Staff Profile

Prof Robert (Bobby) McFarland trained in paediatrics, specialising in paediatric neurology, in London and Newcastle upon Tyne. He began his research career studying the molecular consequences and clinical problems associated with mutations of mitochondrial DNA. His research now embraces gene discovery, determinants of pathogenicity in mitochondrial disease, longitudinal modelling to assess mitochondrial disease progression and clinical research projects including the development of clinical assessment tools, outcome measures and clinical trials. As Director of the NHS Highly Specialised Service for Rare Mitochondrial Disorders Prof McFarland leads a team of clinicians, nurses and allied health professionals dedicated to the diagnosis and management of mitochondrial disease. The close association of his research and clinical work pays dividends for both in facilitating recruitment to the extremely successful national mitochondrial disease patient cohort study (n>2200) and allows rapid translation of research breakthroughs into clinical practice.

Prof McFarland has made significant contributions to mitochondrial research with over 220 peer-reviewed publications, many in high impact journals such as Lancet and NEJM. He has been at the forefront of the introduction of mitochondrial donation, a pioneering technique to prevent transmission of mitochondrial disease, to the UK and leads the neurodevelopmental outcome study to assess the safety and efficacy of this technique. Prof McFarland has championed public and policy engagement to improve public understanding of decision-making in life-limiting diseases affecting children, including the introduction of mitochondrial donation as a reproductive option

h-index 73; i10-index 191; Citations 18968

Action Medical Research Professor of Neuromuscular Disease, Newcastle University (Mar 2020 - )

Professor of Paediatric Mitochondrial Medicine, Newcastle University (Aug 2017-)

Director of the HSS for Rare Mitochondrial Disorders (2020 - ) anHonorary Consultant Paediatric Neurologist (2006-)

I am a paediatric clinical academic focusing on translational and clinical research. I am CI on the MItoCohort UK study, the largest mitochondrial disease patient cohort in the world (n=2100) and central to the successful Wellcome Centre renewal (2016) and extension (2020). MitoCohort UK has been utilised in 67 studies (26 clinical) and, working with the HSS Mitochondrial Service, has facilitated establishment of the Newcastle MitoBiobank (2019).

I am CI on the Wellcome ‘Mitochondrial Donation’ trial (2018) that enabled this pioneering technique to be offered in Newcastle and secured several million pounds of NHS support costs. The UK remains alone in regulating MD and the HFEA has now issued 23 licences. I also lead an intervention study (TRANSFORM), a natural history study (LSRP) and an expanded access programme for nucleoside therapy.

2025 – 2028 Leigh Syndrome International Consortium: Leigh Syndrome Roadmap Project (£84K, UK PI)

2025 – 2026 Lily Foundation: VALIANT study (£23K CI)

2023 – 2026 GOSH-Sparks: Epilepsy in Alpers’ Syndrome (£254K, CI)

2022 – 2027 Medical Research Council: National Mouse Genetics Network - MitoCluster (£2.93M Co-PI)

2022 – 2024 Wellcome Centre Extension (£2.2M, Co-PI)

2020 – 2022 Lily Foundation: TRANScranial direct current Stimulation for FOcal Refractory epilepsy in Mitochondrial disease (£86K, CI)

2020 – 2021 Leigh Syndrome International Consortium: “Leigh syndrome: Investigating Outcome measures & Natural history (LION) Study” (£50K, CI)

2019 – 2022 Lily Foundation PhD Studentship (£86K, Co-PI)

2019 – 2024 Medical Research Council: "International Centre for Genomic Medicine in Neuromuscular Diseases" (£5M Co-PI)

2018 – 2027 Wellcome: Mitochondrial Donation – Neurodevelopmental Outcome at 18 months. (CI £196K)

I am a clinical and educational supervisor in Paediatrics (ST3) and Paediatric Neurology (ST7) and teach paediatric trainees and medical students.

Between 2009 - 2018, I was Northern Deanery advisor for the British Paediatric Neurology Association. I supervise an AFP fellow (2020) and I was the Newcastle education and training lead for the MRC International Centre for Genomics and Neuromuscular Disease (2019 - 2024).

Since 2016 I have supervised 7 PhD students (3 completed and 4 current) including 1 clinical fellow. I have also supervised an international Newton Fellow (2019), 3 MRes medical students and have supported our Public Engagement Officer in attaining a Parliamentary Fellowship (2019).

I have supervised 15 PhD students (inc. 4 clinical fellows): 14 completed, 1 current; 9 MRes students and one visiting Newton Fellow

I teach on two MRes courses and provide bedside teaching in paediatrics to 3rd and 5th year medical students. I have published in educational texts such as Nature Reviews Primers (2016), Diagnosis and Management of Mitochondrial Disorders (2019) and Oxford Handbook of Paediatric Neurology (2024).

I have been invited to lecture at many national and international conferences (2016-2019: Tokyo, Rome, Cologne, Kuwait, Sydney, Melbourne, Beijing) and have been at the forefront of Newcastle’s international lead on the development of mitochondrial disease care guidelines [perioperative and anaesthetics (2018), reproductive options (2020), stroke-like episodes (2019), mitotoxicity of drugs (2020) and cardiac (2021)]

I have advised on and edited a storyline for Coronation Street (2020) to improve public understanding of decision-making in life-limiting diseases affecting children and undertaken national (ITN News, 2016), local and social media interviews on Mitochondrial Donation. Since 2014, I have attended and contributed to the educational content, design and media output of ‘Family Weekends’ for the Lily Foundation.

• Articles

  • Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann M-L, Harris M, Martin EM, McGrath P, Atthow C, Elbaum Y, MacArthur DG, Balasubramaniam S, Siira SJ, Simons C, Sallevelt SCEH, Ghaoui R, Davis RL, Murray S, Coman D, Stojanovski D, Filipovska A, Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA. Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Genome Medicine 2025, 17(1), 58.
  • Pizzamiglio C, Stefanetti RJ, McFarland R, Thomas N, Ransley G, Hugerth M, Gronberg A, Serrano SS, Elmer E, Hanna MG, Hansson MJ, Gorman GS, Pitceathly RDS. Optimizing rare disorder trials: A phase 1a/1b randomized study of KL1333 in adults with mitochondrial disease. Brain 2025, 148(1), 39-46.
  • Fassad MR, Valenzuela S, Olahova M, Collier JJ, Knowles CVY, Mavraki E, Elbracht M, Guzel N, Herberhold T, Kurth I, Maier A, Mattern L, Saunders C, McCullagh H, Ounap K, Wortmann SB, Reis A, Zhang L, Gustafsson CM, McFarland R, Taylor RW. Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease. Clinical Genetics 2025, epub ahead of print.
  • Smith LA, Olkhova EA, Lax NZ, Ng YS, Taylor RW, Gorman GS, Erskine D, McFarland R. Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease. Acta Neuropathologica 2025, 149(1), 53.
  • Hassaan H, Pyle A, Almenabawy N, Robertson F, Elkhateeb N, Girgis M, Mahmoud I, Amer F, Samaha M, Shaheen Y, ElNaggar W, Abdoh D, Mehaney D, Meguid I, Taylor R, McFarland R, Selim L. Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion. American Journal of Medical Genetics, Part A 2025, 197(2), e63881.
  • Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, Cheuk-Wing F, Wong T-S, Belaramani K, Chan C-K, Chan W-K, Chan W-LL, Cheung H-W, Cheung K-Y, Chang S-K, Cheung S-N, Cheung T-F, Cheung Y-F, Chong S-CJ, Chow C-KJ, Chung H-YB, Fan S-YF, Fok W-MJ, Fong K-W, Fung T-HS, Hui K-F, Hui T-H, Hui J, Ko CH, Kwan M-C, Kwok M-KA, Kwok S-SJ, Lai M-S, Lam Y-O, Lam C-W, Lau M-C, Law C-YE, Law H-F, Lee W-C, Hencher Lee H-C, Leung K-H, Leung K-Y, Li S-H, Ling T-KJ, Liu K-TT, Lo F-M, Lui C, Luk C-O, Luk H-M, Ma C-K, Ma K, Ma K-H, Mew Y-N, Mo A, Hg S-F, Poon W-KG, Sheng B, Szeto C-LC, Tai S-M, Tang J-L, Tse C-TA, Tsung L-YL, Wong H-MJ, Wong W-YW, Wong K-K, Wong S-NS, Wong C-NV, Wong W-SS, Wong C-KF, Wu S-P, Wu H-FJ, Yau M-M, Yau K-CE, Yeung W-L, Yeung H-MJ, Yip K-KE, Wu H-J, Young P-HT, Yuan G, Yuen Y-PL, Yuen C-L. Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. Neurology 2025, 104(4), e209779.
  • Schoonen M, Fassad M, Patel K, Bisschoff M, Vorster A, Makwikwi T, Human R, Lubbe E, Nonyane M, Vorster BC, Vandrovcova J, Hanna MG, Taylor RW, McFarland R, Wilson LA, van der Westhuizen FH, Smuts I. Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort. European Journal of Human Genetics 2025, 421–431.
  • Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, Karimiani EG, Alvi JR, Niyazov D, Alahmad A, Babaei M, Tajsharghi H, Albash B, Alaqeel A, Charif M, Hashemi N, Heidari M, Kalantar SM, Lenaers G, Mehrjardi MYV, Srinivasan VM, Gowda VK, Mirabutalebi SH, Carere DA, Movahedinia M, Murphy D, McFarland R, Abdel-Hamid MS, Elhossini RM, Alavi S, Napier M, Belanger-Quintana A, Prasad AN, Jakobczyk J, Roubertie A, Rupar T, Sultan T, Toosi MB, Sazanov L, Severino M, Houlden H, Taylor RW, Maroofian R. Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment. Brain Communications 2025, 7(1).
  • Cadwgan J, Goodwin J, Babcock B, Brick M, Chin R, Easton A, Green B, Hannan S, Inward RPD, Kinsella S, King C, Kurian MA, Levine P, Mallick A, Parr J, Partridge CA, Amin S, Lumsden D, Cross JH, Lim MJ, Childs A-M, Ganesan V, Hart A, Kneen R, McFarland R, Wassmer E, Whitehouse WP, Williams R, Arichi T, Burford V, Crombie S, Damodaran L, Eunson P, Gringras P, Gordon A, Harrop E, Hart A, Martin C, Rush C, Tuffrey C. UK research priority setting for childhood neurological conditions. Developmental Medicine and Child Neurology 2024, 66(12), 1590-1599.
  • Bangel KA, Lim AZ, Blain A, Ng YS, Winder A, Bulmer J, Gorman G, Baker M, McFarland R. TRANscranial direct current stimulation for FOcal Refractory epilepsy in mitochondrial disease (TRANSFORM): delayed-start, randomised, double-blinded, placebo-controlled study. BMC Neurology 2024, 24, 407.
  • Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Vegvari A, Kall L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease. JCI Insight 2024, 9(20), e178645.
  • Frezatti RSS, Tomaselli PJ, Record CJ, Wilson LA, Alves GM, Dominik N, Efthymiou S, Patel K, Vandrovcova J, Mannikko R, Pitceathly RDS, da Rosa Sobreira CF, McFarland R, Taylor RW, Houlden H, Hanna MG, Reilly MM, Junior WM. Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country. Brain Communications 2024, 6(6).
  • Brunet T, Zott B, Lieftuchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Huning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljevic M, Barisic N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Kramer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. Genetics in Medicine 2024, 26(2), 101013.
  • Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J, Wanders RJA, van der Westhuizen FH. Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study. Orphanet Journal of Rare Diseases 2024, 19(1), 15.
  • Erdinc D, Rodriguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G, Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. EMBO Molecular Medicine 2023, 15(5), e16775.
  • Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Koken OY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Topf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Cavdarli B, Semerci Gunduz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yis U, Topaloglu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Neuromuscular disease genetics in under-represented populations: increasing data diversity. Brain 2023, 146(12), 5098-5109.
  • Smith LA, Chen C, Lax NZ, Taylor RW, Erskine D, McFarland R. Astrocytic pathology in Alpers’ syndrome. Acta Neuropathologica Communications 2023, 11, 86.
  • Hatton C, Ghanem SS, Koss DJ, Abdi IY, Gibbons E, Guerreiro R, Bras J, International DLB Genetics Consortium, Walker L, Gelpi E, Heywood W, Outeiro TF, Attems J, McFarland R, Forsyth R, El-Agnaf OM, Erskine D. Prion-like α-synuclein pathology in the brain of infants with Krabbe disease. Brain 2022, 145(4), 1257-1263.
  • Houghton D, Ng YS, Jackson MA, Stefanetti R, Hynd P, Aogáin MM, Stewart CJ, Lamb CA, Bright A, Feeney C, Newman J, Turnbull DM, McFarland R, Blain AP, Gorman GS. Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease. Gastro Hep Advances 2022, 1(4), 666-677.
  • Nolden KA, Egner JM, Collier JJ, Russell OM, Alston CL, Harwig MC, Widlansky ME, Sasorith S, Barbosa IA, Douglas AG, Baptista J, Walker M, Donnelly DE, Morris AA, Tan HJ, Kurian MA, Gorman K, Mordekar S, Deshpande C, Samanta R, McFarland R, Hill RB, Taylor RW, Olahova M. Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance 2022, 5(12), e202101284.
  • Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. Annals of Neurology 2022, 91(1), 117-130.
  • Wong W-K, Balasubramaniam S, Wong RSH, Graf N, Thorburn DR, McFarland R, Troedson C. Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant. JIMD Reports 2022, 63(6), 546-554.
  • Jiang H, Alahmad A, Fu S, Fu X, Liu Z, Han X, Li L, Song T, Xu M, Liu S, Wang J, Albash B, Alaqeel A, Catalina V, Prokisch H, Taylor RW, McFarland R, Fang F. Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. Journal of Inherited Metabolic Disease 2022, 45(2), 264-277.
  • Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Forecasting stroke-like episodes and outcomes in mitochondrial disease. Brain 2022, 145(2), 542-554.
  • Smith LA, Erskine D, Blain A, Taylor RW, McFarland R, Lax NZ. Delineating selective vulnerability of inhibitory interneurons Alpers' syndrome. Neuropathology and Applied Neurobiology 2022, 48(6), e12833.
  • Pizzamiglio C, Machado PM, Thomas RH, Gorman GS, McFarland R, Hanna MG, Pitceathly RDS. COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study. Neurology 2022, 98(14), 576-582.
  • Thompson K, Bianchi L, Rastelli F, Piron-Prunier F, Ayciriex S, Besmond C, Hubert L, Barth M, Barbosa IA, Deshpande C, Chitre M, Mehta SG, Wever EJM, Marcorelles P, Donkervoort S, Saade D, Bonnemann CG, Chao KR, Cai C, Iannaccone ST, Dean AF, McFarland R, Vaz FM, Delahodde A, Taylor RW, Rotig A. Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease. Human Genetics and Genomics Advances 2022, 3(2), 100097.
  • Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Gronborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez D-P, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Ostergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. American Journal of Human Genetics 2022, 109(9), 1692-1712.
  • Abouhajar A, Alcock L, Bigirumurame T, Bradley P, Brown L, Campbell I, Del Din S, Faitg J, Falkous G, Gorman GS, Lakey R, McFarland R, Newman J, Rochester L, Ryan V, Smith H, Steel A, Stefanetti RJ, Su H, Taylor RW, Thomas NJP, Tuppen H, Vincent AE, Warren C, Watson G. Acipimox in Mitochondrial Myopathy (AIMM): study protocol for a randomised, double-blinded, placebo-controlled, adaptive design trial of the efficacy of acipimox in adult patients with mitochondrial myopathy. Trials 2022, 23(1), 789.
  • Fradejas-Villar N, Bohleber S, Zhao W, Reuter U, Kotter A, Helm M, Knoll R, McFarland R, Taylor RW, Mo Y, Miyauchi K, Sakaguchi Y, Suzuki T, Schweizer U. The Effect of tRNA^[Ser]Sec Isopentenylation on Selenoprotein Expression. International Journal of Molecular Sciences 2021, 22(21), 11454.
  • Lim AZ, Jones DM, Bates MGD, Schaefer AM, O'Sullivan J, Feeney C, Farrugia ME, Bourke JP, Turnbull DM, Gorman GS, McFarland R, Ng YS. Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects. Open Heart 2021, 8(1), e001510.
  • Braz LP, Ng YS, Gorman GS, Schafer AM, McFarland R, Taylor RW, Turnbull DM, Whittaker RG. Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study. Neurology Clinical Practice 2021, 11(2), 97-104.
  • Collier JJ, Guissart C, Olahova M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schols L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Developmental consequences of defective Atg7-mediated autophagy in humans. New England Journal of Medicine 2021, 384(25), 2406-2417.
  • Tinker R, Lim A, Stefanetti RJ, McFarland R. Current and emerging clinical treatment in mitochondrial disease. Molecular Diagnosis & Therapy 2021, 25, 181-206.
  • Pantic B, Ives D, Mennuni M, Perez-Rodriguez D, Fernandez-Pelayo U, Lopez de Arbina A, Munoz-Oreja M, Villar-Fernandez M, Dang T-MJ, Vergani L, Johnston IG, Pitceathly RDS, McFarland R, Hanna MG, Taylor RW, Holt IJ, Spinazzola A. 2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA. Nature Communications 2021, 12(1), 6997.
  • Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmstrom K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Graf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Nemeth AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M. 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report. New England Journal of Medicine 2021, 385(20), 1868-1880.
  • Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. Genome Biology 2020, 21(1), 248.
  • Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Unalp A, Yilmaz U, Ozyilmaz B, Ozdemir TR, Atik T, Ucar SK, McFarland R, Taylor RW, Brown GK, Coker M, Ozkinay F. SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey. Molecular Genetics and Metabolism Reports 2020, 25, 100657.
  • Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. American Journal of Human Genetics 2020, 106(1), 92-101.
  • Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A. Lower urinary tract dysfunction in adult patients with mitochondrial disease. Neurourology and Urodynamics 2020, 39(8), 2253-2263.
  • Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports 2020, 54(1), 45-53.
  • Balaraju S, Topf A, McMacken G, Kumar VP, Pechmann A, Roper H, Vengalil S, Polavarapu K, Nashi S, Mahajan NP, Barbosa IA, Deshpande C, Taylor RW, Cossins J, Beeson D, Laurie S, Kirschner J, Horvath R, McFarland R, Atchayaram N, Lochmuller H. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. European Journal of Human Genetics 2020, 28, 373-377.
  • Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Molecular Medicine 2020, 12(11), e12619.
  • Lim AZ, McMacken G, Rastelli F, Olahova M, Baty K, Hopton S, Falkous G, Topf A, Lochmuller H, Marini-Bettolo C, McFarland R, Taylor RW. A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features. Neuromuscular Disorders 2020, 30(8), 661-668.
  • Verity C, Winstone AM, Will R, Powell A, Baxter P, De Sousa C, Gissen P, Kurian M, Livingston J, McFarland R, Pal S, Pike M, Robinson R, Wassmer E, Zuberi S. Surveillance for variant CJD: Should more children with neurodegenerative diseases have autopsies?. Archives of Disease in Childhood 2019, 104(4), 360-365.
  • Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study. Annals of Neurology 2019, 86(2), 310-315.
  • Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals of Clinical and Translational Neurology 2019, 6(3), 515-524.
  • Sommerville EW, Zhou X-L, Olahova M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang E-D, Thiffault I, Tyynismaa H, Taylor RW. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. Human Molecular Genetics 2019, 28(2), 258-268.
  • Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: A clinical and neuropathological study. Brain Pathology 2019, 29(1), 97-113.
  • Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, Mccormack S, Mccormick EM, Mcfarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Diagnosis of 'possible' mitochondrial disease: an existential crisis. Journal of Medical Genetics 2019, 56(3), 123-130.
  • Persson O, Muthukumar Y, Basu S, Jenninger L, Uhler JP, Berglund A-K, McFarland R, Taylor RW, Gustafsson CM, Larsson E, Falkenberg M. Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions. Nature Communications 2019, 10(1), 759.
  • Moore HL, Kelly T, Bright A, Field RH, Schaefer AM, Blain AP, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Cognitive deficits in adult m.3243A>G- and m.8344A>G-related mitochondrial disease: Importance of correcting for baseline intellectual ability. Annals of Clinical and Translational Neurology 2019, 6(5), 826-836.
  • Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW. A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes. Mitochondrion 2019, 47, 18-23.
  • Feeney CL, Lim AZ, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R. A case‐comparison study of pregnant women with mitochondrial disease – what to expect?. BJOG: An International Journal of Obstetrics and Gynaecology 2019, 126(11), 1380-1389.
  • O'Byrne JJ, Tarailo-Graovac M, Ghania A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Baric 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. The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular Genetics and Metabolism 2018, 123(1), 28-42.
  • Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR. The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. Epilepsia Open 2018, 3(1), 103-108.
  • Craven L, Murphy J, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Scientific and Ethical Issues in Mitochondrial Donation. New Bioethics 2018, 24(1), 57-73.
  • Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Dominguez-Gonzalez C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Camara Y, Madruga-Garrido M, Dominguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, Dimauro S, Hirano M. Retrospective natural history of thymidine kinase 2 deficiency. Journal of Medical Genetics 2018, 55(8), 515-521.
  • Pickett S, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Annals of Clinical and Translational Neurology 2018, 5(3), 333-345.
  • Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Annals of Neurology 2018, 83(1), 115-130.
  • Koene S, van Bon L, Bertini E, Jimenez-Moreno C, van der Giessen L, deGroot I, McFarland R, Parikh S, Rahman S, Wood M, Zeman J, Janssen A, Smeitink J. Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshop. Journal of Inherited Metabolic Disease 2018, 41(6), 1267-1273.
  • Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P. Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. Human molecular genetics 2018, 27(23), 4135-4144.
  • Grady JP, Pickett SJ, Ng YS, Alston CI, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018, 10(6), e8262.
  • Alaimo JT, Besse A, Alston CL, Pang K, Appadurai V, Samanta M, Smpokou P, Mcfarland R, Taylor RW, Bonnen PE. Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion. Human Mutation 2018, 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. Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease. Human Mutation 2018, 39(4), 563–578.
  • 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, Bjornstad A, Henneke L, Gartner 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. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. American Journal of Human Genetics 2018, 103(4), 592-601.
  • Olahova 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, Fresard L, Waggott D, Zink EM, Kim Y-M, Heyman HM, Stratton KG, Webb-Robertson B-JM, Undiagnosed Diseases Network, 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. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. American Journal of Human Genetics 2018, 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 ZMA, Lightowlers RN, Taylor RW. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Molecular Medicine 2018, 10(9), e9060.
  • Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018, 30, 86-93.
  • Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Olahova M, McFarland R, Turnbull DM, Rocha MC, Taylor RW. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Scientific Reports 2017, 7(1), 15676.
  • Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodriguez-Pombo P, Tabarki B, Pérez-Dueñas B, Distelmaier F, Hahn A, Morava E, Banka S, Debs R, Fraser JL, Isohanni P, Lahdesmaki T, Livingston J, Nadjar Y, Schuler E, Uusimaa J, Vanderver A, Friedman JR, Zimbric MR, McFarland R, Santra S, Wassmer E, Marti-Sanchez L, Darling A. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors. Annals of Neurology 2017, 82(3), 317-330.
  • Hikmat O, Charalampos T, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. The presence of anaemia negatively influences survival in patients with POLG disease. Journal of Inherited Metabolic Disease 2017, 40(6), 861-866.
  • 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 ZMA, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. Journal of Inherited Metabolic Disease 2017, 40(1), 121-130.
  • 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. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics 2017, 18(4), 227-235.
  • Mancuso M, McFarland R, Klopstock T, Hirano M, Artuch R, Bertini E, Bindoff L, Carelli V, Gorman G, Hirano M, Horvath R, Kaufmann P, Klopstock T, Koga Y, Koene S, Lamperti C, McFarland R, Mancuso M, Montoya J, Javier Perez-Minguez Caneda F, Procaccio V, Prokisch H, Rahman S, Santantonio P, Schulke M, Servidei S, Shungu DC, Siciliano G, Smeitink J, Taivassalo T, Thompson JLP, Turnbull D, Van der Veer E, Yeske PE, Zeviani M. International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy. Neuromuscular Disorders 2017, 27(12), 1126-1137.
  • Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. Journal of Inherited Metabolic Disease 2017, 1-1.
  • Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM. Decreased male reproductive success in association with mitochondrial dysfunction. European Journal of Human Genetics 2017, 25(10), 1162-1164.
  • Sallevelt SCEH, de Die-Smulders CEM, Hendrickx ATM, Hellebrekers DMEI, de Coo IFM, Alston CL, Knowles C, Taylor RW, McFarland R, Smeets HJM. De novo mtDNA point mutations are common and have a low recurrence risk. Journal of Medical Genetics 2017, 54(2), 114-124.
  • Sommerville EW, Alston CL, Pyle A, He L, Falkous G, Naismith K, Chinnery PF, McFarland R, Taylor RW. De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities. Neurology Genetics 2017, 3(5), e187.
  • Karaa A, Rahman S, Lombes 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, Abdenur JE, Anderson V, Balcells C, Bamberger M, Barboni P, Bindoff L, Camp K, Carelli V, Chinnery P, Collins A, Copeland WC, Fiorino K, Gai X, Goetz K, Goodpaster B, Gropman AL, Gwinn KA, Haller R, Heuckeroth RO, Hirano M, Holder GE, Kaufmann P, Keller K, Keltner JL, Klein M, Klopstock T, Koene S, Koenig MK, Koga Y, Krotoski D, Laforet P, Lombes A, McFarland R, Milone M, Morgan P, Sadun AA, Saneto R, Scaglia F, Scharfe C, Sheldon C, Smeitink J, Stacpoole PW, Stanley CA, Thorburn D, Vaurio R, Votruba M, Wahbi K, Willi SM, Wolfe LA, Yang E, Yeske P, Zuchner S, Zullo S. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Journal of Inherited Metabolic Disease 2017, 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. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology 2017, 74(6), 686-694.
  • Ulrick N, Goldstein A, Simons C, Taft RJ, Heiman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tetreault M, Majewski J, Bernard G, Ng YS, McFarland R, Vanderver A, Care4Rare Canada Consortium. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Pediatric Neurology 2017, 66, 59-62.
  • Vincent AE, Ng YS, White K, Davey T, Mannella C, Falkous G, Feeney C, Schaefer AM, McFarland R, Gorman GS, Taylor RW, Turnbull DM, Picard M. The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy. Scientific Reports 2016, 6, 30610.
  • Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houstek J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvilova 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, Ostergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Journal of Medical Genetics 2016, 53(11), 768-775.
  • Kennedy H, Haack TB, Hartill V, Matakovic 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, Hofken 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. Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2. American Journal of Human Genetics 2016, 99(3), 674-682.
  • Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults. European Heart Journal 2016, 37(32), 2552-2559.
  • 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. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. Journal of Inherited Metabolic Disease 2016, 39(2), 243-252.
  • Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Molecular Genetics and Metabolism 2016, 118(3), 178-184.
  • Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He LP, 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 ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. American Journal of Human Genetics 2016, 99(4), 860-876.
  • Metodiev MD, Thompson K, Alston CL, Morris AAM, He LP, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rotig A, Taylor RW. Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies. American Journal of Human Genetics 2016, 98(5), 993-1000.
  • Ng YS, Feeney C, Schaefer AM, Holmes CE, Hynd P, Alston CL, Grady JP, Roberts M, Maguire M, Bright A, Taylor RW, Yiannakou Y, McFarland R, Turnbull DM, Gorman GS. Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination. Annals of Neurology 2016, 80(5), 686-692.
  • Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nature Reviews Disease Primers 2016, 2, 16080.
  • Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung C-W, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM. International Paediatric Mitochondrial Disease Scale. Journal of Inherited Metabolic Disease 2016, 39(5), 705-712.
  • 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. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Journal of Pediatric Gastroenterology and Nutrition 2016, 63(6), 592-597.
  • Gupta A, Colmenero I, Ragge NK, Blakely EL, He L, McFarland R, Taylor RW, Vogt J, Milford DV. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: A case report. BMC Research Notes 2016, 9(1), 325.
  • Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurology 2016, 73(6), 668-674.
  • Hall AM, Vilasi A, Garcia-Perez I, Lapsley M, Alston CL, Pitceathly RDS, McFarland R, Schaefer AM, Turnbull DM, Beaumont NJ, Hsuan JJ, Cutillas PR, Lindon JC, Holmes E, Unwin RJ, Taylor RW, Gorman GS, Rahman S, Hanna MG. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. Kidney International 2015, 87(3), 610-622.
  • 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 Metabolism 2015, 21(3), 417-427.
  • Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Annals of Neurology 2015, 77(5), 753-759.
  • Newman J, Galna B, Jakovljevic D, Bates M, Schaefer A, McFarland R, Turnbull D, Trenell M, Taylor R, Rochester L, Gorman G. Preliminary Evaluation of Clinician Rated Outcome Measures in Mitochondrial Disease. Journal Of Neuromuscular Diseases 2015, 2(2), 151-155.
  • Gorman GS, Elson JL, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscular Disorders 2015, 25(7), 563-566.
  • Gorman GS, Blakely EL, Hornig-Do HT, Tuppen HAL, Greaves LC, He LP, Baker A, Falkous G, Newman J, Trenell MI, Lecky B, Petty RK, Turnbull DM, McFarland R, Taylor RW. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. Clinical Science 2015, 128(12), 895-904.
  • Lax NZ, Alston CL, Schon K, Park S, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Journal of Neuropathology & Experimental Neurology 2015, 74(7), 688-703.
  • Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernandez-Marmiesse A, Palacios L, Jou C, Jimenez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Frontiers in Genetics 2015, 6(MAR).
  • Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM. Epilepsy in Adults With Mitochondrial Disease: A Cohort Study. Annals of Neurology 2015, 78(6), 949-957.
  • Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal Expansion of Secondary Mitochondrial DNA Deletions Associated With Spinocerebellar Ataxia Type 28. JAMA Neurology 2015, 72(1), 106-111.
  • Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Burgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. Journal of Inherited Metabolic Disease 2015, 38(5), 905-914.
  • Olahova M, Haack TB, Alston CL, Houghton JAC, He L, Morris AAM, Brown GK, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Prokisch H, Taylor RW. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency. European Journal of Human Genetics 2015, 23(7), 935-939.
  • Alston CL, Berti CC, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Human Genetics 2015, 134(8), 869-879.
  • Olahova M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AAM, 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 ZMA, Taylor RW. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population. Brain 2015, 138(12), 3503-3519.
  • Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He LP, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AAM, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. Journal of the American Medical Association 2014, 312(1), 68-77.
  • Pfeffer G, Gorman GS, Griffin H, Kurzawa-Akanbi M, Blakely EL, Wilson I, Sitarz K, Moore D, Murphy JL, Alston CL, Pyle A, Coxhead J, Payne B, Gorrie GH, Longman C, Hadjivassiliou M, McConville J, Dick D, Imam I, Hilton D, Norwood F, Baker MR, Jaiser SR, Yu-Wai-Man P, Farrell M, McCarthy A, Lynch T, McFarland R, Schaefer AM, Turnbull DM, Horvath R, Taylor RW, Chinnery PF. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. Brain 2014, 137(5), 1323-1336.
  • Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He LP, Reza M, Oliveira JMA, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZMA. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease 2014, 1842(1), 56-64.
  • Grady JP, Campbell G, Ratnaike T, Blakely EL, Falkous G, Nesbitt V, Schaefer AM, McNally RJ, Gorman GS, Taylor RW, Turnbull DM, McFarland R. Disease progression in patients with single, large-scale mitochondrial DNA deletions. Brain 2014, 137(2), 323-334.
  • Galna B, Newman J, Jakovljevic DG, Bates MG, Schaefer AM, McFarland R, Turnbull DM, Trenell MI, Gorman GS, Rochester L. Discrete gait characteristics are associated with m.3243A > G and m.8344A > G variants of mitochondrial disease and its pathological consequences. Journal of Neurology 2014, 261(1), 73-82.
  • 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. Defective i⁶A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA. PLoS Genetics 2014, 10(6), e1004424.
  • 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 rnitochondrial disease. European Journal of Human Genetics 2014, 22(11), 1255-1259.
  • 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.
  • 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.
  • Wedatilake Y, Brown RM, McFarland R, Yaplito-Lee J, Morris AAM, Champion M, Jardine PE, Clarke A, Thorburn DR, Taylor RW, Land JM, Forrest K, Dobbie A, Simmons L, Aasheim ET, Ketteridge D, Hanrahan D, Chakrapani A, Brown GK, Rahman S. SURF1 deficiency: a multi-centre natural history study. Orphanet Journal of Rare Diseases 2013, 8, 96.
  • 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. Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease. Human Mutation 2013, 34(9), 1260-1268.
  • 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. Nature Reviews Neurology 2013, 9(8), 474-481.
  • 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.
  • 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.
  • Bates MG, Newman JH, Jakovljevic DG, Hollingsworth KG, Alston CL, Zalewski P, Klawe JJ, Blamire AM, Macgowan GA, Keavney BD, Bourke JP, Schaefer A, McFarland R, Newton JL, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>g-related mitochondrial disease. International Journal of Cardiology 2013, 168(4), 3599-3608.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Cope TE, McFarland R, Schaefer A. Rapid-onset, linezolid-induced lactic acidosis in MELAS. Mitochondrion 2011, 11(6), 992-993.
  • 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.
  • 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.
  • 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.
  • 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.
  • Gilson C, McFarland R, Forsyth R. Autosomal dominant acute necrotising encephalopathy: A case report with possible disease-expression modification by coincidental homocysteinuria. European Journal of Paediatric Neurology 2011, 15(2), 174-176.
  • 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.
  • 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 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.
  • 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.
  • 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.
  • 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.
  • Morava E, Gardeitchik T, Kozicz T, de Boer L, Koene S, de Vries MC, McFarland R, Roobol T, Rodenburg RJT, Verhaak CM. Depressive behaviour in children diagnosed with a mitochondrial disorder. Mitochondrion 2010, 10(5), 528-533.
  • 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), E984-E992.
  • 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.
  • 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.
  • Wolny S, McFarland R, Chinnery P, Cheetham T. Abnormal growth in mitochondrial disease. Acta Paediatrica 2009, 98(3), 553-554.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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, 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, 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.
  • Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull PM, McFarland R, Taylor RW. Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation. Journal of the Neurological Sciences 2004, 225(1-2), 99-103.
  • 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.
  • 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, 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.
  • 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.
  • Turnbull DM, Taylor RW, McFarland RM, Schaefer AM. Defects of the mitochondrial genome. SAGGI - Child Development and Disabilities 2002, 28(1), 75-82.
  • 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.

• Book Chapters

  • Ng YS, McFarland R. Mitochondrial encephalomyopathy. In: Younger DS, ed. Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders. Amsterdam: Elsevier B.V, 2023, pp.563-585.
  • 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.

• Conference Proceedings (inc. Abstracts)

  • Devine H, Ng Y, McFarland R, Gorman G, Browning A. Ophthalmological involvement in m.3243A>G-related mitochondrial disease. In: ABN Annual Meeting 2022. 2022, Harrogate: BMJ Publishing Group.
  • Reeves T, Williams E, Waugh S, Gunti S, Basu A, Devlin A, Forsyth R, Mcfarland R, Pang K, van Ruiten H, Roncero I. Chickenpox and stroke - joining the dots. In: British Paediatric Neurology Association, Abstracts of the Annual Meeting. 2022, Dublin (Virtual): Wiley.
  • Currigan V, Basu A, Battersby A, McFarland R, Mitra D. Two cases of group A streptococcal associated cerebellitis. In: British Paediatric Neurology Association Annual Meeting. 2019, Liverpool: Wiley-Blackwell.
  • Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BH, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. Solid organ transplantation in primary mitochondrial disease: Proceed with caution. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Seattle: Elsevier BV.
  • Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Lalani S, Scott KL, Taylor RW, Bonnen PE. ABAT is a novel human mitochondrial DNA depletion syndrome gene linking gamma-aminobutyric acid (GABA) catabolism and mitochondrial nucleoside metabolism. In: Meeting of the Society for Inherited Metabolic Disorders. 2015, Salt Lake City, UT, USA: Academic Press.
  • Shaw S, Ng YS, Whittaker R, McFarland R, Turnbull D, Gorman G, Schaefer A. A clinical audit of acute management of stroke-like episodes from a national mitochondrial disease centre. In: 2015 ABN Annual Meeting. 2015, London, UK: BMJ Group.
  • Ng YS, Lax N, Schaefer A, Radunovic A, Ralph M, Alhakim A, Taylor R, Turnbull D, McFarland R, Gorman G. Sudden Unexpected Death in Adults with M.3243A>G Mutation. In: Association of British Neurologists Annual Meeting. 2014, Cardiff, UK: BMJ Publishing Group.
  • Ng Y, Alston C, Horvath R, Farrugia M, Chinnery P, Turnbull D, Taylor R, McFarland R, Schaefer A, Gorman G. A genetic weakness - Phoenician legacy or Celtic heritage?. In: Association of British Neurologists Annual Meeting. 2014, Cardiff: BMJ Publishing Group.
  • Nesbitt V, Pitceathly R, Cockell S, Poulton J, Rahman S, Hanna M, Taylor R, Chinnery P, Turnbull D, McFarland R. The Medical Research Council Neuromuscular Centre for Translational Research Mitochondrial Disease Patient Cohort Study UK: From Conceptualisation to Utilisation. In: Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP). 2013, London, UK: BMJ Publishing Group.
  • 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.
  • Newman J, Galna B, Jakovljevic D, Bates M, Schaefer A, McFarland R, Turnbull D, Trenell M, Rochester L, Gorman G. Evaluation of Functional Outcome Measures as a Surrogate Marker of Disease Severity in Patients with Mitochondrial Disease. In: Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP). 2013, London, UK: BMJ Publishing Group.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Nesbitt V, McFarland R. PREVALENCE OF DEAFNESS IN CHILDREN WITH MITOCHONDRIAL DNA DISEASE. In: PEDIATRIC RESEARCH. 2011, 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA: NATURE PUBLISHING GROUP.
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.

• Editorials

  • McFarland R. Cerebral folate deficiency-mishaps and misdirection. Brain 2012, 135(7), 2002-2003.
  • 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.
  • 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.
  • 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.

• Letters

  • Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC. Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”. Journal of Inherited Metabolic Disease 2021, 44(1), 6-7.
  • Alston CL, Blakely EL, McFarland R, Taylor RW. The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant. Journal of the Neurological Sciences 2020, 417, 116950.
  • Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Mitochondrial donation - Which women could benefit?. New England Journal of Medicine 2019, 380(20), 1971-1972.
  • Gorman GS, McFarland R, Stewart J, Feeney C, Turnbull DM. Mitochondrial donation: from test tube to clinic. The Lancet 2018, 392(10154), 1191-1192.
  • Gorman GS, Grady JP, Ng Y, Schaefer AM, McNally RJ, Chinnery PF, Man PY, Herbert M, Taylor RW, McFarland R, Turnbull DM. Mitochondrial Donation: How Many Women Could Benefit?. New England Journal of Medicine 2015, 372(9), 885-887.
  • 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.
  • Schaefer AM, Whittaker R, McFarland R, Chinnery PF, Taylor RW, Turnbull DM. Reply. Annals of Neurology 2008, 64(4), 471-472.
  • 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.
  • 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.

• Notes

  • Pickett SJ, Taylor RW, McFarland R. Fit for purpose: Selecting the best mitochondrial DNA for the job. Cell Metabolism 2024, 36(7), 1436-1438.
  • McFarland R. Toning up but powering down: does mitochondrial dysfunction lead to loss of ambulation in cerebral palsy?. Developmental Medicine and Child Neurology 2021, 63(10), 1136-1136.
  • Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernandez-Marmiesse A, Palacios L, Jou C, Jimenez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Corrigendum to "Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations" [Front. Genet., 6 (2015) 102] DOI:10.3389/fgene.2015.00102. Frontiers in Genetics 2015, 6, 1.

• Reviews

  • Stefanetti RJ, Ng YS, Errington L, Blain AP, McFarland R, Gorman GS. l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Neurology 2022, 98(23), E2318-E2328.
  • Richter U, McFarland R, Taylor RW, Pickett SJ. The molecular pathology of pathogenic mitochondrial tRNA variants. FEBS Letters 2021, 595(8), 1003-1024.
  • Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. The Lancet Neurology 2021, 20(7), 573-584.
  • Fullerton M, McFarland R, Taylor RW, Alston CL. The genetic basis of isolated mitochondrial complex II deficiency. Molecular Genetics and Metabolism 2020, 131(1-2), 53-65.
  • Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Olahova M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. Journal of Inherited Metabolic Disease 2020, 43(1), 36-50.
  • Stefanetti RJ, Blain A, Jimenez-Moreno C, Errington L, Ng YS, McFarland R, Turnbull DM, Newman J, Gorman GS. Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]. Wellcome Open Research 2020, 5(84).
  • Boggan RM, Lim A, Taylor RW, McFarland R, Pickett SJ. Resolving complexity in mitochondrial disease: Towards precision medicine. Molecular Genetics and Metabolism 2019, 128(1-2), 19-29.
  • Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WHW, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Molecular Genetics and Metabolism 2016, 119(3), 187-206.
  • Anagnostou ME, Ng YS, Taylor RW, McFarland R. Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review. Epilepsia 2016, 57(10), 1531-1545.
  • Pitceathly RDS, McFarland R. Mitochondrial myopathies in adults and children: management and therapy development. Current Opinion in Neurology 2014, 27(5), 576-582.
  • 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, Whittaker R, Turnbull D, McFarland R, Taylor R. mtDNA disease for the neurologist. Future Neurology 2011, 6(1), 63-80.
  • 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.
  • Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdisciplinary Reviews: RNA 2010, 1(2), 304-324.
  • 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.
  • McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurology 2010, 9(8), 829-840.
  • McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. Journal of Internal Medicine 2009, 265(2), 210-228.
  • McFarland R, Taylor RW, Turnbull DM. Mitochondrial Disease-Its Impact, Etiology, and Pathology. Current Topics in Developmental Biology 2007, 77, 113-155.
  • 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, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurology 2002, 1(6), 343-351.