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Items: 1 to 50 of 90

1.

Height as a clinical biomarker of disease burden in adult mitochondrial disease.

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

J Clin Endocrinol Metab. 2018 Nov 13. doi: 10.1210/jc.2018-00957. [Epub ahead of print]

PMID:
30423112
2.

Age- and Genotype-Specific Effects of the Angiotensin-Converting Enzyme Inhibitor Lisinopril on Mitochondrial and Metabolic Parameters in Drosophila melanogaster.

Ederer KA, Jin K, Bouslog S, Wang L, Gorman GS, Rowe GC, Abadir P, Raftery D, Moellering D, Promislow D, Jumbo-Lucioni P, De Luca M.

Int J Mol Sci. 2018 Oct 26;19(11). pii: E3351. doi: 10.3390/ijms19113351.

3.

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
4.

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.

Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW.

Hum Mol Genet. 2018 Oct 4. doi: 10.1093/hmg/ddy294. [Epub ahead of print]

PMID:
30285085
5.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

6.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

7.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG.

Haematologica. 2018 Jul 5. pii: haematol.2018.194464. doi: 10.3324/haematol.2018.194464. [Epub ahead of print] No abstract available.

8.

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.

9.

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.

10.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Müller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmüller H, Chinnery PF, Roos A, Swan LE, Horvath R.

Neurology. 2018 May 22;90(21):e1842-e1848. doi: 10.1212/WNL.0000000000005566. Epub 2018 May 2.

11.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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
17.

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.

18.

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.

19.

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.

20.

Novel reproductive technologies to prevent mitochondrial disease.

Craven L, Tang MX, Gorman GS, De Sutter P, Heindryckx B.

Hum Reprod Update. 2017 Sep 1;23(5):501-519. doi: 10.1093/humupd/dmx018. Review.

PMID:
28651360
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.

Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review.

Jimenez-Moreno AC, Newman J, Charman SJ, Catt M, Trenell MI, Gorman GS, Hogrel JY, Lochmüller H.

J Neuromuscul Dis. 2017;4(1):25-52. doi: 10.3233/JND-160195. Review.

23.

Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.

Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JA, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM.

J Neuromuscul Dis. 2015 Oct 7;2(4):409-419.

24.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM.

Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Review.

25.

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
26.

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.

27.

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.

28.

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.

29.

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.

30.

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
31.

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Kullar PJ, Quail J, Lindsey P, Wilson JA, Horvath R, Yu-Wai-Man P, Gorman GS, Taylor RW, Ng Y, McFarland R, Moore BC, Chinnery PF.

Brain. 2016 Jun;139(Pt 6):e33. doi: 10.1093/brain/aww051. Epub 2016 Mar 25. No abstract available.

32.

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
33.

Epilepsy in adults with mitochondrial disease: A cohort study.

Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM.

Ann Neurol. 2015 Dec;78(6):949-57. doi: 10.1002/ana.24525. Epub 2015 Nov 17.

34.

Adult-onset myoclonus ataxia associated with the mitochondrial m.8993T>C "NARP" mutation.

Martikainen MH, Gorman GS, Goldsmith P, Burn DJ, Turnbull DM, Schaefer AM.

Mov Disord. 2015 Sep;30(10):1432-3. doi: 10.1002/mds.26358. Epub 2015 Aug 12. No abstract available.

35.

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.

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, Gorman GS.

Eur Heart J. 2016 Aug 21;37(32):2552-9. doi: 10.1093/eurheartj/ehv306. Epub 2015 Jul 17.

36.

Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.

Newman J, Galna B, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Taylor RW, Rochester L, Gorman GS.

J Neuromuscul Dis. 2015 Jun 4;2(2):151-155.

37.

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

Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM.

Neuromuscul Disord. 2015 Jul;25(7):563-6. doi: 10.1016/j.nmd.2015.03.001. Epub 2015 Apr 23.

38.

Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop.

van der Westhuizen FH, Sinxadi PZ, Dandara C, Smuts I, Riordan G, Meldau S, Malik AN, Sweeney MG, Tsai Y, Towers GW, Louw R, Gorman GS, Payne BA, Soodyall H, Pepper MS, Elson JL.

Hum Mutat. 2015 May;36(5):569-71. doi: 10.1002/humu.22789. No abstract available.

PMID:
25764011
39.

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

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.

Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.

40.

Mitochondrial donation--how many women could benefit?

Gorman GS, Grady JP, Turnbull DM.

N Engl J Med. 2015 Feb 26;372(9):885-887. doi: 10.1056/NEJMc1500960. Epub 2015 Jan 28.

41.

Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.

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.

Clin Sci (Lond). 2015 Jun;128(12):895-904. doi: 10.1042/CS20140705.

42.

Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.

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, Taylor RW.

JAMA Neurol. 2015 Jan;72(1):106-11. doi: 10.1001/jamaneurol.2014.1753.

PMID:
25420100
43.

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

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, Taylor RW, Gorman GS, Rahman S, Hanna MG.

Kidney Int. 2015 Mar;87(3):610-22. doi: 10.1038/ki.2014.297. Epub 2014 Sep 10.

PMID:
25207879
44.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

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, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PMID:
25058219
45.

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

Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS.

Neuromuscul Disord. 2014 Jun;24(6):533-6. doi: 10.1016/j.nmd.2014.03.011. Epub 2014 Apr 1.

46.

RRM2B-Related Mitochondrial Disease.

Gorman GS, Taylor RW.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2014 Apr 17.

47.

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.

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, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF.

Brain. 2014 May;137(Pt 5):1323-36. doi: 10.1093/brain/awu060. Epub 2014 Apr 10.

48.

Adult-onset Mendelian PEO Associated with Mitochondrial Disease.

Sommerville EW, Chinnery PF, Gorman GS, Taylor RW.

J Neuromuscul Dis. 2014;1(2):119-133.

PMID:
27858775
49.

Disease progression in patients with single, large-scale mitochondrial DNA deletions.

Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R.

Brain. 2014 Feb;137(Pt 2):323-34. doi: 10.1093/brain/awt321. Epub 2013 Nov 25.

50.

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.

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, Taylor RW.

Neurology. 2013 Dec 3;81(23):2051-3. doi: 10.1212/01.wnl.0000436931.94291.e6. Epub 2013 Nov 6.

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