Wellcome Trust Centre For Mitochondrial Research

Prof Robert Taylor

Personal Biography

Professor-Robert-Taylor216Following a Bachelors degree in Biochemistry and an introduction to mitochondrial bioenergetics by Dr Stan Sherratt, I undertook graduate training in the Departments of Clinical Neuroscience and Child Health under the supervision of Professor Doug Turnbull and Professor Kim Bartlett, obtaining my PhD in 1994. After seven years of post-doctoral positions in the Departments of Medicine and Neurology (funded by the Wellcome Trust) at Newcastle University, I was appointed to a Lectureship in 2001, and promoted to Senior Lecturer in 2005. In 2007, I was appointed to a Chair in Mitochondrial Pathology, Newcastle University and Honorary Consultant Clinical Scientist, Newcastle upon Tyne Hospitals NHS Foundation Trust, leading the National-Commissioned Highly Specialised NHS Mitochondrial Diagnostic laboratory.

Research Biography

I began my research by studying the biochemical and molecular genetic basis of mitochondrial respiratory chain and fatty acid oxidation disorders, with a particular emphasis on understanding the control of oxidative phosphorylation on fatty acid β-oxidation flux. Following periods of post-doctoral research focussed on investigating the role of mitochondrial DNA mutations in diabetes and the development of experimental gene therapy strategies for the treatment of heteroplasmic mitochondrial DNA disorders, I developed a programme of work embedded within a multidisciplinary,NHS Mitochondrial Diagnostic laboratory to both identify and characterise novel mitochondrial and nuclear genetic defects causing mitochondrial disease and dissect the molecular mechanisms leading to cellular dysfunction.

Research Interests

The overall aim of my research is to use biochemical, molecular genetic and cell biological tools to diagnose and characterise the molecular pathology associated with human mitochondrial (both mtDNA-derived and Mendelian) disorders so as to understand disease mechanism and benefit patient care through the development of treatments and provision of accurate genetic advice.

This work is wide-ranging, encompassing projects aimed at:

1. defining the prevalence, natural history and genotype:phenotype correlations associated mitochondrial disease

2. improving the laboratory diagnosis and options for prenatal and preconceptional genetic screening

3. documenting the neuropathological changes associated with mitochondrial genetic disease to delineate the molecular mechanisms leading to neuronal loss and neurological deficits in patients with mitochondrial disease

4. using next generation sequencing strategies including whole exome and whole genome sequencing to identify novel disease genes associated with a range of mitochondrial oxidative phosphorylation defects (focusing primarly on mtDNA depletion syndromes, isolated complex I deficiency and generalised disorders of mitochondrial protein synthesis) with the broader aim of characterising the mechanisms which underlie post-transcriptional mitochondrial gene expression.

Uniquely positioned at the diagnostic-research interface, I work closely with all the Wellcome Trust Centre PIs and collaborate extensively with a number of International clinical and basic scientists.

Awards, honours and professional service

1990 BSc (Hons) Biochemistry, Newcastle University
1994 PhD, Newcastle University
2001 Lecturer in Neuroscience, Newcastle University
2004 MRCPath, Royal College of Pathologists (Molecular Genetics)
2005 Senior Lecturer in Neuroscience, Newcastle University
2007 Professor of Mitochondrial Pathology, Newcastle University
2008 FRCPath, Royal College of Pathologists (Molecular Genetics)
2011 DSc, Newcastle University

Membership of Professional Societies

Royal College of Pathologists
British Society of Genetic Medicine.
Society for the Study of Inborn Errors of Metabolism
World Muscle Society
British Inherited Metabolic Disease Group
American Society of Human Genetics
The Pathological Society of Great Britain and Ireland

 

Recent Key Publications

 

Alston CL*, Compton AG*, Formosa LE*, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic mutations in TMEM126B cause severe complex I deficiency and a variable clinical phenotype. Am. J. Hum. Genet. 2016 doi: 10.1016/j.ajhg.2016.05.021.

Metodiev MD*, Thompson K*, Alston CL, Morris AAM, He L, Assouline Z, Rio M, Bahi-Buisson N, Pyle A, Griffin H, Siira S, Filipovska A, Munnich A, Chinnery PF, McFarland R, Rötig A, Taylor RW. Recessive mutations in TRMT10C cause defects in mitochondrial RNA processing and multiple respiratory chain deficiencies. Am. J. Hum. Genet. 2016;98:993-1000.

Oláhová 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 (2015) LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French Canadian population. Brain 2015;138:3503-3519.

Lightowlers RN, Taylor RW, Turnbull DM (2015) Mutations causing mitochondrial disease: what is new and what challenges remain? Science 2015;349:1494-1499.

Powell CA, Kopajtich R, D’Souza A, Rorbach, J, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Romaine N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk, M. Mutations in TRMT5 cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies. Am. J. Hum. Genet. 2015;97:319-328.

Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. Cell Metab. 2015;21: 417-427.

Kopajtich R, Nicholls TJ, Rorbach J, Freisinger P, Mandel H, Vanlander A, Ghezzi, D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Smet J, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES. van Coster R, Klopstock T, Haack TB, Minczuk M, Prokisch H. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis and encephalopathy. Am. J. Hum. Genet. 2014;95:708-720.

Melchionda L, Haack TB, Hardy S, Abbink TEM, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 2014;95:315-325.

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 Genet. 2014;10:e1004424.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014;312:68-77.

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

 

Publications

Ferrer-Cortès X; Narbona J; Bujan N; Matalonga L; Del Toro M; Arranz JA; Riudor E; Garcia-Cazorla A; Jou C; O'Callaghan M; Pineda M; Montero R; Arias A; García-Villoria J; Alston CL; Taylor RW; Briones P; Ribes A; Tort F, 2016. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.  Mitochondrion 26:72-80

Wilson IJ; Carling PJ; Alston CL; Floros VI; Pyle A; Hudson G; Sallevelt SC; Lamperti C; Carelli V; Bindoff LA; Samuels DC; Wonnapinij P; Zeviani M; Taylor RW; Smeets HJ; Horvath R; Chinnery PF, 2016. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck.  Hum Mol Genet 25(5):1031-41

Dalla Rosa I; Cámara Y; Durigon R; Moss CF; Vidoni S; Akman G; Hunt L; Johnson MA; Grocott S; Wang L; Thorburn DR; Hirano M; Poulton J; Taylor RW; Elgar G; Martí R; Voshol P; Holt IJ; Spinazzola A, 2016. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.  PLoS Genet 12(1):e1005779

Spiegel R; Saada A; Flannery PJ; Burté F; Soiferman D; Khayat M; Eisner V; Vladovski E; Taylor RW; Bindoff LA; Shaag A; Mandel H; Schuler-Furman O; Shalev SA; Elpeleg O; Yu-Wai-Man P, 2016. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.  J Med Genet 53(2):127-31

Staufner C; Haack TB; Köpke MG; Straub BK; Kölker S; Thiel C; Freisinger P; Baric I; McKiernan PJ; Dikow N; Harting I; Beisse F; Burgard P; Kotzaeridou U; Lenz D; Kühr J; Himbert U; Taylor RW; Distelmaier F; Vockley J; Ghaloul-Gonzalez L; Ozolek JA; Zschocke J; Kuster A; Dick A; Das AM; Wieland T; Terrile C; Strom TM; Meitinger T; Prokisch H; Hoffmann GF, 2016. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.  J Inherit Metab Dis 39(1):3-16

Casey JP; Crushell E; Thompson K; Twomey E; He L; Ennis S; Philip RK; Taylor RW; King MD; Lynch SA, 2016. Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?  JIMD Rep 26:13-9

Kullar P; Alston CL; Ball S; Blakely EL; Differ AM; Fratter C; Sweeney MG; Taylor RW; Chinnery PF, 2016. The frequency of the m.1555A>G (MTRNR1) variant in UK patients with suspected mitochondrial deafness.  Hearing Balance Commun 14(2):101-102

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

Pisano A; Cerbelli B; Perli E; Pelullo M; Bargelli V; Preziuso C; Mancini M; He L; Bates MG; Lucena JR; Della Monica PL; Familiari G; Petrozza V; Nediani C; Taylor RW; d'Amati G; Giordano C, 2016. Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.  Cardiovasc Pathol 25(2):103-12

Perli E; Fiorillo A; Giordano C; Pisano A; Montanari A; Grazioli P; Campese AF; Di Micco P; Tuppen HA; Genovese I; Poser E; Preziuso C; Taylor RW; Morea V; Colotti G; d'Amati G, 2016. Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.  Hum Mol Genet 25(5):903-15

Kullar PJ; Quail J; Lindsey P; Wilson JA; Horvath R; Yu-Wai-Man P; Gorman GS; Taylor RW; Ng Y; McFarland R; Moore BC; Chinnery PF, 2016. Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.  Brain 139(Pt 6):e33

Rygiel KA; Tuppen HA; Grady JP; Vincent A; Blakely EL; Reeve AK; Taylor RW; Picard M; Miller J; Turnbull DM, 2016. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.  Nucleic Acids Res.

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

Mathieu L; Costa AL; Le Bachelier C; Slama A; Lebre AS; Taylor RW; Bastin J; Djouadi F, 2016. Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3.  Free Radic Biol Med 96:190-198

Lewis-Smith D; Kamer KJ; Griffin H; Childs AM; Pysden K; Titov D; Duff J; Pyle A; Taylor RW; Yu-Wai-Man P; Ramesh V; Horvath R; Mootha VK; Chinnery PF, 2016. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.  Neurol Genet 2(2):e59

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

Dombi E; Diot A; Morten K; Carver J; Lodge T; Fratter C; Ng YS; Liao C; Muir R; Blakely EL; Hargreaves I; Al-Dosary M; Sarkar G; Hickman SJ; Downes SM; Jayawant S; Yu-Wai-Man P; Taylor RW; Poulton J, 2016. The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.  Neurology 86(20):1921-3

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

Nisar R; Hanson PS; He L; Taylor RW; Blain PG; Morris CM, 2015. Diquat causes caspase-independent cell death in SH-SY5Y cells by production of ROS independently of mitochondria.  Arch Toxicol 89(10):1811-25

Gorman GS; Schaefer AM; Ng Y; Gomez N; Blakely EL; Alston CL; Feeney C; Horvath R; Yu-Wai-Man P; Chinnery PF; Taylor RW; Turnbull DM; McFarland R, 2015. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.  Ann Neurol 77(5):753-9

Euro L; Konovalova S; Asin-Cayuela J; Tulinius M; Griffin H; Horvath R; Taylor RW; Chinnery PF; Schara U; Thorburn DR; Suomalainen A; Chihade J; Tyynismaa H, 2015. Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.  Front Genet 6:21

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

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

Lehmann D; Schubert K; Joshi PR; Hardy SA; Tuppen HA; Baty K; Blakely EL; Bamberg C; Zierz S; Deschauer M; Taylor RW, 2015. Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.  Eur J Hum Genet 23(12):1735-8

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

Schiff M; Haberberger B; Xia C; Mohsen AW; Goetzman ES; Wang Y; Uppala R; Zhang Y; Karunanidhi A; Prabhu D; Alharbi H; Prochownik EV; Haack T; Häberle J; Munnich A; Rötig A; Taylor RW; Nicholls RD; Kim JJ; Prokisch H; Vockley J, 2015. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.  Hum Mol Genet 24(11):3238-47

Hall AM; Vilasi A; Garcia-Perez I; Lapsley M; Alston CL; Pitceathly RD; McFarland R; Schaefer AM; Turnbull DM; Beaumont NJ; Hsuan JJ; Cutillas PR; Lindon JC; Holmes E; Unwin RJ; Taylor RW; Gorman GS; Rahman S; Hanna MG, 2015. The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.  Kidney Int 87(3):610-22

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

Olpin SE; Murphy E; Kirk RJ; Taylor RW; Quinlivan R, 2015. The investigation and management of metabolic myopathies.  J Clin Pathol 68(6):410-7

Hanisch F; Kornhuber M; Alston CL; Taylor RW; Deschauer M; Zierz S, 2015. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.  J Neurol Neurosurg Psychiatry 86(6):630-4

Keogh MJ; Daud D; Pyle A; Duff J; Griffin H; He L; Alston CL; Steele H; Taggart S; Basu AP; Taylor RW; Horvath R; Ramesh V; Chinnery PF, 2015. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.  Neurogenetics 16(1):65-7

Gorman GS; Pfeffer G; Griffin H; Blakely EL; Kurzawa-Akanbi M; Gabriel J; Sitarz K; Roberts M; Schoser B; Pyle A; Schaefer AM; McFarland R; Turnbull DM; Horvath R; Chinnery PF; Taylor RW, 2015. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28.  JAMA Neurol 72(1):106-11

McCann BJ; Tuppen HA; Küsters B; Lammens M; Smeitink JA; Taylor RW; Rodenburg RJ; Wortmann SB, 2015. A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.  Neuromuscul Disord 25(3):262-7

Lehmann D; Schubert K; Joshi PR; Baty K; Blakely EL; Zierz S; Taylor RW; Deschauer M, 2015. A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease.  Neuromuscul Disord 25(1):81-4

Gorman GS; Blakely EL; Hornig-Do HT; Tuppen HA; Greaves LC; He L; Baker A; Falkous G; Newman J; Trenell MI; Lecky B; Petty RK; Turnbull DM; McFarland R; Taylor RW, 2015. Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression.  Clin Sci (Lond) 128(12):895-904

Haack TB; Staufner C; Köpke MG; Straub BK; Kölker S; Thiel C; Freisinger P; Baric I; McKiernan PJ; Dikow N; Harting I; Beisse F; Burgard P; Kotzaeridou U; Kühr J; Himbert U; Taylor RW; Distelmaier F; Vockley J; Ghaloul-Gonzalez L; Zschocke J; Kremer LS; Graf E; Schwarzmayr T; Bader DM; Gagneur J; Wieland T; Terrile C; Strom TM; Meitinger T; Hoffmann GF; Prokisch H, 2015. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.  Am J Hum Genet 97(1):163-9

Elson JL; Smith PM; Greaves LC; Lightowlers RN; Chrzanowska-Lightowlers ZM; Taylor RW; Vila-Sanjurjo A, 2015. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.  Mitochondrion 25:17-27

Ahting U; Mayr JA; Vanlander AV; Hardy SA; Santra S; Makowski C; Alston CL; Zimmermann FA; Abela L; Plecko B; Rohrbach M; Spranger S; Seneca S; Rolinski B; Hagendorff A; Hempel M; Sperl W; Meitinger T; Smet J; Taylor RW; Van Coster R; Freisinger P; Prokisch H; Haack TB, 2015. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.  Front Genet 6:123

Chrysostomou A; Grady JP; Laude A; Taylor RW; Turnbull DM; Lax NZ, 2015. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.  Neuropathol Appl Neurobiol.

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

Lightowlers RN; Taylor RW; Turnbull DM, 2015. Mutations causing mitochondrial disease: What is new and what challenges remain?  Science 349(6255):1494-9

Bargiela D; Shanmugarajah P; Lo C; Blakely EL; Taylor RW; Horvath R; Wharton S; Chinnery PF; Hadjivassiliou M, 2015. Mitochondrial pathology in progressive cerebellar ataxia.  Cerebellum Ataxias 2:16

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

Rocha MC; Grady JP; Grünewald A; Vincent A; Dobson PF; Taylor RW; Turnbull DM; Rygiel KA, 2015. A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis.  Sci Rep 5:15037

Powell CA; Kopajtich R; D'Souza AR; Rorbach J; Kremer LS; Husain RA; Dallabona C; Donnini C; Alston CL; Griffin H; Pyle A; Chinnery PF; Strom TM; Meitinger T; Rodenburg RJ; Schottmann G; Schuelke M; Romain N; Haller RG; Ferrero I; Haack TB; Taylor RW; Prokisch H; Minczuk M, 2015. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies.  Am J Hum Genet 97(2):319-28

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

Haack TB; Jackson CB; Murayama K; Kremer LS; Schaller A; Kotzaeridou U; de Vries MC; Schottmann G; Santra S; Büchner B; Wieland T; Graf E; Freisinger P; Eggimann S; Ohtake A; Okazaki Y; Kohda M; Kishita Y; Tokuzawa Y; Sauer S; Memari Y; Kolb-Kokocinski A; Durbin R; Hasselmann O; Cremer K; Albrecht B; Wieczorek D; Engels H; Hahn D; Zink AM; Alston CL; Taylor RW; Rodenburg RJ; Trollmann R; Sperl W; Strom TM; Hoffmann GF; Mayr JA; Meitinger T; Bolognini R; Schuelke M; Nuoffer JM; Kölker S; Prokisch H; Klopstock T, 2015. Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.  Ann Clin Transl Neurol 2(5):492-509

Rygiel KA; Grady JP; Taylor RW; Tuppen HA; Turnbull DM, 2015. Triplex real-time PCR--an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells.  Sci Rep 5:9906

Payne BA; Gardner K; Blakely EL; Maddison P; Horvath R; Taylor RW; Chinnery PF, 2015. Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment.  JAMA Neurol 72(5):603-5

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

Rygiel KA; Miller J; Grady JP; Rocha MC; Taylor RW; Turnbull DM, 2015. Mitochondrial and inflammatory changes in sporadic inclusion body myositis.  Neuropathol Appl Neurobiol 41(3):288-303

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

Ng YS; Grady JP; Lax NZ; Bourke JP; Alston CL; Hardy SA; Falkous G; Schaefer AG; Radunovic A; Mohiddin SA; Ralph M; Alhakim A; Taylor RW; McFarland R; Turnbull DM; Gorman GS, 2015. Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.  Eur Heart J.

Nisar R; Hanson PS; He L; Taylor RW; Blain PG; Morris CM, 2015. Erratum to: Diquat causes caspase-independent cell death in SH-SY5Y cells by production of ROS independently of mitochondria.  Arch Toxicol 89(10):1827

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

Pfeffer G; Gorman GS; Griffin H; Kurzawa-Akanbi M; Blakely EL; Wilson I; Sitarz K; Moore D; Murphy JL; Alston CL; Pyle A; Coxhead J; Payne B; Gorrie GH; Longman C; Hadjivassiliou M; McConville J; Dick D; Imam I; Hilton D; Norwood F; Baker MR; Jaiser SR; Yu-Wai-Man P; Farrell M; McCarthy A; Lynch T; McFarland R; Schaefer AM; Turnbull DM; Horvath R; Taylor RW; Chinnery PF, 2014. Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.  Brain 137(Pt 5):1323-36

Campbell G; Krishnan KJ; Deschauer M; Taylor RW; Turnbull DM, 2014. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.  Hum Mol Genet 23(17):4612-20

Pyle A; Ramesh V; Bartsakoulia M; Boczonadi V; Gomez-Duran A; Herczegfalvi A; Blakely EL; Smertenko T; Duff J; Eglon G; Moore D; Yu-Wai-Man P; Douroudis K; Santibanez-Koref M; Griffin H; Lochmüller H; Karcagi V; Taylor RW; Chinnery PF; Horvath R, 2014. Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.  J Neuromuscul Dis 1(1):55-63

Uusimaa J; Evans J; Smith C; Butterworth A; Craig K; Ashley N; Liao C; Carver J; Diot A; Macleod L; Hargreaves I; Al-Hussaini A; Faqeih E; Asery A; Al Balwi M; Eyaid W; Al-Sunaid A; Kelly D; van Mourik I; Ball S; Jarvis J; Mulay A; Hadzic N; Samyn M; Baker A; Rahman S; Stewart H; Morris AA; Seller A; Fratter C; Taylor RW; Poulton J, 2014. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.  Eur J Hum Genet 22(2):184-91

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

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

Al-Hussaini A; Faqeih E; El-Hattab AW; Alfadhel M; Asery A; Alsaleem B; Bakhsh E; Ali A; Alasmari A; Lone K; Nahari A; Eyaid W; Al Balwi M; Craig K; Butterworth A; He L; Taylor RW, 2014. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.  J Pediatr 164(3):553-9.e1-2

Grünewald A; Lax NZ; Rocha MC; Reeve AK; Hepplewhite PD; Rygiel KA; Taylor RW; Turnbull DM, 2014. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue.  J Neurosci Methods 232:143-9

Greaves LC; Nooteboom M; Elson JL; Tuppen HA; Taylor GA; Commane DM; Arasaradnam RP; Khrapko K; Taylor RW; Kirkwood TB; Mathers JC; Turnbull DM, 2014. Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing.  PLoS Genet 10(9):e1004620

Kopajtich R; Nicholls TJ; Rorbach J; Metodiev MD; Freisinger P; Mandel H; Vanlander A; Ghezzi D; Carrozzo R; Taylor RW; Marquard K; Murayama K; Wieland T; Schwarzmayr T; Mayr JA; Pearce SF; Powell CA; Saada A; Ohtake A; Invernizzi F; Lamantea E; Sommerville EW; Pyle A; Chinnery PF; Crushell E; Okazaki Y; Kohda M; Kishita Y; Tokuzawa Y; Assouline Z; Rio M; Feillet F; Mousson de Camaret B; Chretien D; Munnich A; Menten B; Sante T; Smet J; Régal L; Lorber A; Khoury A; Zeviani M; Strom TM; Meitinger T; Bertini ES; Van Coster R; Klopstock T; Rötig A; Haack TB; Minczuk M; Prokisch H, 2014. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.  Am J Hum Genet 95(6):708-20

Di Foggia V; Zhang X; Licastro D; Gerli MF; Phadke R; Muntoni F; Mourikis P; Tajbakhsh S; Ellis M; Greaves LC; Taylor RW; Cossu G; Robson LG; Marino S, 2014. Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy.  J Exp Med 211(13):2617-33

Melchionda L; Haack TB; Hardy S; Abbink TE; Fernandez-Vizarra E; Lamantea E; Marchet S; Morandi L; Moggio M; Carrozzo R; Torraco A; Diodato D; Strom TM; Meitinger T; Tekturk P; Yapici Z; Al-Murshedi F; Stevens R; Rodenburg RJ; Lamperti C; Ardissone A; Moroni I; Uziel G; Prokisch H; Taylor RW; Bertini E; van der Knaap MS; Ghezzi D; Zeviani M, 2014. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.  Am J Hum Genet 95(3):315-25

Blakely EL; Alston CL; Lecky B; Chakrabarti B; Falkous G; Turnbull DM; Taylor RW; Gorman GS, 2014. Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.  Neuromuscul Disord 24(6):533-6

Taylor RW; Pyle A; Griffin H; Blakely EL; Duff J; He L; Smertenko T; Alston CL; Neeve VC; Best A; Yarham JW; Kirschner J; Schara U; Talim B; Topaloglu H; Baric I; Holinski-Feder E; Abicht A; Czermin B; Kleinle S; Morris AA; Vassallo G; Gorman GS; Ramesh V; Turnbull DM; Santibanez-Koref M; McFarland R; Horvath R; Chinnery PF, 2014. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.  JAMA 312(1):68-77

Grady JP; Murphy JL; Blakely EL; Haller RG; Taylor RW; Turnbull DM; Tuppen HA, 2014. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle.  PLoS One 9(12):e114462

Griffin HR; Pyle A; Blakely EL; Alston CL; Duff J; Hudson G; Horvath R; Wilson IJ; Santibanez-Koref M; Taylor RW; Chinnery PF, 2014. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.  Genet Med 16(12):962-71

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

Lax NZ; Gnanapavan S; Dowson SJ; Alston CL; He L; Polvikoski TM; Jaros E; O'Donovan DG; Yarham JW; Turnbull DM; Dean AF; Taylor RW, 2013. Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.  J Neuropathol Exp Neurol 72(2):164-75

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

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

Bates MG; Hollingsworth KG; Newman JH; Jakovljevic DG; Blamire AM; MacGowan GA; Keavney BD; Chinnery PF; Turnbull DM; Taylor RW; Trenell MI; Gorman GS, 2013. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers.  Eur Heart J Cardiovasc Imaging 14(7):650-8

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

Payne BA; Wilson IJ; Yu-Wai-Man P; Coxhead J; Deehan D; Horvath R; Taylor RW; Samuels DC; Santibanez-Koref M; Chinnery PF, 2013. Universal heteroplasmy of human mitochondrial DNA.  Hum Mol Genet 22(2):384-90

Gavriilidis C; Miwa S; von Zglinicki T; Taylor RW; Young DA, 2013. Mitochondrial dysfunction in osteoarthritis is associated with down-regulation of superoxide dismutase 2.  Arthritis Rheum 65(2):378-87

Campbell GR; Reeve A; Ziabreva I; Polvikoski TM; Taylor RW; Reynolds R; Turnbull DM; Mahad DJ, 2013. Mitochondrial DNA deletions and depletion within paraspinal muscles.  Neuropathol Appl Neurobiol 39(4):377-89

Yu-Wai-Man C; Smith FE; Firbank MJ; Guthrie G; Guthrie S; Gorman GS; Taylor RW; Turnbull DM; Griffiths PG; Blamire AM; Chinnery PF; Yu-Wai-Man P, 2013. Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia.  PLoS One 8(9):e75048

Alston CL; Schaefer AM; Raman P; Solaroli N; Krishnan KJ; Blakely EL; He L; Craig K; Roberts M; Vyas A; Nixon J; Horvath R; Turnbull DM; Karlsson A; Gorman GS; Taylor RW, 2013. Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions.  Neurology 81(23):2051-3

Whittaker RG; Hall E; Mansoor MK; Taylor RW; Turnbull DM, 2013. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease.  J Peripher Nerv Syst 18(1):59-61

Spendiff S; Reza M; Murphy JL; Gorman G; Blakely EL; Taylor RW; Horvath R; Campbell G; Newman J; Lochmüller H; Turnbull DM, 2013. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.  Hum Mol Genet 22(23):4739-47

Spyropoulos A; Manford M; Horvath R; Alston CL; Yu-Wai-Man P; He L; Taylor RW; Chinnery PF, 2013. Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.  JAMA Neurol 70(12):1552-5

Bates MG; Newman JH; Jakovljevic DG; Hollingsworth KG; Alston CL; Zalewski P; Klawe JJ; Blamire AM; MacGowan GA; Keavney BD; Bourke JP; Schaefer A; McFarland R; Newton JL; Turnbull DM; Taylor RW; Trenell MI; Gorman GS, 2013. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease.  Int J Cardiol 168(4):3599-608

Blakely EL; Yarham JW; Alston CL; Craig K; Poulton J; Brierley C; Park SM; Dean A; Xuereb JH; Anderson KN; Compston A; Allen C; Sharif S; Enevoldson P; Wilson M; Hammans SR; Turnbull DM; McFarland R; Taylor RW, 2013. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.  Hum Mutat 34(9):1260-8

Schaefer AM; Walker M; Turnbull DM; Taylor RW, 2013. Endocrine disorders in mitochondrial disease.  Mol Cell Endocrinol 379(1-2):2-11

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

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

Lax NZ; Campbell GR; Reeve AK; Ohno N; Zambonin J; Blakely EL; Taylor RW; Bonilla E; Tanji K; DiMauro S; Jaros E; Lassmann H; Turnbull DM; Mahad DJ, 2012. Loss of myelin-associated glycoprotein in kearns-sayre syndrome.  Arch Neurol 69(4):490-9

Lax NZ; Whittaker RG; Hepplewhite PD; Reeve AK; Blakely EL; Jaros E; Ince PG; Taylor RW; Fawcett PR; Turnbull DM, 2012. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.  Brain 135(Pt 1):62-71

Greaves LC; Reeve AK; Taylor RW; Turnbull DM, 2012. Mitochondrial DNA and disease.  J Pathol 226(2):274-86

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

Craig K; Young MJ; Blakely EL; Longley MJ; Turnbull DM; Copeland WC; Taylor RW, 2012. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.  Mitochondrion 12(2):313-9

Horvath R; Czermin B; Gulati S; Demuth S; Houge G; Pyle A; Dineiger C; Blakely EL; Hassani A; Foley C; Brodhun M; Storm K; Kirschner J; Gorman GS; Lochmüller H; Holinski-Feder E; Taylor RW; Chinnery PF, 2012. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3.  J Neurol Neurosurg Psychiatry 83(2):174-8

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

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

Sitarz KS; Almind GJ; Horvath R; Czermin B; Grønskov K; Pyle A; Taylor RW; Larsen M; Chinnery PF; Yu-Wai-Man P, 2012. OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy.  Neurology 79(14):1515-7

Greaves LC; Elson JL; Nooteboom M; Grady JP; Taylor GA; Taylor RW; Mathers JC; Kirkwood TB; Turnbull DM, 2012. Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations.  PLoS Genet 8(11):e1003082

Neeve VC; Samuels DC; Bindoff LA; van den Bosch B; Van Goethem G; Smeets H; Lombès A; Jardel C; Hirano M; Dimauro S; De Vries M; Smeitink J; Smits BW; de Coo IF; Saft C; Klopstock T; Keiling BC; Czermin B; Abicht A; Lochmüller H; Hudson G; Gorman GG; Turnbull DM; Taylor RW; Holinski-Feder E; Chinnery PF; Horvath R, 2012. What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?  Brain 135(Pt 12):3614-26

Lax NZ; Pienaar IS; Reeve AK; Hepplewhite PD; Jaros E; Taylor RW; Kalaria RN; Turnbull DM, 2012. Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.  Brain 135(Pt 6):1736-50

Bates MG; Bourke JP; Giordano C; d'Amati G; Turnbull DM; Taylor RW, 2012. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.  Eur Heart J 33(24):3023-33

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

Pfeffer G; Blakely EL; Alston CL; Hassani A; Boggild M; Horvath R; Samuels DC; Taylor RW; Chinnery PF, 2012. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations.  J Neurol Neurosurg Psychiatry 83(9):883-6

Murphy JL; Ratnaike TE; Shang E; Falkous G; Blakely EL; Alston CL; Taivassalo T; Haller RG; Taylor RW; Turnbull DM, 2012. Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy.  Neuromuscul Disord 22(8):690-8

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

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

Swalwell H; Kirby DM; Blakely EL; Mitchell A; Salemi R; Sugiana C; Compton AG; Tucker EJ; Ke BX; Lamont PJ; Turnbull DM; McFarland R; Taylor RW; Thorburn DR, 2011. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.  Eur J Hum Genet 19(7):769-75

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

Stewart JD; Schoeler S; Sitarz KS; Horvath R; Hallmann K; Pyle A; Yu-Wai-Man P; Taylor RW; Samuels DC; Kunz WS; Chinnery PF, 2011. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.  Biochim Biophys Acta 1812(3):321-5

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

Blackwood JK; Williamson SC; Greaves LC; Wilson L; Rigas AC; Sandher R; Pickard RS; Robson CN; Turnbull DM; Taylor RW; Heer R, 2011. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells.  J Pathol 225(2):181-8

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

Gorman GS; Taylor RW, 2011. Mitochondrial DNA abnormalities in ophthalmological disease.  Saudi J Ophthalmol 25(4):395-404

Blackwood JK; Whittaker RG; Blakely EL; Alston CL; Turnbull DM; Taylor RW, 2010. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells.  Biochem Biophys Res Commun 393(4):740-5

Greaves LC; Yu-Wai-Man P; Blakely EL; Krishnan KJ; Beadle NE; Kerin J; Barron MJ; Griffiths PG; Dickinson AJ; Turnbull DM; Taylor RW, 2010. Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.  Invest Ophthalmol Vis Sci 51(7):3340-6

Krishnan KJ; Blackwood JK; Reeve AK; Turnbull DM; Taylor RW, 2010. Detection of mitochondrial DNA variation in human cells.  Methods Mol Biol 628:227-57

Yu-Wai-Man P; Lai-Cheong J; Borthwick GM; He L; Taylor GA; Greaves LC; Taylor RW; Griffiths PG; Turnbull DM, 2010. Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles.  Invest Ophthalmol Vis Sci 51(7):3347-53

Greaves LC; Barron MJ; Plusa S; Kirkwood TB; Mathers JC; Taylor RW; Turnbull DM, 2010. Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts.  Exp Gerontol 45(7-8):573-9

Tuppen HA; Blakely EL; Turnbull DM; Taylor RW, 2010. Mitochondrial DNA mutations and human disease.  Biochim Biophys Acta 1797(2):113-28

Nooteboom M; Johnson R; Taylor RW; Wright NA; Lightowlers RN; Kirkwood TB; Mathers JC; Turnbull DM; Greaves LC, 2010. Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts.  Aging Cell 9(1):96-9

Alston CL; Morak M; Reid C; Hargreaves IP; Pope SA; Land JM; Heales SJ; Horvath R; Mundy H; Taylor RW, 2010. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.  Neuromuscul Disord 20(2):131-5

Yu-Wai-Man P; Griffiths PG; Gorman GS; Lourenco CM; Wright AF; Auer-Grumbach M; Toscano A; Musumeci O; Valentino ML; Caporali L; Lamperti C; Tallaksen CM; Duffey P; Miller J; Whittaker RG; Baker MR; Jackson MJ; Clarke MP; Dhillon B; Czermin B; Stewart JD; Hudson G; Reynier P; Bonneau D; Marques W Jr; Lenaers G; McFarland R; Taylor RW; Turnbull DM; Votruba M; Zeviani M; Carelli V; Bindoff LA; Horvath R; Amati-Bonneau P; Chinnery PF, 2010. Multi-system neurological disease is common in patients with OPA1 mutations.  Brain 133(Pt 3):771-86

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

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

Craven L; Tuppen HA; Greggains GD; Harbottle SJ; Murphy JL; Cree LM; Murdoch AP; Chinnery PF; Taylor RW; Lightowlers RN; Herbert M; Turnbull DM, 2010. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease.  Nature 465(7294):82-5

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

Zambonin J; Engeham S; Campbell GR; Ziabreva I; Beadle NE; Taylor RW; Mahad DJ, 2010. Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons.  J Neurosci Methods 192(1):115-20

Alston CL; Lowe J; Turnbull DM; Maddison P; Taylor RW, 2010. A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle.  J Neurol Sci 298(1-2):140-4

Yu-Wai-Man P; Griffiths PG; Burke A; Sellar PW; Clarke MP; Gnanaraj L; Ah-Kine D; Hudson G; Czermin B; Taylor RW; Horvath R; Chinnery PF, 2010. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.  Ophthalmology 117(8):1538-46, 1546.e1

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

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

Scott JL; Gabrielides C; Davidson RK; Swingler TE; Clark IM; Wallis GA; Boot-Handford RP; Kirkwood TB; Taylor RW; Young DA, 2010. Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease.  Ann Rheum Dis 69(8):1502-10

Blakely EL; Trip SA; Swalwell H; He L; Wren DR; Rich P; Turnbull DM; Omer SE; Taylor RW, 2009. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.  Arch Neurol 66(3):399-402

Stewart JD; Tennant S; Powell H; Pyle A; Blakely EL; He L; Hudson G; Roberts M; du Plessis D; Gow D; Mewasingh LD; Hanna MG; Omer S; Morris AA; Roxburgh R; Livingston JH; McFarland R; Turnbull DM; Chinnery PF; Taylor RW, 2009. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.  J Med Genet 46(3):209-14

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

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

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

Reeve AK; Krishnan KJ; Taylor G; Elson JL; Bender A; Taylor RW; Morris CM; Turnbull DM, 2009. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons.  Aging Cell 8(4):496-8

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

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

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

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

Krishnan KJ; Reeve AK; Samuels DC; Chinnery PF; Blackwood JK; Taylor RW; Wanrooij S; Spelbrink JN; Lightowlers RN; Turnbull DM, 2008. What causes mitochondrial DNA deletions in human cells?  Nat Genet 40(3):275-9

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

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

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

Hudson G; Amati-Bonneau P; Blakely EL; Stewart JD; He L; Schaefer AM; Griffiths PG; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull DM; Chinnery PF; Taylor RW, 2008. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.  Brain 131(Pt 2):329-37

Betts J; Barron MJ; Needham SJ; Schaefer AM; Taylor RW; Turnbull DM, 2008. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.  Neurology 70(15):1290-2

Murphy JL; Blakely EL; Schaefer AM; He L; Wyrick P; Haller RG; Taylor RW; Turnbull DM; Taivassalo T, 2008. Resistance training in patients with single, large-scale deletions of mitochondrial DNA.  Brain 131(Pt 11):2832-40

Swalwell H; Blakely EL; Sutton R; Tonska K; Elstner M; He L; Taivassalo T; Burns DK; Turnbull DM; Haller RG; Davidson MM; Taylor RW, 2008. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: are two mutations better than one?  Eur J Hum Genet 16(10):1265-74

Blakely E; He L; Gardner JL; Hudson G; Walter J; Hughes I; Turnbull DM; Taylor RW, 2008. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.  Neuromuscul Disord 18(7):557-60

Stewart JD; Hudson G; Yu-Wai-Man P; Blakeley EL; He L; Horvath R; Maddison P; Wright A; Griffiths PG; Turnbull DM; Taylor RW; Chinnery PF, 2008. OPA1 in multiple mitochondrial DNA deletion disorders.  Neurology 71(22):1829-31

Kyriakouli DS; Boesch P; Taylor RW; Lightowlers RN, 2008. Progress and prospects: gene therapy for mitochondrial DNA disease.  Gene Ther 15(14):1017-23

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

Hudson G; Schaefer AM; Taylor RW; Tiangyou W; Gibson A; Venables G; Griffiths P; Burn DJ; Turnbull DM; Chinnery PF, 2007. Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.  Arch Neurol 64(4):553-7

Kirby DM; Thorburn DR; Turnbull DM; Taylor RW, 2007. Biochemical assays of respiratory chain complex activity.  Methods Cell Biol 80:93-119

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

Elson JL; Turnbull DM; Taylor RW, 2007. Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach.  Biochem J 404(2):e3-5

Phoenix C; Taylor GA; Hartley J; Nixon H; Ince PG; Shaw PJ; Turnbull DM; Taylor RW, 2007. Investigation of the mitochondrial genome in patients with atypical motor neuron disease.  J Neurol 254(4):482-7

Taylor RW; Turnbull DM, 2007. Mitochondrial DNA transcription: regulating the power supply.  Cell 130(2):211-3

Gardner JL; Craven L; Turnbull DM; Taylor RW, 2007. Experimental strategies towards treating mitochondrial DNA disorders.  Biosci Rep 27(1-3):139-50

Krishnan KJ; Bender A; Taylor RW; Turnbull DM, 2007. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells.  Anal Biochem 370(1):127-9

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

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

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

Blakely EL; Rennie KJ; Jones L; Elstner M; Chrzanowska-Lightowlers ZM; White CB; Shield JP; Pilz DT; Turnbull DM; Poulton J; Taylor RW, 2006. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.  Pediatr Res 59(3):440-4

Swalwell H; Deschauer M; Hartl H; Strauss M; Turnbull DM; Zierz S; Taylor RW, 2006. Pure myopathy associated with a novel mitochondrial tRNA gene mutation.  Neurology 66(3):447-9

Greaves LC; Preston SL; Tadrous PJ; Taylor RW; Barron MJ; Oukrif D; Leedham SJ; Deheragoda M; Sasieni P; Novelli MR; Jankowski JA; Turnbull DM; Wright NA; McDonald SA, 2006. Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.  Proc Natl Acad Sci U S A 103(3):714-9

Bender A; Krishnan KJ; Morris CM; Taylor GA; Reeve AK; Perry RH; Jaros E; Hersheson JS; Betts J; Klopstock T; Taylor RW; Turnbull DM, 2006. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.  Nat Genet 38(5):515-7

Borthwick GM; Taylor RW; Walls TJ; Tonska K; Taylor GA; Shaw PJ; Ince PG; Turnbull DM, 2006. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.  Ann Neurol 59(3):570-4

Hudson G; Deschauer M; Taylor RW; Hanna MG; Fialho D; Schaefer AM; He LP; Blakely E; Turnbull DM; Chinnery PF, 2006. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.  Neurology 66(9):1439-41

Pye D; Kyriakouli DS; Taylor GA; Johnson R; Elstner M; Meunier B; Chrzanowska-Lightowlers ZM; Taylor RW; Turnbull DM; Lightowlers RN, 2006. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.  Nucleic Acids Res 34(13):e95

Betts J; Jaros E; Perry RH; Schaefer AM; Taylor RW; Abdel-All Z; Lightowlers RN; Turnbull DM, 2006. Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.  Neuropathol Appl Neurobiol 32(4):359-73

Greaves LC; Taylor RW, 2006. Mitochondrial DNA mutations in human disease.  IUBMB Life 58(3):143-51

Brown DT; Herbert M; Lamb VK; Chinnery PF; Taylor RW; Lightowlers RN; Craven L; Cree L; Gardner JL; Turnbull DM, 2006. Transmission of mitochondrial DNA disorders: possibilities for the future.  Lancet 368(9529):87-9

Taylor RW, 2005. Gene therapy for the treatment of mitochondrial DNA disorders.  Expert Opin Biol Ther 5(2):183-94

Blakely EL; de Silva R; King A; Schwarzer V; Harrower T; Dawidek G; Turnbull DM; Taylor RW, 2005. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.  Eur J Hum Genet 13(5):623-7

Taylor RW; Turnbull DM, 2005. Mitochondrial DNA mutations in human disease.  Nat Rev Genet 6(5):389-402

Schaefer AM; Blakely EL; Griffiths PG; Turnbull DM; Taylor RW, 2005. Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.  Muscle Nerve 32(1):104-7

Blakely EL; Mitchell AL; Fisher N; Meunier B; Nijtmans LG; Schaefer AM; Jackson MJ; Turnbull DM; Taylor RW, 2005. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.  FEBS J 272(14):3583-92

Barron MJ; Chinnery PF; Howel D; Blakely EL; Schaefer AM; Taylor RW; Turnbull DM, 2005. Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy.  Neuromuscul Disord 15(11):768-74

Walker M; Taylor RW; Turnbull DM, 2005. Mitochondrial diabetes.  Diabet Med 22 Suppl 4:18-20

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

Maniura-Weber K; Taylor RW; Johnson MA; Chrzanowska-Lightowlers Z; Morris AA; Charlton CP; Turnbull DM; Bindoff LA, 2004. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.  Eur J Hum Genet 12(6):509-12

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

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

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

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

Blakely EL; He L; Taylor RW; Chinnery PF; Lightowlers RN; Schaefer AM; Turnbull DM, 2004. Mitochondrial DNA deletion in "identical" twin brothers.  J Med Genet 41(2):e19

Smith PM; Ross GF; Taylor RW; Turnbull DM; Lightowlers RN, 2004. Strategies for treating disorders of the mitochondrial genome.  Biochim Biophys Acta 1659(2-3):232-9

Schaefer AM; Taylor RW; Turnbull DM; Chinnery PF, 2004. The epidemiology of mitochondrial disorders--past, present and future.  Biochim Biophys Acta 1659(2-3):115-20

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

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

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

Chinnery PF; DiMauro S; Shanske S; Schon EA; Zeviani M; Mariotti C; Carrara F; Lombes A; Laforet P; Ogier H; Jaksch M; Lochmüller H; Horvath R; Deschauer M; Thorburn DR; Bindoff LA; Poulton J; Taylor RW; Matthews JN; Turnbull DM, 2004. Risk of developing a mitochondrial DNA deletion disorder.  Lancet 364(9434):592-6

Bidooki S; Jackson MJ; Johnson MA; Chrzanowska-Lightowlers ZM; Taylor RW; Venables G; Lightowlers RN; Turnbull DM; Bindoff LA, 2004. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.  Neuromuscul Disord 14(7):417-20

Taylor RW; Giordano C; Davidson MM; d'Amati G; Bain H; Hayes CM; Leonard H; Barron MJ; Casali C; Santorelli FM; Hirano M; Lightowlers RN; DiMauro S; Turnbull DM, 2003. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy.  J Am Coll Cardiol 41(10):1786-96

Deschauer M; Bamberg C; Claus D; Zierz S; Turnbull DM; Taylor RW, 2003. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.  Neurology 60(8):1357-9

Wardell TM; Ferguson E; Chinnery PF; Borthwick GM; Taylor RW; Jackson G; Craft A; Lightowlers RN; Howell N; Turnbull DM, 2003. Changes in the human mitochondrial genome after treatment of malignant disease.  Mutat Res 525(1-2):19-27

Taylor RW; Jobling MS; Turnbull DM; Chinnery PF, 2003. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.  J Med Genet 40(7):e85

Deschauer M; Kiefer R; Blakely EL; He L; Zierz S; Turnbull DM; Taylor RW, 2003. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.  Neuromuscul Disord 13(7-8):568-72

He L; Luo L; Proctor SJ; Middleton PG; Blakely EL; Taylor RW; Turnbull DM, 2003. Somatic mitochondrial DNA mutations in adult-onset leukaemia.  Leukemia 17(12):2487-91

McGregor A; Smith PM; Ross GF; Taylor RW; Turnbull DM; Lightowlers RN, 2003. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired.  Biochim Biophys Acta 1629(1-3):73-83

Taylor RW; McDonnell MT; Blakely EL; Chinnery PF; Taylor GA; Howell N; Zeviani M; Briem E; Carrara F; Turnbull DM, 2003. Genotypes from patients indicate no paternal mitochondrial DNA contribution.  Ann Neurol 54(4):521-4

Taylor RW; Barron MJ; Borthwick GM; Gospel A; Chinnery PF; Samuels DC; Taylor GA; Plusa SM; Needham SJ; Greaves LC; Kirkwood TB; Turnbull DM, 2003. Mitochondrial DNA mutations in human colonic crypt stem cells.  J Clin Invest 112(9):1351-60

Taylor RW; Morris AA; Hutchinson M; Turnbull DM, 2002. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.  Eur J Hum Genet 10(2):141-4

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

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

He L; Chinnery PF; Durham SE; Blakely EL; Wardell TM; Borthwick GM; Taylor RW; Turnbull DM, 2002. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.  Nucleic Acids Res 30(14):e68

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

Taylor RW; Singh-Kler R; Hayes CM; Smith PE; Turnbull DM, 2001. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.  Ann Neurol 50(1):104-7

Taylor RW; Taylor GA; Durham SE; Turnbull DM, 2001. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations.  Nucleic Acids Res 29(15):E74-4

Taylor RW; Wardell TM; Smith PM; Muratovska A; Murphy MP; Turnbull DM; Lightowlers RN, 2001. An antigenomic strategy for treating heteroplasmic mtDNA disorders.  Adv Drug Deliv Rev 49(1-2):121-5

Turnbull DM; Lightowlers RN; Taylor RW, 2001. Current perspectives in the treatment of mitochondrial DNA diseases.  Funct Neurol 16(4 Suppl):89-96

Taylor RW; Wardell TM; Connolly BA; Turnbull DM; Lightowlers RN, 2001. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates.  Nucleic Acids Res 29(16):3404-12

Schaefer AM; Taylor RW; Turnbull DM, 2001. The mitochondrial genome and mitochondrial muscle disorders.  Curr Opin Pharmacol 1(3):288-93

Chinnery PF; Taylor GA; Howell N; Andrews RM; Morris CM; Taylor RW; McKeith IG; Perry RH; Edwardson JA; Turnbull DM, 2000. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.  Neurology 55(2):302-4

Taylor RW; Wardell TM; Blakely EL; Borthwick GM; Brierley EJ; Turnbull DM, 2000. Analysis of mitochondrial DNA mutations : deletions.  Methods Mol Med 38:245-64

Taylor RW; Andrews RM; Chinnery PF; Turnbull DM, 2000. Analysis of mitochondrial DNA mutations : point mutations.  Methods Mol Med 38:265-77

Chinnery PF; Johnson MA; Wardell TM; Singh-Kler R; Hayes C; Brown DT; Taylor RW; Bindoff LA; Turnbull DM, 2000. The epidemiology of pathogenic mitochondrial DNA mutations.  Ann Neurol 48(2):188-93

Taylor RW; Wardell TM; Lightowlers RN; Turnbull DM, 2000. Molecular basis for treatment of mitochondrial myopathies.  Neurol Sci 21(5 Suppl):S909-12

Birch-Machin MA; Taylor RW; Cochran B; Ackrell BA; Turnbull DM, 2000. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.  Ann Neurol 48(3):330-5

Taylor RW; Chinnery PF; Turnbull DM; Lightowlers RN, 2000. In-vitro genetic modification of mitochondrial function.  Hum Reprod 15 Suppl 2:79-85

Clark KM; Taylor RW; Johnson MA; Chinnery PF; Chrzanowska-Lightowlers ZM; Andrews RM; Nelson IP; Wood NW; Lamont PJ; Hanna MG; Lightowlers RN; Turnbull DM, 1999. An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.  Am J Hum Genet 64(5):1330-9

Chinnery PF; Zwijnenburg PJ; Walker M; Howell N; Taylor RW; Lightowlers RN; Bindoff L; Turnbull DM, 1999. Nonrandom tissue distribution of mutant mtDNA.  Am J Med Genet 85(5):498-501

Chinnery PF; Taylor RW; Diekert K; Lill R; Turnbull DM; Lightowlers RN, 1999. Peptide nucleic acid delivery to human mitochondria.  Gene Ther 6(12):1919-28

Taylor RW; Chinnery PF; Bates MJ; Jackson MJ; Johnson MA; Andrews RM; Turnbull DM, 1998. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis.  Biochem Biophys Res Commun 243(1):47-51

Taylor RW; Taylor GA; Morris CM; Edwardson JM; Turnbull DM, 1998. Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.  Biochem Biophys Res Commun 251(3):883-7

Taylor RW; Chinnery PF; Turnbull DM; Lightowlers RN, 1997. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.  Nat Genet 15(2):212-5

Chinnery PF; Johnson MA; Taylor RW; Lightowlers RN; Turnbull DM, 1997. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.  Ann Neurol 41(3):408-10

Taylor RW; Chinnery PF; Clark KM; Lightowlers RN; Turnbull DM, 1997. Treatment of mitochondrial disease.  J Bioenerg Biomembr 29(2):195-205

Chinnery PF; Johnson MA; Taylor RW; Durward WF; Turnbull DM, 1997. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.  Neurology 49(4):1166-8

Newkirk JE; Taylor RW; Howell N; Bindoff LA; Chinnery PF; Alberti KG; Turnbull DM; Walker M, 1997. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population.  Diabet Med 14(6):457-60

Taylor RW; Birch-Machin MA; Schaefer J; Taylor L; Shakir R; Ackrell BA; Cochran B; Bindoff LA; Jackson MJ; Griffiths P; Turnbull DM, 1996. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.  Ann Neurol 39(2):224-32

Armstrong M; Haldane F; Taylor RW; Humphriss D; Berrish T; Stewart MW; Turnbull DM; Alberti KG; Walker M, 1996. Human insulin receptor substrate-1: variant sequences in familial non-insulin-dependent diabetes mellitus.  Diabet Med 13(2):133-8

Taylor RW; Printz RL; Armstrong M; Granner DK; Alberti KG; Turnbull DM; Walker M, 1996. Variant sequences of the Hexokinase II gene in familial NIDDM.  Diabetologia 39(3):322-8

Taylor RW; Chinnery PF; Haldane F; Morris AA; Bindoff LA; Wilson J; Turnbull DM, 1996. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.  Ann Neurol 40(3):459-62

Morris AA; Taylor RW; Lightowlers RN; Aynsley-Green A; Bartlett K; Turnbull DM, 1995. Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.  Hum Mol Genet 4(4):747-9

Morris AA; Taylor RW; Birch-Machin MA; Jackson MJ; Coulthard MG; Bindoff LA; Welch RJ; Howell N; Turnbull DM, 1995. Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.  Pediatr Nephrol 9(4):407-11

Taylor RW; Birch-Machin MA; Bartlett K; Lowerson SA; Turnbull DM, 1994. The control of mitochondrial oxidations by complex III in rat muscle and liver mitochondria. Implications for our understanding of mitochondrial cytopathies in man.  J Biol Chem 269(5):3523-8

Taylor RW; Birch-Machin MA; Lowerson S; Sherratt HS; West IC; Bartlett K; Turnbull DM, 1993. Defects of oxidative phosphorylation in man.  Biochem Soc Trans 21 ( Pt 3)(3):804-7

Taylor RW; Birch-Machin MA; Bartlett K; Turnbull DM, 1993. Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain.  Biochim Biophys Acta 1181(3):261-5

Taylor RW; Jackson S; Pourfarzam M; Bartlett K; Turnbull DM, 1992. Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.  J Inherit Metab Dis 15(5):727-32

Publication list retrieved from NCBI using ImpactPubs

.