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.

 

Publications

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

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

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

Koene S; Hendriks JC; Dirks I; de Boer L; de Vries MC; Janssen MC; Smuts I; Fung CW; Wong VC; de Coo IR; Vill K; Stendel C; Klopstock T; Falk MJ; McCormick EM; McFarland R; de Groot IJ; Smeitink JA, 2016. International Paediatric Mitochondrial Disease Scale.  J Inherit Metab Dis.

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.

Metodiev MD; Thompson K; Alston CL; Morris AA; 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

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.

Gorman GS; Grady JP; Ng Y; Schaefer AM; McNally RJ; Chinnery PF; Yu-Wai-Man P; Herbert M; Taylor RW; McFarland R; Turnbull DM, 2015. Mitochondrial donation--how many women could benefit?  N Engl J Med 372(9):885-7

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

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

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

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; 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

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

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

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

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

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, 2015. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.  Eur Heart J.

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

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

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

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

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

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; 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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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; 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.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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; 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

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; 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

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; 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

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

Publication list retrieved from NCBI using ImpactPubs

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