Roles and Responsibilities

Professor of Mitochondrial Pathology, Newcastle University

Head, Newcastle NHS Highly Specialised Mitochondrial Diagnostic Laboratory

Consultant Clinical Scientist, Newcastle upon Tyne Hospitals NHS Foundation Trust

Scientific Director, North East and Yorkshire Genomic Laboratory Hub

Qualifications

BSc (Hons) Biochemistry
PhD

DSc

FRCPath

Memberships

Fellow of the Royal College of Pathologists
British Society of Genetic Medicine
Society for the Study of Inborn Errors of Metabolism

British Inherited Metabolic Disease Group

American Society of Human Genetics

The Pathological Society of Great Britain and Ireland

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 treatment 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. using next generation sequencing strategies including whole exome and whole genome sequencing to identify novel disease genes associated with a range of mitochondrial and neurological pathologies 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 PIs across the Wellcome Centre PIs and collaborate extensively with International research teams.

Funding

The Wellcome Trust
MRC

The Lily Foundation

The Pathology Society

Postgraduate Teaching

MRes Mitochondrial Biology and Medicine (MMB8034)

• Shin C-S, Meng S, Garbis SD, Moradian A, Taylor RW, Sweredoski MJ, Lomenick B, Chan DC. LONP1 and mtHSP70 cooperate to promote mitochondrial protein folding. Nature Communications 2021, 12(1), 265.
• Pula S, Urankar K, Norman A, Pierre G, Langton-Hewer S, Selby V, Mason F, Vijayakumar K, McFarland R, Taylor RW, Majumdar A. A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency. Neuromuscular Disorders 2020, 30(2), 159-164.
• 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.
• Smith ALM, Whitehall JC, Bradshaw C, Gay D, Robertson F, Blain AP, Hudson G, Pyle A, Houghton D, Hunt M, Sampson JN, Stamp C, Mallett G, Amarnath S, Leslie J, Oakley F, Wilson L, Baker A, Russell OM, Johnson R, Richardson CA, Gupta B, McCallum I, McDonald SAC, Kelly S, Mathers JC, Heer R, Taylor RW, Perkins ND, Turnbull DM, Sansom OJ, Greaves LC. Age-associated mitochondrial DNA mutations cause metabolic remodeling that contributes to accelerated intestinal tumorigenesis. Nature Cancer 2020, 1, 976-989.
• Chilibeck CM, Glamuzina EE, Ung CY-J, Blakely EL, Taylor RW, Vincent AL. Albinism and a mitochondrial DNA deletion. Ophthalmic Genetics 2020, 41(3), 295-298.
• VanEyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ. Biallelic Mutations in MTPAP Associated with a Lethal Encephalophy. Neuropediatrics 2020, 51(03), 178-184.
• 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.
• Warren C, McDonald D, Capaldi R, Deehan D, Taylor RW, Filby A, Turnbull DM, Lawless C, Vincent AE. Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry. Scientific Reports 2020, 10(1), 15336.
• 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.
• Alsina D, Lytovchenko O, Schab A, Atanassov I, Schober FA, Jiang M, Koolmeister C, Wedell A, Taylor RW, Wredenberg A, Larsson N-G. FBXL4 deficiency increases mitochondrial removal by autophagy. EMBO Molecular Medicine 2020, e11659.
• Steele H, Gomez-Duran A, Pyle A, Hopton S, Newman J, Stefanetti RJ, Charman SJ, Parikh JD, He L, Viscomi C, Jakovljevic DG, Hollingsworth KG, Robinson AJ, Taylor RW, Bottolo L, Horvath R, Chinnery PF. Metabolic effects of bezafibrate in mitochondrial disease. EMBO Molecular Medicine 2020, 12(3), e11589.
• Haumann S, Boix J, Knuever J, Bieling A, Sanjurjo AV, Elson JL, Blakely EL, Taylor RW, Riet N, Abken H, Kashkar H, Hornig-Do HT, Wiesner RJ. Mitochondrial DNA mutations induce mitochondrial biogenesis and increase the tumorigenic potential of Hodgkin and Reed–Sternberg cells. Carcinogenesis 2020, ePub ahead of Print.
• Poole OV, Horga A, Hardy SA, Bugiardini E, Woodward CE, Hargreaves IP, Merve A, Quinlivan R, Taylor RW, Hanna MG, Pitceathly RDS. Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA^Gly (MT-TG) variant. Neurology: Genetics 2020, 6(2), e413.
• Ng YS, Thompson K, Loher D, Hopton S, Falkous G, Hardy SA, Schaefer AM, Shaunak S, Roberts ME, Lilleker JB, Taylor RW. Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency. Frontiers in Genetics 2020, 11, 24.
• 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.
• Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M. Progressive external ophthalmoplegia due to a recurrent de novo m.15990C>T MT-TP (mt-tRNA^Pro) gene variant. Neuromuscular Disorders 2020, 30(4), 346-350.
• 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.
• Gunning AC, Strucinska K, Munoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. American Journal of Human Genetics 2020, 106(2), 272-279.
• 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.
• Yarnall AJ, Granic A, Waite S, Hollingsworth KG, Warren C, Vincent AE, Turnbull DM, Taylor RW, Dodds RM, Sayer AA. The feasibility of muscle mitochondrial respiratory chain phenotyping across the cognitive spectrum in Parkinson’s disease. Experimental Gerontology 2020, 138, 110997.
• 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.
• 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.
• Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in Medicine 2020, 22, 199–209.
• 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.
• 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.
• Hellebrekers DMEI, Blakely EL, Hendrickx ATM, Hardy SA, Hopton S, Falkous G, de Coo IFM, Smeets HJM, van der Beek NME, Taylor RW. A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. Neuromuscular Disorders 2019, 29(9), 693-697.
• 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.
• Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW. A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia. Journal of Clinical Medicine 2019, 8(6), 789.
• Frazier AE, Vincent AE, Turnbull DM, Thorburn DR, Taylor RW. Assessment of mitochondrial respiratory chain enzymes in cells and tissues. In: Liza A. Pon, Eric A. Schon, ed. Mitochondria, 3rd Edition. London: Academic Press, 2020, pp.121-156.
• 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.
• 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 2019, (ePub ahead of Print).
• 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.
• Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251). Genetics in Medicine 2019, 21, 2163-2164.
• 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.
• Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T. Height as a clinical biomarker of disease burden in adult mitochondrial disease. Journal of Clinical Endocrinology and Metabolism 2019, 104(6), 2057-2066.
• Sommerville EW, Dalla Rosa I, Rosenberg MM, Bruni F, Thompson K, Rocha M, Blakely EL, He L, Falkous G, Schaefer AM, Yu-Wai-Man P, Chinnery PF, Hedstrom L, Spinazzola A, Taylor RW, Gorman GS. Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. Clinical Genetics 2019, 97(2), 276-286.
• 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.
• Handley MT, Reddy K, Wills J, Rosser E, Kamath A, Halachev M, Falkous G, Williams D, Cox P, Meynert A, Raymond ES, Morrison H, Brown S, Allan E, Aligianis I, Jackson AP, Ramsahoye BH, von Kriegsheim A, Taylor RW, Finch AJ, FitzPatrick DR. ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLoS Genetics 2019, 15(3), e1007605.
• 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.
• Erskine D, Reeve AK, Polvikoski T, Schaefer AM, Taylor RW, Lax NZ, El-Agnaf O, Attems J, Gorman GS, Turnbull DM, Ng YS. Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. Acta Neuropathologica 2020, 139, 219-221.
• 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.
• Richter U, Ng KY, Suomi F, Marttinen P, Turunen T, Jackson C, Suomalainen A, Vihinen H, Jokitalo E, Nyman TA, Isokallio MA, Stewart JB, Mancini C, Brusco A, Seneca S, Lombes A, Taylor RW, Battersby BJ. Mitochondrial stress response triggered by defects in protein synthesis quality control. Life Science Alliance 2019, 2(1), e201800219.
• Olahova M, Berti CC, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Human Molecular Genetics 2019, 28(22), 3766-3776.
• Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock K-G, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M. Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human Mutation 2019, 40(10), 1731-1748.
• Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte J-F, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H. NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. Brain: A Journal of Neurology 2019, 142(1), 50-58.
• 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 2019, ePub ahead of Print.
• Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement. Scientific Reports 2019, 9(1), 5108.
• 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.
• Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M. Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports 2019, 26(4), 996-1009.e4.
• 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.
• Lehmann D, Tuppen HAL, Campbell G, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic Acids Research 2019, 47(14), 7430–7443.
• 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.
• 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.
• Simard M-L, Mourier A, Greaves LC, Taylor RW, Stewart JB. A novel histochemistry assay to assess and quantify focal cytochrome c oxidase deficiency. Journal of Pathology 2018, 245(3), 311-323.
• Malicdan MCV, Vilboux T, Ben-Zeev B, Guo J, Eliyahu A, Pode-Shakked B, Dori A, Kakani S, Chandrasekharappa SC, Ferreira CR, Shelestovich N, Marek-Yagel D, Pri-Chen H, Blatt I, Niederhuber JE, He L, Toro C, Taylor RW, Deeken J, Yardeni T, Wallace DC, Gahl WA, Anikster Y. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. Human Mutation 2018, 39(1), 69-79.
• Agnew T, Goldsworthy M, Aguilar C, Morgan A, Simon M, Hilton H, Esapa C, Wu Y, Cater H, Bentley L, Scudamore C, Poulton J, Morten KJ, Thompson K, He L, Brown SDM, Taylor RW, Bowl MR, Cox RD. A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways. Cell Reports 2018, 25(12), 3315-3328.e6.
• 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.
• 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.
• Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MCV. Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism. Clinical Genetics 2018, 93(3), 712–718.
• Xu Z, Lo W-S, Beck DB, Schuch L, Olahova M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau C-F, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Muller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang X-L, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P. Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-Translational Function. American Journal of Human Genetics 2018, 103(1), 100-114.
• 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.
• Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rotig A, Ardissone A, Lombes A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, De Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, De Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne M-C, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Haberle J, Vockley J, Prokisch H, Wortmann S. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective?. Orphanet Journal of Rare Diseases 2018, 13, 120.
• Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. American Journal of Medical Genetics, Part A 2018, 176(5), 1115-1127.
• Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, Taylor R, Niyazov D, Caldecott KW. Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23). Neurology: Genetics 2018, 4(4), e262.
• Bradley P, Waddington CL, Sommerville EW, Hopton S, Pyle A, Champion M, Ohlson M, Siibak T, Chrzanowska-Lightowlers ZMA, Taylor RW, Falkenberg M, Lightowlers RN. Defective mitochondrial protease LonP1 can cause classical mitochondrial disease. Human Molecular Genetics 2018, 27(10), 1743-1753.
• Bacalhau M, Simoes M, Rocha MC, Hardy SA, Vincent AE, Duraes J, Macario MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girao H, Wong LJC, Taylor RW, Grazina M. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. Neuromuscular Disorders 2018, 28(4), 350-360.
• Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG. Expanding the clinical phenotype of IARS2-related mitochondrial disease. BMC Medical Genetics 2018, 19(1), 196.
• King MS, Thompson K, Hopton S, He L, Kunji ERS, Taylor RW, Ortiz-Gonzalez XR. Expanding the phenotype of de novo SLC25A4-linked mitochondrial disease to include mild myopathy. Neurology: Genetics 2018, 4(4), 1-6.
• Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N. Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases. European Journal of Paediatric Neurology 2018, 22(1), 46-55.
• Su T, Grady JP, Afshar S, McDonald SAC, Taylor RW, Turnbull DM, Greaves LC. Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations. The Journal of Pathology 2018, 246(4), 427-432.
• 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.
• Nisar R, Hanson PS, Keane PC, He L, Taylor R, Blain PG, Morris CM. Manganese-Containing Thiocarbamates Cause Free Radical Production and Caspase-Independent Cell Death following Mitochondrial Dysfunction in Neural Cells. Reactive Oxygen Species 2018, 6(18), 428-444.
• Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R. Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease. Genetics in Medicine 2018, 20(10), 1224-1235.
• 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.
• 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.
• Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenege D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Trujillo YP, Galehdari H, Deshpande C, Haack TB, Rozet J-M, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G. Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurology 2018, 75(1), 105-113.
• Kozak I, Oystreck DT, Abu-Amero KK, Nowilaty SR, Alkhalidi H, Elkhamary SM, Mohamed S, Hamad MHA, Salih MA, Blakely EL, Taylor RW, Bosley TM. New observations regarding the retinopathy of genetically confirmed Kearns-Sayre syndrome. Retinal Cases & Brief Reports 2018, 12(4), 349-358.
• 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.
• 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.
• Russell OM, Fruh I, Rai PK, Marcellin D, Doll T, Reeve A, Germain M, Bastien J, Rygiel KA, Cerino R, Sailer AW, Lako M, Taylor RW, Mueller M, Lightowlers RN, Turnbull DM, Helliwell SB. Preferential amplification of a human mitochondrial DNA deletion in vitro and in vivo. Scientific Reports 2018, 8(1), 1799.
• 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.
• 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.
• Smith F, Hopton S, Dallabona C, Gilberti M, Falkous G, Norwood F, Donnini C, Gorman GS, Clark B, Taylor RW, Kulasekararaj AG. Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. Haematologica 2018, 103(12), e564-e566.
• Sithamparanathan S, Rocha MC, Parikh JD, Rygiel KA, Falkous G, Grady JP, Hollingsworth KG, Trenell MI, Taylor RW, Turnbull DM, Gorman GS, Corris PA. Skeletal muscle mitochondrial oxidative phosphorylation function in idiopathic pulmonary arterial hypertension: in vivo and in vitro study. Pulmonary Circulation 2018, 8(2), 1-5.
• Vincent AE, Rosa HS, Pabis K, Lawless C, Chen C, Grünewald A, Rygiel K, Rocha MC, Reeve AK, Falkous G, Perissi V, White K, Davey T, Petrof BJ, Sayer AA, Cooper C, Deehan D, Taylor RW, Turnbull DM, Picard M. Subcellular origin of mitochondrial DNA deletions in human skeletal muscle. Annals of Neurology 2018, 84(2), 289-301.
• 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.
• 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.
• Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson N-G, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM. Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. Molecular Cell 2018, 69(1), 9-23.e6.
• Feichtinger RG, Olahova M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. American Journal of Human Genetics 2017, 101(4), 525-538.
• Reimann J, Lehmann D, Hardy SA, Falkous G, Knowles CVY, Jones RL, Kunz WS, Taylor RW, Kornblum C. Camptocormia and shuffling gait due to a novel MT-TV mutation: Diagnostic pitfalls. Neurology Genetics 2017, 3(3), e147.
• 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.
• Schoeman EM, Van Der Westhuizen FH, Erasmus E, van Dyk E, Knowles CVY, Al-Ali S, Ng W-F, Taylor RW, Newton JL, Elson JL. Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome. BMC Medical Genetics 2017, 18, 29.
• 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.
• 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.
• 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.
• Ng YS, Taylor RW, Schaefer AM. Diabetes Mellitus in Mitochondrial Disease. In: Frontiers in Diabetes. S. Karger AG, 2017, pp.55-68.
• Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Konarikova E, Repp B, Kastenmuller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Glaser D, Taylor RW, Ghezzi D, Mayr JA, Rotig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nature Communications 2017, 8, 15824.
• Vidoni S, Harbour ME, Guerrero-Castillo S, Signes A, Ding S, Fearnley IM, Taylor RW, Tiranti V, Arnold S, Fernandez-Vizarra E, Zeviani M. MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase. Cell Reports 2017, 18(7), 1727-1738.
• Moad M, Hannezo E, Buczacki SJ, Wilson L, ElSherif A, Sims D, Pickard R, Wright NA, Williamson SC, Turnbull DM, Taylor RW, Greaves L, Robson CN, Simons BD, Heer R. Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates. Cell Reports 2017, 20(7), 1609-1622.
• Ait-El-Mkadem S, Dayem-Quere M, Gusic M, Chaussenot A, Bannwarth S, Francois B, Genin EC, Fragaki K, Volker-Touw CLM, Vasnier C, Serre V, van Gassen KLI, Lespinasse F, Richter S, Eisenhofer G, Rouzier C, Mochel F, De Saint-Martin A, Warde MTA, de Sain-van der Velde MGM, Jans JJM, Amiel J, Avsec Z, Mertes C, Haack TB, Strom T, Meitinger T, Bonnen PE, Taylor RW, Gagneur J, van Hasselt PM, Rotig A, Delahodde A, Prokisch H, Fuchs SA, Paquis-Flucklinger V. Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. American Journal of Human Genetics 2017, 100(1), 151-159.
• 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.
• Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M. Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia. Neurology Genetics 2017, 3(5), e181.
• Berglund A-K, Navarrete C, Engqvist MKM, Hoberg E, Szilagyi Z, Taylor RW, Gustafsson CM, Falkenberg M, Clausen AR. Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA. PLoS Genetics 2017, 13(2), e1006628.
• Sommerville EW, Jones RL, Hardy SA, Blakely EL, Pyle A, Schaefer AM, Chinnery PF, Turnbull DM, Gorman GS, Taylor RW. Opening One's Eyes to Mosaicism in Progressive External Ophthalmoplegia. Neurology Genetics 2017, 3(6), e202.
• 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.
• Lehmann D, Kornhuber ME, Clajus C, Alston CL, Wienke A, Deschauer M, Taylor RW, Zierz S. Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions. Neurology Genetics 2017, 2(6), e133.
• Gill JS, Hardy SA, Blakely EL, Hopton S, Nemeth AH, Fratter C, Poulton J, Taylor RW, Downes SM. Pigmentary retinopathy, rod–cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant. British Journal of Ophthalmology 2017, 101(9), 1298-1302.
• Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He LP, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism. Annals of Clinical and Translational Neurology 2017, 4(1), 4-14.
• Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Baric I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Horster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Annals of Neurology 2017, 82(6), 1004-1015.
• Craven L, Alston CL, Taylor RW, Turnbull DM. Recent Advances in Mitochondrial Disease. Annual Review of Genomics and Human Genetics 2017, 18, 257-275.
• Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. Journal of Pathology 2017, 241(2), 236-250.
• 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.
• 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.
• 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, Garcia-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F. A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis. Mitochondrion 2016, 26, 72-80.
• 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. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Journal of Medical Genetics 2016, 53(9), 634-641.
• 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, Van Hove JL, Bahlo M, Mayr JA, Vancoster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. American Journal of Human Genetics 2016, 99(1), 217-227.
• Ehinger JK, Piel S, Ford R, Karlsson M, Sjovall F, Frostner EA, Morota S, Taylor RW, Turnbull DM, Cornell C, Moss SJ, Metzsch C, Hansson MJ, Fliri H, Elmer E. Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency. Nature Communications 2016, 7, 12317.
• Ng YS, Hardy SA, Shrier V, Quaghebeur G, Mole DR, Daniels MJ, Downes SM, Freebody J, Fratter C, Hofer M, Nemeth AH, Poulton J, Taylor RW. Clinical features of the pathogenic m.5540G > A mitochondrial transfer RNA tryptophan gene mutation. Neuromuscular Disorders 2016, 26(10), 702-705.
• 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.
• Kose M, Kagnici M, Canda E, Ucar SK, Diniz G, Unalp A, Yilmaz U, Eraslan C, Ceylaner S, Taylor R, Coker M. Clinical, molecular, radiological investigations in patients with SURF1 mutations and muscle biopsy findings. In: 21st International Congress of the World Muscle Society. 2016, Granada: Elsevier.
• Vincent AE, Rosa H, Rygiel KA, Grady JP, Rocha MC, Taylor RW, Picard M, Turnbull DM. Clonal expansion of mtDNA deletions in skeletal muscle: new insights into mechanisms. In: Mitochondria Research Society/United Mitochondrial Disease Foundation Meeting. 2016, Elsevier BV.
• Rygiel KA, Tuppen HA, Grady JP, Vincent A, Blakely EL, Reeve AK, Taylor RW, Picard M, Miller J, Turnbull DM. Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis. Nucleic Acids Research 2016, 44(11), 5313-5329.
• 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.
• Silwal A, Morris A, Warren D, Vadlamani G, Alston CL, Taylor RW. Cystic Leukoencephalopathy due to NDUFV1 mutation – A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria. Journal of Pediatric Neurology 2016, 14(3), 126-132.
• Vincent AE, Rosa HS, Alston CL, Grady JP, Rygiel KA, Rocha MC, Barresi R, Taylor RW, Turnbull DM. Dysferlin mutations and mitochondrial dysfunction. Neuromuscular Disorders 2016, 26(11), 782-788.
• 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.
• 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. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. Journal of Medical Genetics 2016, 53(2), 127-131.
• Rea G, Ware JS, Homfray T, Till J, Roses-Noguer F, Buchan R, Wilkinson S, Wilk A, Walsh R, John S, Mckee S, Stewart FJ, Murday V, Taylor RW, Baksi AJ, Daubeney P, Prasad S, Barton PJR, Cook SA. Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: Phenotypes linked by truncating variants in NDUFB11. In: British Congenital Cardiac Association Annual Meeting. 2016, Cardiff: BMJ Group.
• 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. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. Neurology: Genetics 2016, 2(2), e59.
• Pisano A, Cerbelli B, Perli E, Pelullo M, Bargelli V, Preziuso C, Mancini M, He LP, Bates MGD, Lucena JR, Della Monica PL, Familiari G, Petrozza V, Nediani C, Taylor RW, d'Amati G, Giordano C. Impaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure. Cardiovascular Pathology 2016, 25(2), 103-112.
• 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.
• Chrysostomou A, Grady JP, Laude A, Taylor RW, Turnbull DM, Lax NZ. Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. Neuropathology and Applied Neurobiology 2016, 42(5), 477-492.
• Wilson IJ, Carling PJ, Alston CL, Floros VI, Pyle A, Hudson G, Sallevelt SCEH, Lamperti C, Carelli V, Bindoff LA, Samuels DC, Wonnapinij P, Zeviani M, Taylor RW, Smeets HJM, Horvath R, Chinnery PF. Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck. Human Molecular Genetics 2016, 25(5), 1031-1041.
• Vincent AE, Grady JP, Rocha MC, Alston CL, Rygiel KA, Barresi R, Taylor RW, Turnbull DM. Mitochondrial dysfunction in myofibrillar myopathy. Neuromuscular Disorders 2016, 26(10), 691-701.
• Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia CW, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JJP, Coon JJ, Pagliarini DJ. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Molecular Cell 2016, 63(4), 621-632.
• Rosa ID, Camara Y, Durigon R, Moss CF, Vidoni S, Akman G, Hunt L, Johnson MA, Grocott S, Wang LY, Thorburn DR, Hirano M, Poulton J, Taylor RW, Elgar G, Marti R, Voshol P, Holt IJ, Spinazzola A. MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. PLoS Genetics 2016, 12(1), e1005779.
• Hardy SA, Blakely EL, Purvis AI, Rocha MC, Ahmed S, Falkous G, Poulton J, Rose MR, O'Mahony O, Bermingham N, Dougan CF, Ng YS, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Pathogenic mtDNA mutations causing mitochondrial myopathy: The need for muscle biopsy. Neurology Genetics 2016, 2(4), e82.
• Van Coster R, Smet J, De Paepe B, Vanlander A, Vantroys E, Alston C, Compton A, Torburn D, Seneca S, Taylor R. Pathogenic mutations in TMEM126B, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families. In: 21st International Congress of the World Muscle Society. 2016, Granada, Spain: Elsevier Ltd.
• 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.
• 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.
• Staufner C, Haack TB, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kuhr 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. Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts. Journal of Inherited Metabolic Disease 2016, 39(1), 3-16.
• 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.
• Mathieu L, Costa AL, Le Bachelier C, Slama A, Lebre AS, Taylor RW, Bastin J, Djouadi F. Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3. Free Radical Biology and Medicine 2016, 96, 190-198.
• 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. Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations. Human Molecular Genetics 2016, 25(5), 903-915.
• 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.
• 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.
• 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, 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.
• Kullar P, Taylor RW, Alston CL, Blakely EL, Ball S, Differ A-M, Fratter C, Sweeney MG, Chinnery PF. The frequency of the m.1555A > G (MTRNR1) variant in UK patients with suspected mitochondrial deafness. Hearing, Balance and Communication 2016, 14(2), 101-102.
• Dombi E, Diot A, Morten K, Carver J, Lodge T, Fratter C, Ng YS, Liao CY, 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. The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology 2016, 86(20), 1921-1923.
• 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.
• Steele HE, Horvath R, Taylor RW. The swinging pendulum of biomarkers in mitochondrial disease: the role of FGF21. Neurology 2016, 87(22).
• de Laat P, Janssen MCH, Alston CL, Taylor RW, Rodenburg RJT, Smeitink JAM. Three families with 'de novo' m.3243A > G mutation. BBA Clinical 2016, 6, 19-24.
• 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.
• 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, Minczukl M. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies. American Journal of Human Genetics 2015, 97(2), 319-328.
• 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. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. Neurogenetics 2015, 16(1), 65-67.
• Rocha MC, Grady JP, Grünewald A, Vincent A, Dobson PF, Taylor RW, Turnbull DM, Rygiel KA. A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis. Scientific Reports 2015, 5, 15037.
• Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M. A novel m.7539C > T point mutation in the mt-tRNA^Asp gene associated with multisystemic mitochondrial disease. Neuromuscular Disorders 2015, 25(1), 81-84.
• McCann BJ, Tuppen HAL, Kusters B, Lammens M, Smeitink JAM, Taylor RW, Rodenburg RJ, Wortmann SB. A novel mitochondrial DNA m.7507A > G mutation is only pathogenic at high levels of heteroplasmy. Neuromuscular Disorders 2015, 25(3), 262-267.
• 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, 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.
• 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.
• Wesolowska M, Gorman GS, Alston CL, Pajak A, Pyle A, He L, Griffin H, Chinnery PF, Miller JAL, Schaefer AM, Taylor RW, Lightowlers RN, Chrzanowska-Lightowlers ZM. Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease. Journal of Neuromuscular Diseases 2015, 2(4), 409-419.
• Clarke M, Hogan V, Buck D, Shen J, Powell C, Speed C, Tiffin P, Sloper J, Taylor R, Nassar M, Joyce K, Beyer F, Thomson R, Vale L, McColl E, Steen N. An external pilot study to test the feasibility of a randomised controlled trial comparing eye muscle surgery against active monitoring for childhood intermittent exotropia [X(T)]. Health Technology Assessment 2015, 19(39).
• 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. Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy. American Journal of Human Genetics 2015, 97(1), 163-169.
• Payne BAI, Gardner K, Blakely EL, Maddison P, Horvath R, Taylor RW, Chinnery PF. Clinical and Pathological Features of Mitochondrial DNA Deletion Disease Following Antiretroviral Treatment. JAMA Neurology 2015, 72(5), 603-605.
• 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. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics 2015, 6(MAR).
• 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.
• 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.
• Schiff M, Haberberger B, Xia CW, Mohsen AW, Goetzman ES, Wang YD, Uppala R, Zhang YX, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD₉ both contribute to disease severity in ACAD₉ deficiency. Human Molecular Genetics 2015, 24(11), 3238-3247.
• 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.
• Nisar R, Hanson PS, He L, Taylor RW, Blain PG, Morris CM. Diquat causes caspase-independent cell death in SH-SY₅Y cells by production of ROS independently of mitochondria. Archives of Toxicology 2015, 89(10), 1811-1825.
• 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.
• 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).
• 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.
• Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain?. Science 2015, 349(6255), 1494-1499.
• 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.
• 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.
• Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HAL, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW. Pathogenic mitochondrial mt-tRNA^Ala variants are uniquely associated with isolated myopathy. European Journal of Human Genetics 2015, 23(12), 1735-1738.
• 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, 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.
• Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S. SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. Journal of Neurology, Neurosurgery and Psychiatry 2015, 86(6), 630-634.
• 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. Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. Frontiers in Genetics 2015, 6, 21.
• 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.
• Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. The investigation and management of metabolic myopathies. Journal of Clinical Pathology 2015, 68(6), 410-417.
• Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Taylor RW, Vila-Sanjurjo A. 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 2015, 25, 17-27.
• 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.
• Rygiel KA, Grady JP, Taylor RW, Tuppen HAL, Turnbull DM. Triple real-time PCR - an improved method to detect a wide spectrum of mitochondrial DNA deletions in single cells. Scientific Reports 2015, 5, 9906.
• Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmuller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Journal of Neurology 2014, 261(11), 2192-2198.
• 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, 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.
• Grady JP, Murphy JL, Blakely EL, Haller RG, Taylor RW, Turnbull DM, Tuppen HAL. Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle. PLoS One 2014, 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. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations. Genetics in Medicine 2014, 16(12), 962-971.
• Sommerville EW, Chinnery PF, Gorman GS, Taylor RW. Adult-onset Mendelian PEO Associated with Mitochondrial Disease. Journal of Neuromuscular Diseases 2014, 1(2), 119-133.
• Di Foggia V, Zhang XY, Licastro D, Gerli MFM, Phadke R, Muntoni F, Mourikis P, Tajbakhsh S, Ellis M, Greaves LC, Taylor RW, Cossu G, Robson LG, Marino S. Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. Journal of Experimental Medicine 2014, 211(13), 2617-2633.
• 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 LP, Taylor RW. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Associated with Neonatal Cholestasis and Liver Failure. Journal of Pediatrics 2014, 164(3), 553-559.e2.
• Uusimaa J, Evans J, Smith C, Butterworth A, Craig K, Ashley N, Liao CY, 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 AAM, Seller A, Fratter C, Taylor RW, Poulton J. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. European Journal of Human Genetics 2014, 22(2), 184-191.
• Greaves LC, Nooteboom M, Elson JL, Tuppen HAL, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TBL, Mathers JC, Turnbull DM. Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing. PLoS Genetics 2014, 10(9), e1004620.
• 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.
• 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.
• Campbell G, Krishnan KJ, Deschauer M, Taylor RW, Turnbull DM. Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle. Human Molecular Genetics 2014, 23(17), 4612-4620.
• Blakely EL, Alston CL, Lecky B, Chakrabarti B, Falkous G, Turnbull DM, Taylor RW, Gorman GS. Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation. Neuromuscular Disorders 2014, 24(6), 533-536.
• Williamson SC, Wilson L, Williamson GA, Greaves L, Tuppen H, Pickard R, Wright NA, Robson CN, Turnbull DM, Taylor RW, Heer R. Finding a niche. The location of human prostate stem cells. In: Annual Meeting of the Society-of-Academic-and-Research-Surgery. 2014, Univ Cambridge, Robinson Coll, Cambridge, ENGLAND: John Wiley & Sons Ltd.
• Rygiel KA, Miller J, Grady JP, Rocha MC, Taylor RW, Turnbull DM. Mitochondrial and inflammatory changes in sporadic inclusion body myositis. Neuropathology and Applied Neurobiology 2014, 41(3), 288-303.
• 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.
• 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 Mitochondria! Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency. American Journal of Human Genetics 2014, 95(3), 315-325.
• 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, Invemizzi 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, de Camaret BM, Chretien D, Munnich A, Menten B, Sante T, Smet J, Regal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rotig A, Haack TB, Minczuk M, Prokisch H. Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy. American Journal of Human Genetics 2014, 95(6), 708-720.
• 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.
• Byerley SK, Blakely EW, Alston CL, Turnbull DM, Stewart JA, McFarland R, Taylor RW, Herbert M. PGD to prevent mitochondrial disease: embryological aspects. In: 13th Annual Preimplantation Genetic Diagnosis International Society (PGDIS) Meeting. 2014, Canterbury, UK: Springer.
• Craven L, Irving L, Alston CL, Watson EL, Byerley S, McFarland R, Stewart JA, Taylor RW, Herbert M, Turnbull DM. Preimplantation genetic diagnosis for mitochondrial DNA disease. In: 13th Annual Preimplantation Genetic Diagnosis International Society (PGDIS) Meeting. 2014, Canterbury, UK: Springer.
• Taylor RW. Preventing the transmission of mitochondrial DNA disease. In: 13th Annual Meeting of the Preimplantation-Genetic-Diagnosis-International-Society. 2014, Canterbury, ENGLAND: Springer Netherlands.
• Grünewald A, Lax NZ, Rocha MC, Reeve AK, Hepplewhite PD, Rygiel KA, Taylor RW, Turnbull DM. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue. Journal of Neuroscience Methods 2014, 232, 143-149.
• Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rotig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet Journal of Rare Diseases 2014, 9, 119.
• 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.
• Perli E, Giordano C, Pisano A, Montanari A, Campese AF, Reyes A, Ghezzi D, Nasca A, Tuppen HA, Orlandi M, Di Micco P, Poser E, Taylor RW, Colotti G, Francisci S, Morea V, Frontali L, Zeviani M, d'Amati G. The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells. EMBO Molecular Medicine 2014, 6(2), 169-182.
• 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.
• Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast. Human Mutation 2013, 34(11), 1501-1509.
• Gorman GS, Pitceathly RDS, Turnbull DM, Taylor RW. RRM2B-Related Mitochondrial Disease. In: Mitochondrial Disorders Caused by Nuclear Genes. New York, NY, USA: Springer New York, 2013, pp.171-182.
• Rodenburg RJT, Schoonderwoerd GC, Tiranti V, Taylor RW, Rotig A, Valente L, Invernizzi F, Chretien D, He L, Backx GPBM, Janssen KJGM, Chinnery PF, Smeets HJ, De Coo IF, van den Heuvel LP. A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. Mitochondrion 2013, 13(1), 36-43.
• Giordano C, Perli E, Orlandi M, Pisano A, Tuppen HA, He L, Ierino R, Petruzziello L, Terzi A, Autore C, Petrozza V, Gallo P, Taylor RW, d'Amati G. Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features. Human Pathology 2013, 44(7), 1262-1270.
• Griffiths PG, Yu-Wai-Man C, Smith FE, Firbank MJ, Guthrie G, Guthrie S, Gorman GS, Taylor RW, Turnbull DM, Blamire AM, Chinnery PF, Yu-Wai-Man P. Chronic progressive external ophthalmoplegia - Disease mechanisms and clinical outcome measures. In: Mitochondrial Medicine 2013. 2013, Newport Beach: Elsevier BV.
• Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N. Clinical and biochemical features associated with BCS1L mutation. Journal of Inherited Metabolic Disease 2013, 36(5), 813-820.
• Bates MG, Hollingsworth KG, Newman J, Jakovljevic DG, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodeling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. European Heart Journal - Cardiovascular Imaging 2013, 14(7), 650-658.
• 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.
• Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He LP, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW. Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA(Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study. Journal of Neuropathology and Experimental Neurology 2013, 72(2), 164-175.
• Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H. ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy. American Journal of Human Genetics 2013, 93(2), 211-223.
• Schaefer AM, Walker M, Turnbull DM, Taylor RW. Endocrine disorders in mitochondrial disease. Molecular and Cellular Endocrinology 2013, 379(1-2), 2-11.
• 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. Extraocular Muscle Atrophy and Central Nervous System Involvement in Chronic Progressive External Ophthalmoplegia. PLoS ONE 2013, 8(9), e75048.
• Kinghorn KJ, Kaliakatsos M, Blakely EL, Taylor RW, Rich P, Clarke A, Omer S. Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations. Journal of Neurology 2013, 260(1), 3-9.
• Whittaker RG, Hall E, Mansoor MK, Taylor RW, Turnbull DM. Incidence of carpal tunnel syndrome in adult patients with mitochondrial disease. Journal of the Peripheral Nervous System 2013, 18(1), 59-61.
• 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.
• Zamzami MA, Duley JA, Price GR, Venter DJ, Yarham JW, Taylor RW, Catley LP, Florin THJ, Marinaki AM, Bowling F. Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects. Journal of Hematology & Oncology 2013, 6, 24.
• Alston CL, Schaefer AM, Raman P, Solaroli N, Krishnan KJ, Blakely EL, He LP, Craig K, Roberts M, Vyas A, Nixon J, Horvath R, Turnbull DM, Karlsson A, Gorman GS, Taylor RW. Late-Onset Respiratory Failure Due to Tk2 Mutations Causing Multiple MtDNA Deletions. Neurology 2013, 81(23), 2051-2053.
• Campbell GR, Reeve A, Ziabreva I, Polvikoski TM, Taylor RW, Reynolds R, Turnbull DM, Mahad DJ. Mitochondrial DNA deletions and depletion within paraspinal muscles. Neuropathology and Applied Neurobiology 2013, 39(4), 377-389.
• Spendiff S, Reza M, Murphy JL, Gorman G, Blakely EL, Taylor RW, Horvath R, Campbell G, Newman J, Lochmüller H, Turnbull DM. Mitochondrial DNA deletions in muscle satellite cells: implications for therapies. Human Molecular Genetics 2013, 22(23), 4739-4747.
• Gavriilidis C, Miwa S, von Zglinicki T, Taylor RW, Young DA. Mitochondrial dysfunction in osteoarthritis is associated with down-regulation of superoxide dismutase 2. Arthritis & Rheumatism 2013, 65(2), 378-387.
• 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.
• Spyropoulos A, Manford M, Horvath R, Alston CL, Yu-Wai-Man P, He LP, Taylor RW, Chinnery PF. Near-Identical Segregation of mtDNA Heteroplasmy in Blood, Muscle, Urinary Epithelium, and Hair Follicles in Twins With Optic Atrophy, Ptosis, and Intractable Epilepsy. JAMA Neurology 2013, 70(12), 1552-1555.
• 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.
• 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.
• Henderson M, De Waele L, Hudson J, Eagle M, Sewry C, Marsh J, Charlton R, He LP, Blakely EL, Horrocks I, Stewart W, Taylor RW, Longman C, Bushby K, Barresi R. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neuropathologica 2013, 125(6), 917-919.
• 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.
• 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.
• Smith PM, Elson JL, Greaves LC, Wortmann SB, Rodenburg RJT, Lightowlers RN, Chrzanowska-Lightowlers ZMA, Taylor RW, Vila-Sanjurjo A. The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential. Human Molecular Genetics 2013, 23(4), 949-969.
• Nesbitt V, Pitceathly RD, Turnbull DM, Taylor RW, Sweeney MG, Mudanohwo EE, Rahman S, Hanna MG, McFarland R. The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management. Journal of Neurology, Neurosurgery and Psychiatry 2013, 84(8), 936-938.
• Blakely EL, Butterworth A, Hadden RDM, Bodi I, He LP, McFarland R, Taylor RW. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscular Disorders 2012, 22(7), 587-591.
• Sitarz KS, Almind GJ, Horvath R, Czermin B, Grønskov K, Pyle A, Taylor RW, Larsen M, Chinnery PF, Yu-Wai-Man P. OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy. Neurology 2012, 79(14), 1515-1517.
• Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW. A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase gamma subunits. Mitochondrion 2012, 12(2), 313-319.
• Yarham JW, McFarland R, Taylor RW, Elson JL. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. Mitochondrion 2012, 12(5), 533-538.
• Yarham JW, Elson JL, Taylor RW, McFarland R. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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, Lochmuller H, Holinski-Feder E, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(2), 174-178.
• Horvath PO, Czermin B, Gulati S, Pyle A, Hassani A, Foley C, Taylor RW, Chinnery PF. Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene. In: Journal of Neurology, Neurosurgery and Psychiatry: Association of British Neurologists Annual Meeting. 2012, Gateshead, UK: BMJ Group.
• Pfeffer G, Blakely EL, Alston CL, Hassani A, Boggild M, Horvath R, Samuels DC, Taylor RW, Chinnery PF. Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(9), 883-886.
• 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.
• Bates MGD, Bourke JP, Giordano C, d'Amati G, Turnbull DM, Taylor RW. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. European Heart Journal 2012, 33(24), 3023-3033.
• Hollingsworth KG, Gorman GS, Trenell MI, McFarland R, Taylor RW, Turnbull DM, Macgowan GA, Blamire AM, Chinnery PF. Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load. Neuromuscular Disorders 2012, 22(7), 592-596.
• Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM. Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study. Journal of Neuropathology and Experimental Neurology 2012, 71(2), 148-161.
• Ratnaike TE, Murphy J, Krishnan KJ, Taylor RW, Turnbull DM. Changes in mitochondrial function over time and with exercise in patients with mitochondrial disease. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics 2012, 20, 650-656.
• Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TBL, Turnbull DM. 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 Genetics 2012, 8(11), e1003082.
• Bates MGD, Hollingsworth KG, Newman J, Jakovljevic DG, Keavney BD, Blamire AM, MacGowan GA, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers. In: Annual Conference of the British Cardiovascular Society (BCS). 2012, Manchester, UK: BMJ Group.
• Murphy JL, Ratnaike TE, Shang ES, Falkous G, Blakely EL, Alston CL, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy. Neuromuscular Disorders 2012, 22(8), 690-698.
• Yu-Wai-Man P, Gorman GS, Taylor RW, Turnbull DM. Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. British Journal of Ophthalmology 2012, 96(12), 1536-1536.
• Krishnan KJ, Nelson G, Romero NB, Ratnaike T, Blakely EL, Ziyadeh-Isleem A, Miller J, Murphy JL, Horvath R, Lochmuller H, Flanigan K, Turnbull DM, Guicheney P, Bitoun M, Taylor RW. DNM2 mutations cause multiple mtDNA deletions in muscle: A novel disorder of mtDNA maintenance. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Bates MG, Hollingsworth KG, Newman J, Jakovljevic D, Dixon BJ, Blamire AM, MacGowan GA, Keavney BD, Chinnery PF, Turnbull DM, Taylor RW, Trenell MI, Gorman GS. Evidence of early cardiac impairment in m.3243A > G mutation carriers. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Piceathly RDS, Smith C, Fratter C, Blakely EL, Alston CL, Deschauer M, Horvath R, Hanna MG, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Expanding the phenotypic and genotypic spectrum of adult RRM2B-related mitochondrial disease. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Taylor R, Howman A, Brogden E, Robinson K, Jones D, Gibson M, Bujkiewicz S, Mitra D, Saran F, Michalski A, Pizer B. Hyperfractionated accelerated radiotherapy (HART) with chemotherapy for M 1-3 medulloblastoma (MB) - A children's cancer and leukaemia group (CCLG)/National Cancer Research Network (NCRN) Study. In: 15th International Symposium on Pediatric Neuro-Oncology (ISPNO). 2012, Toronto, Canada: Oxford University Press.
• Perli E, Giordano C, Tuppen HAL, Montopoli M, Montanari A, Orlandi M, Pisano A, Catanzaro D, Caparrotta L, Musumeci B, Autore C, Morea V, Di Micco P, Campese AF, Leopizzi M, Gallo P, Francisci S, Frontali L, Taylor RW, d'Amati G. Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T > C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy. Human Molecular Genetics 2012, 21(1), 85-100.
• Keohane C, El Sadiq H, Taylor RW, Bermingham N, Ryan A. Late onset Muscle Mitochondrial Disease due to a p.R357P Twinkle mutation in an Irish family. In: 17th International Congress of the World Muscle Society (WMS). 2012, Perth, Australia: Elsevier Ltd.
• Williamson C, Blackwood JK, Greaves L, Wilson L, Pickard RS, Lako M, Robson CN, Turnbull DM, Taylor RW, Heer R. Lineage tracking in situ: Where are the prostate stem cells? What are they doing?. In: Annual Meeting of the Society of Academic and Research Surgery. 2012, Nottingham, UK: John Wiley & Sons Ltd.
• Murphy JL, Ratnaike TE, Shang E, Falkous G, Blakely EL, Alston CL, Hickman K, Chanter H, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Long term endurance training and deconditioning in patients with mitochondrial myopathy. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• 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. Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome. Archives of Neurology 2012, 69(4), 490-499.
• Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM. Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. Brain 2012, 135(6), 1736-1750.
• Greaves LC, Reeve AK, Taylor RW, Turnbull DM. Mitochondrial DNA and disease. Journal of Pathology 2012, 226(2), 274-286.
• Campbell G, Krishnan KJ, Taylor RW, Turnbull DM. Mitochondrial DNA deletions do not have a replicative advantage in human muscle. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Inc.
• Fratter C, Smith C, Evans J, Hodsdon PA, Matten H, Craig K, Taylor RW, Seller A, Poulton J. Mitochondrial DNA depletion syndromes - a 5 year audit of molecular genetic diagnoses. In: British Human Genetics Conference. 2012, Coventry, UK: BMJ Group.
• Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JAM, Wevers RA, Rodenburg RJ, Morava E. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?. European Journal of Medical Genetics 2012, 55(10), 552-556.
• Gavriilidis C, Taylor RW, Young DA. Mitochondrial dysfunction and oxidative damage in osteoarthritis. In: Autumn Meeting of the British Society for Matrix Biology (BSMB). 2012, Newcastle upon Tyne, UK: Wiley-Blackwell Publishing Ltd.
• Bates MG, Nesbitt V, Kirk R, He L, Blakely EL, Alston CL, Brodlie M, Hasan A, Taylor RW, McFarland R. Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: A prospective study. International Journal of Cardiology 2012, 155(2), 305–306.
• Blakely EL, Butterworth A, Hadden RDM, Bodi I, He L, McFarland R, Taylor RW. MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Tuppen HA, Naess K, Kennaway NG, Al-Dosary M, Lesko N, Yarham JW, Bruhn H, Wibom R, Nennesmo I, Weleber RG, Blakely EL, Taylor RW, McFarland R. Mutations in the mitochondrial tRNA(Ser(AGY)) gene are associated with deafness, retinal degeneration, myopathy and epilepsy. European Journal of Human Genetics 2012, 20, 897-904.
• Borras S, Bromley D, Scully P, Coxhead JM, Spiden S, Short J, Robinson J, Huntley D, Curtis A, Taylor R. 'Noonan Spectrum Test' - comprehensive screening for RASopathies. In: European Human Genetics Conference 2012. 2012, Nürnberg, Germany: Nature Publishing Group.
• Alston CL, van der Westhuizen FH, He L, Wassmer E, Davison JE, Falkous G, McFarland R, Taylor RW. Novel SDHA and SDHB mutations as a cause of isolated mitochondria! complex II deficiency. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Read JL, Whittaker RG, Miller N, Clark S, Taylor R, McFarland R, Turnbull D. Prevalence and severity of speech and swallowing difficulties in mitochondrial disease. International Journal Language Communication Disorders 2012, 47(1), 106-111.
• Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He LP, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW. Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of Medical Genetics 2012, 49(9), 569-577.
• Bathgate D, Yu-Wai-Man P, Webb B, Taylor RW, Fowler B, Chinnery PF. Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations. Journal of Neurology, Neurosurgery and Psychiatry 2012, 83(1), 115-115.
• Murphy JL, Newman J, Ratnaike TE, Spendiff S, Falkous G, Blakely EL, Alston CL, Taylor RW, Trenell MI, Gorman GS, Turnbull DM. Resistance training in patients with mitochondrial myopathy. In: United Nations Environment Programme, Mineral Resources Forum. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
• Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM. Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. Brain 2012, 135(1), 62-71.
• Smith C, Evans J, Alston CL, Blakely EL, Seller A, Paceathly RDS, Schaefer AM, Turnbull DM, Taylor RW, Gorman GS, Poulton J, Fratter C. The c.48G > A variant in the mitochondrial DNA maintenance gene, RRM2B, causes adult-onset autosomal dominant PEO via aberrant splicing. In: British Human Genetics Conference. 2012, Coventry, UK: BMJ Group.
• 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.
• 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.
• Payne BAI, Wilson IJ, Yu-Wai-Man P, Coxhead J, Deehan D, Horvath R, Taylor RW, Samuels DC, Santibanez-Koref M, Chinnery PF. Universal heteroplasmy of human mitochondrial DNA. Human Molecular Genetics 2012, 22(2), 384-390.
• Neeve VCM, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombes A, Jardel C, Hirano M, DiMauro S, De Vries M, Smeitink J, Smits BW, de Coo IFM, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmuller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?. Brain 2012, 135(12), 3614-3626.
• Fassone E, Taanman JW, Sweeney MG, Woodward C, Hargreaves IP, Hanna MG, Taylor RW, Duncan AJ, Rahman S. Whole Exome Sequencing Reveals that Subunit Mutations are Prevalent in Complex I Deficient Leigh Syndrome. In: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 2012, Birmingham, UK: Springer.
• Blackwood JK, Williamson SC, Greaves LC, Wilson L, Rigas AC, Sandher R, Pickard RS, Robson CN, Turnbull DM, Taylor RW, Heer R. In situ lineage tracking of human prostatic epithelial stem cell fate reveals a common clonal origin for basal and luminal cells. Journal of Pathology 2011, 225(2), 181-188.
• Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. A Comparative Analysis Approach to Determining the Pathogenicity of Mitochondrial tRNA Mutations. Human Mutation 2011, 32(11), 1319-1325.
• Nesbitt V, Bartlett K, Taylor RW, McFarland R. Congenital lactic acidosis and mitochondrial disease - when to suspect and how to manage. Journal of Neonatal and Perinatal Medicine 2011, 4(3), 179-187.
• Fratter C, Raman P, Alston C, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. Dominant and recessive RRM2B mutations cause familial PEO and multiple mtDNA deletions in muscle. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• Vlachantoni D, Bramall AN, Murphy MP, Taylor RW, Shu XH, Tulloch B, Van Veen T, Turnbull DM, McInnes RR, Wright AF. Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration. Human Molecular Genetics 2011, 20(2), 322-335.
• Murphy JL, Shang E, Taivassalo T, Haller RG, Taylor RW, Turnbull DM. Exercise training in patients with mitochondrial myopathy: the analysis of COX-intermediate fibres. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• 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.
• Rygiel K, Miller J, Taylor RW, Turnbull DM. Mitochondrial abnormalities in inclusion body myositis. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• 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.
• Evans J, Uusimaa J, Smith C, Butterworth A, Craig K, Ashley N, Liao C, Kelly D, Samyn M, Rahman S, Stewart H, Morris AMM, Seller A, Fratter C, Taylor RW, Poulton J. Mitochondrial DNA depletion syndrome due to mutations in the MPV17 gene. In: Journal of Medical Genetics: British Human Genetics Conference. 2011, Warwick, Coventry: BMJ Group.
• Spendiff S, Horvath R, Lochmüller H, Reza M, Murphy JL, Taylor RW, Turnbull DM. Mitochondrial DNA mutations in satellite cells. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• Nesbitt V, Whittaker R, Turnbull D, McFarland R, Taylor R. mtDNA disease for the neurologist. Future Neurology 2011, 6(1), 63-80.
• Thelwall PE, Taylor R, Marshall SM. Non-invasive Investigation of Kidney Disease in Type 1 Diabetes by Magnetic Resonance Imaging. Diabetologia 2011, 54(9), 2421-2429.
• 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.
• Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. Biochimica et Biophysica Acta: Molecular Basis of Disease 2011, 1812(3), 321-325.
• Hallsworth K, Fattakhova G, Hollingsworth K, Thoma C, Moore S, Taylor R, Day CP, Trenell MI. Resistance exercise improves liver lipid, fat oxidation and glucose control in adults with non-alchoholic fatty liver disease independent of weight loss. In: Journal of Hepatology: 46th Annual Meeting of the European Association for the Study of the Liver (EASL). 2011, Berlin, Germany: Elsevier BV.
• Taylor RW, Swalwell H, Kirby DM, Blakely EL, Mitchell A, Salemi R, Sugiana C, Compton AG, Tucker EJ, Ke BX, Lamont PJ, Turnbull DM, McFarland R, Thorburn DR. Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. In: Neuromuscular Disorders: United Kingdom Neuromuscular Translational Research Conference. 2011, London, UK: Elsevier Ltd.
• 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.
• Fratter C, Raman P, Alston CL, Blakely EL, Craig K, Smith C, Evans J, Seller A, Czermin B, Hanna MG, Poulton J, Brierley C, Staunton TG, Turnpenny PD, Schaefer AM, Chinnery PF, Horvath R, Turnbull DM, Gorman GS, Taylor RW. RRM2B mutations are frequent in familial peo with multiple mtDNA deletions. Neurology 2011, 76(23), 2032-2034.
• 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.
• Savelev S, Perry J, Bourke S, Taylor R, Fisher A, Corris P, Jary H, Petrie M, De Soyza A. Volatile biomarkers of Pseudomonas aeruginosa in cystic fibrosis and non cystic fibrosis bronchiectasis. Letters in Applied Microbiology 2011, 52(6), 610-613.
• Ratnaike TE, Krishnan KJ, Taylor RW, Turnbull DM. Why does mitochondrial disease progress? From molecular genetics to patient phenotype. In: UK Neuromuscular Translational Research Conference. 2011, London: Neuromuscular Disorders: Pergamon.
• McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurology 2010, 9(8), 829-840.
• Alston CL, Morak M, Reid C, Hargreaves IP, Pope SAS, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy. Neuromuscular Disorders 2010, 20(2), 131-135.
• Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW. A novel mitochondrial tRNA gene mutation causing PEO present at very low levels in skeletal muscle: implications for molecular diagnosis. In: Neuromuscular Disorders: 15th International Congress of the World Muscle Society. 2010, Kumamoto, Japan: Elsevier Ltd.
• Alston CL, Lowe J, Turnbull DM, Maddison P, Taylor RW. A novel mitochondrial tRNA(Glu) (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. Journal of the Neurological Sciences 2010, 298(1-2), 140-144.
• Nooteboom M, Johnson R, Taylor RW, Wright NA, Lightowlers RN, Kirkwood TBL, Mathers JC, Turnbull DM, Greaves LC. Age-associated mitochondrial DNA mutations lead to small but significant changes in cell proliferation and apoptosis in human colonic crypts. Aging Cell 2010, 9(1), 96-99.
• 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.
• Greaves L, Barron M, Plusa S, Kirkwood T, Mathers J, Taylor R, Turnbull D. Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts. Experimental Gerontology 2010, 45(7-8), 573-579.
• Greaves LC, Barron MJ, Plusa S, Kirkwood TB, Mathers JC, Taylor RW, Turnbull DM. Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts. In: Experimental Gerontology: International Conference on Mitochondria in Aging and Age-related Disease. 2010, Les Diablerets, Switzerland: Elsevier Inc.
• Pohjoismaki JLO, Goffart S, Taylor RW, Turnbull DM, Suomalainen A, Jacobs HT, Karhunen PJ. Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number. PLoS ONE 2010, 5(5), e10426.
• Sanaker PS, Toompuu M, Hogan VE, He LP, Tzoulis C, Chrzanowska-Lightowlers ZMA, Taylor RW, Bindoff LA. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochimica et Biophysica Acta: Molecular Basis of Disease 2010, 1802(6), 539-544.
• Jakovljevic DG, Papakonstantinou L, Taylor R, MacGowan G, Trenell MI. Every day physical activity protects against the age related decline in aerobic function but not cardiac pumping capability in normoglycemic women. In: Diabetes and Cardiovascular Disease EASD Study Group. 2010, Belgrade, Serbia.
• Spendiff S, Horvath R, Murphy JL, Taylor RW, Reza M, Lochmuller H, Turnbull DM. Finding the missing gap - mitochondrial DNA deletions in muscle stem cells. In: United Kingdom Neuromuscular Translational Research Conference 2010. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• Zambonin J, Engeham S, Campbell GR, Ziabreva I, Beadle NE, Taylor RW, Mahad DJ. Identification and investigation of mitochondria lacking cytochrome c oxidase activity in axons. Journal of Neuroscience Methods 2010, 192(1), 115-120.
• Horvath R, Kemp JP, Tuppen HAL, Hudson G, Pyle A, Holinski-Feder E, Abicht A, Czermin B, Walter MC, Gunther-Scholz A, Smith PM, McFarland R, Chrzanowska-Lightowlers ZMA, Lightowlers RN, Lochmuller H, Taylor RW, Chinnery PF. Infantile reversible COX deficiency myopathy caused by the m.14674T > C mutation in mt-tRNA(Glu) in a German family. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford, UK: Neuromuscular Disorders, Elsevier.
• Giordano C, Pichiorri F, Blakely EL, Perli E, Orlandi M, Gallo P, Taylor RW, Inghilleri M, d'Amati G. Isolated Distal Myopathy of the Upper Limbs Associated With Mitochondrial DNA Depletion and Polymerase gamma Mutations. Archives of Neurology 2010, 67(9), 1144-1146.
• Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferreio I, He L, 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. In: Neuromuscular Disorders: 15th International Congress of the World Muscle Society. 2010, Kumamoto, Japan: Elsevier Ltd.
• 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.
• Greaves LC, Yu-Wai-Man P, Blakely EL, Krishnan KJ, Beadle NE, Kerin J, Barron MJ, Griffiths PG, Dickinson AJ, Turnbull DM, Taylor RW. Mitochondrial DNA Defects and Selective Extraocular Muscle Involvement in CPEO. Investigative Ophthalmology & Visual Science 2010, 51(7), 3340-3346.
• Tuppen HAL, Blakely EL, Turnbull DM, Taylor RW. Mitochondrial DNA mutations and human disease. Biochimica et Biophysica Acta: Bioenergetics 2010, 1797(2), 113-128.
• Young TM, Blakely EL, Swalwell H, Carter JE, Kartsounis LD, O'Donovan DG, Turnbull DM, Taylor RW, de Silva RN. Mitochondrial Transfer RNA(Phe) Mutation Associated With a Progressive Neurodegenerative Disorder Characterized by Psychiatric Disturbance, Dementia, and Akinesia- Rigidity. Archives of Neurology 2010, 67(11), 1399-1402.
• Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdisciplinary Reviews: RNA 2010, 1(2), 304-324.
• 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.
• Smith F, Cullup T, Howard E, Turner DJ, Coffey A, Deshpande C, Champion M, McFarland R, Horvath R, Lightowlers ZMAC, Taylor RW, Abbs S, Yau SC. Next generation genetic diagnosis of metabolic disorders. In: Journal of Medical Genetics: British Human Genetics Conference. 2010, Warwick, UK: BMJ Group.
• Panicker J, Taylor RW, Blakely EL, Wilson M. Novel mitrochondrial trna mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness. In: Journal of Neurology, Neurosurgery and Psychiatry: Annual Meeting of the Association of British Neurologists. 2010, Bournemouth, UK: BMJ Group.
• Craven L, Tuppen HA, Greggains GD, Harbottle SJ, Murphy JL, Cree LM, Murdoch AP, Chinnery PF, Taylor RW, Lightowlers RN, Herbert M, Turnbull DM. Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease. Nature 2010, 465(7294), 82-85.
• McHugh JC, Lonergan R, Howley R, O'Rourke K, Taylor RW, Farrell M, Hutchinson M, Connolly S. Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation. Muscle & Nerve 2010, 41(2), 265-269.
• Yu Wai Man P, Lai-Cheong J, Borthwick GM, He LP, Taylor GA, Greaves LC, Taylor RW, Griffiths PG, Turnbull DM. Somatic Mitochondrial DNA Deletions Accumulate to High Levels in Aging Human Extraocular Muscles. Investigative Ophthalmology & Visual Science 2010, 51(7), 3347-3353.
• Gabrielides C, Scott JL, Taylor RW, Young DA. Superoxide dismutase 2 downregulation and mitochondria respiration in osteoarthritis. In: Osteoarthritis and Cartilage: World Congress of the OsteoArthritis Research Society International. 2010, Brussels, Belgium: Elsevier Ltd.
• Scott JL, Gabrielides C, Davidson RK, Swingler TE, Clark IM, Wallis GA, Boot-Handford RP, Kirkwood TBL, Talyor RW, Young DA. Superoxide dismutase downregulation in osteoarthritis progression and end-stage disease. Annals of the Rheumatic Diseases 2010, 69(8), 1502-1510.
• Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology 2010, 74(20), 1619-1626.
• Blackwood JK, Whittaker RG, Blakely EL, Alston CL, Turnbull DM, Taylor RW. The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells. Biochemical and Biophysical Research Communications 2010, 393(4), 740-745.
• Gosal D, Ealing J, Sherrington C, Taylor RW, Alston C, DuPlessis D, Roberts M. The m.3291 T > C mtDNA mutation causes Ekbom's syndrome: expanding the clinical and genetic phenotype. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• 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.
• 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.
• 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. The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations. Ophthalmology 2010, 117(8), 1538-1546.
• Neeve VCM, Van den Bosch B, Van Goethem G, Bindoff L, Smeets B, Lombes A, Hirano M, DiMauro S, De Vries M, Smeitink J, Czermin B, Holinski-Feder E, Hudson G, Turnbull DM, Taylor RW, Chinnery PF, Horvath R. What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?. In: United Kingdom Neuromuscular Translational Research Conference. 2010, Oxford: Neuromuscular Disorders, Elsevier.
• Fellous TG, McDonald SAC, Burkert J, Humphries A, Islam S, De-Alwis NMW, Gutierrez-Gonzalez L, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, El-Bahrawy M, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Day CP, Wright NA, Alison MR. A Methodological Approach to Tracing Cell Lineage in Human Epithelial Tissues. Stem Cells 2009, 27(6), 1410-1420.
• Blakely EL, Trip SA, Swalwell H, He LP, Wren DR, Rich P, Turnbull DM, Omer SE, Taylor RW. A New Mitochondrial Transfer RNA(Pro) Gene Mutation Associated With Myoclonic Epilepsy With Ragged-Red Fibers and Other Neurological Features. Archives of Neurology 2009, 66(3), 399-402.
• Alston C, Reid C, Horvath R, Mundy H, Taylor RW. A novel heteroplasmic mitochondrial MT-ND5 frameshift mutation causing isolated paediatric complex I deficiency. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
• Abu-Amero K, Al-Dhalaan H, Bohlega S, Hellani A, Taylor R. A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: A case report. Journal of Medical Case Reports 2009, 3(1), 77.
• Betts-Henderson J, Jaros E, Krishnan KJ, Perry RH, Reeve AK, Schaefer AM, Taylor RW, Turnbull DM. Alpha-synuclein pathology and Parkinsonism associated with POLG1 mutations and multiple mitochondrial DNA deletions. Neuropathology and Applied Neurobiology 2009, 35(1), 120-124.
• Fratter C, Gorman G, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Lecky B, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Autosomal dominant Progressive External Ophthalmoplegia (adPEO) due to mutations in the PEO1 gene: A clinical, histochemical and molecular survey of 33 patients. Neuromuscular Disorders 2009, 19(8-9), 562-562.
• Saha S, Rich P, Turnbull D, Taylor R, Omer S. Bilateral hypertrophic olivary degeneration on MRI in two patients with POLG1 mutations. In: European Journal of Neurology: 13th Congress of the European Federation of Neurological Societies. 2009, Florence, Italy: Wiley-Blackwell Publishing Ltd.
• 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.
• Bandelt HJ, Salas A, Taylor RW, Yao YG. Exaggerated status of novel and pathogenic mtDNA sequence variants due to inadequate database searches. Human Mutation 2009, 30(2), 191-196.
• Giordano C, Powell H, Leopizzi M, de Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G. Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. Neurology 2009, 72(12), 1103-1105.
• Sanaker PS, Toompuu M, Chrzanowska-Lightowlers Z, He L, Hogan V, Taylor RW, Tzoulis C, Bindoff LA. G.P.11.01: RNA processing differences explain tissue specificity in exercise intolerance myopathy due to ISCU intronic mutation. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
• Fellous TG, Islam S, Tadrous PJ, Elia G, Kocher HM, Bhattacharya S, Mears L, Turnbull DM, Taylor RW, Greaves LC, Chinnery PF, Taylor G, McDonald SAC, Wright NA, Alison MR. Locating the Stem Cell Niche and Tracing Hepatocyte Lineages in Human Liver. Hepatology 2009, 49(5), 1655-1663.
• Sebastiani M, Giordano C, Travaglini C, Perli E, Della Monica PL, Musumeci F, Gallo P, Taylor RW, d'Amati G. Mitogen-Activated Protein Kinases and Regulation of Mitochondrial Biogenesis in Human Cardiomyopathies. In: Laboratory Investigation: 98th Annual Meeting of the United States and Canadian Academy of Pathology. 2009, Boston, Massachusetts: Nature Publishing Group.
• Sebastiani M, Giordano C, Travaglini C, Perli E, Della Monica PL, Musumeci F, Gallo P, Taylor RW, d'Amati G. Mitogen-Activated Protein Kinases and Regulation of Mitochondrial Biogenesis in Human Cardiomyopathies. In: Modern Pathology: 98th Annual Meeting of the United States and Canadian Academy of Pathology. 2009, Boston, Massachusetts: Nature Publishing Group.
• Greaves LC, Mathers JC, Taylor RW, Turnbull DM. Modelling mitochondrial DNA mutations in bacterial cytochrome c oxidase: Link to colon cancer?. Proceedings of the National Academy of Sciences of the United States of America 2009, 106(22), E57-E57.
• 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.
• 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.
• Al-Dosary M, Whittaker R, Hood J, McFarland R, Goodship JA, Turnbull DM, Taylor RW. Neuromuscular disease presentation with three genetic defects involving two genomes: The characterisation of a novel mitochondrial tRNA mutation exhibiting skewed segregation. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
• Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?. Human Mutation 2009, 30(11), E984-E992.
• O'Rourke K, Buddles MR, Farrell M, Howley R, Sukuraman S, Connolly S, Turnbull DM, Hutchinson M, Taylor RW. Phenotypic Diversiry Associated with the Mitochondrial m.8313G > A Point Mutation. Muscle & Nerve 2009, 40(4), 648-651.
• McFarland R, Tuppen H, He L, Blakely EL, Morris AAM, Clarke M, Jones S, Devlin AM, Taylor RW. Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle. In: Neuromuscular Disorders: 14th International Congress of the World Muscle Society. 2009, Geneva, Switzerland: Elsevier Ltd.
• Wright KP, Tuppen HAL, Blakely EL, McFarland R, Brown GK, Taylor RW, Morris AAM. The Biochemical and Molecular Genetic Aetiology of Leigh Syndrome. In: Molecular Genetics and Metabolism: 11th International Conference of Inborn Errors of Metabolism. 2009, San Diego, CA, USA: Academic Press.
• Reeve AK, Krishnan KJ, Taylor G, Elson JL, Bender A, Taylor RW, Morris CM, Turnbull DM. The low abundance of clonally expanded mitochondrial DNA point mutations in aged substantia nigra neurons. Aging Cell 2009, 8(4), 496-498.
• Yapici Z, Benbir G, Saltik S, He L, Brown GK, Taylor RW, Dincer A, Naidu S, Yalcinkaya C. Two Cases with Progressive Cystic Leukoencephalopathy. Neuropediatrics 2009, 40(1), 47-51.
• 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.
• 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. OPA1 in multiple mitochondrial DNA deletion disorders. Neurology 2008, 71(22), 1829-1831.
• Taylor RW, Greaves LC, Krishnan KJ, Kerin J, Barron MJ, Blakely EL, Griffiths PG, Turnbull DM. A histochemical and molecular genetic investigation of the selective, extraocular muscle involvement in chronic progressive external ophthalmoplegia. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, Newcastle upon Tyne, UK: Elsevier Ltd.
• Swalwell H, Blakely E, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Burns D, Turnbull DM, Haller R, Davidson M, Taylor RW. A homoplasmic mtDNA variant can influence the phenotype of the pathogenic m.7472Cins MTTS1 mutation: Are two mutations better than one?. European Journal of Human Genetics 2008, 16(10), 1265-1274.
• Tam EWY, Feigenbaum A, Addis JBL, Blaser S, MacKay N, Al-Dosary M, Taylor RW, Ackerley C, Cameron JM, Robinson BH. A Novel Mitochondrial DNA Mutation in COX1 Leads to Strokes, Seizures, and Lactic Acidosis. Neuropediatrics 2008, 39(6), 328-334.
• Downham E, Winterthun S, Nakkestad HL, Hirth A, Halvorsen T, Taylor RW, Bindoff LA. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscular Disorders 2008, 18(4), 310-314.
• Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS. Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma. Journal of Neuropathology and Experimental Neurology 2008, 67(9), 857-866.
• Woodward C, Sweeney MG, Duncan AJ, Stern E, Al-Dosary M, Taylor RW, Hanna MG, Davis MB, Rahman S. Comparative human mitochondrial genome analysis using the Affymetrix MitoChip and conventional cycle sequencing. In: Journal of Medical Genetics: British Human Genetics Conference. 2008, York, UK: BMJ Group.
• Duncan AJ, Sweeney MG, Stern E, Taylor R, Woodward C, Davis MB, Hanna MG, Rahman S. Comparative human mitochondrial genome analysis using the affymetrix Mitochip v2 and conventional cycle sequencing. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, Newcastle upon Tyne, UK: Elsevier.
• Savelev S, De Soyza A, Nicholson A, Perry J, Petrie M, Taylor R, Bourke SJ, Fisher AJ, Corris PA. Developing a non-invasive test for pseudomonas detection: towards an electronic nose. Thorax 2008, 63(Supplement 7), A37-A38 no. S81.
• 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.
• Murphy JL, Charlton R, Barresi R, Bushby KM, Taylor RW, Turnbull DM. G.P.10.09 Mitochondrial dysfunction in dysferlinopathy. In: Neuromuscular Disorders: 13th International Congress of the World Muscle Society. 2008, Newcastle upon Tyne, UK: Elsevier.
• Betts J, Barron MJ, Needham SJ, Schaefer AM, Taylor RW, Turnbull DM. Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation. Neurology 2008, 70(15), 1290-1292.
• Duncan AJ, Sweeney MG, Stern E, Taylor RW, Woodward C, Davis MB, Hanna MG, Rahman S. Identification of novel and recurrent mitochondrial DNA mutations in paediatric onset mitochondrial disease using the mitochip resequencing array. In: Journal of Inherited Metabolic Disease: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. 2008, Lisbon, Portugal: Springer Netherlands.
• McDonald SAC, Greaves LC, Gutierrez-Gonzalez L, Rodriguez-Justo M, Deheragoda M, Leedham SJ, Taylor RW, Lee CY, Preston SL, Lovell M, Hunt T, Elia G, Oukrif D, Harrison R, Novelli MR, Mitchell I, Stoker DL, Turnbull DM, Jankowski JAZ, Wright NA. Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells. Gastroenterology 2008, 134(2), 500-510.
• Schaefer AM, McFarland R, Chinnery PF, Taylor RW, Turnbull DM. Mitochondrial DNA Disease Prevalence: Still Underrecognized? Reply. Annals of Neurology 2008, 64(4), 471-472.
• 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.
• Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, Donovan OD, Findlay F, Taylor RW, De Silva R, Chinnery PF. Mutations in POLG1 can present with autosomal recessive axonal Charcot-Marie-Tooth disease. Archives of Neurology 2008, 65(1), 133-136.
• Blakely E, He L, Gardner JL, Hudson G, Walter J, Hughes I, Turnbull DM, Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscular Disorders 2008, 18(7), 557-560.
• 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.
• 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.
• Harrower T, Stewart JD, Hudson G, Houlden H, Warner G, O'Donovan DG, Findlay LJ, Taylor RW, De Silva R, Chinnery PF. POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. Archives of Neurology 2008, 65(1), 133-136.
• 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.
• 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.
• Kyriakouli D, Boesch P, Taylor R, Lightowlers R. Progress and prospects: Gene therapy for mitochondrial DNA disease. Gene Therapy 2008, 15(14), 1017-1023.
• Schaefer AM, Whittaker R, McFarland R, Chinnery PF, Taylor RW, Turnbull DM. Reply. Annals of Neurology 2008, 64(4), 471-472.
• Murphy JL, Blakely EL, Schaefer AM, He L, Wyrick P, Haller RG, Taylor RW, Turnbull DM, Taivassalo T. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008, 131(11), 2832-2840.
• 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.
• 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.
• Taylor R, Fratter C, Sweeney MG, Poulton J, Brown GK, Rahman S, McFarland R, Seller A, Davis MB, Hanna MG, Turnbull DM. The NCG Service for Rare Mitochondrial Disorders of Adults and Children: a clinical and molecular genetics perspective. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Alston C, Whittaker RG, Blakely EL, Blackwood JK, McFarland R, Turnbull DM, Taylor RW. Urinary epithelia as an indicator of m.3243A>G heteroplasmy levels and predictor of clinical outcome. In: British Human Genetics Conference 2008. 2008, University of York, UK: Journal of Medical Genetics: BMJ Group.
• Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, Wanrooij S, Spelbrink JN, Lightowlers RN, Turnbull DM. What causes mitochondrial DNA deletions in human cells?. Nature Genetics 2008, 40(3), 275-279.
• Swalwell H, Blakely EL, Davidson MM, Sutton R, Tonska K, Elstner M, He L, Taivassalo T, Tumbull DM, Haller RG, Taylor RW. A homoplasmic mitochondrial DNA variant (m.7472A > C) influences the phenotype of the pathogenic m.7472Cins MTTS1 mutation. In: JOURNAL OF MEDICAL GENETICS. 2007, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND: B M J PUBLISHING GROUP.
• 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.
• Krishnan KJ, Bender A, Taylor RW, Turnbull DM. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Analytical Biochemistry 2007, 370(1), 127-129.
• Trip SA, Blakely EL, Swalwell H, Wren DR, Turnbull DM, Omer SM, Taylor RW. A NOVEL MITOCHONDRIAL TRNAPRO MUTATION ASSOCIATED WITH MYOCLONIC EPILEPSY WITH RAGGED RED FIBRES AND OTHER NEUROLOGICAL FEATURES. In: ABN Spring Scientific Meeting. 2007, Homerton College, Cambridge, UK: BMJ Publishing Group.
• Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Blakely EL, He L, Turnbull DM, Taylor RW, Tajsharghi H. An unusual case of congenital muscular dystrophy with normal serum CK level, external ophtalmoplegia, and white matter changes on brain MRI. European Journal of Paediatric Neurology 2007, 11(6), 381-384.
• Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical Assays of Respiratory Chain Complex Activity. Methods in Cell Biology 2007, 80, 93-119.
• Pyle A, Taylor RW, Durham SE, Deschauer M, Schaefer AM, Samuels DC, Chinnery PF. Depletion of mitochondrial DNA in leucocytes harbouring the 3243A→G mtDNA mutation. Journal of Medical Genetics 2007, 44(1), 69-74.
• Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?. Diabetes Care 2007, 30(9), 2238-2239.
• Whittaker RG, Schaefer AM, Taylor RW, Turnbull DM. Differential diagnosis in ptosis and ophthalmoplegia: Mitochondrial disease or myasthenia? [11]. Journal of Neurology 2007, 254(8), 1138-1139.
• Gardner JL, Craven L, Turnbull DM, Taylor RW. Experimental Strategies Towards Treating Mitochondrial DNA Disorders. Bioscience Reports 2007, 27(1-3), 139-150.
• Morris AAM, Appleton RE, Power B, Isherwood DM, Abernethy LJ, Taylor RW, Turnbull DM, Verhoeven NM, Salomons GS, Jakobs C. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. Journal of Inherited Metabolic Disease 2007, 30(1), 100-100.
• 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.
• Sebastiani M, Giordano C, Travaglini C, Zani M, Nediani C, Borchi E, Mancini M, Taylor R, Gallo P, D'Amati G. Induction of mitochondrial biogenesis is a maladaptive mechanism in cardiac remodeling. Virchows Archiv: an international journal of pathology 2007, 451(2), 483-483.
• Sebastiani M, Giordano C, Nediani C, Travaglini C, Borchi E, Zani M, Feccia M, Mancini M, Petrozza V, Cossarizza A, Gallo P, Taylor RW, d'Amati G. Induction of Mitochondrial Biogenesis Is a Maladaptive Mechanism in Mitochondrial Cardiomyopathies. Journal of the American College of Cardiology 2007, 50(14), 1362-1369.
• Taylor RW, Chinnery PF, Turnbull DM. Investigation of metabolic myopathies. Handbook of Clinical Neurology 2007, 86, 193-204.
• Phoenix C, Taylor GA, Hartley J, Nixon H, Ince PG, Shaw PJ, Turnbull DM, Taylor RW. Investigation of the mitochondrial genome in patients with atypical motor neuron disease. Journal of Neurology 2007, 254(4), 482-487.
• Taivassalo T, Gardner J, Taylor RW, Schaefer A, Haller R, Taylor D. M.P.3.08 Resistance exercise training in mitochondrial myopathy due to single, large-scale deletions: Implications for therapy. In: 12th International Congress of the World Muscle Society. 2007, Giardini Naxos, Italy: Neuromuscular Disorders, Elsevier.
• Deschauer M, Tennant S, Rokicka A, He L, Kraya T, Turnbull DM, Zierz S, Taylor RW. MELAS associated with mutations in the POLG1 gene. Neurology 2007, 68(20), 1741-1742.
• McFarland R, Taylor RW, Turnbull DM. Mitochondrial disease - Its impact, etiology, and pathology. In: Justin St. John, Gerald Schatten, ed. The Mitochondrion in the Germline and Early Development. London: Elsevier, 2007, pp.113-155.
• McFarland R, Taylor RW, Turnbull DM. Mitochondrial Disease-Its Impact, Etiology, and Pathology. Current Topics in Developmental Biology 2007, 77, 113-155.
• Taylor RW, Turnbull DM. Mitochondrial DNA Transcription: Regulating the Power Supply. Cell 2007, 130(2), 211-213.
• Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the Linker Region of the Polymerase {gamma}-1 (POLG1) Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism. Archives of Neurology 2007, 64(4), 553-557.
• Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, Griffiths P, Burn DJ, Turnbull DM, Chinnery PF. Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Archives of Neurology 2007, 64(4), 553-557.
• Arasaradnam RP, Greaves LC, Commane D, Greetham H, Bradburn M, Taylor RW, Turnbull DM, Mathers JC. Novel preliminary findings of mitochondrial DNA mutations in colonic crypts of patients with diverticular disease (the Boricc study). Gut 2007, 56, A45-A45.
• Stewart J, Harrower T, Taylor RW, Hudson G, Houlden H, Warner G, De Silva R, O'Donovan D, Findlay L, Chinnery PF. Nuclear gene mutations impacting mitochondrial genome maintenance. In: Journal of Medical Genetics: British Human Genetics Conference. 2007, York, UK: BMJ Group.
• 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.
• 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.
• Elson JL, Turnbull DM, Taylor RW. Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach. Biochemical Journal 2007, 404(2), e3-5.
• Chinnery PF, Hudson G, Stewart J, Craig K, Taylor RW, Turnbull DM, Ramesh V, McFarland R, Burn DJ, Hanna MG, Horvath R, Lochmueller H, Zeviani M. When and how should neurologists test for mutations in POLG?. In: Journal of Neurology, Neurosurgery and Psychiatry: Spring Scientific Meeting of the Association of British Neurologists. 2007, Cambridge, UK: BMJ Group.
• 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.
• Taylor RW, Schaefer AM, Blakely EL, He L, McFarland R, Whittaker RG, Chinnery PF, Turnbull DM. [abstract] The prevalence of pathogenic mitochondrial DNA mutations in adults. Journal of Inherited Metabolic Disease 2006, 29(s1), 44.
• Mewasingh LD, Hussein N, Chinnery PF, Taylor RW. A case of progressive neuronal degeneration of childhood with severe mitochondrial respiratory chain deficiencies. In: Developmental Medicine and Child Neurology: 31st annual meeting of the British Paediatric Neurology Association. 2006, Bristol, UK: Mac Keith Press.
• Blakely EL, Goodall JA, Anderson KN, Betts JL, Dean AF, Allen CMC, Compston A, Turnbull DM, Taylor RW. A novel mitochondrial DNA tRNA gene mutation in a family with mitochondrial encephalopathy. In: Journal of Inherited Metabolic Disease. 2006, Springer Netherlands.
• Vondracek P, Hermanova M, Vodickova K, Fajkusova L, Taylor RW, Turnbull DM. An unusual case of congenital muscular dystrophy with mitochondrial structural abnormalities. In: 11th International Congress of the World Muscle Society. 2006, Bruges, Belgium: Neuromuscular Disorders: Pergamon.
• Pagnamenta AT, Taanman J-W, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. Human Reproduction 2006, 21(10), 2467-2473.
• Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, Haller RG, Turnbull DM. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain 2006, 129(12), 3391-3401.
• Blakely EL, He L, Gardner JL, Walter J, Hughes I, Turnbull DM, Taylor RW. Fatal mitochondrial DNA depletion myopathy due to novel mutations in the TK2 gene. Journal of Inherited Metabolic Disease 2006, 29, 120-120.
• Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, Jaros E, Hersheson JS, Betts J, Klopstock T, Taylor RW, Turnbull DM. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nature Genetics 2006, 38(5), 515-517.
• Arasaradnam RP, Greaves LC, Commane D, Mathers JC, Taylor RW, Turnbull DM. Mitochondrial DNA (MTDNA) mutations in human colonic crypts: A novel biomarker of colorectal cancer. GUT 2006, 55(S2), A24.
• Greaves LC, Preston SL, Tadrous PJ, Taylor RW, Barron MJ, Oukrif D, Leedham SJ, Deheragoda M, Sasieni P, Novelli MR, Jankowski JAZ, Turnbull DM, Wright NA, McDonald SAC. Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. Proceedings of the National Academy of Sciences of the United States of America 2006, 103(3), 714-719.
• Greaves LC, Taylor RW. Mitochondrial DNA mutations in human disease. IUBMB Life 2006, 58(3), 143-151.
• Gupta S, Wyllie J, Wright C, Turnbull D, Taylor R. Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period. Journal of Maternal-Fetal and Neonatal Medicine 2006, 19(9), 587-589.
• Betts J, Jaros E, Perry RH, Schaefer AM, Taylor RW, Abdel-All Z, Lightowlers RN, Turnbull DM. Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathology and Applied Neurobiology 2006, 32(4), 359-373.
• McDonald S, Greaves LG, Leedham SJ, Preston SL, Taylor RW, Oukrif D, Deheragoda M, Novelli MR, Turnbull DM, Lee CY, Jankowski JAZ, Wright NA. Monoclonal conversion in human gastric glands: Insights into stem cell and clonal architecture. In: Journal of Pathology: 189th Meeting of the Pathological Society of Great Britain and Ireland. 2006, Cambridge, UK: John Wiley & Sons Ltd.
• McDonald SAC, Greaves LG, Leedham SJ, Yin-Lee C, Deheragoda M, Oukrif D, Novelli MR, Taylor RW, Turnbull DM, Jankowski JAZ, Wright NA. Monoclonal conversion of human gastric glands provides insights into stem cell and clonal architecture. In: Gut: Annual Meeting of the British Society of Gastroenterology. 2006, Birmingham, UK: BMJ Group.
• Borthwick GM, Taylor RW, Walls TJ, Tonska K, Taylor GA, Shaw PJ, Ince PG, Turnbull DM. Motor neuron disease in a patient with a mitochondrial tRNA^lle mutation. Annals of Neurology 2006, 59(3), 570-574.
• Longley MJ, Clark S, Man CYW, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Mutant POLG2 disrupts DNA polymerase γ subunits and causes progressive external ophthalmoplegia. American Journal of Human Genetics 2006, 78(6), 1026-1034.
• Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor RW. Novel mitochondrial transfer RNA^Phe gene mutation associated with late-onset neuromuscular disease. Archives of Neurology 2006, 63(6), 902-905.
• 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.
• Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He L-P, Blakely E, Turnbull DM, Chinnery PF. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006, 66(9), 1439-1441.
• Pye D, Kyriakouli DS, Taylor GA, Johnson R, Elstner M, Meunier B, Chrzanowska-Lightowlers ZMA, Taylor RW, Turnbull DM, Lightowlers RN. Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants. Nucleic Acids Research 2006, 34(13), e95.
• Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW. Pure myopathy associated with a novel mitochondrial tRNA gene mutation. Neurology 2006, 66(3), 447-449.
• Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?. Journal of Medical Genetics 2006, 43(2), 175-179.
• Blakely EL, Rennie KJ, Jones L, Elstner M, Chrzanowska-Lightowlers ZMA, White CB, Shield JPH, Pilz DT, Turnbull DM, Poulton J, Taylor RW. Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis. Pediatric Research 2006, 59(3), 440-444.
• Brown D, Herbert M, Lamb V, Chinnery PF, Taylor R, Lightowlers R, Craven L, Cree L, Gardner JL, Turnbull DM. Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006, 368(9529), 87-89.
• McFarland R, Schaefer AM, Blakely EL, Foster S, Ramesh V, Dorman PJ, Chinnery PF, Turnbull DM, Taylor RW. Two novel twists in mitochondrial dystonia. 2006, Journal of Inherited Metabolic Disease.
• Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM, Jackson MJ, Turnbull DM, Taylor RW. A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. FEBS Journal 2005, 272(14), 3583-3592.
• Deschauer M, Hudson G, Muller T, Taylor RW, Chinnery PF, Zierz S. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscular Disorders 2005, 15(4), 311-315.
• Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 2005, 64(7), 1204-1208.
• Barron MJ, Chinnery PF, Howel D, Blakely EL, Schaefer AM, Taylor RW, Turnbull DM. Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy. Neuromuscular Disorders 2005, 15(11), 768-774.
• Deschauer M, Krasnianski A, Zierz S, Taylor RW. False-positive diagnosis of a single, large-scale mitochondrial DNA deletion by southern blot analysis: The role of neutral polymorphisms. Genetic Testing 2005, 8(4), 395-399.
• Taylor RW. Gene therapy for the treatment of mitochondrial DNA disorders. Expert Opinion on Biological Therapy 2005, 5(2), 183-194.
• Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. European Journal of Human Genetics 2005, 13(5), 623-627.
• Advani A, Taylor R. Life-threatening hypokalaemia on a low-carbohydrate diet associated with previously undiagnosed primary hypoaldosteronism. Diabetic Medicine 2005, 22(11), 1605-1607.
• Walker M, Taylor RW, Turnbull DM. Mitochondrial diabetes. Diabetic Medicine 2005, 22(4), 18-20.
• Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nature Reviews Genetics 2005, 6(5), 389-402.
• Schaefer AM, Blakely EL, Griffiths PG, Turnbull DM, Taylor RW. Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis. Muscle and Nerve 2005, 32(1), 104-107.
• Taylor RW, Elson JL, McFarland R, Mitchell AL, Howell N, Turnbull DM. Sequence variation in the mitochondrial genome: what is the pathogenic mutation?. In: Journal of Medical Genetics: British Human Genetics Conference. 2005, York, UK: BMJ Group.
• Schaefer AM, Blakeley EL, McFarland R, Taylor RW, Turnbull DM. Timelines in mitochondrial DNA disease: Genotypes, phenotypes, and disease progression. In: Journal of Neurology, Neurosurgery and Psychiatry: Autumn Meeting of the Association of British Neurologists. 2005, Blackpool, UK: BMJ Group.
• Schaefer AM, Taivassalo T, Gardner JL, Blakely EL, Barron MJ, Taylor RW, Haller RG, Turnbull DM. Treating the untreatable: Exercise induced stem cell activation as a novel treatment for mitochondrial myopathy. In: Annual Meeting of the Association of British Neurologists. 2005, Belfast, Northern Ireland: Journal of Neurology, Neurosurgery and Psychiatry, BMJ Group.
• Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AAM, Charlton CPJ, Turnbull DM, Bindoff LA. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. European Journal of Human Genetics 2004, 12(6), 509-512.
• 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.
• Elson J, McFarland R, Taylor R, Howell N, Turnbull D. Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• 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.
• Taylor RW, Schaefer AM, McDonnell MT, Petty RKH, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM. Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene. Neurology 2004, 62(8), 1420-1423.
• Blakely EL, 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.
• 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.
• Gardner J, Taivassalo T, Schaefer A, Blakely E, Hayes C, Barron M, Haller R, Turnbull D, Taylor R. Endurance training in patients with single, large-scale mtDNA deletions: molecular genetic studies. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• 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.
• Schaefer A, Blakely E, Hayes C, McFarland R, Chinnery P, Taylor R, Turnbull D. Mitochondrial disease: new prevalence figures with major resource implications. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Blakely EL, He LP, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in "identical" twin brothers. Journal of Medical Genetics 2004, 41(2), e19.
• Blakely EL, He L, Taylor RW, Chinnery PF, Lightowlers RN, Schaefer AM, Turnbull DM. Mitochondrial DNA deletion in identical twins. Journal of Medical Genetics 2004, 41(2), e19.
• Taylor R, He L, Greaves L, Taylor G, Barron M, Turnbull D. Mitochondrial DNA mutations in human colonic crypt stem cells. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Greaves L, Barron M, Taylor R, Turnbull D. Mitochondrial DNA mutations in human colonic crypt stem cells - implications for function. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Taylor RW, He L, Proctor SJ, Middleton PG, Turnbull DM. Mitochondrial DNA mutations in the haematopoietic system. Leukemia 2004, 18(1), 169-170.
• 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.
• Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl H-HM, Ryan MT, Thorburn DR. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. Journal of Clinical Investigation 2004, 114(6), 837-845.
• Deschauer M, Chinnery PF, Schaefer AM, Turnbull DM, Taylor RW, Zierz S, Shanske S, DiMauro S, Mojamaa K, Wilichowski E, Thorburn DR. No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation. Journal of Neurology, Neurosurgery and Psychiatry 2004, 75(8), 1204-1205.
• 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.
• Schaefer AM, Blakely EL, Barron MJ, Griffiths PG, Taylor RW, Turnbull DM. Ophthalmoplegia: When all the tests are negative. In: Autumn Meeting of the Association of British Neurologists. 2004, Glasgow, Scotland: Journal of Neurology, Neurosurgery and Psychiatry: BMJ Publishing Group.
• 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.
• Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmuller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS, Turnbull DM. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004, 364(9434), 592-596.
• Hudson G, Schaefer A, Taylor R, Deschauer M, Turnbull D, Chinnery P. Sensory ataxic neuropathy due to a novel C10Orf2 (Twinkle) gene mutation with germline mosaicism. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Bidooki S, Jackson MJ, Johnson MA, Chrzanowska-Lightowlers ZMA, Taylor RW, Venables G, Lightowlers RN, Turnbull DM, Bindoff LA. Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNA^Ser(UCN) gene. Neuromuscular Disorders 2004, 14(7), 417-420.
• Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Strategies for treating disorders of the mitochondrial genome. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Taylor RW, Schaefer AM, Barron MJ, McFarland R, Turnbull DM. The diagnosis of mitochondrial muscle disease. Neuromuscular Disorders 2004, 14(4), 237-245.
• Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders - past, present and future. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
• Chinnery P, DiMauro S, Zeviani M, Lombes A, Lochmuller H, Thorburn D, Bindoff LA, Poulton J, Deschauer M, Taylor RW, Matthews JNS, Turnbull DM. The risk of developing a mitochondrial DNA deletion disorder. In: Journal of Medical Genetics: British Human Genetics Conference. 2004, York, UK: BMJ Group.
• 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. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. Journal of the American College of Cardiology 2003, 41(10), 1786-1796.
• Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW. A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. Neuromuscular Disorders 2003, 13(7-8), 568-572.
• Deschauer M, Chrzanowska-Lightowlers ZMA, Biekmann E, Pourfarzam M, Taylor RW, Turnbull DM, Zierz S. A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency. Molecular Genetics and Metabolism 2003, 79(2), 124-128.
• McGregor A, Smith PM, Ross GF, Taylor RW, Turnbull DM, Lightowlers RN. Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase γ in vitro is not impaired. Biochimica et Biophysica Acta - Gene Structure and Expression 2003, 1629(1-3), 73-83.
• Wardell TM, Ferguson E, Chinnery PF, Borthwick GM, Taylor RW, Jackson G, Craft A, Lightowlers RN, Howell N, Turnbull DM. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research: Fundamental and Molecular Mechanisms of Mutagenesis 2003, 525(1-2), 19-27.
• Wardell, T. M., Ferguson, E., Chinnery, P. F., Borthwick, G. M., Taylor, R. W., Jackson, G., Craft, A. W., Lightowlers, R. N., Howell, N., Turnbull, D. M. Changes in the human mitochondrial genome after treatment of malignant disease. Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 2003, 525(1-2), 19-27.
• 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.
• Schaefer AM, McFarland R, Gardner JL, Lynn S, Hayes CM, Barron MJ, Walker M, Chinnery PF, Taylor RW, Turnbull DM. Familial mitochondrial myopathy: New insights into the T14709C mitochondrial tRNA mutation. In: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, CA: American Journal of Human Genetics, Cell Press.
• Taylor RW, Jobling MS, Turnbull DM, Chinnery PF. Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy. Journal of Medical Genetics 2003, 40(7), -.
• Bigger B, Taylor RW, Turnbull DM, Lightowlers RN. Gene therapy for mitochondrial DNA disorders. In: Holt, I.J, ed. Genetics of Mitochondrial Diseases. Oxford, UK: Oxford University Press, 2003, pp.327-344.
• Taylor RW, McDonnell MT, Blakely EL, Chinnery PF, Taylor GA, Howell N, Zeviani M, Briem E, Carrara F, Turnbull DM. Genotypes from patients indicate no paternal mitochondrial DNA contribution. Annals of Neurology 2003, 54(4), 521-524.
• McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. NeuroReport 2003, 14(3), 485-488.
• Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. Neurology 2003, 60(8), 1357-1359.
• Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations and aging in human colonic crypts and stem cells. In: American Journal of Human Genetics: Annual Meeting of the American Society of Human Genetics. 2003, Los Angeles, California, USA: Cell Press.
• Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, Taylor GA, Plusa SM, Needham SJ, Greaves LC, Kirkwood TBL, Turnbull DM. Mitochondrial DNA mutations in human colonic crypt stem cells. Journal of Clinical Investigation 2003, 112(9), 1351-1360.
• Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003, 60(8), 1354-1356.
• He, L., Luo, L., Proctor, S. J., Middleton, P. G., Blakely, E. L., Taylor, R. W., Turnbull, D. M. Somatic mitochondrial DNA mutations in adult-onset leukaemia. Leukemia 2003, 17(12), 2487-2491.
• Smith PM, Ross GF, Wardell TM, Taylor RW, Turnbull DM, Lightowlers RN. The use of PNAs and their derivatives in mitochondrial gene therapy. Letters in Peptide Science 2003, 10(3-4), 353-360.
• 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.
• Taylor R. Blood pressure and cardiovascular risk in the HOPE study. Lancet 2002, 359(9323), 2117-2118.
• Turnbull DM, Taylor RW, McFarland RM, Schaefer AM. Defects of the mitochondrial genome. SAGGI - Child Development and Disabilities 2002, 28(1), 75-82.
• He LP, Chinnery PF, Durham SE, Blakely EL, Wardell TM, Borthwick GM, Taylor RW, Turnbull DM. Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Research 2002, 30(14), e68.
• Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome is caused by a point mutation in BCS1L suggesting a new role of the BCS1L in iron metabolism. In: American Journal of Human Genetics: 52nd Annual Meeting of the American Society of Human Genetics. 2002, Baltimore, Maryland, USA: Cell Press.
• Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. American Journal of Human Genetics 2002, 71(4), 863-876.
• 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.
• McDermott CJ, Taylor RW, Hayes C, Johnson M, Bushby KMD, Turnbull DM, Shaw PJ. Investigation of mitochondrial function in hereditary spastic paraparesis. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Taylor RW, Morris AAM, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. European Journal of Human Genetics 2002, 10(2), 141-144.
• Schaefer AM, Taylor RW, Macfarland RM, Chinnery PF. Mitochondrial disease and symptom progression: A complex management issue. In: Journal of Neurology, Neurosurgery and Psychiatry: Proceedings of the Association of British Neurologists. 2002, Oxford: BMJ Group.
• Menzies FM, Cookson MR, Taylor RW, Turnbull DM, Chrzanowska-Lightowlers ZMA, Dong L, Figlewicz DA, Shaw PJ. Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. Brain 2002, 125(7), 1522-1533.
• Perucca-Lostanlen D, Taylor RW, Narbonne H, de Camaret BM, Hayes CM, Saunieres A, Paquis-Flucklinger V, Turnbull DM, Vialettes B, Desnuelle C. Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness. Biochimica et Biophysica Acta: Molecular Basis of Disease 2002, 1588(3), 210-216.
• 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.
• Carey PE, Halliday J, Snaar JEM, Morris P, Taylor R. Post-prandial substrate storage in Type 2 diabetes. In: Diabetologia: 38th EASD Annual Meeting of the European Association for the Study of Diabetes. 2002, Budapest, Hungary: Springer.
• Pandit R, Taylor R. Quality Assurance in eye screening. Diabetic Medicine 2002, 19(4), 285-291.
• Pandit RJ, Taylor R. Quality assurance in screening for sight-threatening diabetic retinopathy. Diabetic Medicine 2002, 19(4), 285-291.
• McFarland R, Taylor RW, Turnbull DM. The neurology of mitochondrial DNA disease. Lancet Neurology 2002, 1(6), 343-351.
• Taylor RW, Wardell TM, Smith PM, Muratovska A, Murphy MP, Turnbull DM, Lightowlers RN. An antigenomic strategy for treating heteroplasmic mtDNA disorders. Advanced Drug Delivery Reviews 2001, 49(1-2), 121-125.
• Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM. Annals 25th anniversary. Annals of Neurology 2001, 50(1), 1-3.
• Counter PR, Hilton MP, Webster D, Wardell TM, Taylor RW, Besley G, Turnbull DM, Robinson PJ. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. Journal of Laryngology and Otology 2001, 115(9), 730-732.
• Counter PR, Hilton MP, Webster D, Wardell T, Taylor RW, Besley G, Turnbull DM, Robinson PJ. Cochlear implantation of a patient with a previously undescribed mitochondrial DNA defect. Journal of Laryngology and Otology 2001, 115(9), 730-732.
• Turnbull DM, Lightowlers RN, Taylor RW. Current perspectives in the treatment of mitochondrial DNA diseases. Functional Neurology 2001, 16(4), 89-96.
• Taylor RW, Wardell TM, Connolly BA, Turnbull DM, Lightowlers RN. Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. Nucleic Acids Research 2001, 29(16), 3404-3412.
• Taylor RW, Turnbull DM. Mitochondrial diseases. In: New Treatments in Neurology. London: Butterworth-Heinemann, 2001, pp.283-301.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Science 2001, 21(3), 909-912.
• Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Annals of Neurology 2001, 50(1), 104-107.
• Muratovska A, Lightowlers RN, Taylor RW, Wilce JA, Murphy MP. Targeting large molecules to mitochondria. Advanced Drug Delivery Reviews 2001, 49(1-2), 189-198.
• Muratovska A, Lightowlers RN, Taylor RW, Turnbull DM, Smith RAJ, Wilce JA, Martin SW, Murphy MP. Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: Implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Research 2001, 29(9), 1852-1863.
• Taylor RW, Taylor GA, Durham SE, Turnbull DM. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Research 2001, 29(15), e74.
• Schaefer AM, Taylor RW, Turnbull DM. The mitochondrial genome and mitochondrial muscle disorders. Current Opinion in Pharmacology 2001, 1(3), 288-293.
• Taylor RW, Wardell TM, Blakely EL, Borthwick GM, Brierley EJ, Turnbull DM. Analysis of Mitochondrial DNA Mutations. Methods in Molecular Medicine: Aging Methods and Protocols 2000, 38, 245-264.
• Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Analysis of mitochondrial DNA mutations: point mutations. In: Barnett, YA; Barnett, CR, ed. Ageing Methods and Protocols. New Jersey: Humana Press, 2000, pp.265-277.
• Taylor RW, McGregor A, Lightowlers RN, Turnbull DM. Gene therapy for mitochondrial DNA defects. In: Ebadi, MS, ed. Mitochondrial Ubiquinone (Coenzyme Q10): biochemical, functional, medical and therapeutic aspects in human health and diseases. Prominent Press, Arizona, 2000.
• Taylor RW, Chinnery PF, Turnbull DM, Lightowlers RN. In-vitro genetic modification of mitochondrial function. Human Reproduction 2000, 15(2), 79-85.
• Birch-Machin MA, Taylor RW, Cochran B, Ackrell BAC, Turnbull DM. Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Annals of Neurology 2000, 48(3), 330-335.
• Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM. Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies. Neurology 2000, 55(2), 302-304.
• Taylor RW, Wardell TM, Lightowlers RN, Turnbull DM. Molecular basis for treatment of mitochondrial myopathies. Neurological Sciences 2000, 21(9), S909-S912.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid and delivery to human mitochondria. Gene Therapy 2000, 7(9), 813.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria (vol 6, pg 1919, 1999) Erratum. Gene Therapy 2000, 7(9), 813-813.
• Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. The epidemiology of pathogenic mitochondrial DNA mutations. Annals of Neurology 2000, 48(2), 188-193.
• Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZMA, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. 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. American Journal of Human Genetics 1999, 64(5), 1330-1339.
• Clarke K, Taylor R, Johnson MA, Chinnery P, Chrzanowska-Lightowlers ZMA, Andrews R, Nelson I, Wood N, Lamont P, Hanna M, Lightowlers RN, Turnbull DM. 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. American Journal of Human Genetics 1999, 64(5), 1330-1339.
• Taylor RW, Andrews RM, Chinnery PF, Turnbull DM. Analysis of Mitochondrial DNA mutations. Methods in Molecular Medicine: Aging methods and protocols 1999, 38, 265-277.
• Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Nonrandom tissue distribution of mutant mtDNA. American Journal of Medical Genetics 1999, 85(5), 498-501.
• Chinnery PF, Zwijnenburg PJG, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Non-random tissue distribution of mutant mtDNA. American Journal of Medical Genetics. Part A 1999, 85(5), 498-501.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria. Gene Therapy 1999, 6(12), 1919-1928.
• Chinnery PF, Taylor RW, Diekert K, Lill R, Turnbull DM, Lightowlers RN. Peptide nucleic acid delivery to human mitochondria. Gene Therapy 1999, 6(12), 1919-1928.
• Taylor RW, Chinnery PF, Bates MJD, Jackson MJ, Johnson MA, Andrews RM, Turnbull DM. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochemical and Biophysical Research Communications 1998, 243(1), 47-51.
• Taylor R, Taylor G, Morris C, Edwardson J, Turnbull D. Diagnosis of mitochondrial disease: Assessment of mitochondrial DNA heteroplasmy in blood. Biochemical and Biophysical Research Communications 1998, 251(3), 883-887.
• P. F. Chinnery, M. A. Johnson, R. W. Taylor, W. F. Durward and D. M. Turnbull. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997, 49, 1166-1168.
• P. F. Chinnery, M. A. Johnson, R. W. Taylor, R. N. Lightowlers and D. M. Turnbull. A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Annals of Neurology 1997, 41, 408-410.
• Newkirk, J.E., Taylor, R.W., Howell, N., Bindoff, L.A., Chinnery, P.F., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population. Diabetic. Med 1997, 14, 457-460.
• R. W. Taylor, P. F. Chinnery, D. M. Turnbull and R. N. Lightowlers. Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nature Genetics 1997, 15, 212-215.
• R. W. Taylor, P. F. Chinnery, K. M. Clark, R. N. Lightowlers and D. M. Turnbull. Treatment of mitochondrial disease. Journal of Bioenergetics and Biomembranes 1997, 29, 195-205.
• Birch-Machin, M.A., Marsac, C., Ponsot, G., Parfait, B., Taylor, R.W., Rustin, P. and Munnich, A. Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. Biochem. Biophys. Res. Commun 1996, 220, 57-62.
• Taylor, R.W., Birch-Machin, M.A., Schaefer, J., Taylor, L., Shakir, R., Ackrell, B.A.C., Cochran, B., Bindoff, L.A., Jackson, M.J., Griffiths, P. and Turnbull, D.M. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. Ann. Neurol 1996, 39, 224-232.
• Armstrong, M., Haldane, F., Taylor, R.W., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Human Insulin receptor substrate-1: variant sequences in familial non-insulin dependent diabetes mellitus. Diabetic Med 1996, 13, 133-138.
• Taylor RW, Chinnery PF, Haldane F, Morris AAM, Bindoff LA, Wilson J, Turnbull DM. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Annals of Neurology 1996, 40(3), 459-462.
• Taylor, R.W., Printz, R.L., Armstrong, M., Granner, D.K., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Variant sequences of the Hexokinase II gene in familial NIDDM. Diabetologia 1996, 39, 322-328.
• Walker, M., Taylor, R.W., Stewart, M.W., Bindoff, L.A., Shearing, P.A., Anyaoku, V., Jackson, M.J., Humphriss, D.B., Johnston, D.G., Alberti, K.G.M.M. and Turnbull, D.M. Insulin and Proinsulin secretion in subjects with abnormal glucose tolerance and a mitochondrial tRNALeu(UUR) mutation. Diabetes Care 1995, 18, 1507-1509.
• Walker, M., Taylor, R.W., Stewart, M.W., Bindoff, L.A., Jackson, M.J., Alberti, K.G.M.M. and Turnbull, D.M. Insulin sensitivity and mitochondrial gene mutation. Diabetes Care 1995, 18, 273-274.
• Morris, A.A.M., Taylor, R.W., Lightowlers, R.N., Aynsley-Green, A., Bartlett, K. and Turnbull, D.M. Medium-chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. Hum. Mol. Genet 1995, 4, 747-749.
• Morris, A.A.M., Taylor, R.W., Birch-Machin, M.A., Jackson, M.J., Coulthard, M.G., Bindoff, L.A., Welch, R.J., Howell, N. and Turnbull, D.M. Neonatal Fanconi syndrome due to deficiency of complex III of the mitochondrial respiratory chain. Paediatr. Nephrol 1995, 9, 407-411.
• Ruitenbeek, W., Poels, P.J.E., Turnbull, D.M., Garavaglia, B., Chalmers, R.A., Taylor, R.W. and Gabreels, F.J.M. Rhabdomyolysis and acute encephalopathy in late onset medium-chain acyl-CoA dehydrogenase deficiency. J. Neurol. Neurosurg. Psychiatry 1995, 58, 209-214.
• Taylor, R.W., Stewart, M.W., Avery, P.J., Humphriss, D.B., Alberti, K.G.M.M., Turnbull, D.M. and Walker, M. Apolipoprotein E and familial non-insulin dependent diabetes mellitus. Lancet 1994, 344, 406.
• Taylor, R.W., Birch-Machin, M.A., Bartlett, K., Lowerson, S.A., and Turnbull, D.M. 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 1994, 269, 3523-3528.
• Taylor, R.W., Birch-Machin, M.A., Lowerson, S., Sherratt, H.S.A., West, I.C., Bartlett, K. and Turnbull, D.M. Defects of oxidative phosphorylation in man. Biochem. Soc. Trans 1993, 21, 804-807.
• Taylor, R.W., Birch-Machin, M.A., Bartlett, K. and Turnbull, D.M. (1993). Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the mitochondrial respiratory chain. Biochim. Biophys. Acta 1993, 1181, 261-265.
• Taylor, R.W., Jackson, S., Pourfarzam, M., Bartlett, K. and Turnbull, D.M. Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets. J. Inher. Metab. Dis 1992, 15, 727-732.