMID 16198107 DOI: 10.1016/J.Nmd.2005.06.018 |
0.426 |
|
| 2005 |
Howell N, Elson JL, Chinnery PF, Turnbull DM. mtDNA mutations and common neurodegenerative disorders Trends in Genetics. 21: 583-586. PMID 16154228 DOI: 10.1016/J.Tig.2005.08.012 |
0.402 |
|
| 2005 |
Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. The Febs Journal. 272: 3583-92. PMID 16008558 DOI: 10.1111/J.1742-4658.2005.04779.X |
0.474 |
|
| 2005 |
Jacobs HT, Turnbull DM. Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends in Genetics : Tig. 21: 312-4. PMID 15922826 DOI: 10.1016/J.Tig.2005.04.003 |
0.534 |
|
| 2005 |
Taylor RW, Turnbull DM. Mitochondrial Dna Mutations In Human Disease Nature Reviews Genetics. 6: 389-402. PMID 15861210 DOI: 10.1038/Nrg1606 |
0.56 |
|
| 2005 |
Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW. Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. Muscle & Nerve. 32: 104-7. PMID 15795893 DOI: 10.1002/Mus.20319 |
0.52 |
|
| 2005 |
Andrews HE, Nichols PP, Bates D, Turnbull DM. Mitochondrial dysfunction plays a key role in progressive axonal loss in Multiple Sclerosis. Medical Hypotheses. 64: 669-677. PMID 15694681 DOI: 10.1016/J.Mehy.2004.09.001 |
0.324 |
|
| 2005 |
Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. European Journal of Human Genetics : Ejhg. 13: 623-7. PMID 15657614 DOI: 10.1038/Sj.Ejhg.5201363 |
0.543 |
|
| 2005 |
Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Strategies for treating disorders of the mitochondrial genome. Biochimica Et Biophysica Acta. 1659: 232-9. PMID 15576056 DOI: 10.1016/J.Bbabio.2004.09.003 |
0.478 |
|
| 2005 |
Richardson C, Smith T, Schaefer A, Turnbull D, Griffiths P. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye. 19: 258-263. PMID 15272295 DOI: 10.1038/Sj.Eye.6701488 |
0.351 |
|
| 2004 |
Howell N, Kubacka I, Keers SM, Turnbull DM, Chinnery PF. Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree. Human Genetics. 116: 28-32. PMID 15599765 DOI: 10.1007/S00439-004-1203-X |
0.387 |
|
| 2004 |
Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders--past, present and future. Biochimica Et Biophysica Acta. 1659: 115-20. PMID 15576042 DOI: 10.1016/J.Bbabio.2004.09.005 |
0.466 |
|
| 2004 |
McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. Assigning pathogenicity to mitochondrial tRNA mutations: When 'definitely maybe' is not good enough Trends in Genetics. 20: 591-596. PMID 15522452 DOI: 10.1016/J.Tig.2004.09.014 |
0.469 |
|
| 2004 |
Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Mutations of the mitochondrial ND1 gene as a cause of MELAS. Journal of Medical Genetics. 41: 784-9. PMID 15466014 DOI: 10.1136/Jmg.2004.020537 |
0.521 |
|
| 2004 |
Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull DM, McFarland R, Taylor RW. Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. Journal of the Neurological Sciences. 225: 99-103. PMID 15465092 DOI: 10.1016/J.Jns.2004.07.007 |
0.515 |
|
| 2004 |
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, ... ... Turnbull DM, et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet (London, England). 364: 592-6. PMID 15313359 DOI: 10.1016/S0140-6736(04)16851-7 |
0.433 |
|
| 2004 |
Deschauer M, Chinnery PF, Schaefer AM, Turnbull DM, Taylor RW, Zierz S, Shanske S, DiMauro S, Majamaa K, Wilichowski E, Thorburn DR. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. Journal of Neurology, Neurosurgery, and Psychiatry. 75: 1204-5. PMID 15258237 DOI: 10.1136/Jnnp.2003.026278 |
0.455 |
|
| 2004 |
Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZMA, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene. Neuromuscular Disorders. 14: 417-420. PMID 15210164 DOI: 10.1016/J.Nmd.2004.03.004 |
0.543 |
|
| 2004 |
McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. European Journal of Human Genetics : Ejhg. 12: 778-81. PMID 15199381 DOI: 10.1038/Sj.Ejhg.5201216 |
0.452 |
|
| 2004 |
Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene. Neurology. 62: 1420-3. PMID 15111688 DOI: 10.1212/01.Wnl.0000120667.77372.46 |
0.499 |
|
| 2004 |
Pye D, Watt DJ, Walker C, Lightowlers RN, Turnbull DM. Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease. Neuromuscular Disorders : Nmd. 14: 329-36. PMID 15099593 DOI: 10.1016/J.Nmd.2004.02.010 |
0.423 |
|
| 2004 |
Yu-Wai-Man P, Howell N, Mackey DA, Nørby S, Rosenberg T, Turnbull DM, Chinnery PF. Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. Journal of Medical Genetics. 41: e41. PMID 15060117 DOI: 10.1136/Jmg.2003.011247 |
0.483 |
|
| 2004 |
Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics : Ejhg. 12: 509-12. PMID 15054399 DOI: 10.1038/Sj.Ejhg.5201185 |
0.501 |
|
| 2004 |
McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation Annals of Neurology. 55: 478-484. PMID 15048886 DOI: 10.1002/Ana.20004 |
0.474 |
|
| 2004 |
Betts J, Lightowlers RN, Turnbull DM. Neuropathological aspects of mitochondrial DNA disease. Neurochemical Research. 29: 505-11. PMID 15038598 DOI: 10.1023/B:Nere.0000014821.07269.8D |
0.466 |
|
| 2004 |
Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscular Disorders : Nmd. 14: 237-45. PMID 15019701 DOI: 10.1016/J.Nmd.2003.12.004 |
0.518 |
|
| 2004 |
Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in "identical" twin brothers. Journal of Medical Genetics. 41: e19. PMID 14757869 DOI: 10.1136/Jmg.2003.011296 |
0.499 |
|
| 2004 |
McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscular Disorders : Nmd. 14: 162-6. PMID 14733964 DOI: 10.1016/J.Nmd.2003.10.011 |
0.539 |
|
| 2004 |
Gibson AM, Edwardson JA, Turnbull DM, McKeith IG, Morris CM, Chinnery PF. No evidence of an association between the T16189C mtDNA variant and late onset dementia. Journal of Medical Genetics. 41: e7. PMID 14729847 DOI: 10.1136/Jmg.2003.010983 |
0.397 |
|
| 2004 |
Elson JL, Turnbull DM, Howell N. Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection American Journal of Human Genetics. 74: 229-238. PMID 14712420 DOI: 10.1086/381505 |
0.383 |
|
| 2004 |
McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Annals of Neurology. 55: 58-64. PMID 14705112 DOI: 10.1002/Ana.10787 |
0.551 |
|
| 2004 |
Taylor RW, He L, Proctor SJ, Middleton PG, Turnbull DM. Mitochondrial DNA mutations in the haematopoietic system. Leukemia. 18: 169-170. PMID 14614515 DOI: 10.1038/Sj.Leu.2403208 |
0.512 |
|
| 2004 |
Deschauer M, Chrzanowska-Lightowlers ZM, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Molecular Genetics and Metabolism. 79: 124-8. PMID 12809643 DOI: 10.1016/S1096-7192(03)00067-2 |
0.396 |
|
| 2004 |
Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. Neurology. 60: 1357-9. PMID 12707444 DOI: 10.1212/01.Wnl.0000055869.99975.4B |
0.481 |
|
| 2004 |
McFarland B, Pye D, Glanville M, Chrzanowska-Lightowlers Z, Turnbull D, Lightowlers R. A homoplasmic mtDNA mutation promotes rapid decay of deacylated mt-tRNAVal Biochimica Et Biophysica Acta. DOI: 10.1016/J.Bbabio.2004.05.001 |
0.402 |
|
| 2003 |
Olpin SE, Afifi A, Clark S, Manning NJ, Bonham JR, Dalton A, Leonard JV, Land JM, Andresen BS, Morris AA, Muntoni F, Turnbull D, Pourfarzam M, Rahman S, Pollitt RJ. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. Journal of Inherited Metabolic Disease. 26: 543-57. PMID 14605500 DOI: 10.1023/A:1025947930752 |
0.366 |
|
| 2003 |
Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TB, Turnbull DM. Mitochondrial DNA mutations in human colonic crypt stem cells. The Journal of Clinical Investigation. 112: 1351-60. PMID 14597761 DOI: 10.1172/Jci19435 |
0.529 |
|
| 2003 |
He L, Luo L, Proctor SJ, Middleton PG, Blakely EL, Taylor RW, Turnbull DM. Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia. 17: 2487-2491. PMID 14523470 DOI: 10.1038/Sj.Leu.2403146 |
0.502 |
|
| 2003 |
McGregor A, Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired. Biochimica Et Biophysica Acta. 1629: 73-83. PMID 14522082 DOI: 10.1016/J.Bbaexp.2003.08.005 |
0.482 |
|
| 2003 |
Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Genotypes from patients indicate no paternal mitochondrial DNA contribution. Annals of Neurology. 54: 521-4. PMID 14520666 DOI: 10.1002/Ana.10673 |
0.536 |
|
| 2003 |
Ross GF, Smith PM, McGregor A, Turnbull DM, Lightowlers RN. Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking. Bioconjugate Chemistry. 14: 962-6. PMID 13129399 DOI: 10.1021/Bc034050F |
0.503 |
|
| 2003 |
Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia Neuromuscular Disorders. 13: 568-572. PMID 12921794 DOI: 10.1016/S0960-8966(03)00071-3 |
0.551 |
|
| 2003 |
McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. The Lancet. Neurology. 1: 343-51. PMID 12849395 DOI: 10.1016/S1474-4422(02)00159-X |
0.508 |
|
| 2003 |
Taylor RW, Jobling MS, Turnbull DM, Chinnery PF. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy. Journal of Medical Genetics. 40: e85. PMID 12843334 DOI: 10.1136/Jmg.40.7.E85 |
0.453 |
|
| 2003 |
Taylor RW, Giordano C, Davidson MM, d'Amati G, Bain H, Hayes CM, Leonard H, Barron MJ, Casali C, Santorelli FM, Hirano M, Lightowlers RN, DiMauro S, Turnbull DM. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. Journal of the American College of Cardiology. 41: 1786-96. PMID 12767666 DOI: 10.1016/S0735-1097(03)00300-0 |
0.569 |
|
| 2003 |
Chinnery PF, Howel D, Turnbull DM, Johnson MA. Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres. Journal of the Neurological Sciences. 211: 63-6. PMID 12767499 DOI: 10.1016/S0022-510X(03)00039-X |
0.461 |
|
| 2003 |
Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology. 60: 1354-6. PMID 12707443 DOI: 10.1212/01.Wnl.0000056088.09408.3C |
0.45 |
|
| 2003 |
Man PY, Morris CM, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy Journal of Medical Genetics. 40. PMID 12676914 DOI: 10.1136/Jmg.40.4.E41 |
0.432 |
|
| 2003 |
Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research. 525: 19-27. PMID 12650902 DOI: 10.1016/S0027-5107(02)00313-5 |
0.522 |
|
| 2003 |
McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KM, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. Neuroreport. 14: 485-8. PMID 12634509 DOI: 10.1097/00001756-200303030-00038 |
0.529 |
|
| 2003 |
Lynn S, Borthwick GM, Charnley RM, Walker M, Turnbull DM. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia. 46: 296-9. PMID 12627331 DOI: 10.1007/S00125-002-1018-Z |
0.487 |
|
| 2003 |
Howell N, Smejkal CB, Mackey DA, Chinnery PF, Turnbull DM, Herrnstadt C. The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates. American Journal of Human Genetics. 72: 659-70. PMID 12571803 DOI: 10.1086/368264 |
0.463 |
|
| 2003 |
Spiropoulos J, Turnbull DM, Chinnery PF. Can mitochondrial DNA mutations cause sperm dysfunction? Molecular Human Reproduction. 8: 719-21. PMID 12149402 DOI: 10.1093/Molehr/8.8.719 |
0.491 |
|
| 2002 |
Cottrell DA, Turnbull DM. The mitochondrial genome, aging and neurodegenerative disorders. Nestlé Nutrition Workshop Series. Clinical & Performance Programme. 6: 1-13; discussion 13-. PMID 16969963 DOI: 10.1159/000061856 |
0.304 |
|
| 2002 |
Yu-Wai-Man P, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. American Journal of Human Genetics. 72: 333-9. PMID 12518276 DOI: 10.1086/346066 |
0.393 |
|
| 2002 |
Chinnery PF, Samuels DC, Elson J, Turnbull DM. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet (London, England). 360: 1323-5. PMID 12414225 DOI: 10.1016/S0140-6736(02)11310-9 |
0.548 |
|
| 2002 |
Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF. The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy. Neuromuscular Disorders : Nmd. 12: 858-64. PMID 12398838 DOI: 10.1016/S0960-8966(02)00047-0 |
0.424 |
|
| 2002 |
Perucca-Lostanlen D, Taylor RW, Narbonne H, Mousson de Camaret B, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C. Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. Biochimica Et Biophysica Acta. 1588: 210-6. PMID 12393175 DOI: 10.1016/S0925-4439(02)00167-9 |
0.522 |
|
| 2002 |
Cottrell DA, Borthwick GM, Johnson MA, Ince PG, Turnbull DM. The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease. Neuropathology and Applied Neurobiology. 28: 390-6. PMID 12366820 DOI: 10.1046/J.1365-2990.2002.00414.X |
0.363 |
|
| 2002 |
Tyni T, Johnson M, Eaton S, Pourfarzam M, Andrews R, Turnbull DM. Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium. Pediatric Research. 52: 595-600. PMID 12357056 DOI: 10.1203/00006450-200210000-00021 |
0.365 |
|
| 2002 |
Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. American Journal of Human Genetics. 71: 863-76. PMID 12215968 DOI: 10.1086/342773 |
0.42 |
|
| 2002 |
Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscular Disorders : Nmd. 12: 659-664. PMID 12207935 DOI: 10.1016/S0960-8966(02)00026-3 |
0.514 |
|
| 2002 |
He L, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Research. 30: e68. PMID 12136116 DOI: 10.1093/Nar/Gnf067 |
0.538 |
|
| 2002 |
Choo-Kang AT, Lynn S, Taylor GA, Daly ME, Sihota SS, Wardell TM, Chinnery PF, Turnbull DM, Walker M. Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome. Diabetes. 51: 2317-20. PMID 12086967 DOI: 10.2337/Diabetes.51.7.2317 |
0.525 |
|
| 2002 |
Yu-Wai-Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy. Neurology. 58: 1861-2. PMID 12084895 DOI: 10.1212/Wnl.58.12.1861 |
0.452 |
|
| 2002 |
Tyni T, Pourfarzam M, Turnbull DM. Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle. Pediatric Research. 52: 64-70. PMID 12084849 DOI: 10.1203/00006450-200207000-00013 |
0.36 |
|
| 2002 |
Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZM, Dong L, Figlewicz DA, Shaw PJ. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain : a Journal of Neurology. 125: 1522-33. PMID 12077002 DOI: 10.1093/Brain/Awf167 |
0.456 |
|
| 2002 |
Chinnery PF, Brown DT, Archibald K, Curtis A, Turnbull DM. Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations. Journal of Medical Genetics. 39: E22. PMID 12011163 DOI: 10.1136/Jmg.39.5.E22 |
0.466 |
|
| 2002 |
Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. American Journal of Human Genetics. 70: 1152-71. PMID 11938495 DOI: 10.1086/339933 |
0.433 |
|
| 2002 |
Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. European Journal of Human Genetics : Ejhg. 10: 141-4. PMID 11938446 DOI: 10.1038/Sj.Ejhg.5200773 |
0.556 |
|
| 2002 |
Herrnstadt C, Preston G, Andrews R, Chinnery P, Lightowlers RN, Turnbull DM, Kubacka I, Howell N. A high frequency of mtDNA polymorphisms in HeLa cell sublines. Mutation Research. 501: 19-28. PMID 11934434 DOI: 10.1016/S0027-5107(01)00304-9 |
0.412 |
|
| 2002 |
Turnbull DM, Lightowlers RN. A roundabout route to gene therapy. Nature Genetics. 30: 345-6. PMID 11925553 DOI: 10.1038/Ng0402-345 |
0.463 |
|
| 2002 |
Yu-Wai-Man P, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. Journal of Medical Genetics. 39: 162-9. PMID 11897814 DOI: 10.1136/Jmg.39.3.162 |
0.438 |
|
| 2002 |
Miele G, Jeffrey M, Turnbull D, Manson J, Clinton M. Ablation of cellular prion protein expression affects mitochondrial numbers and morphology. Biochemical and Biophysical Research Communications. 291: 372-7. PMID 11846415 DOI: 10.1006/Bbrc.2002.6460 |
0.403 |
|
| 2002 |
McFarland R, Clark KM, Morris AA, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genetics. 30: 145-6. PMID 11799391 DOI: 10.1038/Ng819 |
0.477 |
|
| 2002 |
Muratovska A, Lightowlers RN, Taylor RW, Turnbull DM, Smith RA, Wilce JA, Martin SW, Murphy MP. Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Research. 29: 1852-63. PMID 11328868 DOI: 10.1093/Nar/29.9.1852 |
0.443 |
|
| 2002 |
McFarland R, Clark K, Morris A, Taylor R, Lightowlers R, Turnbull D. Multiple Deaths due to Homoplasmic Mitochondrial DNA Mutations Clinical Science. 103: 62P-63P. DOI: 10.1042/Cs103062Pb |
0.499 |
|
| 2001 |
Schaefer AM, Taylor RW, Turnbull DM. The mitochondrial genome and mitochondrial muscle disorders. Current Opinion in Pharmacology. 1: 288-93. PMID 11712753 DOI: 10.1016/S1471-4892(01)00051-0 |
0.562 |
|
| 2001 |
Chinnery PF, Turnbull DM. Epidemiology and treatment of mitochondrial disorders. American Journal of Medical Genetics. 106: 94-101. PMID 11579428 DOI: 10.1002/Ajmg.1426 |
0.525 |
|
| 2001 |
Counter PR, Hilton MP, Webster D, Wardell T, Taylor RW, Besley G, Turnbull DM, Robinson PJ. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. The Journal of Laryngology and Otology. 115: 730-2. PMID 11564302 DOI: 10.1258/0022215011908766 |
0.437 |
|
| 2001 |
Taylor RW, Wardell TM, Connolly BA, Turnbull DM, Lightowlers RN. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates Nucleic Acids Research. 29: 3404-3412. PMID 11504878 DOI: 10.1093/Nar/29.16.3404 |
0.461 |
|
| 2001 |
Cottrell DA, Ince PG, Wardell TM, Turnbull DM, Johnson MA. Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions. Neuropathology and Applied Neurobiology. 27: 206-14. PMID 11489140 DOI: 10.1046/J.1365-2990.2001.00315.X |
0.53 |
|
| 2001 |
Turnbull DM, Lightowlers RN. Might mammalian mitochondria merge? Nature Medicine. 7: 895-6. PMID 11479619 DOI: 10.1038/90929 |
0.376 |
|
| 2001 |
Taylor RW, Taylor GA, Durham SE, Turnbull DM. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Research. 29: E74-4. PMID 11470889 DOI: 10.1093/Nar/29.15.E74 |
0.521 |
|
| 2001 |
Cottrell DA, Blakely EL, Johnson MA, Ince PG, Turnbull DM. Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD. Neurology. 57: 260-4. PMID 11468310 DOI: 10.1212/Wnl.57.2.260 |
0.46 |
|
| 2001 |
Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Annals of Neurology. 50: 104-7. PMID 11456298 DOI: 10.1002/Ana.1084 |
0.546 |
|
| 2001 |
Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 21: S909-12. PMID 11382188 DOI: 10.1007/S100720070002 |
0.564 |
|
| 2001 |
Birch-Machin MA, Turnbull DM. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods in Cell Biology. 65: 97-117. PMID 11381612 DOI: 10.1016/S0091-679X(01)65006-4 |
0.576 |
|
| 2001 |
Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM, Lightowlers RN. An antigenomic strategy for treating heteroplasmic mtDNA disorders. Advanced Drug Delivery Reviews. 49: 121-5. PMID 11377807 DOI: 10.1016/S0169-409X(01)00130-2 |
0.508 |
|
| 2001 |
Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Mitochondrial DNA mutations in disease and ageing. Novartis Foundation Symposium. 235: 234-43; discussion 2. PMID 11280028 DOI: 10.1002/0470868694.Ch19 |
0.539 |
|
| 2001 |
McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology. 56: 467-71. PMID 11222789 DOI: 10.1212/Wnl.56.4.467 |
0.31 |
|
| 2001 |
Cottrell DA, Blakely EL, Johnson MA, Ince PG, Borthwick GM, Turnbull DM. Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age. Neurobiology of Aging. 22: 265-72. PMID 11182476 DOI: 10.1016/S0197-4580(00)00234-7 |
0.483 |
|
| 2001 |
Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. American Journal of Human Genetics. 68: 802-6. PMID 11179029 DOI: 10.1086/318801 |
0.524 |
|
| 2001 |
Chinnery PF, Andrews RM, Turnbull DM, Howell NN. Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? American Journal of Medical Genetics. 98: 235-43. PMID 11169561 DOI: 10.1002/1096-8628(20010122)98:3<235::Aid-Ajmg1086>3.0.Co;2-O |
0.413 |
|
| 2001 |
Chinnery PF, Brown DT, Andrews RM, Singh-Kler R, Riordan-Eva P, Lindley J, Applegarth DA, Turnbull DM, Howell N. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. Brain : a Journal of Neurology. 124: 209-18. PMID 11133798 DOI: 10.1093/Brain/124.1.209 |
0.472 |
|
| 2001 |
Chinnery PF, Taylor GA, Howell N, Brown DT, Parsons TJ, Turnbull DM. Point mutations of the mtDNA control region in normal and neurodegenerative human brains. American Journal of Human Genetics. 68: 529-32. PMID 11133363 DOI: 10.1086/318204 |
0.358 |
|
| 2001 |
Chinnery PF, Jones S, Sviland L, Andrews RM, Parsons TJ, Turnbull DM, Bindoff LA. Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract. Gut. 48: 121-4. PMID 11115833 DOI: 10.1136/Gut.48.1.121 |
0.524 |
|
| 2001 |
Elson JL, Andrews RM, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Analysis of European mtDNAs for recombination. American Journal of Human Genetics. 68: 145-153. PMID 11115380 DOI: 10.1086/316938 |
0.432 |
|
| 2001 |
Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. In-vitro genetic modification of mitochondrial function. Human Reproduction (Oxford, England). 79-85. PMID 11041515 DOI: 10.1093/Humrep/15.Suppl_2.79 |
0.494 |
|
| 2000 |
Brown DT, Samuels DC, Michael EM, Turnbull DM, Chinnery PF. Random genetic drift determines the level of mutant mtDNA in human primary oocytes. American Journal of Human Genetics. 68: 533-6. PMID 11133360 DOI: 10.1086/318190 |
0.399 |
|
| 2000 |
Chinnery PF, Turnbull DM. Mitochondrial DNA mutations in the pathogenesis of human disease. Molecular Medicine Today. 6: 425-32. PMID 11074368 DOI: 10.1016/S1357-4310(00)01805-0 |
0.41 |
|
| 2000 |
Chinnery PF, Thorburn DR, Samuels DC, White SL, Dahl HM, Turnbull DM, Lightowlers RN, Howell N. The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics : Tig. 16: 500-5. PMID 11074292 DOI: 10.1016/S0168-9525(00)02120-X |
0.517 |
|
| 2000 |
Howell N, Chinnery PF, Ghosh SS, Fahy E, Turnbull DM. Transmission of the human mitochondrial genome. Human Reproduction (Oxford, England). 15: 235-45. PMID 11041529 DOI: 10.1093/Humrep/15.Suppl_2.235 |
0.54 |
|
| 2000 |
Cottrell DA, Blakely EL, Borthwick GM, Johnson MA, Taylor GA, Brierley EJ, Ince PG, Turnbull DM. Role of mitochondrial DNA mutations in disease and aging. Annals of the New York Academy of Sciences. 908: 199-207. PMID 10911959 DOI: 10.1111/J.1749-6632.2000.Tb06647.X |
0.528 |
|
| 2000 |
Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology. 55: 302-4. PMID 10908912 DOI: 10.1212/Wnl.55.2.302 |
0.398 |
|
| 2000 |
Cottrell DA, Ince PG, Blakely EL, Johnson MA, Chinnery PF, Hanna M, Turnbull DM. Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder. Journal of Neuropathology and Experimental Neurology. 59: 621-7. PMID 10901234 DOI: 10.1093/Jnen/59.7.621 |
0.374 |
|
| 2000 |
Poulton J, Turnbull DM. 74th ENMC international workshop: mitochondrial diseases 19-20 november 1999, Naarden, the netherlands. Neuromuscular Disorders : Nmd. 10: 460-2. PMID 10899455 DOI: 10.1016/S0960-8966(00)00101-2 |
0.458 |
|
| 2000 |
Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye (London, England). 769-72. PMID 10707142 DOI: 10.1038/Eye.1999.225 |
0.454 |
|
| 2000 |
Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria. Gene Therapy. 6: 1919-28. PMID 10637443 DOI: 10.1038/Sj.Gt.3301061 |
0.341 |
|
| 2000 |
Birch-Machin MA, Taylor RW, Cochran B, Ackrell BAC, Turnbull DM. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene Annals of Neurology. 48: 330-335. DOI: 10.1002/1531-8249(200009)48:3<330::Aid-Ana7>3.0.Co;2-A |
0.465 |
|
| 2000 |
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. The epidemiology of pathogenic mitochondrial DNA mutations Annals of Neurology. 48: 188-193. DOI: 10.1002/1531-8249(200008)48:2<188::Aid-Ana8>3.0.Co;2-P |
0.459 |
|
| 1999 |
Andrews RM, McNeela BJ, Reading P, Griffiths PG, Chinnery PF, Turnbull DM. Mitochondrial DNA disease masquerading as age-related mascular degeneration. Eye. 13: 595-596. PMID 10692944 DOI: 10.1038/Eye.1999.151 |
0.457 |
|
| 1999 |
Borthwick GM, Johnson MA, Ince PG, Shaw PJ, Turnbull DM. Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death. Annals of Neurology. 46: 787-90. PMID 10553999 DOI: 10.1002/1531-8249(199911)46:5<787::Aid-Ana17>3.0.Co;2-8 |
0.452 |
|
| 1999 |
Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nature Genetics. 23: 147. PMID 10508508 DOI: 10.1038/13779 |
0.432 |
|
| 1999 |
Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Nonrandom tissue distribution of mutant mtDNA. American Journal of Medical Genetics. 85: 498-501. PMID 10405450 DOI: 10.1002/(Sici)1096-8628(19990827)85:5<498::Aid-Ajmg13>3.0.Co;2-8 |
0.45 |
|
| 1999 |
Andrews RM, Griffiths PG, Johnson MA, Turnbull DM. Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina British Journal of Ophthalmology. 83: 231-235. PMID 10396204 DOI: 10.1136/Bjo.83.2.231 |
0.318 |
|
| 1999 |
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. American Journal of Human Genetics. 64: 1330-9. PMID 10205264 DOI: 10.1086/302361 |
0.495 |
|
| 1999 |
Elliott PM, Hanna MG, Ward SA, Chinnery PF, Turnbull DM, Wood NW, McKenna WJ. Diagnostic utility of metabolic exercise testing in a patient with cardiovascular disease. Heart (British Cardiac Society). 81: 441-3. PMID 10092577 DOI: 10.1136/Hrt.81.4.441 |
0.344 |
|
| 1999 |
Morris AA, Turnbull DM. Fatty acid oxidation defects in muscle. Current Opinion in Neurology. 11: 485-90. PMID 9847998 DOI: 10.1097/00019052-199810000-00011 |
0.327 |
|
| 1999 |
Chinnery PF, Howell N, Andrews RM, Turnbull DM. Mitochondrial DNA analysis: polymorphisms and pathogenicity Journal of Medical Genetics. 36: 505-510. DOI: 10.1136/Jmg.36.7.505 |
0.531 |
|
| 1999 |
Chinnery PF, Howell N, Andrews RM, Turnbull DM. Clinical mitochondrial genetics. Journal of Medical Genetics. 36: 425-436. DOI: 10.1136/Jmg.36.6.425 |
0.554 |
|
| 1998 |
Clark KM, Watt DJ, Lightowlers RN, Johnson MA, Relvas JB, Taanman JW, Turnbull DM. SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects. The Journal of Clinical Investigation. 102: 2090-5. PMID 9854044 DOI: 10.1172/Jci944 |
0.478 |
|
| 1998 |
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain : a Journal of Neurology. 1889-94. PMID 9798744 DOI: 10.1093/Brain/121.10.1889 |
0.444 |
|
| 1998 |
Lynn S, Wardell T, Johnson MA, Chinnery PF, Daly ME, Walker M, Turnbull DM. Mitochondrial diabetes: investigation and identification of a novel mutation. Diabetes. 47: 1800-2. PMID 9792552 DOI: 10.2337/Diabetes.47.11.1800 |
0.454 |
|
| 1998 |
Taylor RW, Taylor GA, Morris CM, Edwardson JM, Turnbull DM. Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood. Biochemical and Biophysical Research Communications. 251: 883-7. PMID 9791004 DOI: 10.1006/Bbrc.1998.9553 |
0.508 |
|
| 1998 |
Chinnery PF, Turnbull DM, Howell N, Andrews RM. Mitochondrial DNA mutations and pathogenicity. Journal of Medical Genetics. 35: 701-2. PMID 9719386 DOI: 10.1136/Jmg.35.8.701-A |
0.511 |
|
| 1998 |
Chinnery PF, Turnbull DM. Mitochondrial genotype and clinical phenotype. Journal of Inherited Metabolic Disease. 21: 321-5. PMID 9700589 DOI: 10.1023/A:1005357221101 |
0.36 |
|
| 1998 |
Morris AA, Olpin SE, Brivet M, Turnbull DM, Jones RA, Leonard JV. A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype. The Journal of Pediatrics. 132: 514-6. PMID 9544911 DOI: 10.1016/S0022-3476(98)70030-7 |
0.317 |
|
| 1998 |
Turnbull DM, Lightowlers RN. An essential guide to mtDNA maintenance. Nature Genetics. 18: 199-200. PMID 9500531 DOI: 10.1038/Ng0398-199 |
0.444 |
|
| 1998 |
Brierley EJ, Johnson MA, Lightowlers RN, James OF, Turnbull DM. Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Annals of Neurology. 43: 217-23. PMID 9485063 DOI: 10.1002/Ana.410430212 |
0.486 |
|
| 1998 |
Chinnery PF, Turnbull DM. Vomiting, anorexia, and mitochondrial DNA disease. Lancet (London, England). 351: 448. PMID 9482334 DOI: 10.1016/S0140-6736(05)78396-3 |
0.479 |
|
| 1998 |
Chinnery PF, Turnbull DM. Mitochondrial medicine. Qjm : Monthly Journal of the Association of Physicians. 90: 657-67. PMID 9474346 DOI: 10.1093/qjmed/90.11.657 |
0.395 |
|
| 1998 |
Taylor RW, Chinnery PF, Bates MJ, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochemical and Biophysical Research Communications. 243: 47-51. PMID 9473477 DOI: 10.1006/Bbrc.1997.8055 |
0.505 |
|
| 1998 |
Walker M, Turnbull DM. Mitochondrial related diabetes: a clinical perspective. Diabetic Medicine : a Journal of the British Diabetic Association. 14: 1007-9. PMID 9455926 DOI: 10.1002/(Sici)1096-9136(199712)14:12<1007::Aid-Dia541>3.0.Co;2-R |
0.387 |
|
| 1998 |
Chinnery PF, Turnbull DM. Clinical features, investigation, and management of patients with defects of mitochondrial DNA. Journal of Neurology, Neurosurgery, and Psychiatry. 63: 559-63. PMID 9408091 DOI: 10.1136/Jnnp.63.5.559 |
0.534 |
|
| 1998 |
Lightowlers RN, Chinnery PF, Turnbull DM, Howell N. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends in Genetics : Tig. 13: 450-5. PMID 9385842 DOI: 10.1016/S0168-9525(97)01266-3 |
0.552 |
|
| 1997 |
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain : a Journal of Neurology. 1713-21. PMID 9365365 DOI: 10.1093/Brain/120.10.1713 |
0.453 |
|
| 1997 |
Chinnery PF, Johnson MA, Taylor RW, Durward WF, Turnbull DM. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology. 49: 1166-8. PMID 9339712 DOI: 10.1212/Wnl.49.4.1166 |
0.453 |
|
| 1997 |
Chinnery PF, Reading PJ, Milne D, Gardner-Medwin D, Turnbull DM. CSF antigliadin antibodies and the Ramsay Hunt syndrome. Neurology. 49: 1131-3. PMID 9339701 DOI: 10.1212/Wnl.49.4.1131 |
0.312 |
|
| 1997 |
Chinnery PF, Turnbull DM, Walls TJ, Reading PJ. Recurrent strokes in a 34-year-old man Lancet. 350: 560. PMID 9284779 DOI: 10.1016/S0140-6736(97)05005-8 |
0.517 |
|
| 1997 |
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Treatment of mitochondrial disease. Journal of Bioenergetics and Biomembranes. 29: 195-205. PMID 9239544 DOI: 10.1023/A:1022646215643 |
0.363 |
|
| 1997 |
Clark KM, Bindoff LA, Lightowlers RN, Andrews RM, Griffiths PG, Johnson MA, Brierley EJ, Turnbull DM. Reversal of a mitochondrial DNA defect in human skeletal muscle. Nature Genetics. 16: 222-4. PMID 9207784 DOI: 10.1038/Ng0797-222 |
0.462 |
|
| 1997 |
Chinnery PF, Johnson MA, Taylor RW, Lightowlers RN, Turnbull DM. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Annals of Neurology. 41: 408-10. PMID 9066365 DOI: 10.1002/Ana.410410319 |
0.505 |
|
| 1997 |
Schaefer J, Jackson S, Taroni F, Swift P, Turnbull DM. Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. Journal of Neurology, Neurosurgery, and Psychiatry. 62: 169-76. PMID 9048718 DOI: 10.1136/Jnnp.62.2.169 |
0.336 |
|
| 1997 |
Adams PL, Lightowlers RN, Turnbull DM. Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Annals of Neurology. 41: 268-70. PMID 9029077 DOI: 10.1002/Ana.410410219 |
0.391 |
|
| 1997 |
Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genetics. 15: 212-5. PMID 9020853 DOI: 10.1038/Ng0297-212 |
0.467 |
|
| 1997 |
Brierly EJ, Johnson MA, Bowman A, Ford GA, Subhan F, Reed JW, James OF, Turnbull DM. Mitochondrial function in muscle from elderly athletes. Annals of Neurology. 41: 114-6. PMID 9005875 DOI: 10.1002/Ana.410410120 |
0.47 |
|
| 1997 |
Taylor RW, Chinnery PF, Clark KM, Lightowlers RN, Turnbull DM. Selective inhibition of mutant mitochondrial DNA replication Expert Opinion On Therapeutic Targets. 1: 249-252. DOI: 10.1517/14728222.1.1.249 |
0.32 |
|
| 1997 |
Brierley E, Johnson M, James O, Turnbull D. Clonal Expansion of Mitochondrial Dna Mutations in Aged Human Muscle Age and Ageing. 26: P25-P25. DOI: 10.1093/Ageing/26.Suppl_1.P25-C |
0.501 |
|
| 1997 |
Brierley EJ, Johnson MA, James OFW, Turnbull DM. Mitochondrial Involvement In The Ageing Process. Facts And Controversies Molecular and Cellular Biochemistry. 174: 325-328. DOI: 10.1007/978-1-4615-6111-8_49 |
0.5 |
|
| 1996 |
Taylor RW, Birch-Machin MA, Schaefer J, Taylor L, Shakir R, Ackrell BA, Cochran B, Bindoff LA, Jackson MJ, Griffiths P, Turnbull DM. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. Annals of Neurology. 39: 224-32. PMID 8967754 DOI: 10.1002/Ana.410390212 |
0.506 |
|
| 1996 |
Adams PL, Turnbull DM. Disorders of the electron transport chain. Journal of Inherited Metabolic Disease. 19: 463-9. PMID 8884570 DOI: 10.1007/Bf01799107 |
0.355 |
|
| 1996 |
Morris AA, Singh-Kler R, Perry RH, Griffiths PD, Burt AD, Wong CP, Gardner-Medwin D, Turnbull DM. Respiratory chain dysfunction in progressive neuronal degeneration of childhood with liver disease. Journal of Child Neurology. 11: 417-9. PMID 8877614 DOI: 10.1177/088307389601100517 |
0.316 |
|
| 1996 |
Schaefer J, Jackson S, Dick DJ, Turnbull DM. Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect. Annals of Neurology. 40: 597-602. PMID 8871579 DOI: 10.1002/Ana.410400409 |
0.404 |
|
| 1996 |
Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Annals of Neurology. 40: 459-62. PMID 8797538 DOI: 10.1002/Ana.410400318 |
0.514 |
|
| 1996 |
Brierley EJ, Johnson MA, James OF, Turnbull DM. Effects of physical activity and age on mitochondrial function. Qjm : Monthly Journal of the Association of Physicians. 89: 251-8. PMID 8733511 DOI: 10.1093/Qjmed/89.4.251 |
0.481 |
|
| 1996 |
Morris AA, Leonard JV, Brown GK, Bidouki SK, Bindoff LA, Woodward CE, Harding AE, Lake BD, Harding BN, Farrell MA, Bell JE, Mirakhur M, Turnbull DM. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Annals of Neurology. 40: 25-30. PMID 8687187 DOI: 10.1002/Ana.410400107 |
0.445 |
|
| 1996 |
Brierley EJ, Griffiths PG, Weber K, Johnson MA, Turnbull DM. Normal Respiratory Chain Function in Patients With Low-tension Glaucoma Archives of Ophthalmology. 114: 142-146. PMID 8573015 DOI: 10.1001/Archopht.1996.01100130136003 |
0.525 |
|
| 1996 |
Vergani L, Angelini C, Pegoraro E, Cadaldini M, Simioni P, Girolami A, Turnbull D. Hereditary protein C deficiency associated with riboflavin-responsive lipid storage myopathy European Journal of Neurology. 3: 61-65. DOI: 10.1111/J.1468-1331.1996.Tb00191.X |
0.334 |
|
| 1995 |
Ruitenbeek W, Poels PJE, Turnbull DM, Garavaglia B, Chalmers RA, Taylor RW, Gabreels FJM. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency Journal of Neurology Neurosurgery and Psychiatry. 58: 209-214. PMID 7876853 DOI: 10.1136/Jnnp.58.2.209 |
0.382 |
|
| 1995 |
Morris AA, Turnbull DM. Metabolic disorders in children. Current Opinion in Neurology. 7: 535-41. PMID 7866586 DOI: 10.1097/00019052-199412000-00011 |
0.333 |
|
| 1995 |
Schaefer J, Pourfarzam M, Bartlett K, Jackson S, Turnbull DM. Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation. Pediatric Research. 37: 354-60. PMID 7784145 DOI: 10.1203/00006450-199503000-00017 |
0.323 |
|
| 1995 |
Jackson MJ, Schaefer JA, Johnson MA, Morris AA, Turnbull DM, Bindoff LA. Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain : a Journal of Neurology. 118: 339-57. PMID 7735877 DOI: 10.1093/Brain/118.2.339 |
0.444 |
|
| 1995 |
Walker M, Taylor RW, Stewart MW, Bindoff LA, Jackson MJ, Alberti GK, Turnbull DM. Insulin sensitivity and mitochondrial gene mutation. Diabetes Care. 18: 273-5. PMID 7729311 DOI: 10.2337/Diacare.18.2.273 |
0.442 |
|
| 1995 |
Jackson S, Schaefer J, Middleton B, Turnbull DM. Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase. Biochemical and Biophysical Research Communications. 214: 247-53. PMID 7669045 DOI: 10.1006/bbrc.1995.2281 |
0.307 |
|
| 1995 |
Morris AA, Taylor RW, Lightowlers RN, Aynsley-Green A, Bartlett K, Turnbull DM. Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. Human Molecular Genetics. 4: 747-9. PMID 7633427 DOI: 10.1093/Hmg/4.4.747 |
0.321 |
|
| 1995 |
Morris AA, Taylor RW, Birch-Machin MA, Jackson MJ, Coulthard MG, Bindoff LA, Welch RJ, Howell N, Turnbull DM. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. Pediatric Nephrology (Berlin, Germany). 9: 407-11. PMID 7577396 DOI: 10.1007/Bf00866711 |
0.402 |
|
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