Staff Profile

Roles and Responsibilities

I am Project Manager for the NIHR Newcastle In-Vitro Diagnostics Cooperative (MIC). The Newcastle MIC is funded by the NIHR and is delivered as a partnership between Newcastle University and Newcastle upon Tyne Hospitals NHS Foundation Trust. Its aim is to accelerate and support the adoption of new diagnostic tests, offering expertise in generating the high-quality evidence and evaluations that demonstrate the value of a new test. 

Previous Positions

Senior Research Associate and Laboratory Manager, Wellcome Centre for Mitochondrial Research, Newcastle University

Qualifications

PhD Rheumatology, Newcastle University

BSc Hons Genetics, Newcastle University

• Articles

  • Menger KE, Chapman J, Díaz-Maldonado H, Khazeem MM, Deen D, Erdinc D, Casement JW, Di Leo V, Pyle A, Rodríguez-Luis A, Cowell IG, Falkenberg M, Austin CA, Nicholls TJ. Two type I topoisomerases maintain DNA topology in human mitochondria. Nucleic Acids Research 2022, gkac857.
  • Pickett SJ, Deen D, Pyle A, Santibanez-Koref M, Hudson G. Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk. Mitochondrion 2022, 63, 85-88.
  • Calabrese C, Pyle A, Griffin H, Coxhead J, Hussain R, Braund PS, Li L, Burgess A, Munroe PB, Little L, Warren HR, Cabrera C, Hall A, Caulfield MJ, Rothwell PM, Samani NJ, Hudson G, Chinnery PF. Heteroplasmic mitochondrial DNA variants in cardiovascular diseases. PLoS Genetics 2022, 18(4), e1010068.
  • Rensvold JW, Shishkova E, Sverchkov Y, Miller IJ, Cetinkaya A, Pyle A, Manicki M, Brademan DR, Alanay Y, Raiman J, Jochem A, Hutchins PD, Peters SR, Linke V, Overmyer KA, Salome AZ, Hebert AS, Vincent CE, Kwiecien NW, Rush MJP, Westphall MS, Craven M, Akarsu NA, Taylor RW, Coon JJ, Pagliarini DJ. Defining mitochondrial protein functions through deep multiomic profiling. Nature 2022, 606, 382-388.
  • Kaiyrzhanov R, Mohammed SEM, Maroofian R, Husain RA, Catania A, Torraco A, Alahmad A, Dutra-Clarke M, Gronborg S, Sudarsanam A, Vogt J, Arrigoni F, Baptista J, Haider S, Feichtinger RG, Bernardi P, Zulian A, Gusic M, Efthymiou S, Bai R, Bibi F, Horga A, Martinez-Agosto JA, Lam A, Manole A, Rodriguez D-P, Durigon R, Pyle A, Albash B, Dionisi-Vici C, Murphy D, Martinelli D, Bugiardini E, Allis K, Lamperti C, Reipert S, Risom L, Laugwitz L, Di Nottia M, McFarland R, Vilarinho L, Hanna M, Prokisch H, Mayr JA, Bertini ES, Ghezzi D, Ostergaard E, Wortmann SB, Carrozzo R, Haack TB, Taylor RW, Spinazzola A, Nowikovsky K, Houlden H. Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement. American Journal of Human Genetics 2022, 109(9), 1692-1712.
  • Kurzawa-Akanbi M, Keogh M, Tsefou E, Ramsay L, Johnson M, Keers S, Ochieng LW, McNair A, Singh P, Khan A, Pyle A, Hudson G, Ince PG, Attems J, Burn J, Chinnery PF, Morris CM. Neuropathological and Biochemical Investigation of Hereditary Ferritinopathycases with Ferritin Light Chain Mutation: Prominent Protein Aggregation in the Absence of Major Mitochondrial or Oxidative Stress. Neuropathology and Applied Neurobiology 2021, 47(1), 26-42.
  • Roca-Bayerri C, Robertson F, Pyle A, Hudson G, Payne BAI. Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus. Clinical Infectious Diseases 2021, 73(2), e466-e473.
  • Topf A, Pyle A, Griffin H, Matalonga L, Schon K, Sickmann A, Schara-Schmidt U, Hentschel A, Chinnery PF, Kolbel H, Roos A, Horvath R. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). European Journal of Human Genetics 2021, 29(9), 1348-1353.
  • Collier JJ, Guissart C, Olahova M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schols L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW. Developmental consequences of defective Atg7-mediated autophagy in humans. New England Journal of Medicine 2021, 384(25), 2406-2417.
  • Cairns G, Burte F, Price R, O'Connor E, Toms M, Mishra R, Moosajee M, Pyle A, Sayer JA, Yu-Wai-Man P. A mutant wfs1 zebrafish model of Wolfram syndrome manifesting visual dysfunction and developmental delay. Scientific Reports 2021, 11, 20491.
  • Turro E, Astle WJ, Graf S, Greene D, Allen HL, Frontini M, Stephens J, Downes K, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Caulfield MJ, Chinnery PF, Dixon PH, James R, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Tan RYY, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Abbs S, Abulhoul L, Adlard J, Ahmed M, Aitman TJ, Alachkar H, Allsup DJ, Almeida-King J, Ancliff P, Antrobus R, Armstrong R, Arno G, Ashford S, Astle WJ, Attwood A, Aurora P, Babbs C, Bacchelli C, Bakchoul T, Banka S, Bariana T, Barwell J, Batista J, Baxendale HE, Beales PL, Bennett DL, Bentley DR, Bentley DR, Bierzynska A, Biss T, Bitner-Glindzicz MAK, Black GC, Bleda M, Blesneac I, Bockenhauer D, Bogaard H, Bourne CJ, Boyce S, Bradley JR, Bragin E, Breen G, Brennan P, Brewer C, Brown M, Browning AC, Browning MJ, Buchan RJ, Buckland MS, Bueser T, Diz CB, Burn J, Burns SO, Burren OS, Burren OS, Burrows N, Calleja P, Campbell C, Carr-White G, Carss K, Carss K, Casey R, Caulfield MJ, Chambers J, Chambers J, Chan MMY, Cheah C, Cheng F, Chinnery PF, Chitre M, Christian MT, Church C, Clayton-Smith J, Cleary M, Brod NC, Coghlan G, Colby E, Cole TRP, Collins J, Collins PW, Colombo C, Compton CJ, Condliffe R, Cook S, Cook HT, Cooper N, Corris PA, Furnell A, Cunningham F, Curry NS, Cutler AJ, Daniels MJ, Dattani M, Daugherty LC, Davis J, De Soyza A, Deevi SVV, Dent T, Deshpande C, Dewhurst EF, Dixon PH, Douzgou S, Downes K, Drazyk AM, Drewe E, Duarte D, Dutt T, Edgar JDM, Edwards K, Egner W, Ekani MN, Elliott P, Erber WN, Erwood M, Estiu MC, Evans DG, Evans G, Everington T, Eyries M, Fassihi H, Favier R, Findhammer J, Fletcher D, Flinter FA, Floto RA, Fowler T, Fox J, Frary AJ, French CE, Freson K, Frontini M, Gale DP, Gale DP, Gall H, Ganesan V, Gattens M, Geoghegan C, Gerighty TSA, Gharavi AG, Ghio S, Ghofrani H-A, Gibbs JSR, Gibson K, Gilmour KC, Girerd B, Gleadall NS, Goddard S, Goldstein DB, Gomez K, Gordins P, Gosal D, Graf S, Graham J, Grassi L, Greene D, Greenhalgh L, Greinacher A, Gresele P, Griffiths P, Grigoriadou S, Grocock RJ, Grozeva D, Gurnell M, Hackett S, Hadinnapola C, Hague WM, Hague R, Haimel M, Haimel M, Hall M, Hanson HL, Haque E, Harkness K, Harper AR, Harris CL, Hart D, Hassan A, Hayman G, Henderson A, Herwadkar A, Hoffman J, Holden S, Horvath R, Houlden H, Houweling AC, Howard LS, Hu F, Hudson G, Hughes J, Huissoon AP, Humbert M, Humphray S, Hunter S, Hurles M, Irving M, Izatt L, James R, Johnson SA, Jolles S, Jolley J, Josifova D, Jurkute N, Karten T, Karten J, Kasanicki MA, Kazkaz H, Kazmi R, Kelleher P, Kelly AM, Kelsall W, Kempster C, Kiely DG, Kingston N, Klima R, Koelling N, Kostadima M, Kovacs G, Koziell A, Koziell A, Kreuzhuber R, Kuijpers TW, Kumar A, Kumararatne D, Kurian MA, Laffan MA, Lalloo F, Lambert M, Allen HL, Lawrie A, Layton DM, Lench N, Lentaigne C, Lester T, Levine AP, Linger R, Longhurst H, Lorenzo LE, Louka E, Lyons PA, Machado RD, MacKenzie Ross RV, Madan B, Maher ER, Maimaris J, Malka S, Mangles S, Mapeta R, Mapeta R, Marchbank KJ, Marks S, Markus HS, Marschall H-U, Marshall A, Martin J, Mathias M, Matthews E, Maxwell H, McAlinden P, McCarthy MI, McKinney H, McMahon A, Meacham S, Mead AJ, Castello IM, Megy K, Megy K, Mehta SG, Michaelides M, Millar C, Mohammed SN, Moledina S, Montani D, Moore AT, Morales J, Morrell NW, Mozere M, Muir KW, Mumford AD, Nemeth AH, Newman WG, Newnham M, Noorani S, Nurden P, O'Sullivan J, Obaji S, Odhams C, Okoli S, Olschewski A, Olschewski H, Ong KR, Oram SH, Ormondroyd E, Ormondroyd E, Ouwehand WH, Palles C, Papadia S, Park S-M, Parry D, Patel S, Paterson J, Peacock A, Pearce SH, Peden J, Peerlinck K, Pepke-Zaba J, Petersen R, Pilkington C, Poole KES, Prathalingam R, Psaila B, Pyle A, Quinton R, Rahman S, Rankin S, Rao A, Raymond FL, Rayner-Matthews PJ, Rees C, Rendon A, Renton T, Rhodes CJ, Rice ASC, Richardson S, Richter A, Robert L, Roberts I, Rogers A, Rose SJ, Ross-Russell R, Roughley C, Roy NBA, Ruddy DM, Sadeghi-Alavijeh O, Saleem MA, Samani N, Samarghitean C, Sanchis-Juan A, Sanchis-Juan A, Sargur RB, Sarkany RN, Satchell S, Savic S, Sayer JA, Sayer G, Scelsi L, Schaefer AM, Schulman S, Scott R, Scully M, Searle C, Seeger W, Sen A, Sewell WAC, Seyres D, Shah N, Shamardina O, Shamardina O, Shapiro SE, Shaw AC, Short PJ, Sibson K, Side L, Simeoni I, Simpson MA, Sims MC, Sivapalaratnam S, Smedley D, Smith KR, Smith KGC, Snape K, Soranzo N, Soubrier F, Southgate L, Spasic-Boskovic O, Staines S, Staples E, Stark H, Stark H, Stephens J, Steward C, Stirrups KE, Stuckey A, Suntharalingam J, Swietlik EM, Syrris P, Tait RC, Talks K, Tan RYY, Tate K, Taylor JM, Taylor JC, Thaventhiran JE, Themistocleous AC, Themistocleous AC, Thomas E, Thomas D, Thomas MJ, Thomas P, Thomson K, Thrasher AJ, Threadgold G, Thys C, Thys C, Tilly T, Tischkowitz M, Titterton C, Todd JA, Toh C-H, Tolhuis B, Tomlinson IP, Toshner M, Traylor M, Treacy C, Treadaway P, Trembath R, Tuna S, Turek W, Turro E, Twiss P, Vale T, Geet CV, Zuydam N, Vandekuilen M, Vandersteen AM, Vazquez-Lopez M, von Ziegenweidt J, Noordegraaf AV, Wagner A, Waisfisz Q, Walker SM, Walker N, Walter K, Ware JS, Watkins H, Watt C, Webster AR, Wedderburn L, Wei W, Welch SB, Wessels J, Westbury SK, Westwood J-P, Wharton J, Whitehorn D, Whitworth J, Wilkie AOM, Wilkins MR, Williamson C, Wilson BT, Wong EKS, Wood N, Wood Y, Woods CG, Woodward ER, Wort SJ, Worth A, Wright M, Yates K, Yong PFK, Young T, Yu P, Yu-Wai-Man P, Zlamalova E, Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 2020, 583, 96-102.
  • Lowes H, Kurzawa-Akanbi M, Pyle A, Hudson G. Post-mortem ventricular cerebrospinal fluid cell-free-mtDNA in neurodegenerative disease. Scientific Reports 2020, 10, 15253.
  • Hathazi D, Griffin H, Jennings MJ, Giunta M, Powell C, Pearce SF, Munro B, Wei W, Boczonadi V, Poulton J, Pyle A, Calabrese C, Gomez-Duran A, Schara U, Pitceathly RDS, Hanna MG, Joost K, Cotta A, Paim JF, Navarro MM, Duff J, Mattmann A, Chapman K, Servidei S, Della Marina A, Uusimaa J, Roos A, Mootha V, Hirano M, Tulinius M, Giri M, Hoffmann EP, Lochmuller H, DiMauro S, Minczuk M, Chinnery PF, Muller JS, Horvath R. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency. EMBO Journal 2020, 39(23), e10536.
  • 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.
  • Knuutinen O, Pyle A, Suo-Palosaari M, Duff J, Froukh T, Lehesjoki A-E, Kangas SM, Cassidy J, Maraqa L, Keski-Filppula R, Kokkonen H, Uusimaa J, Horvath R, Vieira P. Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype. Clinical Genetics 2020, 98(5), 493-498.
  • Noli L, Khorsandi SE, Pyle A, Giritharan G, Fogarty N, Capalbo A, Devito L, Jovanovic VM, Khurana P, Rosa H, Kolundzic N, Cvoro A, Niakan KK, Malik A, Foulk R, Heaton N, Ardawi MS, Chinnery PF, Ogilvie C, Khalaf Y, Ilic D. Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos. Stem Cells 2020, 38(3), 369-381.
  • Lowes H, Pyle A, Santibanez-Koref M, Hudson G. Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment. Molecular Neurodegeneration 2020, 15(1).
  • McMacken G, Lochmuller H, Bansagi B, Pyle A, Lochmuller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R. Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. Journal of Neurology 2020, 267(12), 3643-3649.
  • 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.
  • 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.
  • 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.
  • Lowes H, Pyle A, Duddy M, Hudson G. Cell-free mitochondrial DNA in progressive multiple sclerosis. Mitochondrion 2019, 46, 307-312.
  • Guyatt AL, Brennan RR, Burrows K, Guthrie PAI, Ascione R, Ring SM, Gaunt TR, Pyle A, Cordell HJ, Lawlor DA, Chinnery PF, Hudson G, Rodriguez S. A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts. Human Genomics 2019, 13, 6.
  • Floros VI, Pyle A, Dietmann S, Wei W, Tang WWC, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF. Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos. Nature Cell Biology 2018, 20, 144-151.
  • 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.
  • Widdrington JD, Gomez-Duran A, Pyle A, Ruchaud-Sparagano M-H, Scott J, Baudouin SV, Rostron AJ, Lovat PE, Chinnery PF, Simpson AJ. Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses. Frontiers in immunology 2018, 9, 2217.
  • 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.
  • Trifunov S, Pyle A, Valentino ML, Liguori R, Yu-Wai-Man P, Burté F, Duff J, Kleinle S, Diebold I, Rugolo M, Horvath R, Carelli V. Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells. Scientific Reports 2018, 8, 11682.
  • Bartsakoulia M, Pyle A, Troncoso-Chandia D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmuller H, Kleinle S, Chinnery PF, Grunert S, Kirschner J, Eisner V, Horvath R. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Human Molecular Genetics 2018, 27(7), 1186-1195.
  • 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.
  • Widdrington JD, Gomez-Duran A, Steyn JS, Pyle A, Ruchaud-Sparagano M-H, Scott J, Baudouin SV, Rostron AJ, Simpson J, Chinnery PF. Mitochondrial DNA depletion induces innate immune dysfunction rescued by IFN-γ. Journal of Allergy and Clinical Immunology 2017, 140(5), 1461-1464.e8.
  • Bury AG, Pyle A, Elson JL, Greaves L, Morris CM, Hudson G, Pienaar IS. Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease. Annals of Neurology 2017, 82(6), 1016-1021.
  • Burte F, Houghton D, Lowes H, Pyle A, Nesbitt S, Yarnall A, Yu-Wai-Man P, Burn DJ, Santibanez-Koref M, Hudson G. Metabolic profiling of Parkinson's disease and mild cognitive impairment. Movement Disorders 2017, 32(6), 927–932.
  • Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmuller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brustle O, Klopstock T, Mathews KD, Shy ME, De Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schols L, Nurnberg P, Zuchner S, Klockgether T, Ramirez A, Schule R. Hypomorphic mutations in POLR₃A are a frequent cause of sporadic and recessive spastic ataxia. Brain 2017, 140(6), 1561-1578.
  • Bansagi B, Griffin H, Whittaker RG, Antoniadi T, Evangelista T, Miller J, Greenslade M, Forester N, Duff J, Bradshaw A, Kleinle S, Boczonadi V, Steele H, Ramesh V, Franko E, Pyle A, Lochmuller H, Chinnery PF, Horvath R. Genetic heterogeneity of motor neuropathies. Neurology 2017, 88(13), 1226-1234.
  • 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.
  • Coxhead J, Kurzawa-Akanbi M, Hussain R, Pyle A, Chinnery P, Hudson G. Somatic mtDNA variation is an important component of Parkinson's disease. Neurobiology of Aging 2016, 38, 217.e1-217.e6.
  • Olsen RKJ, Konarikova E, Giancaspero TA, Mosegaard S, Boczonadi V, Matakovic L, Veauville-Merllie A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Moslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazza D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. American Journal of Human Genetics 2016, 98(6), 1130-1145.
  • Pyle A, Anugrha H, Kurzawa-Akanbi M, Yarnall A, Burn D, Hudson G. Reduced mitochondrial DNA copy number is a biomarker of Parkinson's disease. Neurobiology of Aging 2016, 38, 216.e7–216.e10.
  • 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.
  • Bansagi B, Lewis-Smith D, Pal E, Duff J, Griffin H, Pyle A, Müller JS, Rudas G, Aranyi Z, Lochmüller H, Chinnery PF, Horvath R. Phenotypic convergence of Menkes and Wilson disease. Neurology Genetics 2016, 2(6), e199.
  • Lewis-Smith DJ, Duff J, Pyle A, Griffin H, Polvikoski T, Birchall D, Horvath R, Chinnery PF. Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy. Neurology: Genetics 2016, 2(2), e110.
  • 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.
  • 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.
  • Keogh MJ, Kurzawa-Akanbi M, Griffin H, Douroudis K, Ayers KL, Hussein RI, Hudson G, Pyle A, Cordell HJ, Attems J, McKeith IG, O'Brien JT, Burn DJ, Morris CM, Thomas AJ, Chinnery PF. Exome sequencing in dementia with Lewy bodies. Translational Psychiatry 2016, 6, e728.
  • Hughes AJ, Steele HE, Pyle A, Hart Y, Quinton R, Chinnery PF. A Woman With Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems. JAMA Neurology 2016, 73(12), 1494-1495.
  • Daud D, Griffin H, Douroudis K, Kleinle S, Eglon G, Pyle A, Chinnery PF, Horvath R. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering. Journal of Neurology 2015, 262(7), 1673-1677.
  • Bansagi B, Griffin H, Ramesh V, Duff J, Pyle A, Chinnery PF, Horvath R. The p.Ser107Leu in BICD2 is a mutation ‘hot spot’ causing distal spinal muscular atrophy. Brain 2015, 138(11), e391.
  • Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Respiratory chain deficiency in nonmitochondrial disease. Neurology Genetics 2015, 1(1), e6.
  • Pyle A, Brennan R, Kurzawa-Akanbi M, Yarnall A, Thouin A, Mollenhauer B, Burn D, Chinnery PF, Hudson G. Reduced CSF mitochondrial DNA is a biomarker for early-stage Parkinson's disease. Annals of Neurology 2015, 78(6), 1000-1004.
  • Evangelista T, Bansagi B, Pyle A, Griffin H, Douroudis K, Polvikoski T, Antoniadi T, Bushby K, Straub V, Chinnery PF, Lochmuller H, Horvath R. Phenotypic variability of TRPV4 related neuropathies. Neuromuscular Disorders 2015, 25(6), 516-521.
  • Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stranecky V, Hartmannova H, Pristoupilova A, Hodanova K, Piherova L, Kuchar L, Baxova A, Chen R, Barsottini OGP, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK, Care4Rare Canada. Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications 2015, 6, 5614.
  • Keogh MJ, Steele H, Douroudis K, Pyle A, Duff J, Hussain R, Smertenko T, Griffin H, Santibanez-Koref M, Horvath R, Chinnery PF. Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia. Journal of Neurology 2015, 262(8), 1822-1827.
  • Pyle A, Hudson G, Wilson IJ, Coxhead J, Smertenko T, Herbert M, Santibanez-Koref M, Chinnery PF. Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans. PLoS Genetics 2015, 11(5), e1005040.
  • Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Exome sequencing in undiagnosed inherited and sporadic ataxias. Brain 2015, 138(2), 276-283.
  • 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.
  • Keogh MJ, Pyle A, Daud D, Griffin H, Douroudis K, Eglon G, Miller J, Horvath R, Chinnery PF. Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB. Neurology 2015, 84(17), 1818-1820.
  • 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.
  • 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.
  • 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.
  • Horvath R, Lewis-Smith D, Douroudis K, Duff J, Keogh M, Pyle A, Fletcher N, Chinnery PF. SCP2 mutations and neurodegeneration with brain iron accumulation. Neurology 2015, 85(21), 1909-1911.
  • 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.
  • Herrmann DN, Horvath R, Sowden JE, Gonzales M, Sanchez-Mejias A, Guan Z, Whittaker RG, Almodovar JL, Lane M, Bansagi B, Pyle A, Boczonadi V, Lochmuller H, Griffin H, Chinnery PE, Lloyd TE, Littleton JT, Zuchner S. Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy. American Journal of Human Genetics 2014, 95(3), 332-339.
  • 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.
  • 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.
  • Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R, Ventura DF, Moraes M, Moraes M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Polosa PL, Cantatore P, Carelli V. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy. Brain 2014, 137(2), 335-353.
  • 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.
  • 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.
  • Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nature Communications 2014, 5, 4287.
  • 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.
  • Guthrie G, Sitarz KS, Pyle A, Horvath R, Griffiths PG, Chinnery PF, Yu-Wai-Man P. Redefining Wolfram syndrome in the molecular Era. Mitochondrion 2013, 13(6), 902-902.
  • Pyle A, Griffin H, Duff J, Bennett S, Zwolinski S, Smertenko T, Yu-Wai-Man P, Santibanez-Koref M, Horvath R, Chinnery PF. Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization. Journal of Neurogenetics 2013, 27(4), 176-182.
  • Collerton J, Ashok D, Martin-Ruiz C, Pyle A, Hudson G, Yadegarfar M, Davies K, Jagger C, von Zglinicki T, Kirkwood T, Chinnery P. Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old. Neurobiology of Aging 2013, 34(12), 2889.e1-2889.e4.
  • Neeve VC, Pyle A, Boczonadi V, Gómez-Durán A, Griffin H, Santibanez-Koref M, Gaiser U, Bauer P, Tzschach A, Chinnery PF, Horvath R. Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. Mitochondrion 2013, 13(6), 743-748.
  • Boczonadi V, Smith PM, Pyle A, Gómez-Durán A, Schara U, Tulinius M, Chinnery PF, Horvath R. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency. Human Molecular Genetics 2013, 22(22), 4602-4615.
  • Pyle A, Griffin H, Yu-Wai-Man P, Duff J, Eglon G, Pickering-Brown S, Santibanez-Korev M, Horvath R, Chinnery PF. Prominent Sensorimotor Neuropathy Due to SACS Mutations Revealed by Whole-Exome Sequencing. Archives of Neurology 2012, 69(10), 1351-1354.
  • Raap AK, Tafrechi RSJ, van de Rijke FM, Pyle A, Wahlby C, Szuhai K, Ravelli RBG, de Coo RFM, Rajasimha HK, Nilsson M, Chinnery PF, Samuels DC, Janssen GMC. Non-Random mtDNA Segregation Patterns Indicate a Metastable Heteroplasmic Segregation Unit in m.3243A > G Cybrid Cells. PLoS One 2012, 7(12), e52080.
  • 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 R, Holinski Feder E, Neeve VC, Pyle A, Griffin H, Ashok D, Foley C, Hudson G, Rautenstrauss B, Nürnberg G, Nürnberg P, Kortler J, Neitzel B, Bäßmann I, Rahman T, Keavney B, Loughlin J, Hambleton S, Schoser B, Lochmüller H, Santibanez Koref M, Chinnery PF. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Movement Disorders 2012, 76(6), 789-793.
  • 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.
  • 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.
  • 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.
  • de Alwis N, Aithal G, Bugianesi E, Leathart J, Hudson G, Pyle A, Mowbray C, Henderson E, Burt AD, Chinnery PF, Day CP. Mitochondrial DNA does not contribute to the heritability of non-alcoholic fatty liver disease. Mitochondrion 2011, 11(1), 234-235.
  • Voets AM, van den Bosch BJ, Stassen AP, Hendrickx AT, Hellebrekers DM, Van Laer L, Van Eyken E, VanCamp G, Pyle A, Baudouin SV, Chinnery PF, Smeets HJ. Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution. Mitochondrion 2011, 11(6), 964-972.
  • Schara U, von Kleist-Retzow JC, Lainka E, Gerner P, Pyle A, Smith PM, Lochmuller H, Czermin B, Abicht A, Holinski-Feder E, Horvath R. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. Journal of Inherited Metabolic Disease 2011, 34(1), 197-201.
  • Pyle A, Burn DJ, Gordon C, Swan C, Chinnery PF, Baudouin SV. Fall in circulating mononuclear cell mitochondrial DNA content in human sepsis. Intensive Care Medicine 2010, 36(6), 956-962.
  • Seeger J, Schrank B, Pyle A, Stucka R, Lorcher U, Muller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmuller H, Horvath R. Clinical and neuropathological findings in patients with TACO1 mutations. Neuromuscular Disorders 2010, 20(11), 720-724.
  • 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.
  • Pyle A, Ibbett IM, Gordon C, Keers SM, Walker M, Chinnery PF, Baudouin SV. A common UCP2 polymorphism predisposes to stress hyperglycaemia in severe sepsis. Journal of Medical Genetics 2009, 46(11), 773-775.
  • 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.
  • Cree L, Patel S, Pyle A, Lynn S, Turnbull DM, Chinnery PF, Walker M. Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets. Diabetologia 2008, 51(8), 1440-1443.
  • De Alwis NM, Mowbray C, Pyle A, Henderson E, Leathart J, Aithal GP, Chinnery PF, Day CP. Mitochondrial DNA haplogroups associated with histological severity in non-alcoholic fatty liver disease (NAFLD). Journal of Hepatology 2007, 46, S265-S266.
  • Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF. Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation. Journal of Medical Genetics 2007, 44(12), 797-799.
  • 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.
  • Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort Jr R, Griffiths P, Yu Wai Man P, de Coo RFM, Horvath R, Zeviani M, Smeets HJT, Torroni A, Chinnery PF. Clinical expression of Leber heriditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. American Journal of Human Genetics 2007, 81(2), 228-233.
  • Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, Allcock LM, Davison J, Lewis SJ, Perry RH, Barker R, Burn DJ, Chinnery PF. Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Annals of Neurology 2005, 57(4), 564-567.
  • Baudouin S, Saunders D, Tiangyou W, Elson J, Poynter J, Pyle A, Keers S, Turnbull D, Howell N, Chinnery P. Mitochondrial DNA and survival after sepsis: A prospective study. Lancet 2005, 366(9503), 2118-2121.
  • Pollitt, Anderson LVB, Pogue R, Davison K, Pyle A, Bushby KMD. The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach. Neuromuscular Disorders 2001, 11(3), 287-296.
  • Pogue R, Anderson LVB, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KMD. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscular Disorders 2001, 11(1), 80-87.
  • Pollitt C, Anderson LVB, Pogue R, Davison K, Pyle A, Bushby KMD. Variations on a theme: a multi-disciplinary approach to diagnosis elucidates the phenotype of calpainopathy (LGMD2A). NEUROMUSCULAR DISORDERS (In Press)<br>(Article) 2000.

• Book Chapters

  • Deen D, Alston CL, Hudson G, Taylor RW, Pyle A. Genomic Strategies in Mitochondrial Diagnostics. In: Nicholls TJ; Uhler JP; Falkenberg M, ed. Mitochondrial DNA. New York: Humana Press, Inc, 2023, pp.397-425.
  • Bury AG, Robertson FM, Pyle A, Payne BAI, Hudson G. The Isolation and Deep Sequencing of Mitochondrial DNA. In: Methods in Molecular Biology. Humana, New York: Humana Press Inc, 2021, pp.433-447.

• Conference Proceedings (inc. Abstracts)

  • Bansagi B, Herczegfalvi A, Luczay A, Szabo A, Pyle A, Griffin H, Chinnery PF, Lochmuller H, Karcagi V, Horvath R. STAT5B Mutation as a Cause of Growth Retardation Associated with Neuromuscular Symptoms. In: 2015 Peripheral Nerve Society Biennial Meeting. 2015, Quebec, Canada: Wiley-Blackwell Published, Inc.
  • Sitarz KS, Yu-Wai-Man P, Pyle A, Stewart JD, Rautenstrauss B, Seeman P, Reilly MM, Horvath R, Chinnery PF. MFN2 mutations cause compensatory mitochondrial DNA proliferation. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
  • 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.
  • Neeve VCM, Pyle A, Holinski-Feder E, Griffin H, Ashok D, Foley C, Hudson G, Rautensstrauss B, Lochmuller H, Santibanez-Koref M, Chinnery PF, Horvath R. A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy. In: United Kingdom Neuromuscular Translational Research Conference. 2012, Newcastle upon Tyne, UK: Elsevier Ltd.
  • 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.
  • Pyle A, Tiangyou W, Keers S, Lambert C, Burn D, Foltynie T, Barker R, Chinnery P. Mitochondrial DNA variation and Parkinson disease. In: Biochimica et Biophysica Acta: Bioenergetics. 6th European Meeting on Mitochondrial Pathology (Euromit 6). 2004, Nijmegen, Netherlands: Elsevier BV.
  • Pogue R, Pyle A, Harrison R, Anderson LVB, Curtis A, Bushby K. Strategy for mutation analysis in the autosomal recessive limb girdle muscular dystrophies. In: Journal of Medical Genetics. 1999, BMJ Group.
  • Pollitt C, Anderson LVB, Bushby KMD, Pogue R, Pyle A. Definition of the phenotype in limb-girdle muscular dystrophy (LGMD) 2A, (calpainopathy). In: Journal of Medical Genetics. 1999, BMJ Publishing Group.

• Editorial

  • Pfeffer G, Pyle A, Griffin H, Miller J, Wilson V, Turnbull L, Fawcett K, Sims D, Eglon G, Hadjivassiliou M, Horvath R, Nemeth A, Chinnery PF. SPG7 mutations are a common cause of undiagnosed ataxia. Neurology 2015, 84(11), 1174-1177.

• Letters

  • Lowes H, Robertson F, Pyle A, Hussain R, Coxhead J, Yarnall AJ, Burn D, Payne BAI, Santibanez-Koref M, Hudson G. The Human Coronavirus Receptor ANPEP (CD13) Is Overexpressed in Parkinson's Disease. Movement Disorders 2020, 35(12), 2134-2136.
  • Pyle A, Lowes H, Brennan R, Kurzawa-Akanbi M, Yarnall A, Burn D, Hudson G. Reduced Mitochondrial DNA Is Not a Biomarker of Depression in Parkinson's Disease. Movement Disorders 2016, 31(12), 1923-1924.
  • Pyle A, Griffin H, Keogh MJ, Horvath R, Chinnery PF. Reply: Evaluation of exome sequencing variation in undiagnosed ataxias. Brain 2015, 138, 1-2.
  • Griffin H, Pyle A, Chinnery PF. Increased Yield of Exome Sequencing by Off-Target Mitochondrial DNA Analysis. Annals of Neurology 2015, 77(3), 553-553.
  • Pfeffer G, Griffin H, Pyle A, Horvath R, Chinnery PF. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2014, 137(4), 1-2.
  • Pfeffer G, Chinnery PF. Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain. Brain 2014, 137(6), 1-2.
  • Yu-Wai-Man P, Pyle A, Griffin H, Santibanez-Korev M, Horvath R, Chinnery PF. Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes. British Journal of Ophthalmology 2014, 98(5), 711-713.
  • Talim B, Pyle A, Griffin H, Topaloglu H, Tokatli A, Keogh MJ, Santibanez-Koref M, Chinnery PF, Horvath R. Multisystem fatal infantile disease caused by a novel homozygous EARS₂ mutation. Brain 2013, 136(2), e228.
  • Sitarz KS, Yu-Wai-Man P, Pyle A, Stewart JD, Rautenstrauss B, Seeman P, Reilly MM, Horvath R, Chinnery PF. MFN2 mutations cause compensatory mitochondrial DNA proliferation. Brain 2012, 135(8), e219.
  • Pyle A, Horvath R, Chinnery PF. Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing Reply. Archives of Neurology 2012, 69(12), 1661-1662.
  • Beetz C, Zuchner S, Ashley-Koch A, Auer-Grumbach M, Byrne P, Chinnery PF, Hutchinson M, McDermott CJ, Meijer IA, Nygren AOH, Pericak-Vance M, Pyle A, Rouleau GA, Schickel J, Shaw PJ, Deufel T. Linkage to a known gene but no mutation identified: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. Human Mutation 2007, 28(7), 739-740.
  • Kent L, Lambert C, Pyle A, Elliott H, Wheelwright S, Baron-Cohen S, Chinnery PF. The Mitochondrial DNA A3243A>G Mutation Must Be An Infrequent Cause Of Asperger Syndrome. Journal of Pediatrics 2006, 149(2), 280-280.

• Notes

  • Floros VI, Pyle A, Dietmann S, Wei W, Tang WWC, Irie N, Payne B, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M, Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF. Author Correction: Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos (Nature Cell Biology, (2018), 20, 2, (144-151), 10.1038/s41556-017-0017-8). Nature Cell Biology 2023, 25, 194.
  • 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.

• Reviews

  • Tang JX, Pyle A, Taylor RW, Olahova M. Interrogating mitochondrial biology and disease using CRISPR/Cas9 gene editing. Genes 2021, 12(10), 1604.
  • 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.