Newcastle University

I am interested in the pathogenetic mechanisms of mitochondrial disease in children and adults. MRC funding has allowed me to develop a large national cohort of patients with mitochondrial disease which is already helping to answer some fundamental clinical research questions. I am collaborating with research colleagues in USA, Finland, Australia, Germany, Japan, Italy and the Netherlands to develop an international database to facilitate clinical trials. I maintain a keen interest in laboratory research and have projects investigating mt-tRNA biology and the neuropathological mechanisms of Alpers-Huttenlocher Syndrome. I work closely with colleagues in the Mitochondrial Diagnostic Service to translate research findings into benefit for patients and this has resulted in the establishment of both a prenatal diagnostic service and (together with colleagues at the Newcastle Fertility Centre) a Preimplantation Genetic Diagnosis Service for mtDNA disease.  

Projects

• Identifying the molecular basis of human mitochondrial respiratory chain disease
  Project Leader(s): Professor Rob Taylor

• Say RE, Whittaker RG, Turnbull HE, McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease in pregnancy: a systematic review. Obstetric Medicine 2011, 4(3), 90-94.
• Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke X, Lamont PJ, Turnbull DM, McFarland R, Taylor RW, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. European Journal of Human Genetics 2011, 19(7), 769-775.
• McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Turnbull DM, Taylor RW, McFarland RM, Schaefer AM. Defects of the mitochondrial genome. SAGGI - Child Development and Disabilities 2002, 28(1), 75-82.
• McFarland R, Taylor RW, Chinnery PF, Lightowlers RN, Turnball DM. Health, disability and death: A new spectrum of disease for homoplasmic mutations of mitochondrial DNA. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurology 2002, 1(6), 343-351.
• Kemp JP, Smith PM, Pyle A, Neeve VCM, Tuppen HAL, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R. Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011, 134(1), 183-195.
• Yarham J, Elson JL, Blakely EL, Alston CL, Turnbull DM, McFarland R, Taylor RW. Assigning pathogenicity to mitochondrial tRNA gene mutations. In: Journal of Medical Genetics: British Human Genetics Conference. 2010, Warwick, UK: BMJ Group.
• McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurology 2010, 9(8), 829-840.
• Nesbitt V, Whittaker R, Turnbull D, McFarland R, Taylor R. mtDNA disease for the neurologist. Future Neurology 2011, 6(1), 63-80.
• Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW. Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Molecular Genetics and Metabolism 2010, 100(4), 345-348.
• Nesbitt V, Pitceathly RDS, Rahman S, Poulton J, Turnbull DM, Hanna MG, McFarland R. The MRC Centre for Translational Research in Neuromuscular Disease: Mitochondrial Disease Patient Cohort Study UK. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Taylor RW, Schaefer AM, McFarland R, Maddison P, Turnbull DM. A novel mitochondrial DNA tRNAIle (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscular Disorders 2002, 12(7-8), 659-664.
• McFarland R, Clark KM, Morris AAM, Taylor RW, Macphail S, Lightowlers RN, Turnbull DM. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation. Nature Genetics 2002, 30(2), 145-146.
• McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough. Trends in Genetics 2004, 20(12), 591-596.
• McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR. De Novo Mutations in the Mitochondrial ND3 Gene as a Cause of Infantile Mitochondrial Encephalopathy and Complex I Deficiency. Annals of Neurology 2004, 55(1), 58-64.
• McFarland R, Schaefer AM, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial Myopathy: New Insights into the T14709C Mitochondrial tRNA Mutation. Annals of Neurology 2004, 55(4), 478-484.
• McFarland R, Taylor RW, Chinnery PF, Howell N, Turnbull DM. A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis. Neuromuscular Disorders 2004, 14(2), 162-166.
• Kisler JE, Whittaker RG, McFarland R. Mitochondrial diseases in childhood: a clinical approach to investigation and management. Developmental Medicine and Child Neurology 2010, 52(5), 422-433.
• 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, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010, 133(3), 771-786.
• Verity CM, Winstone AM, Stellitano L, Krishnakumar D, Will R, McFarland R. The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study. Developmental Medicine and Child Neurology 2010, 52(5), 434-440.
• McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. Journal of Internal Medicine 2009, 265(2), 210-228.
• Aitken H, Gorman G, McFarland R, Roberts M, Taylor RW, Turnbull DM. Clinical Reasoning: Blurred vision and dancing feet Restless legs syndrome presenting in mitochondrial disease. Neurology 2009, 72(18), E86-E90.
• Horvath R, Kemp JP, Tuppen HAL, Hudson G, Oldfors A, Marie SKN, 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, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Hirano M, Lochmuller H, Taylor RW, Chinnery PF, Tulinius M, DiMauro S. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain 2009, 132(11), 3165-3174.
• Alston CL, Bender A, Hargreaves IP, Mundy H, Deshpande C, Klopstock T, McFarland R, Horvath R, Taylor RW. The pathogenic m.3243A > T mitochondrial DNA mutation is associated with a variable neurological phenotype. Neuromuscular Disorders 2010, 20(6), 403-406.
• Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Further pitfalls in the diagnosis of mtDNA mutations: Homoplasmic mt-tRNA mutations. Journal of Medical Genetics 2008, 45(1), 55-61.
• Hudson G, Amati-Bonneau P, Blakely E, Stewart J, He L, Schaefer A, Griffiths P, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull D, Chinnery P, Taylor R. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain 2008, 131(2), 329-337.
• McFarland R, Swalwell H, Blakely EL, He L, Groen EJ, Turnbull DM, Bushby KMD, Taylor RW. The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy. Neuromuscular Disorders 2008, 18(1), 63-67.
• Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?. Diabetes Care 2007, 30(9), 2238-2239.
• Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007, 50(10), 2085-2089.
• McFarland R, Taylor RW, Turnbull DM. Mitochondrial Disease-Its Impact, Etiology, and Pathology. Current Topics in Developmental Biology 2007, 77, 113-155.
• Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscular Disorders 2006, 16(12), 814-820.
• Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H, Lochmuller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006, 129(7), 1674-1684.
• Taylor RW, Swalwell H, Kirby DM, Boneh A, McFarland R, Salemi R, Sugiana C, Worgan L, Mitchell AL, Thorburn DR. [abstract] The molecular genetic basis of respiratory chain complex I deficiency: Clinical presentations and mtDNA mutations. Journal of Inherited Metabolic Disease 2006, 29(s1), 16.
• Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: A scale to monitor progression and treatment. Neurology 2006, 66(12), 1932-1934.
• McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease - Its impact, etiology, and pathology. In: Justin St. John, Gerald Schatten, ed. The Mitochondrion in the Germline and Early Development. London: Elsevier, 2007, pp.113-155.
• McFarland R, Chinnery PF, Blakely EL, Schaefer AM, Morris AAM, Foster SM, Tuppen HAL, Ramesh V, Dorman PJ, Turnbull DM, Taylor RW. Homoplasmy, heteroplasmy, and mitochondrial dystonia. Neurology 2007, 69(9), 911-916.
• Taylor RW, Schaefer AM, McDonnell MT, Petty RKH, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene. Neurology 2004, 62(8), 1420-1423.
• Blakely EL, Swalwell H, Petty RKH, McFarland R, Turnbull DM, Taylor RW. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation. Journal of Neurology 2007, 254(9), 1283-1285.
• Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscular Disorders 2004, 14(4), 237-245.
• McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N, Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Guan M-X, Liu L-L, Wong L-JC. Proving pathogenicity: When evolution is not enough. American Journal of Medical Genetics 2004, 131(1), 107-110.
• McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Nonivasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells. European Journal of Human Genetics 2004, 12(9), 778-781.
• Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW. Mutations of the mitochondrial ND1 gene as a cause of MELAS. Journal of Medical Genetics 2004, 41(10), 784-789.
• McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V. Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). Archives of Disease in Childhood 2008, 93(2), 151-153.
• Schaefer AM, Whittaker R, McFarland R, Chinnery PF, Taylor RW, Turnbull DM. Reply. Annals of Neurology 2008, 64(4), 471-472.
• Schaefer AM, McFarland R, Blakely EL, He L, Whittaker RG, Taylor RW, Chinnery PF, Turnbull DM. Prevalence of mitochondrial DNA disease in adults. Annals of Neurology 2008, 63(1), 35-39.
• Rorbach J, Yusoff A, Tuppen H, Abg-Kamaludin D, Chrzanowska-Lightowlers Z, Taylor R, Turnbull D, Mcfarland R, Lightowlers R. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Research 2008, 36(9), 3065-3074.
• Whittaker RG, Blackwood JK, Alston CL, Blakely EL, Elson JL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. Urine Heteroplasmy is the Best Predictor of Clinical Outcome in the m.3243A > G mtDNA Mutation. Neurology 2009, 72(6), 568-569.
• Moriarty KT, McFarland R, Whittaker R, Burch J, Turnbull HE, Taylor RW, Turnbull DM. Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A > G melas mutation. Journal of Obstetrics and Gynaecology 2008, 28(3), 349.
• Stewart JD, Tennant S, Powell H, Pyle A, Blakeley EL, He L, Hudson G, Roberts M, du Plessis D, Gow D, Mewasingh LD, Hanna MG, Omer S, Morris AAM, Roxburgh R, Livingston J, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Journal of Medical Genetics 2008, 46(3), 209-214.
• 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 ZMA, Thorburn DR, McFarland R, Taylor RW. The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010, 133(10), 2952-2963.
• Wolny S, McFarland R, Chinnery P, Cheetham T. Abnormal growth in mitochondrial disease. Acta Paediatrica 2009, 98(3), 553-554.
• Sohal APS, Dasarathi M, Gholkar A, McFarland R. Unilateral Horner's syndrome: An unusual childhood presentation. Journal of Paediatrics and Child Health 2010, 46(11), 695.
• Al-Dosary M, Whittaker R, Hood J, McFarland R, Goodship JA, Turnbull DM, Taylor RW. Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
• Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?. Human Mutation 2009, 30(11), 984-992.
• Al-Dosary M, Whittaker RG, Haughton J, McFarland R, Goodship J, Turnbull DM, Taylor RW. Neuromuscular disease presentation with three genetic defects involving two genomes. Neuromuscular Disorders 2009, 19(12), 841-844.
• Swallwell H, McFarland R, Elson J, Blakely E, He L, Groen E, Bushby K, Turnbull D, Taylor R. A maternally inherited mitochondrial tRNA mutation masquerading as limb girdle muscular dystrophy: Insights into the transmission of mtDNA mutations. In: Neuromuscular Disorders. 2007, Giardini Naxos – Taormina, Italy: Elsevier Ltd.
• 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, (epub ahead of print).
• 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.
• Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MAM, 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. American Journal of Human Genetics 2013, 93(3), 471-481.
• Bogle H, Lax NZ, Jaros E, McFarland R, Taylor RW, Turnbull DM. Neuropathological changes in Alpers' syndrome. In: 114th Meeting of the British Neuropathological Society: Symposium on Advances in Motor Neuron Diseases. 2013, London: Wiley-Blackwell Publishing Ltd.
• Yarham JW, Blakely EL, Alston CL, Roberts ME, Ealing J, Pal P, Turnbull DM, McFarland R, Taylor RW. The m.3291T > C mt-tRNA^Leu(UUR) mutation is definitely pathogenic and causes multisystem mitochondrial disease. Journal of the Neurological Sciences 2013, 325(1-2), 165-169.
• Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management. Journal of Neurology, Neurosurgery and Psychiatry 2013, 84(8), 936-938.
• Blakely EL, Butterworth A, Hadden RDM, Bodi I, He LP, McFarland R, Taylor RW. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscular Disorders 2012, 22(7), 587-591.
• Yarham JW, McFarland R, Taylor RW, Elson JL. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. Mitochondrion 2012, 12(5), 533-538.
• Yarham JW, Elson JL, Taylor RW, McFarland R. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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.
• Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM. Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study. Journal of Neuropathology and Experimental Neurology 2012, 71(2), 148-161.
• McFarland R. Cerebral folate deficiency-mishaps and misdirection. Brain 2012, 135(7), 2002-2003.
• 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 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. International Journal of Cardiology 2012, 155(2), 305–306.
• Blakely EL, Butterworth A, Hadden RDM, Bodi I, He L, McFarland R, Taylor RW. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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. Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. European Journal of Human Genetics 2012, 20, 897-904.
• Alston CL, van der Westhuizen FH, He L, Wassmer E, Davison JE, Falkous G, McFarland R, Taylor RW. Novel SDHA and SDHB mutations as a cause of isolated mitochondria! complex II deficiency. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Read JL, Whittaker RG, Miller N, Clark S, Taylor R, McFarland R, Turnbull D. Prevalence and severity of speech and swallowing difficulties in mitochondrial disease. International Journal Language Communication Disorders 2012, 47(1), 106-111.
• Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He LP, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics 2012, 49(9), 569-577.
• Wedatilake Y, Brown RM, McFarland R, Chakrapani A, Morris AA, Champion MP, Jardine PE, Dobbie A, Hanrahan D, Simmons L, Collins JE, Brown GK, Rahman S. SURF1 deficiency: Natural history study of a UK cohort. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 2012, Birmingham, UK: Springer.
• Nesbitt V, Morrison PJ, Crushell E, Donnelly DE, Alston CL, He LP, Mcfarland R, Taylor RW. The clinical spectrum of the m.10191T > C mutation in complex I-deficient Leigh syndrome. Developmental Medicine and Child Neurology 2012, 54(6), 500-506.
• Nesbitt V, Pitceathly R, Cockell S, Poulton J, Rahman S, Hanna M, Turnbull D, McFarland R. The medical research council neuromuscular centre for translational research mitochondrial disease patient cohort study UK: from conceptualisation to utilisation. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne: Elsevier Ltd.
• Elson JL, Sweeney MG, Procaccio P, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RDS, Thorburn DR, Lott MT, Wallace DC, Taylor RW, McFarland R. Towards a mtDNA locus-specific mutation database using the LOVD platform. Human Mutation 2012, 33(9), 1352-1358.
• Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations. Human Mutation 2011, 32(11), 1319-1325.
• Nesbitt V, Bartlett K, Taylor RW, McFarland R. Congenital lactic acidosis and mitochondrial disease - when to suspect and how to manage. Journal of Neonatal and Perinatal Medicine 2011, 4(3), 179-187.
• Alston CL, He LP, Morris AA, Hughes I, de Goede C, Turnbull DM, McFarland R, Taylor RW. Maternally inherited mitochondrial DNA disease in consanguineous families. European Journal of Human Genetics 2011, 19(12), 1226-1229.
• Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Ounap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grunewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. Journal of Inherited Metabolic Disease 2011, 34(4), 923-927.
• Cope TE, McFarland R, Schaefer A. Rapid-onset, linezolid-induced lactic acidosis in MELAS. Mitochondrion 2011, 11(6), 992-993.
• Jameson E, McFarland R, Taylor R, Brown G, Morris AA. The relationship between the pyruvate dehydrogenase complex and the mitochondrial respiratory chain. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 2011, Geneva, Switzerland: Springer Netherlands.
• Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdisciplinary Reviews: RNA 2010, 1(2), 304-324.