Staff Profile | Faculty of Medical Sciences

Dr Grainne Gorman

Director, Wellcome Centre Mitochondrial

Email: grainne.gorman@ncl.ac.uk
Telephone: +44 (0) 191 208 6365
Address: Mitochondrial Research Group
Medical School
Framlington Place
newcastle University

Publications

Stefanetti RJ, Blain A, Jimenez-Moreno C, Errington L, Ng YS, McFarland R, Turnbull DM, Newman J, Gorman GS. Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]. Wellcome Open Research 2020, 5(84).
Russell OM, Gorman GS, Lightowlers RN, Turnbull DM. Mitochondrial Diseases: Hope for the Future. Cell 2020, 181(1), 168-188.
Moore HL, Blain AP, Turnbull DM, Gorman GS. Systematic review of cognitive deficits in adult mitochondrial disease. European Journal of Neurology 2020, 27(1), 3-17.
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. A case‐comparison study of pregnant women with mitochondrial disease – what to expect?. BJOG: An International Journal of Obstetrics and Gynaecology 2019, 126(11), 1380-1389.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Faber CG, Merkies ISJ, Gorman G, Turner C, Lochmuller H. Activities of daily living in myotonic dystrophy type 1. Acta Neurologica Scandinavica 2019, epub ahead of print.
Jimenez-Moreno AC, Nikolenko N, Kierkegaard M, Blaine AP, Newman J, Massey C, Moat D, Sodhi J, Atalaia A, Gorman G, Turner C, Lochmuller H. Analysis of the functional capacity outcome measures for myotonic dystrophy. Annals of Clinical and Translational Neurology 2019, 6(8), 1487-1497.
Jimenez-Moreno AC, Charman SJ, Nikolenko N, Larweh M, Turner C, Gorman G, Lochmuller H, Catt M. Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy. Disability and Rehabilitation 2019, 41(24), 2972-2978.
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 2019, 6(5), 826-836.
Landfeldt E, Nikolenko N, Jimenez-Moreno C, Cumming S, Monckton DG, Gorman G, Turner C, Lochmuller H. Disease burden of myotonic dystrophy type 1. Journal of Neurology 2019, 266(4), 988-1006.
Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T. Height as a clinical biomarker of disease burden in adult mitochondrial disease. Journal of Clinical Endocrinology and Metabolism 2019, 104(6), 2057-2066.
Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. Clinical Genetics 2019, 97(2), 276-286.
Sommerville EW, Zhou X-L, Olahova 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 E-D, Thiffault I, Tyynismaa H, Taylor RW. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. Human Molecular Genetics 2019, 28(2), 258-268.
Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals of Clinical and Translational Neurology 2019, 6(3), 515-524.
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 2020, 139, 219-221.
Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Mitochondrial donation - Which women could benefit?. New England Journal of Medicine 2019, 380(20), 1971-1972.
Braz LP, Ng YS, Gorman GS, Schafer AM, McFarland R, Taylor RW, Turnbull DM, Whittaker RG. Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study. Neurology Clinical Practice 2019, ePub ahead of Print.
Koene S, Jimenez-Moreno AC, Gorman GS. Outcome Measures and Quality of Life in Mitochondrial Diseases. In: Michelangelo Mancuso and Thomas Klopstock, ed. Diagnosis and Management of Mitochondrial Disorders. Cham: Springer, 2019, pp.317-329.
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. Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study. Annals of Neurology 2019, 86(2), 310-315.
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. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018, 30, 86-93.
Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM, Kierkegaard M, Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton D, Lochmuller H, Catt M, Faber C, Hapca A, Donnan P, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen B, Nikolaus S, Cornelissen Y, van Nimwegen M, Klerks E, Bouman S, Heskamp L, Heerschap A, Rahmadi R, Groot P, Heskes T, Kapusta K, Abghari S, Aschrafi A, Poelmans G, Raaphorst J, Trenell M, van Laar S, Wood L, Cassidy S, Newman J, Charman S, Steffaneti R, Taylor L, Brownrigg A, Day S, Atalaya A, Schuller A, Stahl K, Kunzel H, Wolf M, Jelinek A, Lignier B, Couppey F, Delmas S, Deux J-F, Hankiewicz K, Dogan C, Minier L, Chevalier P, Hamadouche A, Adam B, Hannah M, McKenzie E, Rauchhaus P, Van Hees V, Catt S, Schwalber A, Merkies I, Dittrich J. Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. The Lancet Neurology 2018, 17(8), 671-680.
Gorman GS, McFarland R, Stewart J, Feeney C, Turnbull DM. Mitochondrial donation: from test tube to clinic. The Lancet 2018, 392(10154), 1191-1192.
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 2018, 113, 80-85.
Grady JP, Pickett SJ, Ng YS, Alston CI, 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 2018, 10(6), e8262.
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. Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology 2018, 90(21), e1842-e1848.
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 2018, 83(1), 115-130.
Pickett S, 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 2018, 5(3), 333-345.
Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Dominguez-Gonzalez 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, Camara Y, Madruga-Garrido M, Dominguez-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. Retrospective natural history of thymidine kinase 2 deficiency. Journal of Medical Genetics 2018, 55(8), 515-521.
Craven L, Murphy J, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Scientific and Ethical Issues in Mitochondrial Donation. New Bioethics 2018, 24(1), 57-73.
Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG. Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. Haematologica 2018, 103(12), e564-e566.
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 2018, 8(2), 1-5.
Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR. 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. Epilepsia Open 2018, 3(1), 103-108.
Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson N-G, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Molecular Cell 2018, 69(1), 9-23.e6.
Lax NZ, Gorman GS, Turnbull DM. Central nervous system involvement in mitochondrial disease. Neuropathology and Applied Neurobiology 2017, 43(2), 102-118.
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. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology 2017, 74(6), 686-694.
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 2017, 25(10), 1162-1164.
Mancuso M, McFarland R, Klopstock T, Hirano M, Artuch R, Bertini E, Bindoff L, Carelli V, Gorman G, Hirano M, Horvath R, Kaufmann P, Klopstock T, Koga Y, Koene S, Lamperti C, McFarland R, Mancuso M, Montoya J, Javier Perez-Minguez Caneda F, Procaccio V, Prokisch H, Rahman S, Santantonio P, Schulke M, Servidei S, Shungu DC, Siciliano G, Smeitink J, Taivassalo T, Thompson JLP, Turnbull D, Van der Veer E, Yeske PE, Zeviani M. 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 2017, 27(12), 1126-1137.
Jimenez-Moreno AC, Newman J, Charman SJ, Catt M, Trenell MI, Gorman GS, Hogrel J-Y, Lochmuller H. Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review. Journal of Neuromuscular Diseases 2017, 4(1), 25-52.
Jimenez-Moreno AC, Newman J, Charman SJ, Catt M, Trenell MI, Gorman GS, Hogrel JY, Lochmüller H. Measuring Habitual Physical Activity in Neuromuscular Disorders: A Systematic Review. Journal of Neuromuscular Diseases 2017, 4(1), 25-52.
Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW. Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. Neurology Genetics 2017, 3(6), e202.
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. Pathophysiology of exercise intolerance in chronic diseases: the role of diminished cardiac performance in mitochondrial and heart failure patients. Open Heart 2017, 4, e000632.
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 2016, 73(6), 668-674.
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 2016, 42(2), 180-193.
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 2016, 2, 16080.
Bansagi B, O'Sullivan J, Mueller J, Duff J, Miller J, Gorman G, Swan L, Horvath R. Multifocal motor neuropathy caused by phosphatase and tensin homologue (PTEN) mutation. In: 6th International Charcot-Marie-Tooth and Related Neuropathy Consortium (CMTR) Meeting. 2016, Venice-Mestre, Italy: Wiley-Blackwell Publishing, Inc.
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 WHW, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Molecular Genetics and Metabolism 2016, 119(3), 187-206.
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. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurology Genetics 2016, 2(4), e82.
Whittaker RG, Gorman G, Ng Y, Turnbull DM. Prevalence and Outcome of Mitochondrial Epilepsy Reply. Annals of Neurology 2016, 80(2), 314-314.
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 2016, 80(5), 686-692.
Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Molecular Genetics and Metabolism 2016, 118(3), 178-184.
Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BH, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Seattle: Elsevier BV.
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. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European Heart Journal 2016, 37(32), 2552-2559.
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 2016, 6, 30610.
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. In: 2015 ABN Annual Meeting. 2015, London, UK: BMJ Group.
Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JAL, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. Journal of Neuromuscular Diseases 2015, 2(4), 409-419.
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 2015, 30(10), 1432-1433.
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. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28. JAMA Neurology 2015, 72(1), 106-111.
van Engelen B, Abghari S, Aschrafi A, Bouman S, Cornelissen Y, Glennon J, Groot P, Heerschap A, Heskamp L, Heskes T, Kapusta K, Klerks E, Knoop H, Maas D, Okkersen K, Poelmans G, Rahmadi R, van Nimwegen M, Gorman G, Moreno CJ, Lochmuller H, Trenell M, van Laar S, Wood L, Schoser B, Wenninger S, Schuller A, Auguston R, Baptiste L, Barau C, Bassez G, Chevalier P, Couppey F, Delmas S, Deux J-F, Dogan C, Hamadouche A, Hankiewicz K, Lhermet L, Minier L, Rialland A, Schmitz D, Monckton DG, Cumming SA, Adam B, Donnan P, Hannah M, Hogarth F, Littleford R, McKenzie E, Rauchhaus P, Wilkie E, Williamson J, Catt M, Dittrich J, Schwalber A, Treweek S. Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial. Trials 2015, 16(1), 244.
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 2015, 78(6), 949-957.
Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Man PY, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial Donation: How Many Women Could Benefit?. New England Journal of Medicine 2015, 372(9), 885-887.
Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HAL, Greaves LC, He LP, 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 2015, 128(12), 895-904.
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 2015, 25(7), 563-566.
Newman J, Galna B, Jakovljevic D, Bates M, Schaefer A, McFarland R, Turnbull D, Trenell M, Taylor R, Rochester L, Gorman G. Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease. Journal Of Neuromuscular Diseases 2015, 2(2), 151-155.
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 2015, 77(5), 753-759.
Ng YS, Gorman GS, Turnbull DM, Martikainen MH. The diagnosis of posterior reversible encephalopathy syndrome. Lancet Neurology 2015, 14(11), 1073-1073.
Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RDS, 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. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney International 2015, 87(3), 610-622.
Allen J, Gorman G. Thermographic assessment of the presence of fatty tumours in myoclonic epilepsy with ragged red fibres. In: Francis Ring, Anna Jung, Janusz Zuber, ed. Infrared Imaging: A Casebook in Clinical Medicine. Institute of Physics Publishing, 2015.
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. Understanding the Implications of Mitochondrial DNA Variation in the Health of Black Southern African Populations: The 2014 Workshop. Human Mutation 2015, 36(5), 569-571.
Keogh MJ, Aribisala BS, He J, Tulip E, Butteriss D, Morris C, Gorman G, Horvath R, Chinnery PF, Blamire AM. Voxel-based analysis in neuroferritinopathy expands the phenotype and determines radiological correlates of disease severity. Journal of Neurology 2015, 262(10), 2232-2240.
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?. In: Association of British Neurologists Annual Meeting. 2014, Cardiff: BMJ Publishing Group.
Sommerville EW, Chinnery PF, Gorman GS, Taylor RW. Adult-onset Mendelian PEO Associated with Mitochondrial Disease. Journal of Neuromuscular Diseases 2014, 1(2), 119-133.
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 2014, 261(1), 73-82.
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 2014, 137(2), 323-334.
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 2014, 24(6), 533-536.
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. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014, 137(5), 1323-1336.
Frith J, Ng WF, Day CP, Payne B, Sheerin N, Gorman G, Jones D, Newton JL. Orthostatic intolerance is common in chronic disease - A clinical cohort study. International Journal of Cardiology 2014, 174(3), 861-862.
Gorman GS, Wood JS, Trenell MI. Physical Activity, Exercise, and Aging. In: Kirkwood,TBL; Cooper,CL, ed. Wellbeing: A Complete Reference Guide, Volume IV, Wellbeing in Later Life. Wiley-Blackwell, 2014, pp.105-124.
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. In: Association of British Neurologists Annual Meeting. 2014, Cardiff, UK: BMJ Publishing Group.
Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He LP, 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 AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. Journal of the American Medical Association 2014, 312(1), 68-77.
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, Penisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Glaser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmuller H. 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 2013, 34(8), 1111-1118.
Gorman GS, Pitceathly RDS, Turnbull DM, Taylor RW. RRM2B-Related Mitochondrial Disease. In: Mitochondrial Disorders Caused by Nuclear Genes. New York, NY, USA: Springer New York, 2013, pp.171-182.
Jones KL, Whittaker RG, Miller JA, Jakovljevic DG, Turnbull DM, Gorman GS. Can high intensity interval training improve functional capacity and clinical symptoms in inflammatory and mitochondrial myopathies?. In: 6th Annual Translational Research Conference. 2013, Oxford, UK.
Griffiths PG, Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Blamire AM, Chinnery PF, Yu-Wai-Man P. Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures. In: Mitochondrial Medicine 2013. 2013, Newport Beach: Elsevier BV.
Bates MG, Hollingsworth KG, Newman J, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. European Heart Journal - Cardiovascular Imaging 2013, 14(7), 650-658.
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, Taylor RW, Trenell MI, Gorman GS. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease. International Journal of Cardiology 2013, 168(4), 3599-3608.
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. In: Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP). 2013, London, UK: BMJ Publishing Group.
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 2013, 8(9), e75048.
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 2013, 23(4), 324-329.
Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He LP, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions. Neurology 2013, 81(23), 2051-2053.
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 2013, 22(23), 4739-4747.
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. In: Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP). 2013, London, UK: BMJ Publishing Group.
Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmuller H, Holinski-Feder E, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(2), 174-178.
Pitceathly RDS, Smith C, Fratter C, Alston CL, He LP, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain 2012, 135(11), 3392-3403.
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 2012, 22(7), 592-596.
Maddison J, Straub V, Lochmuller H, Turnbull D, Chinnery P, Trennell M, McFarland R, Gorman G, Horvath R, Busbhy K. Clinical research activity in Newcastle MRC centre. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
Bates MGD, Hollingsworth KG, Newman J, Jakovljevic DG, Keavney BD, Blamire AM, MacGowan GA, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. In: Annual Conference of the British Cardiovascular Society (BCS). 2012, Manchester, UK: BMJ Group.
Bates M, Hollingsworth K, Taylor R, Turnbull D, Trenell MI, Gorman G. Concentric remodeling and increased myocardial torsion in mitochondrial DNA point mutation carriers. In: 61st Annual Scientific Session and Expo of the American College of Cardiology (ACC). 2012, Chicago, Illinois, USA: Elsevier Inc.
Yu-Wai-Man P, Gorman GS, Taylor RW, Turnbull DM. Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. British Journal of Ophthalmology 2012, 96(12), 1536-1536.
Bates MG, Hollingsworth KG, Newman J, Jakovljevic D, Dixon BJ, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Evidence of early cardiac impairment in m.3243A > G mutation carriers. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
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. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
Newman J, Jakovljevic D, Bates MG, Turnbull DM, Galna B, Trenell MI, Gorman GS. Improving clinical trials evaluation: physiological and functional correlates in mitochondrial disease. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
Moore HL, Allerhand M, Trennell M, Deary IJ, Turnbull DM, Gorman GS. Processing speed is impaired in patients with Mitochondrial Disease. In: UK Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne: Pergamon.
McNeill A, Gorman G, Khan A, Horvath R, Blamire AM, Chinnery PF. Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2*Relaxation Rate. American Journal of Neuroradiology 2012, 33(9), 1810-1813.
Murphy JL, Newman J, Ratnaike TE, Spendiff S, Falkous G, Blakely EL, Alston CL, Taylor RW, Trenell MI, Gorman GS, Turnbull DM. Resistance training in patients with mitochondrial myopathy. In: United Nations Environment Programme, Mineral Resources Forum. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
Smith C, Evans J, Alston CL, Blakely EL, Seller A, Paceathly RDS, Schaefer AM, Turnbull DM, Taylor RW, Gorman GS, Poulton J, Fratter C. The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing. In: British Human Genetics Conference. 2012, Coventry, UK: BMJ Group.
Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. The minimum prevalence of CADASIL in northeast England. Neurology 2012, 78(13), 1025-1027.
Neeve VCM, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombes A, Jardel C, Hirano M, DiMauro S, De Vries M, Smeitink J, Smits BW, de Coo IFM, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmuller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?. Brain 2012, 135(12), 3614-3626.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Pitceathly RDS, Hanna MG, Poulton J, Brierley C, Staunton TG, Tumpenny PD, Schaefer AM, Chinnery PF, Horvath R, Tumbull DM, Gorman GS. Dominant and recessive RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. In: Journal of Medical Genetics: British Human Genetics Conference. 2011, Warwick, Coventry: BMJ Group.
Fratter C, Raman P, Alston C, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
Apabhai S, Gorman GS, Sutton L, Elson JL, Ploetz T, Turnbull DM, Trenell MI. Habitual Physical Activity in Mitochondrial Disease. PLoS One 2011, 6(7), e22294.
Horvath R, Reilich R, Krause S, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H. Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. RRM2B mutations are frequent in familial peo with multiple mtDNA deletions. Neurology 2011, 76(23), 2032-2034.
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, Holinski-Feder E, Walter MC, Schoser B, Lochmuller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. Journal of Neurology 2011, 258(11), 1987-1997.
Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC. Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”. Journal of Inherited Metabolic Disease 2021, 44(1), 6-7.
Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports 2020, 54(1), 45-53.
Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A. Lower urinary tract dysfunction in adult patients with mitochondrial disease. Neurourology and Urodynamics 2020, 39(8), 2253-2263.
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 2020, 21(1), 248.