Wellcome Trust Centre For Mitochondrial Research

Professor Robert McFarland

Personal Biography

Following my early education in Belfast I went up to Oxford to read Medicine in 1987. After 3 years of pre-clinical study and a BA in Physiological Sciences I, like many other Oxbridge medical students, was drawn to the bright lights of London and spent 3 years studying clinical medicine at King’s College Hospital, qualifying in 1993. Following ‘house’ jobs and 3 years training in paediatrics in East London I moved to a paediatric training rotation in Newcastle in 1997. In 2000 I began my PhD studies as a Wellcome Trust Clinical Research Training Fellow with supervision from Prof Doug Turnbull and Prof Bob Lightowlers. A Medical Research Council Clinician Scientist Fellowship allowed me to continue my research and complete my clinical training in paediatric neurology. In 2006 I was appointed as an Honorary Consultant Paediatric Neurologist to the Newcastle upon Tyne NHS Hospitals Foundation Trust and in 2008 I was awarded a HEFCE/DoH Clinical Senior Lectureship in Paediatric Neurology. I lead the Newcastle paediatric mitochondrial disease service for the nationally commissioned Rare Mitochondrial Disease Service for Adults and Children and together with Dr Jane Stewart and Prof Rob Taylor run the Pre-implantation Genetic Diagnosis Service for Mitochondrial DNA Disease.

Research Biography

In 2000 I began my research career studying the molecular consequences and associated clinical phenotypes of mitochondrial tRNA point mutations. Since then my research has included the identification of mitochondrial and nuclear gene defects causing disease in children, factors determining pathogenicity of mitochondrial DNA mutations and clinical research. The latter has specifically involved the development of clinical assessment tools (NMDAS and NPMDS), drug trials and more recently, bringing together a living cohort of 1000 individuals with confirmed mitochondrial disease

Research Interests

My research aims are to understand the pathological processes that cause mitochondrial disease in children, explore the molecular aetiology of these diseases and dissect out the factors that influence disease expression. A related research theme is exploration of the natural history of mitochondrial disease, an area that has been greatly facilitated by the development of the multi-centre MRC Mitochondrial Disease Patient Cohort Study (UK) on which I have taken a national lead. The Cohort is also proving a valuable resource for recruitment to clinical trials, another area in which I have a keen interest.

Awards, Honours and Professional service

1990 BA University of Oxford

1993 MBBS University of London

2007 PhD University of Newcastle upon Tyne

1996 MRCP (UK) Royal College of Physicians

1997 MRCPCH Royal College of Paediatrics and Child Health

2000 Wellcome Clinical Research Training Fellowship

2003 Medical Research Council Clinician Scientist Fellowship

2008 Dept. of Health / Higher Education Funding Council for England: Clinical Senior Lecturer Award

2007 British Paediatric Neurology Association ‘MacKeith Prize’


Membership of Professional Societies

1996 Royal College of Physicians

1997 Royal College of Paediatrics and Child Health

2004 British Paediatric Neurology Association

2010 British Myology Society


Recent Key Publications


Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain. 2015 Dec;138(Pt 12):3503-19.

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 mtDNA mutations related to adult mitochondrial disease. Ann. Neurol. 2015;77:753-759.

Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism. Cell Metab. 2015;21:417-427.

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? N. Engl. J. Med. 2015;372:885-887.

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. Eur. J. Hum. Genet. 2014;22:1255-1259.

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. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014;312:68-77.

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;137:323-334.

Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 Cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am. J. Hum. Genet. 2013;93:471-481.

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, Smeitink J, Chinnery PF. New treatments for mitochondrial disease – no time to drop our standards. Nat. Rev. Neurol. 2013;9:474-481.

Bates MG, Nesbitt V, Kirk R, He L, Blakely EL, Alston CL, Brodlie M, Hasan A, Taylor RW, McFarland R. Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study. Int. J. Cardiol. 2012;155:305-306.



Alston CL; Heidler J; Dibley MG; Kremer LS; Taylor LS; Fratter C; French CE; Glasgow RIC; Feichtinger RG; Delon I; Pagnamenta AT; Dolling H; Lemonde H; Aiton N; Bjørnstad A; Henneke L; Gärtner J; Thiele H; Tauchmannova K; Quaghebeur G; Houstek J; Sperl W; Raymond FL; Prokisch H; Mayr JA; McFarland R; Poulton J; Ryan MT; Wittig I; Henneke M; Taylor RW, 2018. Biallelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.  Am J Hum Genet.

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, 2018. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.  EBioMedicine 30:86-93

Hikmat O; Tzoulis C; Klingenberg C; Rasmussen M; Tallaksen CME; Brodtkorb E; Fiskerstrand T; McFarland R; Rahman S; Bindoff LA, 2018. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.  J Inherit Metab Dis 41(1):153

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, 2018. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions.  Ann Neurol 83(1):115-130

Alaimo JT; Besse A; Alston CL; Pang K; Appadurai V; Samanta M; Smpokou P; McFarland R; Taylor RW; Bonnen PE, 2018. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion.  Hum Mutat 39(4):537-549

Bruni F; Di Meo I; Bellacchio E; Webb BD; McFarland R; Chrzanowska-Lightowlers ZMA; He L; Skorupa E; Moroni I; Ardissone A; Walczak A; Tyynismaa H; Isohanni P; Mandel H; Prokisch H; Haack T; Bonnen PE; Enrico B; Pronicka E; Ghezzi D; Taylor RW; Diodato D, 2018. Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.  Hum Mutat 39(4):563-578

O'Byrne JJ; Tarailo-Graovac M; Ghani A; Champion M; Deshpande C; Dursun A; Ozgul RK; Freisinger P; Garber I; Haack TB; Horvath R; Barić I; Husain RA; Kluijtmans LAJ; Kotzaeridou U; Morris AA; Ross CJ; Santra S; Smeitink J; Tarnopolsky M; Wortmann SB; Mayr JA; Brunner-Krainz M; Prokisch H; Wasserman WW; Wevers RA; Engelke UF; Rodenburg RJ; Ting TW; McFarland R; Taylor RW; Salvarinova R; van Karnebeek CDM, 2018. The genotypic and phenotypic spectrum of MTO1 deficiency.  Mol Genet Metab 123(1):28-42

Oláhová M; Yoon WH; Thompson K; Jangam S; Fernandez L; Davidson JM; Kyle JE; Grove ME; Fisk DG; Kohler JN; Holmes M; Dries AM; Huang Y; Zhao C; Contrepois K; Zappala Z; Frésard L; Waggott D; Zink EM; Kim YM; Heyman HM; Stratton KG; Webb-Robertson BM; Snyder M; Merker JD; Montgomery SB; Fisher PG; Feichtinger RG; Mayr JA; Hall J; Barbosa IA; Simpson MA; Deshpande C; Waters KM; Koeller DM; Metz TO; Morris AA; Schelley S; Cowan T; Friederich MW; McFarland R; Van Hove JLK; Enns GM; Yamamoto S; Ashley EA; Wangler MF; Taylor RW; Bellen HJ; Bernstein JA; Wheeler MT, 2018. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.  Am J Hum Genet 102(3):494-504

Thompson K; Mai N; Oláhová M; Scialó F; Formosa LE; Stroud DA; Garrett M; Lax NZ; Robertson FM; Jou C; Nascimento A; Ortez C; Jimenez-Mallebrera C; Hardy SA; He L; Brown GK; Marttinen P; McFarland R; Sanz A; Battersby BJ; Bonnen PE; Ryan MT; Chrzanowska-Lightowlers ZM; Lightowlers RN; Taylor RW, 2018. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.  EMBO Mol Med.

Craven L; Murphy J; Turnbull DM; Taylor RW; Gorman GS; McFarland R, 2018. Scientific and Ethical Issues in Mitochondrial Donation.  New Bioeth 24(1):57-73

Pickett SJ; Grady JP; Ng YS; Gorman GS; Schaefer AM; Wilson IJ; Cordell HJ; Turnbull DM; Taylor RW; McFarland R, 2018. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors.  Ann Clin Transl Neurol 5(3):333-345

Ng YS; van Ruiten H; Lai HM; Scott R; Ramesh V; Horridge K; Taylor RW; Turnbull DM; Gorman GS; McFarland R; Baker MR, 2018. 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 3(1):103-108

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, 2018. Retrospective natural history of thymidine kinase 2 deficiency.  J Med Genet 55(8):515-521

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, 2018. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease.  EMBO Mol Med 10.

Hayhurst H; Anagnostou ME; Bogle HJ; Grady JP; Taylor RW; Bindoff LA; McFarland R; Turnbull DM; Lax NZ, 2018. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study.  Brain Pathol.

Repp BM; Mastantuono E; Alston CL; Schiff M; Haack TB; Rötig A; Ardissone A; Lombès A; Catarino CB; Diodato D; Schottmann G; Poulton J; Burlina A; Jonckheere A; Munnich A; Rolinski B; Ghezzi D; Rokicki D; Wellesley D; Martinelli D; Wenhong D; Lamantea E; Ostergaard E; Pronicka E; Pierre G; Smeets HJM; Wittig I; Scurr I; de Coo IFM; Moroni I; Smet J; Mayr JA; Dai L; de Meirleir L; Schuelke M; Zeviani M; Morscher RJ; McFarland R; Seneca S; Klopstock T; Meitinger T; Wieland T; Strom TM; Herberg U; Ahting U; Sperl W; Nassogne MC; Ling H; Fang F; Freisinger P; Van Coster R; Strecker V; Taylor RW; Häberle J; Vockley J; Prokisch H; Wortmann S, 2018. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?  Orphanet J Rare Dis 13(1):120

Koene S; van Bon L; Bertini E; Jimenez-Moreno C; van der Giessen L; de Groot I; McFarland R; Parikh S; Rahman S; Wood M; Zeman J; Janssen A; Smeitink J, 2018. Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop.  J Inherit Metab Dis.

Oláhová M; Thompson K; Hardy SA; Barbosa IA; Besse A; Anagnostou ME; White K; Davey T; Simpson MA; Champion M; Enns G; Schelley S; Lightowlers RN; Chrzanowska-Lightowlers ZM; McFarland R; Deshpande C; Bonnen PE; Taylor RW, 2017. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria.  J Inherit Metab Dis 40(1):121-130

Ulrick N; Goldstein A; Simons C; Taft RJ; Helman G; Pizzino A; Bloom M; Vogt J; Pysden K; Diodato D; Martinelli D; Monavari A; Buhas D; van Karnebeek CD; Dorboz I; Boespflug-Tanguy O; Rodriguez D; Tétreault M; Majewski J; Bernard G; Ng YS; McFarland R; Vanderver A, 2017. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.  Pediatr Neurol 66:59-62

Karaa A; Rahman S; Lombès A; Yu-Wai-Man P; Sheikh MK; Alai-Hansen S; Cohen BH; Dimmock D; Emrick L; Falk MJ; McCormack S; Mirsky D; Moore T; Parikh S; Shoffner J; Taivassalo T; Tarnopolsky M; Tein I; Odenkirchen JC; Goldstein A, 2017. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.  J Inherit Metab Dis 40(3):403-414

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, 2017. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.  JAMA Neurol 74(6):686-694

Martikainen MH; Grady JP; Ng YS; Alston CL; Gorman GS; Taylor RW; McFarland R; Turnbull DM, 2017. Decreased male reproductive success in association with mitochondrial dysfunction.  Eur J Hum Genet 25(10):1162-1164

Ortigoza-Escobar JD; Alfadhel M; Molero-Luis M; Darin N; Spiegel R; de Coo IF; Gerards M; Taylor RW; Artuch R; Nashabat M; Rodríguez-Pombo P; Tabarki B; Pérez-Dueñas B, 2017. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.  Ann Neurol 82(3):317-330

Hikmat O; Tzoulis C; Klingenberg C; Rasmussen M; Tallaksen CME; Brodtkorb E; Fiskerstrand T; McFarland R; Rahman S; Bindoff LA, 2017. The presence of anaemia negatively influences survival in patients with POLG disease.  J Inherit Metab Dis 40(6):861-866

Sommerville EW; Alston CL; Pyle A; He L; Falkous G; Naismith K; Chinnery PF; McFarland R; Taylor RW, 2017. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.  Neurol Genet 3(5):e187

Mancuso M; McFarland R; Klopstock T; Hirano M, 2017. International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy.  Neuromuscul Disord 27(12):1126-1137

Glasgow RIC; Thompson K; Barbosa IA; He L; Alston CL; Deshpande C; Simpson MA; Morris AAM; Neu A; Löbel U; Hall J; Prokisch H; Haack TB; Hempel M; McFarland R; Taylor RW, 2017. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.  Neurogenetics 18(4):227-235

Ahmed ST; Alston CL; Hopton S; He L; Hargreaves IP; Falkous G; Oláhová M; McFarland R; Turnbull DM; Rocha MC; Taylor RW, 2017. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency.  Sci Rep 7(1):15676

Sallevelt SC; de Die-Smulders CE; Hendrickx AT; Hellebrekers DM; de Coo IF; Alston CL; Knowles C; Taylor RW; McFarland R; Smeets HJ, 2017. De novo mtDNA point mutations are common and have a low recurrence risk.  J Med Genet 54(2):73-83

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, 2016. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.  Eur Heart J 37(32):2552-9

Barends M; Verschuren L; Morava E; Nesbitt V; Turnbull D; McFarland R, 2016. Causes of Death in Adults with Mitochondrial Disease.  JIMD Rep 26:103-13

Carrozzo R; Verrigni D; Rasmussen M; de Coo R; Amartino H; Bianchi M; Buhas D; Mesli S; Naess K; Born AP; Woldseth B; Prontera P; Batbayli M; Ravn K; Joensen F; Cordelli DM; Santorelli FM; Tulinius M; Darin N; Duno M; Jouvencel P; Burlina A; Stangoni G; Bertini E; Redonnet-Vernhet I; Wibrand F; Dionisi-Vici C; Uusimaa J; Vieira P; Osorio AN; McFarland R; Taylor RW; Holme E; Ostergaard E, 2016. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.  J Inherit Metab Dis 39(2):243-52

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, 2016. Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.  Brain 139(Pt 6):e33

Alston CL; Howard C; Oláhová M; Hardy SA; He L; Murray PG; O'Sullivan S; Doherty G; Shield JP; Hargreaves IP; Monavari AA; Knerr I; McCarthy P; Morris AA; Thorburn DR; Prokisch H; Clayton PE; McFarland R; Hughes J; Crushell E; Taylor RW, 2016. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.  J Med Genet 53(9):634-41

Martikainen MH; Ng YS; Gorman GS; Alston CL; Blakely EL; Schaefer AM; Chinnery PF; Burn DJ; Taylor RW; McFarland R; Turnbull DM, 2016. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.  JAMA Neurol 73(6):668-74

Metodiev MD; Thompson K; Alston CL; Morris AAM; He L; Assouline Z; Rio M; Bahi-Buisson N; Pyle A; Griffin H; Siira S; Filipovska A; Munnich A; Chinnery PF; McFarland R; Rötig A; Taylor RW, 2016. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.  Am J Hum Genet 98(5):993-1000

Koene S; Hendriks JCM; Dirks I; de Boer L; de Vries MC; Janssen MCH; Smuts I; Fung CW; Wong VCN; de Coo IRFM; Vill K; Stendel C; Klopstock T; Falk MJ; McCormick EM; McFarland R; de Groot IJM; Smeitink JAM, 2016. International Paediatric Mitochondrial Disease Scale.  J Inherit Metab Dis 39(5):705-712

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, 2016. Solid organ transplantation in primary mitochondrial disease: Proceed with caution.  Mol Genet Metab 118(3):178-84

Ng YS; Alston CL; Diodato D; Morris AA; Ulrick N; Kmoch S; Houštěk J; Martinelli D; Haghighi A; Atiq M; Gamero MA; Garcia-Martinez E; Kratochvílová H; Santra S; Brown RM; Brown GK; Ragge N; Monavari A; Pysden K; Ravn K; Casey JP; Khan A; Chakrapani A; Vassallo G; Simons C; McKeever K; O'Sullivan S; Childs AM; Østergaard E; Vanderver A; Goldstein A; Vogt J; Taylor RW; McFarland R, 2016. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.  J Med Genet 53(11):768-775

Gupta A; Colmenero I; Ragge NK; Blakely EL; He L; McFarland R; Taylor RW; Vogt J; Milford DV, 2016. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report.  BMC Res Notes 9:325

Ng YS; Lim M; Thomas G; McFarland R, 2016. Teaching NeuroImages: Neuroradiologic evolution of Leigh disease.  Neurology 87(14):e159-e160

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, 2016. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.  Ann Neurol 80(5):686-692

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, 2016. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.  Mol Genet Metab 119(3):187-206

Gorman GS; Chinnery PF; DiMauro S; Hirano M; Koga Y; McFarland R; Suomalainen A; Thorburn DR; Zeviani M; Turnbull DM, 2016. Mitochondrial diseases.  Nat Rev Dis Primers 2:16080

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, 2016. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.  Sci Rep 6:30610

Thompson K; Majd H; Dallabona C; Reinson K; King MS; Alston CL; He L; Lodi T; Jones SA; Fattal-Valevski A; Fraenkel ND; Saada A; Haham A; Isohanni P; Vara R; Barbosa IA; Simpson MA; Deshpande C; Puusepp S; Bonnen PE; Rodenburg RJ; Suomalainen A; Õunap K; Elpeleg O; Ferrero I; McFarland R; Kunji ER; Taylor RW, 2016. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.  Am J Hum Genet 99(4):860-876

Anagnostou ME; Ng YS; Taylor RW; McFarland R, 2016. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.  Epilepsia 57(10):1531-1545

Kennedy H; Haack TB; Hartill V; Mataković L; Baumgartner ER; Potter H; Mackay R; Alston CL; O'Sullivan S; McFarland R; Connolly G; Gannon C; King R; Mead S; Crozier I; Chan W; Florkowski CM; Sage M; Höfken T; Alhaddad B; Kremer LS; Kopajtich R; Feichtinger RG; Sperl W; Rodenburg RJ; Minet JC; Dobbie A; Strom TM; Meitinger T; George PM; Johnson CA; Taylor RW; Prokisch H; Doudney K; Mayr JA, 2016. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.  Am J Hum Genet 99(3):674-682

McKiernan P; Ball S; Santra S; Foster K; Fratter C; Poulton J; Craig K; McFarland R; Rahman S; Hargreaves I; Gupte G; Sharif K; Taylor RW, 2016. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.  J Pediatr Gastroenterol Nutr 63(6):592-597

Besse A; Wu P; Bruni F; Donti T; Graham BH; Craigen WJ; McFarland R; Moretti P; Lalani S; Scott KL; Taylor RW; Bonnen PE, 2015. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.  Cell Metab 21(3):417-27

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, 2015. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.  Kidney Int 87(3):610-22

Oláhová M; Haack TB; Alston CL; Houghton JA; He L; Morris AA; Brown GK; McFarland R; Chrzanowska-Lightowlers ZM; Lightowlers RN; Prokisch H; Taylor RW, 2015. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.  Eur J Hum Genet 23(7):935-9

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, 2015. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.  JAMA Neurol 72(1):106-11

Bonati LH; Dobson J; Featherstone RL; Ederle J; van der Worp HB; de Borst GJ; Mali WP; Beard JD; Cleveland T; Engelter ST; Lyrer PA; Ford GA; Dorman PJ; Brown MM, 2015. Long-term outcomes after stenting versus endarterectomy for treatment of symptomatic carotid stenosis: the International Carotid Stenting Study (ICSS) randomised trial.  Lancet 385(9967):529-38

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, 2015. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.  Clin Sci (Lond) 128(12):895-904

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, 2015. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.  Ann Neurol 77(5):753-9

Alston CL; Ceccatelli Berti C; Blakely EL; Oláhová M; He L; McMahon CJ; Olpin SE; Hargreaves IP; Nolli C; McFarland R; Goffrini P; O'Sullivan MJ; Taylor RW, 2015. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.  Hum Genet 134(8):869-79

Brito S; Thompson K; Campistol J; Colomer J; Hardy SA; He L; Fernández-Marmiesse A; Palacios L; Jou C; Jiménez-Mallebrera C; Armstrong J; Montero R; Artuch R; Tischner C; Wenz T; McFarland R; Taylor RW, 2015. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.  Front Genet 6:102

Oláhová M; Hardy SA; Hall J; Yarham JW; Haack TB; Wilson WC; Alston CL; He L; Aznauryan E; Brown RM; Brown GK; Morris AA; Mundy H; Broomfield A; Barbosa IA; Simpson MA; Deshpande C; Moeslinger D; Koch J; Stettner GM; Bonnen PE; Prokisch H; Lightowlers RN; McFarland R; Chrzanowska-Lightowlers ZM; Taylor RW, 2015. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.  Brain 138(Pt 12):3503-19

Gorman GS; Elson JL; Newman J; Payne B; McFarland R; Newton JL; Turnbull DM, 2015. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease.  Neuromuscul Disord 25(7):563-6

Newman J; Galna B; Jakovljevic DG; Bates MG; Schaefer AM; McFarland R; Turnbull DM; Trenell MI; Taylor RW; Rochester L; Gorman GS, 2015. Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease.  J Neuromuscul Dis 2(2):151-155

Brito S; Thompson K; Campistol J; Colomer J; Hardy SA; He L; Fernández-Marmiesse A; Palacios L; Jou C; Jiménez-Mallebrera C; Armstrong J; Montero R; Artuch R; Tischner C; Wenz T; McFarland R; Taylor RW, 2015. Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.  Front Genet 6:254

Whittaker RG; Devine HE; Gorman GS; Schaefer AM; Horvath R; Ng Y; Nesbitt V; Lax NZ; McFarland R; Cunningham MO; Taylor RW; Turnbull DM, 2015. Epilepsy in adults with mitochondrial disease: A cohort study.  Ann Neurol 78(6):949-57

Doig D; Turner EL; Dobson J; Featherstone RL; de Borst GJ; Stansby G; Beard JD; Engelter ST; Richards T; Brown MM, 2015. Risk Factors For Stroke, Myocardial Infarction, or Death Following Carotid Endarterectomy: Results From the International Carotid Stenting Study.  Eur J Vasc Endovasc Surg 50(6):688-94

Lax NZ; Alston CL; Schon K; Park SM; Krishnakumar D; He L; Falkous G; Ogilvy-Stuart A; Lees C; King RH; Hargreaves IP; Brown GK; McFarland R; Dean AF; Taylor RW, 2015. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.  J Neuropathol Exp Neurol 74(7):688-703

Grady JP; Campbell G; Ratnaike T; Blakely EL; Falkous G; Nesbitt V; Schaefer AM; McNally RJ; Gorman GS; Taylor RW; Turnbull DM; McFarland R, 2014. Disease progression in patients with single, large-scale mitochondrial DNA deletions.  Brain 137(Pt 2):323-34

Galna B; Newman J; Jakovljevic DG; Bates MG; Schaefer AM; McFarland R; Turnbull DM; Trenell MI; Gorman GS; Rochester L, 2014. Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences.  J Neurol 261(1):73-82

Almalki A; Alston CL; Parker A; Simonic I; Mehta SG; He L; Reza M; Oliveira JM; Lightowlers RN; McFarland R; Taylor RW; Chrzanowska-Lightowlers ZM, 2014. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.  Biochim Biophys Acta 1842(1):56-64

Yarham JW; Lamichhane TN; Pyle A; Mattijssen S; Baruffini E; Bruni F; Donnini C; Vassilev A; He L; Blakely EL; Griffin H; Santibanez-Koref M; Bindoff LA; Ferrero I; Chinnery PF; McFarland R; Maraia RJ; Taylor RW, 2014. Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA.  PLoS Genet 10(6):e1004424

Nesbitt V; Alston CL; Blakely EL; Fratter C; Feeney CL; Poulton J; Brown GK; Turnbull DM; Taylor RW; McFarland R, 2014. A national perspective on prenatal testing for mitochondrial disease.  Eur J Hum Genet 22(11):1255-9

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, 2014. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.  JAMA 312(1):68-77

Pitceathly RD; McFarland R, 2014. Mitochondrial myopathies in adults and children: management and therapy development.  Curr Opin Neurol 27(5):576-82

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, 2014. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.  Brain 137(Pt 5):1323-36

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; Smeitink J; Chinnery PF, 2013. New treatments for mitochondrial disease-no time to drop our standards.  Nat Rev Neurol 9(8):474-81

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, 2013. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.  Int J Cardiol 168(4):3599-608

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; Hammans SR; Turnbull DM; McFarland R; Taylor RW, 2013. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.  Hum Mutat 34(9):1260-8

Elson JL; Cadogan M; Apabhai S; Whittaker RG; Phillips A; Trennell MI; Horvath R; Taylor RW; McFarland R; McColl E; Turnbull DM; Gorman GS, 2013. Initial development and validation of a mitochondrial disease quality of life scale.  Neuromuscul Disord 23(4):324-9

Nesbitt V; Pitceathly RD; Turnbull DM; Taylor RW; Sweeney MG; Mudanohwo EE; Rahman S; Hanna MG; McFarland R, 2013. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management.  J Neurol Neurosurg Psychiatry 84(8):936-8

Yarham JW; Blakely EL; Alston CL; Roberts ME; Ealing J; Pal P; Turnbull DM; McFarland R; Taylor RW, 2013. The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.  J Neurol Sci 325(1-2):165-9

Blakely EL; Butterworth A; Hadden RD; Bodi I; He L; McFarland R; Taylor RW, 2012. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle.  Neuromuscul Disord 22(7):587-91

Lax NZ; Hepplewhite PD; Reeve AK; Nesbitt V; McFarland R; Jaros E; Taylor RW; Turnbull DM, 2012. Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.  J Neuropathol Exp Neurol 71(2):148-61

Nesbitt V; Morrison PJ; Crushell E; Donnelly DE; Alston CL; He L; McFarland R; Taylor RW, 2012. The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.  Dev Med Child Neurol 54(6):500-6

Tuppen HA; Naess K; Kennaway NG; Al-Dosary M; Lesko N; Yarham JW; Bruhn H; Wibom R; Nennesmo I; Weleber RG; Blakely EL; Taylor RW; McFarland R, 2012. Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.  Eur J Hum Genet 20(8):897-904

Hollingsworth KG; Gorman GS; Trenell MI; McFarland R; Taylor RW; Turnbull DM; MacGowan GA; Blamire AM; Chinnery PF, 2012. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.  Neuromuscul Disord 22(7):592-6

Elson JL; Sweeney MG; Procaccio V; Yarham JW; Salas A; Kong QP; van der Westhuizen FH; Pitceathly RD; Thorburn DR; Lott MT; Wallace DC; Taylor RW; McFarland R, 2012. Toward a mtDNA locus-specific mutation database using the LOVD platform.  Hum Mutat 33(9):1352-8

McFarland R, 2012. Cerebral folate deficiency--mishaps and misdirection.  Brain 135(Pt 7):2002-3

Yarham JW; McFarland R; Taylor RW; Elson JL, 2012. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.  Mitochondrion 12(5):533-8

Alston CL; Davison JE; Meloni F; van der Westhuizen FH; He L; Hornig-Do HT; Peet AC; Gissen P; Goffrini P; Ferrero I; Wassmer E; McFarland R; Taylor RW, 2012. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.  J Med Genet 49(9):569-77

Gilson C; McFarland R; Forsyth R, 2011. Autosomal dominant acute necrotising encephalopathy: a case report with possible disease-expression modification by coincidental homocysteinuria.  Eur J Paediatr Neurol 15(2):174-6

Cope TE; McFarland R; Schaefer A, 2011. Rapid-onset, linezolid-induced lactic acidosis in MELAS.  Mitochondrion 11(6):992-3

Yarham JW; Al-Dosary M; Blakely EL; Alston CL; Taylor RW; Elson JL; McFarland R, 2011. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.  Hum Mutat 32(11):1319-25

Say RE; Whittaker RG; Turnbull HE; McFarland R; Taylor RW; Turnbull DM, 2011. Mitochondrial disease in pregnancy: a systematic review.  Obstet Med 4(3):90-4

Alston CL; He L; Morris AA; Hughes I; de Goede C; Turnbull DM; McFarland R; Taylor RW, 2011. Maternally inherited mitochondrial DNA disease in consanguineous families.  Eur J Hum Genet 19(12):1226-9

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, 2011. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.  Eur J Hum Genet 19(7):769-75

Kemp JP; Smith PM; Pyle A; Neeve VC; Tuppen HA; Schara U; Talim B; Topaloglu H; Holinski-Feder E; Abicht A; Czermin B; Lochmüller H; McFarland R; Chinnery PF; Chrzanowska-Lightowlers ZM; Lightowlers RN; Taylor RW; Horvath R, 2011. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.  Brain 134(Pt 1):183-95

Kisler JE; Whittaker RG; McFarland R, 2010. Mitochondrial diseases in childhood: a clinical approach to investigation and management.  Dev Med Child Neurol 52(5):422-33

Alston CL; Bender A; Hargreaves IP; Mundy H; Deshpande C; Klopstock T; McFarland R; Horvath R; Taylor RW, 2010. The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype.  Neuromuscul Disord 20(6):403-6

Tuppen HA; Fehmi J; Czermin B; Goffrini P; Meloni F; Ferrero I; He L; Blakely EL; McFarland R; Horvath R; Turnbull DM; Taylor RW, 2010. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.  Mol Genet Metab 100(4):345-8

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; Baker MR; Jackson MJ; Clarke MP; Dhillon B; Czermin B; Stewart JD; Hudson G; Reynier P; Bonneau D; Marques W Jr; Lenaers G; McFarland R; Taylor RW; Turnbull DM; Votruba M; Zeviani M; Carelli V; Bindoff LA; Horvath R; Amati-Bonneau P; Chinnery PF, 2010. Multi-system neurological disease is common in patients with OPA1 mutations.  Brain 133(Pt 3):771-86

McFarland R; Taylor RW; Turnbull DM, 2010. A neurological perspective on mitochondrial disease.  Lancet Neurol 9(8):829-40

Sohal AP; Dasarathi M; Gholkar A; McFarland R, 2010. Unilateral Horner's syndrome: an unusual childhood presentation.  J Paediatr Child Health 46(11):695, 701

Yarham JW; Elson JL; Blakely EL; McFarland R; Taylor RW, 2010. Mitochondrial tRNA mutations and disease.  Wiley Interdiscip Rev RNA 1(2):304-24

Tuppen HA; Hogan VE; He L; Blakely EL; Worgan L; Al-Dosary M; Saretzki G; Alston CL; Morris AA; Clarke M; Jones S; Devlin AM; Mansour S; Chrzanowska-Lightowlers ZM; Thorburn DR; McFarland R; Taylor RW, 2010. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.  Brain 133(10):2952-63

Al-Dosary M; Whittaker RG; Haughton J; McFarland R; Goodship J; Turnbull DM; Taylor RW, 2009. Neuromuscular disease presentation with three genetic defects involving two genomes.  Neuromuscul Disord 19(12):841-4

Horvath R; Kemp JP; Tuppen HA; Hudson G; Oldfors A; Marie SK; Moslemi AR; Servidei S; Holme E; Shanske S; Kollberg G; Jayakar P; Pyle A; Marks HM; Holinski-Feder E; Scavina M; Walter MC; Coku J; Günther-Scholz A; Smith PM; McFarland R; Chrzanowska-Lightowlers ZM; Lightowlers RN; Hirano M; Lochmüller H; Taylor RW; Chinnery PF; Tulinius M; DiMauro S, 2009. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.  Brain 132(Pt 11):3165-74

Elson JL; Swalwell H; Blakely EL; McFarland R; Taylor RW; Turnbull DM, 2009. Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?  Hum Mutat 30(11):E984-92

Aitken H; Gorman G; McFarland R; Roberts M; Taylor RW; Turnbull DM, 2009. Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.  Neurology 72(18):e86-90

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; Livingston JH; McFarland R; Turnbull DM; Chinnery PF; Taylor RW, 2009. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.  J Med Genet 46(3):209-14

Whittaker RG; Blackwood JK; Alston CL; Blakely EL; Elson JL; McFarland R; Chinnery PF; Turnbull DM; Taylor RW, 2009. Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.  Neurology 72(6):568-9

McFarland R; Turnbull DM, 2009. Batteries not included: diagnosis and management of mitochondrial disease.  J Intern Med 265(2):210-28

Wolny S; McFarland R; Chinnery P; Cheetham T, 2009. Abnormal growth in mitochondrial disease.  Acta Paediatr 98(3):553-4

McFarland R; Hudson G; Taylor RW; Green SH; Hodges S; McKiernan PJ; Chinnery PF; Ramesh V, 2009. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).  BMJ Case Rep 2009.

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, 2008. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.  Brain 131(Pt 2):329-37

Schaefer AM; McFarland R; Blakely EL; He L; Whittaker RG; Taylor RW; Chinnery PF; Turnbull DM, 2008. Prevalence of mitochondrial DNA disease in adults.  Ann Neurol 63(1):35-9

McFarland R; Swalwell H; Blakely EL; He L; Groen EJ; Turnbull DM; Bushby KM; Taylor RW, 2008. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.  Neuromuscul Disord 18(1):63-7

Tuppen HA; Fattori F; Carrozzo R; Zeviani M; DiMauro S; Seneca S; Martindale JE; Olpin SE; Treacy EP; McFarland R; Santorelli FM; Taylor RW, 2008. Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.  J Med Genet 45(1):55-61

Rorbach J; Yusoff AA; Tuppen H; Abg-Kamaludin DP; Chrzanowska-Lightowlers ZM; Taylor RW; Turnbull DM; McFarland R; Lightowlers RN, 2008. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.  Nucleic Acids Res 36(9):3065-74

McFarland R; Hudson G; Taylor RW; Green SH; Hodges S; McKiernan PJ; Chinnery PF; Ramesh V, 2008. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).  Arch Dis Child 93(2):151-3

McFarland R; Chinnery PF; Blakely EL; Schaefer AM; Morris AA; Foster SM; Tuppen HA; Ramesh V; Dorman PJ; Turnbull DM; Taylor RW, 2007. Homoplasmy, heteroplasmy, and mitochondrial dystonia.  Neurology 69(9):911-6

Whittaker RG; Schaefer AM; McFarland R; Taylor RW; Walker M; Turnbull DM, 2007. Prevalence and progression of diabetes in mitochondrial disease.  Diabetologia 50(10):2085-9

Whittaker RG; Schaefer AM; McFarland R; Taylor RW; Walker M; Turnbull DM, 2007. Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?  Diabetes Care 30(9):2238-9

McFarland R; Taylor RW; Turnbull DM, 2007. Mitochondrial disease--its impact, etiology, and pathology.  Curr Top Dev Biol 77:113-55

Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R, 2006. A scale to monitor progression and treatment of mitochondrial disease in children.  Neuromuscul Disord 16(12):814-20

Schaefer AM; Phoenix C; Elson JL; McFarland R; Chinnery PF; Turnbull DM, 2006. Mitochondrial disease in adults: a scale to monitor progression and treatment.  Neurology 66(12):1932-4

Taylor RW; Schaefer AM; Barron MJ; McFarland R; Turnbull DM, 2004. The diagnosis of mitochondrial muscle disease.  Neuromuscul Disord 14(4):237-45

McFarland R; Kirby DM; Fowler KJ; Ohtake A; Ryan MT; Amor DJ; Fletcher JM; Dixon JW; Collins FA; Turnbull DM; Taylor RW; Thorburn DR, 2004. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.  Ann Neurol 55(1):58-64

McFarland R; Taylor RW; Chinnery PF; Howell N; Turnbull DM, 2004. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.  Neuromuscul Disord 14(2):162-6

Blakely EL; Poulton J; Pike M; Wojnarowska F; Turnbull DM; McFarland R; Taylor RW, 2004. Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.  J Neurol Sci 225(1-2):99-103

McFarland R; Schaefer AM; Gardner JL; Lynn S; Hayes CM; Barron MJ; Walker M; Chinnery PF; Taylor RW; Turnbull DM, 2004. Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.  Ann Neurol 55(4):478-84

Taylor RW; Schaefer AM; McDonnell MT; Petty RK; Thomas AM; Blakely EL; Hayes CM; McFarland R; Turnbull DM, 2004. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.  Neurology 62(8):1420-3

McDonnell MT; Schaefer AM; Blakely EL; McFarland R; Chinnery PF; Turnbull DM; Taylor RW, 2004. Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.  Eur J Hum Genet 12(9):778-81

McFarland R; Elson JL; Taylor RW; Howell N; Turnbull DM, 2004. Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.  Trends Genet 20(12):591-6

McFarland R; Taylor RW; Turnbull DM, 2002. The neurology of mitochondrial DNA disease.  Lancet Neurol 1(6):343-51

Taylor RW; Schaefer AM; McFarland R; Maddison P; Turnbull DM, 2002. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.  Neuromuscul Disord 12(7-8):659-664

McFarland R; Clark KM; Morris AA; Taylor RW; Macphail S; Lightowlers RN; Turnbull DM, 2002. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.  Nat Genet 30(2):145-6

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