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Items: 1 to 50 of 562

1.

Design and baseline characteristics of the Biomarkers Of Risk In Colorectal Cancer (BORICC) Follow-Up study: A 12+ years follow-up.

Malcomson FC, Breininger SP, ElGendy K, Joel A, Ranathunga RMTK, Hill TR, Bradburn DM, Turnbull DM, Greaves LC, Mathers JC.

Nutr Health. 2019 Aug 2:260106019866963. doi: 10.1177/0260106019866963. [Epub ahead of print]

PMID:
31370734
2.

Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R.

Ann Neurol. 2019 Aug;86(2):310-315. doi: 10.1002/ana.25525. Epub 2019 Jul 1.

PMID:
31187502
3.

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level.

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.

Nucleic Acids Res. 2019 Aug 22;47(14):7430-7443. doi: 10.1093/nar/gkz472.

PMID:
31147703
4.

Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: importance of correcting for baseline intellectual ability.

Moore HL, Kelly T, Bright A, Field RH, Schaefer AM, Blain AP, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

Ann Clin Transl Neurol. 2019 Mar 27;6(5):826-836. doi: 10.1002/acn3.736. eCollection 2019 May.

5.

Mitochondrial Donation - Which Women Could Benefit?

Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

N Engl J Med. 2019 May 16;380(20):1971-1972. doi: 10.1056/NEJMc1808565. No abstract available.

PMID:
31091381
6.

Mitochondrial Dysfunction in Parkinson's Disease-Cause or Consequence?

Chen C, Turnbull DM, Reeve AK.

Biology (Basel). 2019 May 11;8(2). pii: E38. doi: 10.3390/biology8020038. Review.

7.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M.

Cell Rep. 2019 Apr 2;27(1):321. doi: 10.1016/j.celrep.2019.03.051. No abstract available.

8.

Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk.

Breininger SP, Malcomson FC, Afshar S, Turnbull DM, Greaves L, Mathers JC.

Proc Nutr Soc. 2019 Aug;78(3):426-437. doi: 10.1017/S0029665119000533. Epub 2019 Mar 22.

9.

A case-comparison study of pregnant women with mitochondrial disease - what to expect?

Feeney CL, Lim AZ, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R.

BJOG. 2019 Feb 24. doi: 10.1111/1471-0528.15667. [Epub ahead of print]

PMID:
30801962
10.

The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.

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.

Brain. 2019 Feb 1;142(2):391-411. doi: 10.1093/brain/awy320.

PMID:
30689758
11.

Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network.

Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M.

Cell Rep. 2019 Jan 22;26(4):996-1009.e4. doi: 10.1016/j.celrep.2019.01.010. Epub 2019 Jan 15. Erratum in: Cell Rep. 2019 Apr 2;27(1):321.

12.

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.

Boal RL, Ng YS, Pickett SJ, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R.

J Clin Endocrinol Metab. 2019 Jun 1;104(6):2057-2066. doi: 10.1210/jc.2018-00957.

13.

Diagnosis and Treatment of Mitochondrial Myopathies.

Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE.

Neurotherapeutics. 2018 Oct;15(4):943-953. doi: 10.1007/s13311-018-00674-4. Review.

14.

Mitochondrial donation: from test tube to clinic.

Gorman GS, McFarland R, Stewart J, Feeney C, Turnbull DM.

Lancet. 2018 Oct 6;392(10154):1191-1192. doi: 10.1016/S0140-6736(18)31868-3. No abstract available.

PMID:
30319102
15.

Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women.

Dodds RM, Davies K, Granic A, Hollingsworth KG, Warren C, Gorman G, Turnbull DM, Sayer AA.

Exp Gerontol. 2018 Nov;113:80-85. doi: 10.1016/j.exger.2018.09.020. Epub 2018 Sep 25.

16.

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.

Su T, Grady JP, Afshar S, McDonald SA, Taylor RW, Turnbull DM, Greaves LC.

J Pathol. 2018 Dec;246(4):427-432. doi: 10.1002/path.5156. Epub 2018 Nov 5.

17.

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

Santibanez-Koref M, Griffin H, Turnbull DM, Chinnery PF, Herbert M, Hudson G.

Mitochondrion. 2019 May;46:302-306. doi: 10.1016/j.mito.2018.08.003. Epub 2018 Aug 9.

18.

Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.

Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ.

Brain Pathol. 2019 Jan;29(1):97-113. doi: 10.1111/bpa.12640. Epub 2018 Oct 9.

PMID:
30021052
19.

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.

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, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M.

Ann Neurol. 2018 Aug;84(2):289-301. doi: 10.1002/ana.25288. Epub 2018 Aug 21.

20.

Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study.

Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA.

Pulm Circ. 2018 Apr-Jun;8(2):2045894018768290. doi: 10.1177/2045894018768290.

21.

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 May;31:166-173. doi: 10.1016/j.ebiom.2018.04.017. Epub 2018 Apr 25.

22.

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 Jun;10(6). pii: e8262. doi: 10.15252/emmm.201708262.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

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.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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.

37.

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.

38.

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.

39.

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.

40.

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
41.

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.

42.

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.

43.

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.

44.

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.

45.

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
46.

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
47.

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.

48.

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.

49.

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.

50.

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.

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