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Items: 1 to 50 of 542

1.

Predominant Asymmetrical Stem Cell Fate Outcome Limits the Rate of Niche Succession in Human Colonic Crypts.

Stamp C, Zupanic A, Sachdeva A, Stoll EA, Shanley DP, Mathers JC, Kirkwood TBL, Heer R, Simons BD, Turnbull DM, Greaves LC.

EBioMedicine. 2018 Apr 25. pii: S2352-3964(18)30145-2. doi: 10.1016/j.ebiom.2018.04.017. [Epub ahead of print]

2.

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.

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.

EMBO Mol Med. 2018 May 7. pii: e8262. doi: 10.15252/emmm.201708262. [Epub ahead of print]

3.

The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease.

Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR.

Epilepsia Open. 2018 Jan 11;3(1):103-108. doi: 10.1002/epi4.12094. eCollection 2018 Mar.

4.

Roles of Mitochondrial DNA Mutations in Stem Cell Ageing.

Su T, Turnbull DM, Greaves LC.

Genes (Basel). 2018 Mar 27;9(4). pii: E182. doi: 10.3390/genes9040182. Review.

5.

Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.

Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R.

Ann Clin Transl Neurol. 2018 Feb 7;5(3):333-345. doi: 10.1002/acn3.532. eCollection 2018 Mar.

6.

Scientific and Ethical Issues in Mitochondrial Donation.

Craven L, Murphy J, Turnbull DM, Taylor RW, Gorman GS, McFarland R.

New Bioeth. 2018 Apr;24(1):57-73. doi: 10.1080/20502877.2018.1440725.

7.

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.

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, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.

8.

Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo.

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, Helliwell SB.

Sci Rep. 2018 Jan 29;8(1):1799. doi: 10.1038/s41598-018-20064-2.

9.

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA.

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.

Mol Cell. 2018 Jan 4;69(1):9-23.e6. doi: 10.1016/j.molcel.2017.11.033. Epub 2017 Dec 28.

PMID:
29290614
10.

Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.

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.

Ann Neurol. 2018 Jan;83(1):115-130. doi: 10.1002/ana.25127.

11.

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

Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW.

Neurol Genet. 2017 Dec 15;3(6):e202. doi: 10.1212/NXG.0000000000000202. eCollection 2017 Dec. No abstract available.

12.

Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.

Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Oláhová M, McFarland R, Turnbull DM, Rocha MC, Taylor RW.

Sci Rep. 2017 Nov 15;7(1):15676. doi: 10.1038/s41598-017-14623-2.

13.

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

Houghton D, Stewart CJ, Stamp C, Nelson A, Aj Ami NJ, Petrosino JF, Wipat A, Trenell MI, Turnbull DM, Greaves LC.

J Gerontol A Biol Sci Med Sci. 2018 Apr 17;73(5):571-578. doi: 10.1093/gerona/glx197.

14.

Mitochondrial Nanotunnels.

Vincent AE, Turnbull DM, Eisner V, Hajnóczky G, Picard M.

Trends Cell Biol. 2017 Nov;27(11):787-799. doi: 10.1016/j.tcb.2017.08.009. Epub 2017 Sep 19. Review.

15.

Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients.

McCoy J, Bates M, Eggett C, Siervo M, Cassidy S, Newman J, Moore SA, Gorman G, Trenell MI, Velicki L, Seferovic PM, Cleland JGF, MacGowan GA, Turnbull DM, Jakovljevic DG.

Open Heart. 2017 Jul 28;4(2):e000632. doi: 10.1136/openhrt-2017-000632. eCollection 2017.

16.

Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia.

Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M.

Neurol Genet. 2017 Aug 9;3(5):e181. doi: 10.1212/NXG.0000000000000181. eCollection 2017 Oct. No abstract available.

17.

Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates.

Moad M, Hannezo E, Buczacki SJ, Wilson L, El-Sherif A, Sims D, Pickard R, Wright NA, Williamson SC, Turnbull DM, Taylor RW, Greaves L, Robson CN, Simons BD, Heer R.

Cell Rep. 2017 Aug 15;20(7):1609-1622. doi: 10.1016/j.celrep.2017.07.061.

18.

Decreased male reproductive success in association with mitochondrial dysfunction.

Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM.

Eur J Hum Genet. 2017 Oct;25(10):1162-1164. doi: 10.1038/ejhg.2017.114. Epub 2017 Aug 16.

19.

Impact of age on the association between cardiac high-energy phosphate metabolism and cardiac power in women.

Nathania M, Hollingsworth KG, Bates M, Eggett C, Trenell MI, Velicki L, Seferovic PM, MacGowan GA, Turnbull DM, Jakovljevic DG.

Heart. 2018 Jan;104(2):111-118. doi: 10.1136/heartjnl-2017-311275. Epub 2017 Jun 12.

20.

Recent Advances in Mitochondrial Disease.

Craven L, Alston CL, Taylor RW, Turnbull DM.

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275. doi: 10.1146/annurev-genom-091416-035426. Epub 2017 Apr 17. Review.

PMID:
28415858
21.

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

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, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS.

JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357.

22.

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

Stoll EA, Karapavlovic N, Rosa H, Woodmass M, Rygiel K, White K, Turnbull DM, Faulkes CG.

Aging (Albany NY). 2016 Dec 19;8(12):3468-3485. doi: 10.18632/aging.101140.

23.

The genetics and pathology of mitochondrial disease.

Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW.

J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. Review.

24.

Dysferlin mutations and mitochondrial dysfunction.

Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Nov;26(11):782-788. doi: 10.1016/j.nmd.2016.08.008. Epub 2016 Aug 29.

25.

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

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, Irving L, Kalleas D, Choudhary M, Wells D, Murdoch AP, Turnbull DM, Niakan KK, Herbert M.

Nature. 2016 Oct 27;538(7626):542. doi: 10.1038/nature19105. Epub 2016 Jul 27. No abstract available.

PMID:
27462813
26.

Mitochondrial diseases.

Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM.

Nat Rev Dis Primers. 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. Review.

PMID:
27775730
27.

Mitochondrial dysfunction in myofibrillar myopathy.

Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM.

Neuromuscul Disord. 2016 Oct;26(10):691-701. doi: 10.1016/j.nmd.2016.08.004. Epub 2016 Aug 10.

28.

Unique quadruple immunofluorescence assay demonstrates mitochondrial respiratory chain dysfunction in osteoblasts of aged and PolgA(-/-) mice.

Dobson PF, Rocha MC, Grady JP, Chrysostomou A, Hipps D, Watson S, Greaves LC, Deehan DJ, Turnbull DM.

Sci Rep. 2016 Aug 24;6:31907. doi: 10.1038/srep31907.

29.

Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy.

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, Taylor RW.

Neurol Genet. 2016 Jun 23;2(4):e82. doi: 10.1212/NXG.0000000000000082. eCollection 2016 Aug.

30.

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.

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.

Sci Rep. 2016 Aug 10;6:30610. doi: 10.1038/srep30610. Review.

31.

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency.

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.

Nat Commun. 2016 Aug 9;7:12317. doi: 10.1038/ncomms12317.

32.

Spectrum of Movement Disorders in Mitochondrial Disorders-Reply.

Martikainen MH, Burn DJ, Turnbull DM.

JAMA Neurol. 2016 Oct 1;73(10):1254-1255. doi: 10.1001/jamaneurol.2016.2578. No abstract available.

PMID:
27479912
33.

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.

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.

Ann Neurol. 2016 Nov;80(5):686-692. doi: 10.1002/ana.24736. Epub 2016 Sep 19.

34.

Expanding Our Understanding of mtDNA Deletions.

Picard M, Vincent AE, Turnbull DM.

Cell Metab. 2016 Jul 12;24(1):3-4. doi: 10.1016/j.cmet.2016.06.024.

35.

Reply.

Whittaker RG, Gorman G, Ng Y, Turnbull DM.

Ann Neurol. 2016 Aug;80(2):314. doi: 10.1002/ana.24722. Epub 2016 Jul 25. No abstract available.

PMID:
27393207
36.

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

Lin H, Patel S, Affleck VS, Wilson I, Turnbull DM, Joshi AR, Maxwell R, Stoll EA.

Neuro Oncol. 2017 Jan;19(1):43-54. doi: 10.1093/neuonc/now128. Epub 2016 Jun 29.

37.

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

Khundakar AA, Hanson PS, Erskine D, Lax NZ, Roscamp J, Karyka E, Tsefou E, Singh P, Cockell SJ, Gribben A, Ramsay L, Blain PG, Mosimann UP, Lett DJ, Elstner M, Turnbull DM, Xiang CC, Brownstein MJ, O'Brien JT, Taylor JP, Attems J, Thomas AJ, McKeith IG, Morris CM.

Acta Neuropathol Commun. 2016 Jun 30;4(1):66. doi: 10.1186/s40478-016-0334-3.

38.

Review: Central nervous system involvement in mitochondrial disease.

Lax NZ, Gorman GS, Turnbull DM.

Neuropathol Appl Neurobiol. 2017 Feb;43(2):102-118. doi: 10.1111/nan.12333. Epub 2016 Jul 7. Review.

39.

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

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, Irving L, Kalleas D, Choudhary M, Wells D, Murdoch AP, Turnbull DM, Niakan KK, Herbert M.

Nature. 2016 Jun 16;534(7607):383-6. doi: 10.1038/nature18303. Epub 2016 Jun 8. Erratum in: Nature. 2016 Oct 27;538(7626):542.

40.

The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England.

Yu-Wai-Man P, Griffiths PG, Howell N, Turnbull DM, Chinnery PF.

Am J Hum Genet. 2016 Jun 2;98(6):1271. doi: 10.1016/j.ajhg.2016.05.015. Epub 2016 Jun 2. No abstract available.

41.
42.

Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.

Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM.

Nucleic Acids Res. 2016 Jun 20;44(11):5313-29. doi: 10.1093/nar/gkw382. Epub 2016 Apr 30.

43.

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM.

JAMA Neurol. 2016 Jun 1;73(6):668-74. doi: 10.1001/jamaneurol.2016.0355.

PMID:
27111573
44.

Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia.

Russell OM, Lightowlers RN, Turnbull DM.

Mol Cell. 2016 Apr 7;62(1):5-6. doi: 10.1016/j.molcel.2016.03.027.

45.

The ageing neuromuscular system and sarcopenia: a mitochondrial perspective.

Rygiel KA, Picard M, Turnbull DM.

J Physiol. 2016 Aug 15;594(16):4499-512. doi: 10.1113/JP271212. Epub 2016 May 7. Review.

46.

Mitochondrial DNA Depletion in Respiratory Chain-Deficient Parkinson Disease Neurons.

Grünewald A, Rygiel KA, Hepplewhite PD, Morris CM, Picard M, Turnbull DM.

Ann Neurol. 2016 Mar;79(3):366-78. doi: 10.1002/ana.24571. Epub 2016 Jan 28.

47.

Potential compounds for the treatment of mitochondrial disease.

Rai PK, Russell OM, Lightowlers RN, Turnbull DM.

Br Med Bull. 2015;116:5-18. doi: 10.1093/bmb/ldv046. Epub 2015 Nov 20. Review.

PMID:
26590387
48.

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

Chan F, Lax NZ, Davies CH, Turnbull DM, Cunningham MO.

Neuropharmacology. 2016 Mar;102:48-58. doi: 10.1016/j.neuropharm.2015.10.033. Epub 2015 Oct 28. Review.

PMID:
26518370
49.

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.

Rocha MC, Grady JP, Grünewald A, Vincent A, Dobson PF, Taylor RW, Turnbull DM, Rygiel KA.

Sci Rep. 2015 Oct 15;5:15037. doi: 10.1038/srep15037.

50.

The diagnosis of posterior reversible encephalopathy syndrome.

Ng YS, Gorman GS, Turnbull DM, Martikainen MH.

Lancet Neurol. 2015 Nov;14(11):1073. doi: 10.1016/S1474-4422(15)00253-7. No abstract available.

PMID:
26466774

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