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Douglass Turnbull

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

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Mahad D J; Ziabreva I; Campbell G; Laulund F; Murphy J L; Reeve A K; Greaves L; Smith K J; Turnbull D M
Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells.
O'Rourke Killian; Buddles Mark R; Farrell Michael; Howley Rachel; Sukuraman Sunita; Connolly Sean; Turnbull Douglass M; Hutchinson Michael; Taylor Robert W
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
Ogundare Olumide; Jumma Odai; Turnbull Douglass M; Woywodt Alexander
Searching for the needle in the Haystacks.

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All Publications

2009: Mahad D J; Ziabreva I; Campbell G; Laulund F; Murphy J L; Reeve A K; Greaves L; Smith K J; Turnbull D M
Detection of cytochrome c oxidase activity and mitochondrial proteins in single cells.
Journal of neuroscience methods 2009;184(2):310-9.
2009: O'Rourke Killian; Buddles Mark R; Farrell Michael; Howley Rachel; Sukuraman Sunita; Connolly Sean; Turnbull Douglass M; Hutchinson Michael; Taylor Robert W
Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation.
Muscle & nerve 2009;40(4):648-51.
2009: Ogundare Olumide; Jumma Odai; Turnbull Douglass M; Woywodt Alexander
Searching for the needle in the Haystacks.
Lancet 2009;374(9692):850.
2009: Wright Alan F; Murphy Michael P; Turnbull Douglass M
Do organellar genomes function as long-term redox damage sensors?
Trends in genetics : TIG 2009;25(6):253-61.
2009: Greaves Laura C; Mathers John C; Taylor Robert W; Turnbull Douglass M
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.
2009: Aitken H; Gorman G; McFarland R; Roberts M; Taylor R W; Turnbull D M
Clinical reasoning: Blurred vision and dancing feet: restless legs syndrome presenting in mitochondrial disease.
Neurology 2009;72(18):e86-90.
2009: Mahad Don J; Ziabreva Iryna; Campbell Graham; Lax Nichola; White Katherine; Hanson Peter S; Lassmann Hans; Turnbull Douglass M
Mitochondrial changes within axons in multiple sclerosis.
Brain : a journal of neurology 2009;132(Pt 5):1161-74.
2009: Blakely Emma L; Trip S Anand; Swalwell Helen; He Langping; Wren Damian R; Rich Philip; Turnbull Douglass M; Omer Salah E; Taylor Robert W
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.
Archives of neurology 2009;66(3):399-402.
2009: Stewart J D; Tennant S; Powell H; Pyle A; Blakely E L; He L; Hudson G; Roberts M; du Plessis D; Gow D; Mewasingh L D; Hanna M G; Omer S; Morris A A; Roxburgh R; Livingston J H; McFarland R; Turnbull D M; Chinnery P F; Taylor R W
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
Journal of medical genetics 2009;46(3):209-14.
2009: Gutierrez-Gonzalez Lydia; Deheragoda Maesha; Elia George; Leedham Simon J; Shankar Arjun; Imber Charles; Jankowski Janusz A; Turnbull Douglass M; Novelli Marco; Wright Nicholas A; McDonald Stuart A C
Analysis of the clonal architecture of the human small intestinal epithelium establishes a common stem cell for all lineages and reveals a mechanism for the fixation and spread of mutations.
The Journal of pathology 2009;217(4):489-96.
2009: Whittaker R G; Blackwood J K; Alston C L; Blakely E L; Elson J L; McFarland R; Chinnery P F; Turnbull D M; Taylor R W
Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.
Neurology 2009;72(6):568-9.
2009: McFarland R; Turnbull D M
Batteries not included: diagnosis and management of mitochondrial disease.
Journal of internal medicine 2009;265(2):210-28.
2009: Whittaker R G; Turnbull D M
A diagnostic tattoo.
Clinical genetics 2009;75(1):37-8.
2008: Stewart J D; Hudson G; Yu-Wai-Man P; Blakeley E L; He L; Horvath R; Maddison P; Wright A; Griffiths P G; Turnbull D M; Taylor R W; Chinnery P F
OPA1 in multiple mitochondrial DNA deletion disorders.
Neurology 2008;71(22):1829-31.
2008: Murphy Julie L; Blakely Emma L; Schaefer Andrew M; He Langping; Wyrick Phil; Haller Ronald G; Taylor Robert W; Turnbull Douglass M; Taivassalo Tanja
Resistance training in patients with single, large-scale deletions of mitochondrial DNA.
Brain : a journal of neurology 2008;131(Pt 11):2832-40.
2008: Swalwell Helen; Blakely Emma L; Sutton Ruth; Tonska Kasia; Elstner Matthias; He Langping; Taivassalo Tanja; Burns Dennis K; Turnbull Douglass M; Haller Ronald G; Davidson Mercy M; Taylor Robert W
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 : EJHG 2008;16(10):1265-74.
2008: Cree L M; Patel S K; Pyle A; Lynn S; Turnbull D M; Chinnery P F; Walker M
Age-related decline in mitochondrial DNA copy number in isolated human pancreatic islets.
Diabetologia 2008;51(8):1440-3.
2008: Blakely Emma; He Langping; Gardner Julie L; Hudson Gavin; Walter John; Hughes Imelda; Turnbull Douglass M; Taylor Robert W
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy.
Neuromuscular disorders : NMD 2008;18(7):557-60.
2008: Rorbach Joanna; Yusoff Abdul Aziz; Tuppen Helen; Abg-Kamaludin Dyg P; Chrzanowska-Lightowlers Zofia M A; Taylor Robert W; Turnbull Douglass M; McFarland Robert; Lightowlers Robert N
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):3065-74.
2008: Betts J; Barron M J; Needham S J; Schaefer A M; Taylor R W; Turnbull D M
Gastrointestinal tract involvement associated with the 3243A>G mitochondrial DNA mutation.
Neurology 2008;70(15):1290-2.
2008: McDonald Stuart A C; Greaves Laura C; Gutierrez-Gonzalez Lydia; Rodriguez-Justo Manuel; Deheragoda Maesha; Leedham Simon J; Taylor Robert W; Lee Chung Yin; Preston Sean L; Lovell Matthew; Hunt Toby; Elia George; Oukrif Dahmane; Harrison Rebecca; Novelli Marco R; Mitchell Ian; Stoker David L; Turnbull Douglass M; Jankowski Janusz A Z; Wright Nicholas A
Mechanisms of field cancerization in the human stomach: the expansion and spread of mutated gastric stem cells.
Gastroenterology 2008;134(2):500-10.
2008: Hudson Gavin; Amati-Bonneau Patrizia; Blakely Emma L; Stewart Joanna D; He Langping; Schaefer Andrew M; Griffiths Philip G; Ahlqvist Kati; Suomalainen Anu; Reynier Pascal; McFarland Robert; Turnbull Douglass M; Chinnery Patrick F; Taylor Robert W
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
Brain : a journal of neurology 2008;131(Pt 2):329-37.
2008: Reeve Amy K; Krishnan Kim J; Elson Joanna L; Morris Christopher M; Bender Andreas; Lightowlers Robert N; Turnbull Douglass M
Nature of mitochondrial DNA deletions in substantia nigra neurons.
American journal of human genetics 2008;82(1):228-35.
2008: Brown Audrey E; Elstner Matthias; Yeaman Stephen J; Turnbull Douglass M; Walker Mark
Does impaired mitochondrial function affect insulin signaling and action in cultured human skeletal muscle cells?
American journal of physiology. Endocrinology and metabolism 2008;294(1):E97-102.
2008: Schaefer Andrew M; McFarland Robert; Blakely Emma L; He Langping; Whittaker Roger G; Taylor Robert W; Chinnery Patrick F; Turnbull Douglass M
Prevalence of mitochondrial DNA disease in adults.
Annals of neurology 2008;63(1):35-9.
2008: McFarland Robert; Swalwell Helen; Blakely Emma L; He Langping; Groen Emma J; Turnbull Douglass M; Bushby Kate M; Taylor Robert W
The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy.
Neuromuscular disorders : NMD 2008;18(1):63-7.
2007: Krishnan Kim J; Bender Andreas; Taylor Robert W; Turnbull Douglass M
A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells.
Analytical biochemistry 2007;370(1):127-9.
2007: Vondracek Petr; Hermanova Marketa; Vodickova Kristina; Fajkusova Lenka; Blakely Emma L; He Langping; Turnbull Douglass M; Taylor Robert W; Tajsharghi Homa
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 : EJPN : official journal of the European Paediatric Neurology Society 2007;11(6):381-4.
2007: Whittaker R G; Schaefer A M; McFarland R; Taylor R W; Walker M; Turnbull D M
Prevalence and progression of diabetes in mitochondrial disease.
Diabetologia 2007;50(10):2085-9.
2007: Howell Neil; Elson Joanna L; Howell Corinna; Turnbull Douglass M
Relative rates of evolution in the coding and control regions of African mtDNAs.
Molecular biology and evolution 2007;24(10):2213-21.
2007: Whittaker Roger G; Schaefer Andrew M; McFarland Robert; Taylor Robert W; Walker Mark; Turnbull Douglass M
Diabetes and deafness: is it sufficient to screen for the mitochondrial 3243A>G mutation alone?
Diabetes care 2007;30(9):2238-9.
2007: Blakely Emma L; Swalwell Helen; Petty Richard K H; McFarland Robert; Turnbull Douglass M; Taylor Robert W
Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation.
Journal of neurology 2007;254(9):1283-5.
2007: McFarland R; Chinnery P F; Blakely E L; Schaefer A M; Morris A A M; Foster S M; Tuppen H A L; Ramesh V; Dorman P J; Turnbull D M; Taylor R W
Homoplasmy, heteroplasmy, and mitochondrial dystonia.
Neurology 2007;69(9):911-6.
2007: Olsen Rikke K J; Olpin Simon E; Andresen Brage S; Miedzybrodzka Zofia H; Pourfarzam Morteza; Merinero Begoña; Frerman Frank E; Beresford Michael W; Dean John C S; Cornelius Nanna; Andersen Oluf; Oldfors Anders; Holme Elisabeth; Gregersen Niels; Turnbull Douglass M; Morris Andrew A M
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Brain : a journal of neurology 2007;130(Pt 8):2045-54.
2007: Whittaker Roger G; Schaefer Andrew M; Taylor Robert W; Turnbull Douglass M
Differential diagnosis in ptosis and ophthalmoplegia: mitochondrial disease or myasthenia?
Journal of neurology 2007;254(8):1138-9.
2007: Taylor Robert W; Turnbull Douglass M
Mitochondrial DNA transcription: regulating the power supply.
Cell 2007;130(2):211-3.
2007: Gardner Julie L; Craven Lyndsey; Turnbull Douglass M; Taylor Robert W
Experimental strategies towards treating mitochondrial DNA disorders.
Bioscience reports 2007;27(1-3):139-50.
2007: Elson Joanna L; Turnbull Douglass M; Taylor Robert W
Testing the adaptive selection of human mtDNA haplogroups: an experimental bioenergetics approach.
The Biochemical journal 2007;404(2):e3-5.
2007: Deschauer M; Tennant S; Rokicka A; He L; Kraya T; Turnbull D M; Zierz S; Taylor R W
MELAS associated with mutations in the POLG1 gene.
Neurology 2007;68(20):1741-2.
2007: Krishnan Kim J; Greaves Laura C; Reeve Amy K; Turnbull Douglass M
Mitochondrial DNA mutations and aging.
Annals of the New York Academy of Sciences 2007;1100():227-40.
2007: Hudson Gavin; Schaefer Andrew M; Taylor Robert W; Tiangyou Watcharee; Gibson Andrew; Venables Graham; Griffiths Philip; Burn David J; Turnbull Douglass M; Chinnery Patrick F
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):553-7.
2007: Phoenix Catherine; Taylor Geoffrey A; Hartley Judith; Nixon Hannah; Ince Paul G; Shaw Pamela J; Turnbull Douglass M; Taylor Robert W
Investigation of the mitochondrial genome in patients with atypical motor neuron disease.
Journal of neurology 2007;254(4):482-7.
2007: Kirby Denise M; Thorburn David R; Turnbull Douglass M; Taylor Robert W
Biochemical assays of respiratory chain complex activity.
Methods in cell biology 2007;80():93-119.
2007: McFarland R; Taylor R W; Turnbull D M
Mitochondrial disease--its impact, etiology, and pathology.
Current topics in developmental biology 2007;77():113-55.
2006: Phoenix C; Schaefer A M; Elson J L; Morava E; Bugiani M; Uziel G; Smeitink J A; Turnbull D M; McFarland R
A scale to monitor progression and treatment of mitochondrial disease in children.
Neuromuscular disorders : NMD 2006;16(12):814-20.
2006: Taivassalo Tanja; Gardner Julie L; Taylor Robert W; Schaefer Andrew M; Newman Jane; Barron Martin J; Haller Ronald G; Turnbull Douglass M
Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions.
Brain : a journal of neurology 2006;129(Pt 12):3391-401.
2006: Gupta Samir; Wyllie Jonathan; Wright Chris; Turnbull Douglass M; Taylor Robert W
Mitochondrial respiratory chain defects and developmental diaphragmatic dysfunction in the neonatal period.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2006;19(9):587-9.
2006: Durham Steve E; Brown Denise T; Turnbull Douglass M; Chinnery Patrick F
Progressive depletion of mtDNA in mitochondrial myopathy.
Neurology 2006;67(3):502-4.
2006: Betts J; Jaros E; Perry R H; Schaefer A M; Taylor R W; Abdel-All Z; Lightowlers R N; Turnbull D M
Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement.
Neuropathology and applied neurobiology 2006;32(4):359-73.
2006: Brown D T; Herbert M; Lamb V K; Chinnery P F; Taylor R W; Lightowlers R N; Craven L; Cree L; Gardner J L; Turnbull D M
Transmission of mitochondrial DNA disorders: possibilities for the future.
Lancet 2006;368(9529):87-9.
2006: Schaefer A M; Phoenix C; Elson J L; McFarland R; Chinnery P F; Turnbull D M
Mitochondrial disease in adults: a scale to monitor progression and treatment.
Neurology 2006;66(12):1932-4.
2006: Longley Matthew J; Clark Susanna; Yu Wai Man Cynthia; Hudson Gavin; Durham Steve E; Taylor Robert W; Nightingale Simon; Turnbull Douglass M; Copeland William C; Chinnery Patrick F
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
American journal of human genetics 2006;78(6):1026-34.
2006: Hudson G; Deschauer M; Taylor R W; Hanna M G; Fialho D; Schaefer A M; He L-P; Blakely E; Turnbull D M; Chinnery P F
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Neurology 2006;66(9):1439-41.
2006: Bender Andreas; Krishnan Kim J; Morris Christopher M; Taylor Geoffrey A; Reeve Amy K; Perry Robert H; Jaros Evelyn; Hersheson Joshua S; Betts Joanne; Klopstock Thomas; Taylor Robert W; Turnbull Douglass M
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease.
Nature genetics 2006;38(5):515-7.
2006: McDonald Stuart A C; Preston Sean L; Greaves Laura C; Leedham Simon J; Lovell Matthew A; Jankowski Janusz A Z; Turnbull Douglass M; Wright Nicholas A
Clonal expansion in the human gut: mitochondrial DNA mutations show us the way.
Cell cycle (Georgetown, Tex.) 2006;5(8):808-11.
2006: Beresford Michael W; Pourfarzam Morteza; Turnbull Doug M; Davidson Joyce E
So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
Neuromuscular disorders : NMD 2006;16(4):269-73.
2006: Elson Joanna L; Herrnstadt Corinna; Preston Gwen; Thal Leon; Morris Christopher M; Edwardson J A; Beal M Flint; Turnbull Douglass M; Howell Neil
Does the mitochondrial genome play a role in the etiology of Alzheimer's disease?
Human genetics 2006;119(3):241-54.
2006: Blakely Emma L; Rennie Katherine J; Jones Linda; Elstner Mattias; Chrzanowska-Lightowlers Zofia M A; White Christopher B; Shield Julian P H; Pilz Daniela T; Turnbull Douglass M; Poulton Joanna; Taylor Robert W
Sporadic intragenic inversion of the mitochondrial DNA MTND1 gene causing fatal infantile lactic acidosis.
Pediatric research 2006;59(3):440-4.
2006: Borthwick Gillian M; Taylor Robert W; Walls Timothy J; Tonska Kasia; Taylor Geoffrey A; Shaw Pamela J; Ince Paul G; Turnbull Douglass M
Motor neuron disease in a patient with a mitochondrial tRNAIle mutation.
Annals of neurology 2006;59(3):570-4.
2006: Swalwell H; Deschauer M; Hartl H; Strauss M; Turnbull D M; Zierz S; Taylor R W
Pure myopathy associated with a novel mitochondrial tRNA gene mutation.
Neurology 2006;66(3):447-9.
2006: Wilding Craig S; Cadwell Kevin; Tawn E Janet; Relton Caroline L; Taylor Geoffrey A; Chinnery Patrick F; Turnbull Douglass M
Mitochondrial DNA mutations in individuals occupationally exposed to ionizing radiation.
Radiation research 2006;165(2):202-7.
2006: Greaves Laura C; Preston Sean L; Tadrous Paul J; Taylor Robert W; Barron Martin J; Oukrif Dahmane; Leedham Simon J; Deheragoda Maesha; Sasieni Peter; Novelli Marco R; Jankowski Janusz A Z; Turnbull Douglass M; Wright Nicholas A; McDonald Stuart A C
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):714-9.
2006: Smeitink Jan A; Zeviani Massimo; Turnbull Douglass M; Jacobs Howard T
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders.
Cell metabolism 2006;3(1):9-13.
2006: Pye Deborah; Kyriakouli Dimitra S; Taylor Geoffrey A; Johnson Riem; Elstner Matthias; Meunier Brigitte; Chrzanowska-Lightowlers Zofia M A; Taylor Robert W; Turnbull Douglass M; Lightowlers Robert N
Production of transmitochondrial cybrids containing naturally occurring pathogenic mtDNA variants.
Nucleic acids research 2006;34(13):e95.
2005: Baudouin Simon V; Saunders David; Tiangyou Watcharee; Elson Joanna L; Poynter Jayne; Pyle Angela; Keers Sharon; Turnbull Douglass M; Howell Neil; Chinnery Patrick F
Mitochondrial DNA and survival after sepsis: a prospective study.
Lancet 2005;366(9503):2118-21.
2005: Barron M J; Chinnery P F; Howel D; Blakely E L; Schaefer A M; Taylor R W; Turnbull D M
Cytochrome c oxidase deficient muscle fibres: substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy.
Neuromuscular disorders : NMD 2005;15(11):768-74.
2005: Howell Neil; Elson Joanna L; Chinnery Patrick F; Turnbull Douglass M
mtDNA mutations and common neurodegenerative disorders.
Trends in genetics : TIG 2005;21(11):583-6.
2005: Walker M; Taylor R W; Turnbull D M
Mitochondrial diabetes.
Diabetic medicine : a journal of the British Diabetic Association 2005;22 Suppl 4():18-20.
2005: Blakely Emma L; Mitchell Anna L; Fisher Nicholas; Meunier Brigitte; Nijtmans Leo G; Schaefer Andrew M; Jackson Margaret J; Turnbull Douglass M; Taylor Robert W
A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast.
The FEBS journal 2005;272(14):3583-92.
2005: Schaefer Andrew M; Blakely Emma L; Griffiths Philip G; Turnbull Douglass M; Taylor Robert W
Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis.
Muscle & nerve 2005;32(1):104-7.
2005: Jacobs Howard T; Turnbull Douglass M
Nuclear genes and mitochondrial translation: a new class of genetic disease.
Trends in genetics : TIG 2005;21(6):312-4.
2005: Taylor Robert W; Turnbull Doug M
Mitochondrial DNA mutations in human disease.
Nature reviews. Genetics 2005;6(5):389-402.
2005: Blakely Emma L; de Silva Rajith; King Andrew; Schwarzer Verena; Harrower Tim; Dawidek Gervase; Turnbull Douglass M; Taylor Robert W
LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
European journal of human genetics : EJHG 2005;13(5):623-7.
2005: Howell Neil; Kubacka Iwona; Keers Sharon M; Turnbull Douglass M; Chinnery Patrick F
Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree.
Human genetics 2005;116(1-2):28-32.
2004: Smith Paul M; Ross Günther F; Taylor Robert W; Turnbull Douglass M; Lightowlers Robert N
Strategies for treating disorders of the mitochondrial genome.
Biochimica et biophysica acta 2004;1659(2-3):232-9.
2004: Schaefer Andrew M; Taylor Robert W; Turnbull Douglass M; Chinnery Patrick F
The epidemiology of mitochondrial disorders--past, present and future.
Biochimica et biophysica acta 2004;1659(2-3):115-20.
2004: McFarland Robert; Elson Joanna L; Taylor Robert W; Howell Neil; Turnbull Douglass M
Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough.
Trends in genetics : TIG 2004;20(12):591-6.
2004: Kirby D M; McFarland R; Ohtake A; Dunning C; Ryan M T; Wilson C; Ketteridge D; Turnbull D M; Thorburn D R; Taylor R W
Mutations of the mitochondrial ND1 gene as a cause of MELAS.
Journal of medical genetics 2004;41(10):784-9.
2004: Blakely Emma L; Poulton Joanna; Pike Michael; Wojnarowska Fenella; Turnbull Douglass M; McFarland Robert; Taylor Robert W
Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation.
Journal of the neurological sciences 2004;225(1-2):99-103.
2004: Howell Neil; Elson Joanna L; Turnbull D M; Herrnstadt Corinna
African Haplogroup L mtDNA sequences show violations of clock-like evolution.
Molecular biology and evolution 2004;21(10):1843-54.
2004: McDonnell Martina T; Schaefer Andrew M; Blakely Emma L; McFarland Robert; Chinnery Patrick F; Turnbull Douglass M; Taylor Robert W
Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.
European journal of human genetics : EJHG 2004;12(9):778-81.
2004: Chinnery Patrick F; DiMauro Salvatore; Shanske Sara; Schon Eric A; Zeviani Massimo; Mariotti Caterina; Carrara Fanco; Lombes Anne; Laforet Pascal; Ogier Helène; Jaksch Michaela; Lochmüller Hanns; Horvath Rita; Deschauer Marcus; Thorburn David R; Bindoff Laurence A; Poulton Joanna; Taylor Robert W; Matthews John N S; Turnbull Douglass M
Risk of developing a mitochondrial DNA deletion disorder.
Lancet 2004;364(9434):592-6.
2004: Bidooki Seyed; Jackson Margaret J; Johnson Margaret A; Chrzanowska-Lightowlers Zofia M A; Taylor Robert W; Venables Graham; Lightowlers Robert N; Turnbull Douglass M; Bindoff Laurence A
Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene.
Neuromuscular disorders : NMD 2004;14(7):417-20.
2004: Maniura-Weber Katharina; Taylor Robert W; Johnson Margaret A; Chrzanowska-Lightowlers Zofia; Morris Andrew A M; Charlton Charles P J; Turnbull Douglass M; Bindoff Laurence A
A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.
European journal of human genetics : EJHG 2004;12(6):509-12.
2004: Pye Deborah; Watt Diana J; Walker Chris; Lightowlers Robert N; Turnbull Douglass M
Identification of the RAG-1 as a suitable mouse model for mitochondrial DNA disease.
Neuromuscular disorders : NMD 2004;14(5):329-36.
2004: Taylor R W; Schaefer A M; McDonnell M T; Petty R K H; Thomas A M; Blakely E L; Hayes C M; McFarland R; Turnbull D M
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
Neurology 2004;62(8):1420-3.
2004: Man P Y W; Howell N; Mackey D A; Nørby S; Rosenberg T; Turnbull D M; Chinnery P F
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees.
Journal of medical genetics 2004;41(4):e41.
2004: McFarland Robert; Schaefer Andrew M; Gardner Julie L; Lynn Stephen; Hayes Christine M; Barron Martin J; Walker Mark; Chinnery Patrick F; Taylor Robert W; Turnbull Douglass M
Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.
Annals of neurology 2004;55(4):478-84.
2004: Taylor Robert W; Schaefer Andrew M; Barron Martin J; McFarland Robert; Turnbull Douglass M
The diagnosis of mitochondrial muscle disease.
Neuromuscular disorders : NMD 2004;14(4):237-45.
2004: Betts Joanne; Lightowlers Robert N; Turnbull Douglass M
Neuropathological aspects of mitochondrial DNA disease.
Neurochemical research 2004;29(3):505-11.
2004: Blakely E L; He L; Taylor R W; Chinnery P F; Lightowlers R N; Schaefer A M; Turnbull D M
Mitochondrial DNA deletion in "identical" twin brothers.
Journal of medical genetics 2004;41(2):e19.
2004: McFarland Robert; Taylor Robert W; Chinnery Patrick F; Howell Neil; Turnbull Douglass M
A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.
Neuromuscular disorders : NMD 2004;14(2):162-6.
2004: Elson J L; Turnbull D M; Howell Neil
Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection.
American journal of human genetics 2004;74(2):229-38.
2004: McFarland Robert; Kirby Denise M; Fowler Kerry J; Ohtake Akira; Ryan Michael T; Amor David J; Fletcher Janice M; Dixon Joanne W; Collins Felicity A; Turnbull Douglass M; Taylor Robert W; Thorburn David R
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.
2003: Taylor Robert W; Barron Martin J; Borthwick Gillian M; Gospel Amy; Chinnery Patrick F; Samuels David C; Taylor Geoffrey A; Plusa Stefan M; Needham Stephanie J; Greaves Laura C; Kirkwood Thomas B L; Turnbull Douglass M
Mitochondrial DNA mutations in human colonic crypt stem cells.
The Journal of clinical investigation 2003;112(9):1351-60.
2003: McGregor Alistair; Smith Paul M; Ross Günther F; Taylor Robert W; Turnbull Douglass M; Lightowlers Robert N
Bridging PNAs can bind preferentially to a deleted mitochondrial DNA template but replication by mitochondrial DNA polymerase gamma in vitro is not impaired.
Biochimica et biophysica acta 2003;1629(1-3):73-83.
2003: Taylor Robert W; McDonnell Martina T; Blakely Emma L; Chinnery Patrick F; Taylor Geoffrey A; Howell Neil; Zeviani Massimo; Briem Egill; Carrara Franco; Turnbull Douglass M
Genotypes from patients indicate no paternal mitochondrial DNA contribution.
Annals of neurology 2003;54(4):521-4.
2003: Ross Günther F; Smith Paul M; McGregor Alistair; Turnbull Douglass M; Lightowlers Robert N
Synthesis of trifunctional PNA-benzophenone derivatives for mitochondrial targeting, selective DNA binding, and photo-cross-linking.
Bioconjugate chemistry 2003;14(5):962-6.
2003: Deschauer Marcus; Kiefer Reinhard; Blakely Emma L; He Langping; Zierz Stephan; Turnbull Douglass M; Taylor Robert W
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.
Neuromuscular disorders : NMD 2003;13(7-8):568-72.
2003: Taylor R W; Jobling M S; Turnbull D M; Chinnery P F
Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy.
Journal of medical genetics 2003;40(7):e85.
2003: Chinnery P F; Howel D; Turnbull D M; Johnson M A
Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres.
Journal of the neurological sciences 2003;211(1-2):63-6.
2003: Deschauer Marcus; Chrzanowska-Lightowlers Zofia M A; Biekmann Eckhard; Pourfarzam Morteza; Taylor Robert W; Turnbull Douglass M; Zierz Stephan
A splice junction mutation in muscle carnitine palmitoyltransferase II deficiency.
Molecular genetics and metabolism 2003;79(2):124-8.
2003: Taylor Robert W; Giordano Carla; Davidson Mercy M; d'Amati Giulia; Bain Hugh; Hayes Christine M; Leonard Helen; Barron Martin J; Casali Carlo; Santorelli Filippo M; Hirano Michio; Lightowlers Robert N; DiMauro Salvatore; Turnbull Douglass M
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):1786-96.
2003: Deschauer M; Bamberg C; Claus D; Zierz S; Turnbull D M; Taylor R W
Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.
Neurology 2003;60(8):1357-9.
2003: Man P Y W; Morris C M; Zeviani M; Carrara F; Turnbull D M; Chinnery P F
The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy.
Journal of medical genetics 2003;40(4):e41.
2003: Wardell Theresa M; Ferguson Elaine; Chinnery Patrick F; Borthwick Gillian M; Taylor Robert W; Jackson Graham; Craft Alan; Lightowlers Robert N; Howell Neil; Turnbull Douglass M
Changes in the human mitochondrial genome after treatment of malignant disease.
Mutation research 2003;525(1-2):19-27.
2003: McDermott C J; Taylor R W; Hayes C; Johnson M; Bushby K M D; Turnbull D M; Shaw P J
Investigation of mitochondrial function in hereditary spastic paraparesis.
Neuroreport 2003;14(3):485-8.
2003: Howell Neil; Smejkal Christy Bogolin; Mackey D A; Chinnery P F; Turnbull D M; Herrnstadt Corinna
The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates.
American journal of human genetics 2003;72(3):659-70.
2003: Lynn S; Borthwick G M; Charnley R M; Walker M; Turnbull D M
Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells.
Diabetologia 2003;46(2):296-9.
2003: Man P Y W; Griffiths P G; Brown D T; Howell N; Turnbull D M; Chinnery P F
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
American journal of human genetics 2003;72(2):333-9.
2002: Elson Joanna L; Samuels David C; Johnson Margaret A; Turnbull Douglass M; Chinnery Patrick F
The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy.
Neuromuscular disorders : NMD 2002;12(9):858-64.
2002: McFarland Robert; Taylor Robert W; Turnbull Douglass M
The neurology of mitochondrial DNA disease.
Lancet neurology 2002;1(6):343-51.
2002: Chinnery Patrick F; Samuels David C; Elson Joanna; Turnbull Douglass M
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism?
Lancet 2002;360(9342):1323-5.
2002: Cottrell D A; Borthwick G M; Johnson M A; Ince P G; Turnbull D M
The role of cytochrome c oxidase deficient hippocampal neurones in Alzheimer's disease.
Neuropathology and applied neurobiology 2002;28(5):390-6.
2002: Tyni Tiina; Johnson Margaret; Eaton Simon; Pourfarzam Morteza; Andrews Richard; Turnbull Douglass M
Mitochondrial fatty acid beta-oxidation in the retinal pigment epithelium.
Pediatric research 2002;52(4):595-600.
2002: Visapää Ilona; Fellman Vineta; Vesa Jouni; Dasvarma Ayan; Hutton Jenna L; Kumar Vijay; Payne Gregory S; Makarow Marja; Van Coster Rudy; Taylor Robert W; Turnbull Douglass M; Suomalainen Anu; Peltonen Leena
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):863-76.
2002: Taylor Robert W; Schaefer Andrew M; McFarland Robert; Maddison Paul; Turnbull Douglass M
A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy.
Neuromuscular disorders : NMD 2002;12(7-8):659-664.
2002: Spiropoulos John; Turnbull Douglass M; Chinnery Patrick F
Can mitochondrial DNA mutations cause sperm dysfunction?
Molecular human reproduction 2002;8(8):719-21.
2002: He Langping; Chinnery Patrick F; Durham Steve E; Blakely Emma L; Wardell Theresa M; Borthwick Gillian M; Taylor Robert W; Turnbull Douglass M
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.
Nucleic acids research 2002;30(14):e68.
2002: Choo-Kang Alan T W; Lynn Stephen; Taylor Geoffrey A; Daly Mark E; Sihota Sarbpreet S; Wardell Teressa M; Chinnery Patrick F; Turnbull Douglass M; Walker Mark
Defining the importance of mitochondrial gene defects in maternally inherited diabetes by sequencing the entire mitochondrial genome.
Diabetes 2002;51(7):2317-20.
2002: Tyni Tiina; Pourfarzam Morteza; Turnbull Douglass M
Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle.
Pediatric research 2002;52(1):64-70.
2002: Menzies Fiona M; Cookson Mark R; Taylor Robert W; Turnbull Douglass M; Chrzanowska-Lightowlers Zofia M A; Dong Lichun; Figlewicz Denise A; Shaw Pamela J
Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis.
Brain : a journal of neurology 2002;125(Pt 7):1522-33.
2002: Man P Y W; Brown D T; Wehnert M S; Zeviani M; Carrara F; Turnbull D M; Chinnery P F
NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
Neurology 2002;58(12):1861-2.
2002: Herrnstadt Corinna; Elson Joanna L; Fahy Eoin; Preston Gwen; Turnbull Douglass M; Anderson Christen; Ghosh Soumitra S; Olefsky Jerrold M; Beal M Flint; Davis Robert E; Howell Neil
Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups.
American journal of human genetics 2002;70(5):1152-71.
2002: Herrnstadt Corinna; Preston Gwen; Andrews Richard; Chinnery Patrick; Lightowlers Robert N; Turnbull Douglass M; Kubacka Iwona; Howell Neil
A high frequency of mtDNA polymorphisms in HeLa cell sublines.
Mutation research 2002;501(1-2):19-28.
2002: Turnbull Douglass M; Lightowlers Robert N
A roundabout route to gene therapy.
Nature genetics 2002;30(4):345-6.
2002: Man P Y W; Turnbull D M; Chinnery P F
Leber hereditary optic neuropathy.
Journal of medical genetics 2002;39(3):162-9.
2002: Taylor Robert W; Morris Andrew A M; Hutchinson Michael; Turnbull Douglass M
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
European journal of human genetics : EJHG 2002;10(2):141-4.
2002: McFarland Robert; Clark Kim M; Morris Andrew A M; Taylor Robert W; Macphail Sheila; Lightowlers Robert N; Turnbull Douglass M
Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
Nature genetics 2002;30(2):145-6.
2002: Lynn Stephen; Evans Julie C; White Christopher; Frayling Timothy M; Hattersley Andrew T; Turnbull Doug M; Horikawa Yukio; Cox Nancy J; Bell Graeme I; Walker Mark
Variation in the calpain-10 gene affects blood glucose levels in the British population.
Diabetes 2002;51(1):247-50.
2002: Cottrell D A; Turnbull D M
The mitochondrial genome, aging and neurodegenerative disorders.
Nestlé Nutrition workshop series. Clinical & performance programme 2002;6():1-13; discussion 13-6.
2001: Barron M J; Johnson M A; Andrews R M; Clarke M P; Griffiths P G; Bristow E; He L P; Durham S; Turnbull D M
Mitochondrial abnormalities in ageing macular photoreceptors.
Investigative ophthalmology & visual science 2001;42(12):3016-22.
2001: Taylor R W; Wardell T M; Connolly B A; Turnbull D M; Lightowlers R N
Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates.
Nucleic acids research 2001;29(16):3404-12.
2001: Taylor R W; Taylor G A; Durham S E; Turnbull D M
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):E74-4.
2001: Cottrell D A; Blakely E L; Johnson M A; Ince P G; Turnbull D M
Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD.
Neurology 2001;57(2):260-4.
2001: Taylor R W; Singh-Kler R; Hayes C M; Smith P E; Turnbull D M
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
Annals of neurology 2001;50(1):104-7.
2001: Taylor R W; Wardell T M; Smith P M; Muratovska A; Murphy M P; Turnbull D M; Lightowlers R N
An antigenomic strategy for treating heteroplasmic mtDNA disorders.
Advanced drug delivery reviews 2001;49(1-2):121-5.
2001: Schaefer A M; Taylor R W; Turnbull D M
The mitochondrial genome and mitochondrial muscle disorders.
Current opinion in pharmacology 2001;1(3):288-93.
2001: Cottrell D A; Ince P G; Wardell T M; Turnbull D M; Johnson M A
Accelerated ageing changes in the choroid plexus of a case with multiple mitochondrial DNA deletions.
Neuropathology and applied neurobiology 2001;27(3):206-14.
2001: Muratovska A; Lightowlers R N; Taylor R W; Turnbull D M; Smith R A; Wilce J A; Martin S W; Murphy M P
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):1852-63.
2001: Cottrell D A; Blakely E L; Johnson M A; Ince P G; Borthwick G M; Turnbull D M
Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.
Neurobiology of aging 2001;22(2):265-72.
2001: Elson J L; Samuels D C; Turnbull D M; Chinnery P F
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age.
American journal of human genetics 2001;68(3):802-6.
2001: McDermott C J; Dayaratne R K; Tomkins J; Lusher M E; Lindsey J C; Johnson M A; Casari G; Turnbull D M; Bushby K; Shaw P J
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England.
Neurology 2001;56(4):467-71.
2001: Chinnery P F; Taylor G A; Howell N; Brown D T; Parsons T J; Turnbull D M
Point mutations of the mtDNA control region in normal and neurodegenerative human brains.
American journal of human genetics 2001;68(2):529-32.
2001: Brown D T; Samuels D C; Michael E M; Turnbull D M; Chinnery P F
Random genetic drift determines the level of mutant mtDNA in human primary oocytes.
American journal of human genetics 2001;68(2):533-6.
2001: Chinnery P F; Andrews R M; Turnbull D M; Howell N N
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
American journal of medical genetics 2001;98(3):235-43.
2001: Chinnery P F; Brown D T; Andrews R M; Singh-Kler R; Riordan-Eva P; Lindley J; Applegarth D A; Turnbull D M; Howell N
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
Brain : a journal of neurology 2001;124(Pt 1):209-18.
2001: Chinnery P F; Jones S; Sviland L; Andrews R M; Parsons T J; Turnbull D M; Bindoff L A
Mitochondrial enteropathy: the primary pathology may not be within the gastrointestinal tract.
Gut 2001;48(1):121-4.
2001: Elson J L; Andrews R M; Chinnery P F; Lightowlers R N; Turnbull D M; Howell N
Analysis of European mtDNAs for recombination.
American journal of human genetics 2001;68(1):145-153.
2001: Turnbull D M; Lightowlers R N; Taylor R W
Current perspectives in the treatment of mitochondrial DNA diseases.
Functional neurology 2001;16(4 Suppl):89-96.
2001: Chinnery P F; Turnbull D M
Epidemiology and treatment of mitochondrial disorders.
American journal of medical genetics 2001;106(1):94-101.
2001: Birch-Machin M A; Turnbull D M
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.
Methods in cell biology 2001;65():97-117.
2001: Cottrell D A; Blakely E L; Johnson M A; Borthwick G M; Ince P I; Turnbull D M
Mitochondrial DNA mutations in disease and ageing.
Novartis Foundation symposium 2001;235():234-43; discussion 243-6.
2000: Chinnery P F; Turnbull D M
Mitochondrial DNA mutations in the pathogenesis of human disease.
Molecular medicine today 2000;6(11):425-32.
2000: Chinnery P F; Thorburn D R; Samuels D C; White S L; Dahl H M; Turnbull D M; Lightowlers R N; Howell N
The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?
Trends in genetics : TIG 2000;16(11):500-5.
2000: Birch-Machin M A; Taylor R W; Cochran B; Ackrell B A; Turnbull D M
Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene.
Annals of neurology 2000;48(3):330-5.
2000: Chinnery P F; Johnson M A; Wardell T M; Singh-Kler R; Hayes C; Brown D T; Taylor R W; Bindoff L A; Turnbull D M
The epidemiology of pathogenic mitochondrial DNA mutations.
Annals of neurology 2000;48(2):188-93.
2000: Howell N; Chinnery P F; Ghosh S S; Fahy E; Turnbull D M
Transmission of the human mitochondrial genome.
Human reproduction (Oxford, England) 2000;15 Suppl 2():235-45.
2000: Taylor R W; Chinnery P F; Turnbull D M; Lightowlers R N
In-vitro genetic modification of mitochondrial function.
Human reproduction (Oxford, England) 2000;15 Suppl 2():79-85.
2000: Jackson S; Bagstaff S M; Lynn S; Yeaman S J; Turnbull D M; Walker M
Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families.
Diabetes 2000;49(7):1169-77.
2000: Chinnery P F; Taylor G A; Howell N; Andrews R M; Morris C M; Taylor R W; McKeith I G; Perry R H; Edwardson J A; Turnbull D M
Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies.
Neurology 2000;55(2):302-4.
2000: Cottrell D A; Ince P G; Blakely E L; Johnson M A; Chinnery P F; Hanna M; Turnbull D M
Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder.
Journal of neuropathology and experimental neurology 2000;59(7):621-7.
2000: Cottrell D A; Blakely E L; Borthwick G M; Johnson M A; Taylor G A; Brierley E J; Ince P G; Turnbull D M
Role of mitochondrial DNA mutations in disease and aging.
Annals of the New York Academy of Sciences 2000;908():199-207.
2000: Lynn S; Hattersley A T; McCarthy M I; Frayling T M; Turnbull D M; Walker M
Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios.
Diabetologia 2000;43(3):384-5.
2000: Chinnery P F; Elliott C; Green G R; Rees A; Coulthard A; Turnbull D M; Griffiths T D
The spectrum of hearing loss due to mitochondrial DNA defects.
Brain : a journal of neurology 2000;123 ( Pt 1)():82-92.
2000: Taylor R W; Wardell T M; Lightowlers R N; Turnbull D M
Molecular basis for treatment of mitochondrial myopathies.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2000;21(5 Suppl):S909-12.
1999: Andrews R M; Griffiths P G; Chinnery P F; Turnbull D M
Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome.
Eye (London, England) 1999;13 ( Pt 6)():769-72.
1999: Chinnery P F; Taylor R W; Diekert K; Lill R; Turnbull D M; Lightowlers R N
Peptide nucleic acid delivery to human mitochondria.
Gene therapy 1999;6(12):1919-28.
1999: Borthwick G M; Johnson M A; Ince P G; Shaw P J; Turnbull D M
Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death.
Annals of neurology 1999;46(5):787-90.
1999: Andrews R M; Kubacka I; Chinnery P F; Lightowlers R N; Turnbull D M; Howell N
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.
Nature genetics 1999;23(2):147.
1999: Andrews R M; McNeela B J; Reading P; Griffiths P G; Chinnery P F; Turnbull D M
Mitochondrial DNA disease masquerading as age-related mascular degeneration.
Eye (London, England) 1999;13 ( Pt 4)():595-6.
1999: Chinnery P F; Zwijnenburg P J; Walker M; Howell N; Taylor R W; Lightowlers R N; Bindoff L; Turnbull D M
Nonrandom tissue distribution of mutant mtDNA.
American journal of medical genetics 1999;85(5):498-501.
1999: Chinnery P F; Turnbull D M
Mitochondrial DNA and disease.
Lancet 1999;354 Suppl 1():SI17-21.
1999: Chinnery P F; Howell N; Andrews R M; Turnbull D M
Mitochondrial DNA analysis: polymorphisms and pathogenicity.
Journal of medical genetics 1999;36(7):505-10.
1999: Chinnery P F; Howell N; Andrews R M; Turnbull D M
Clinical mitochondrial genetics.
Journal of medical genetics 1999;36(6):425-36.
1999: Clark K M; Taylor R W; Johnson M A; Chinnery P F; Chrzanowska-Lightowlers Z M; Andrews R M; Nelson I P; Wood N W; Lamont P J; Hanna M G; Lightowlers R N; Turnbull D M
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):1330-9.
1999: Andrews R M; Griffiths P G; Johnson M A; Turnbull D M
Histochemical localisation of mitochondrial enzyme activity in human optic nerve and retina.
The British journal of ophthalmology 1999;83(2):231-5.
1998: Clark K M; Watt D J; Lightowlers R N; Johnson M A; Relvas J B; Taanman J W; Turnbull D M
SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects.
The Journal of clinical investigation 1998;102(12):2090-5.
1998: Lynn S; Wardell T; Johnson M A; Chinnery P F; Daly M E; Walker M; Turnbull D M
Mitochondrial diabetes: investigation and identification of a novel mutation.
Diabetes 1998;47(11):1800-2.
1998: Morris A A; Turnbull D M
Fatty acid oxidation defects in muscle.
Current opinion in neurology 1998;11(5):485-90.
1998: Chinnery P F; Howell N; Lightowlers R N; Turnbull D M
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring.
Brain : a journal of neurology 1998;121 ( Pt 10)():1889-94.
1998: Taylor R W; Taylor G A; Morris C M; Edwardson J M; Turnbull D M
Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood.
Biochemical and biophysical research communications 1998;251(3):883-7.
1998: Chinnery P F; Turnbull D M; Howell N; Andrews R M
Mitochondrial DNA mutations and pathogenicity.
Journal of medical genetics 1998;35(8):701-2.
1998: Chinnery P F; Turnbull D M
Mitochondrial genotype and clinical phenotype.
Journal of inherited metabolic disease 1998;21(4):321-5.
1998: Brierley E J; Johnson M A; Lightowlers R N; James O F; Turnbull D M
Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle.
Annals of neurology 1998;43(2):217-23.
1998: Taylor R W; Chinnery P F; Bates M J; Jackson M J; Johnson M A; Andrews R M; Turnbull D M
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.
1997: Chinnery P F; Turnbull D M
Mitochondrial medicine.
QJM : monthly journal of the Association of Physicians 1997;90(11):657-67.
1997: Lightowlers R N; Chinnery P F; Turnbull D M; Howell N
Mammalian mitochondrial genetics: heredity, heteroplasmy and disease.
Trends in genetics : TIG 1997;13(11):450-5.
1997: Chinnery P F; Howell N; Lightowlers R N; Turnbull D M
Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.
Brain : a journal of neurology 1997;120 ( Pt 10)():1713-21.
1997: Chinnery P F; Johnson M A; Taylor R W; Durward W F; Turnbull D M
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia.
Neurology 1997;49(4):1166-8.
1997: Chinnery P F; Reading P J; Milne D; Gardner-Medwin D; Turnbull D M
CSF antigliadin antibodies and the Ramsay Hunt syndrome.
Neurology 1997;49(4):1131-3.
1997: Brierley E J; Johnson M A; James O F; Turnbull D M
Mitochondrial involvement in the ageing process. Facts and controversies.
Molecular and cellular biochemistry 1997;174(1-2):325-8.
1997: Chinnery P F; Turnbull D M; Walls T J; Reading P J
Recurrent strokes in a 34-year-old man.
Lancet 1997;350(9077):560.
1997: Clark K M; Bindoff L A; Lightowlers R N; Andrews R M; Griffiths P G; Johnson M A; Brierley E J; Turnbull D M
Reversal of a mitochondrial DNA defect in human skeletal muscle.
Nature genetics 1997;16(3):222-4.
1997: Newkirk J E; Taylor R W; Howell N; Bindoff L A; Chinnery P F; Alberti K G; Turnbull D M; Walker M
Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population.
Diabetic medicine : a journal of the British Diabetic Association 1997;14(6):457-60.
1997: Taylor R W; Chinnery P F; Clark K M; Lightowlers R N; Turnbull D M
Treatment of mitochondrial disease.
Journal of bioenergetics and biomembranes 1997;29(2):195-205.
1997: Chinnery P F; Johnson M A; Taylor R W; Lightowlers R N; Turnbull D M
A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis.
Annals of neurology 1997;41(3):408-10.
1997: Schaefer J; Jackson S; Taroni F; Swift P; Turnbull D M
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.
Journal of neurology, neurosurgery, and psychiatry 1997;62(2):169-76.
1997: Adams P L; Lightowlers R N; Turnbull D M
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome.
Annals of neurology 1997;41(2):268-70.
1997: Taylor R W; Chinnery P F; Turnbull D M; Lightowlers R N
Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids.
Nature genetics 1997;15(2):212-5.
1997: Weber K; Wilson J N; Taylor L; Brierley E; Johnson M A; Turnbull D M; Bindoff L A
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle.
American journal of human genetics 1997;60(2):373-80.
1997: Brierly E J; Johnson M A; Bowman A; Ford G A; Subhan F; Reed J W; James O F; Turnbull D M
Mitochondrial function in muscle from elderly athletes.
Annals of neurology 1997;41(1):114-6.
1996: Hurel S J; Rochford J J; Borthwick A C; Wells A M; Vandenheede J R; Turnbull D M; Yeaman S J
Insulin action in cultured human myoblasts: contribution of different signalling pathways to regulation of glycogen synthesis.
The Biochemical journal 1996;320 ( Pt 3)():871-7.
1996: Schaefer J; Jackson S; Dick D J; Turnbull D M
Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.
Annals of neurology 1996;40(4):597-602.
1996: Taylor R W; Chinnery P F; Haldane F; Morris A A; Bindoff L A; Wilson J; Turnbull D M
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
Annals of neurology 1996;40(3):459-62.
1996: Morris A A; Leonard J V; Brown G K; Bidouki S K; Bindoff L A; Woodward C E; Harding A E; Lake B D; Harding B N; Farrell M A; Bell J E; Mirakhur M; Turnbull D M
Deficiency of respiratory chain complex I is a common cause of Leigh disease.
Annals of neurology 1996;40(1):25-30.
1996: Armstrong M; Haldane F; Avery P J; Mitcheson J; Stewart M W; Turnbull D M; Walker M
Relationship between insulin sensitivity and insulin receptor substrate-1 mutations in non-diabetic relatives of NIDDM families.
Diabetic medicine : a journal of the British Diabetic Association 1996;13(4):341-5.
1996: Brierley E J; Johnson M A; James O F; Turnbull D M
Effects of physical activity and age on mitochondrial function.
QJM : monthly journal of the Association of Physicians 1996;89(4):251-8.
1996: Taylor R W; Birch-Machin M A; Schaefer J; Taylor L; Shakir R; Ackrell B A; Cochran B; Bindoff L A; Jackson M J; Griffiths P; Turnbull D M
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia.
Annals of neurology 1996;39(2):224-32.
1996: Armstrong M; Haldane F; Taylor R W; Humphriss D; Berrish T; Stewart M W; Turnbull D M; Alberti K G; Walker M
Human insulin receptor substrate-1: variant sequences in familial non-insulin-dependent diabetes mellitus.
Diabetic medicine : a journal of the British Diabetic Association 1996;13(2):133-8.
1996: Brierley E J; Griffiths P G; Weber K; Johnson M A; Turnbull D M
Normal respiratory chain function in patients with low-tension glaucoma.
Archives of ophthalmology 1996;114(2):142-6.
1996: Adams P L; Turnbull D M
Disorders of the electron transport chain.
Journal of inherited metabolic disease 1996;19(4):463-9.
1995: Jackson S; Schaefer J; Middleton B; Turnbull D M
Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase.
Biochemical and biophysical research communications 1995;214(1):247-53.
1995: Morris A A; Taylor R W; Birch-Machin M A; Jackson M J; Coulthard M G; Bindoff L A; Welch R J; Howell N; Turnbull D M
Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain.
Pediatric nephrology (Berlin, Germany) 1995;9(4):407-11.
1995: Chrzanowska-Lightowlers Z M; Lightowlers R N; Turnbull D M
Gene therapy for mitochondrial DNA defects: is it possible?
Gene therapy 1995;2(5):311-6.
1995: Borthwick A C; Wells A M; Rochford J J; Hurel S J; Turnbull D M; Yeaman S J
Inhibition of glycogen synthase kinase-3 by insulin in cultured human skeletal muscle myoblasts.
Biochemical and biophysical research communications 1995;210(3):738-45.
1995: Morris A A; Jackson M J; Bindoff L A; Turnbull D M
The investigation of mitochondrial respiratory chain disease.
Journal of the Royal Society of Medicine 1995;88(4):217P-222P.
1995: Jackson M J; Schaefer J A; Johnson M A; Morris A A; Turnbull D M; Bindoff L A
Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients.
Brain : a journal of neurology 1995;118 ( Pt 2)():339-57.
1995: Morris A A; Taylor R W; Lightowlers R N; Aynsley-Green A; Bartlett K; Turnbull D M
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.
Human molecular genetics 1995;4(4):747-9.
1995: Schaefer J; Pourfarzam M; Bartlett K; Jackson S; Turnbull D M
Fatty acid oxidation in peripheral blood cells: characterization and use for the diagnosis of defects of fatty acid oxidation.
Pediatric research 1995;37(3):354-60.
1995: Walker M; Taylor R W; Stewart M W; Bindoff L A; Jackson M J; Alberti G K; Turnbull D M
Insulin sensitivity and mitochondrial gene mutation.
Diabetes care 1995;18(2):273-5.
1994: Pourfarzam M; Schaefer J; Turnbull D M; Bartlett K
Analysis of fatty acid oxidation intermediates in cultured fibroblasts to detect mitochondrial oxidation disorders.
Clinical chemistry 1994;40(12):2267-75.
1994: Taylor R W; Stewart M W; Avery P J; Humphriss D B; Alberti K G; Turnbull D M; Walker M
Apolipoprotein E and familial non-insulin-dependent diabetes mellitus.
Lancet 1994;344(8919):406.
1994: Jackson M J; Bindoff L A; Weber K; Wilson J N; Ince P; Alberti K G; Turnbull D M
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
Diabetes care 1994;17(7):728-33.
1994: Ogilvie I; Pourfarzam M; Jackson S; Stockdale C; Bartlett K; Turnbull D M
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
Neurology 1994;44(3 Pt 1):467-73.
1994: Eaton S; Turnbull D M; Bartlett K
Redox control of beta-oxidation in rat liver mitochondria.
European journal of biochemistry / FEBS 1994;220(3):671-81.
1994: Morris A A; Farnsworth L; Ackrell B A; Turnbull D M; Birch-Machin M A
The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.
Biochimica et biophysica acta 1994;1185(1):125-8.
1994: Birch-Machin M A; Briggs H L; Saborido A A; Bindoff L A; Turnbull D M
An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.
Biochemical medicine and metabolic biology 1994;51(1):35-42.
1994: Taylor R W; Birch-Machin M A; Bartlett K; Lowerson S A; 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.
The Journal of biological chemistry 1994;269(5):3523-8.
1993: Chrzanowska-Lightowlers Z M; Turnbull D M; Lightowlers R N
A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells.
Analytical biochemistry 1993;214(1):45-9.
1993: Chrzanowska-Lightowlers Z M; Turnbull D M; Bindoff L A; Lightowlers R N
An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase.
Biochemical and biophysical research communications 1993;196(1):328-35.
1993: Bindoff L A; Howell N; Poulton J; McCullough D A; Morten K J; Lightowlers R N; Turnbull D M; Weber K
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.
The Journal of biological chemistry 1993;268(26):19559-64.
1993: Taylor R W; Birch-Machin M A; Lowerson S; Sherratt H S; West I C; Bartlett K; Turnbull D M
Defects of oxidative phosphorylation in man.
Biochemical Society transactions 1993;21 ( Pt 3)(3):804-7.
1993: Taylor R W; Birch-Machin M A; Bartlett K; Turnbull D M
Succinate-cytochrome c reductase: assessment of its value in the investigation of defects of the respiratory chain.
Biochimica et biophysica acta 1993;1181(3):261-5.
1993: Eaton S; Bhuiyan A K; Kler R S; Turnbull D M; Bartlett K
Intramitochondrial control of the oxidation of hexadecanoate in skeletal muscle. A study of the acyl-CoA esters which accumulate during rat skeletal-muscle mitochondrial beta-oxidation of [U-14C]hexadecanoate and [U-14C]hexadecanoyl-carnitine.
The Biochemical journal 1993;289 ( Pt 1)():161-8.
1993: Johnson M A; Bindoff L A; Turnbull D M
Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications.
Annals of neurology 1993;33(1):28-35.
1992: Jackson S; Kler R S; Bartlett K; Briggs H; Bindoff L A; Pourfarzam M; Gardner-Medwin D; Turnbull D M
Combined enzyme defect of mitochondrial fatty acid oxidation.
The Journal of clinical investigation 1992;90(4):1219-25.
1992: Lowerson S A; Taylor L; Briggs H L; Turnbull D M
Measurement of the activity of individual respiratory chain complexes in isolated fibroblast mitochondria.
Analytical biochemistry 1992;205(2):372-4.
1992: Howell N; Halvorson S; Kubacka I; McCullough D A; Bindoff L A; Turnbull D M
Mitochondrial gene segregation in mammals: is the bottleneck always narrow?
Human genetics 1992;90(1-2):117-20.
1992: Birch-Machin M A; Farnsworth L; Ackrell B A; Cochran B; Jackson S; Bindoff L A; Aitken A; Diamond A G; Turnbull D M
The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase.
The Journal of biological chemistry 1992;267(16):11553-8.
1992: Bhuiyan A K; Jackson S; Turnbull D M; Aynsley-Green A; Leonard J V; Bartlett K
The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.
Clinica chimica acta; international journal of clinical chemistry 1992;207(3):185-204.
1992: Kler R S; Sherratt H S; Turnbull D M
The measurement of mitochondrial beta-oxidation by release of 3H2O from [9,10-3H]hexadecanoate: application to skeletal muscle and the use of inhibitors as models of metabolic disease.
Biochemical medicine and metabolic biology 1992;47(2):145-56.
1992: Jackson S; Kler R S; Bartlett K; Pourfarzam M; Aynsley-Green A; Bindoff L A; Turnbull D M
Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.
Progress in clinical and biological research 1992;375():327-37.
1992: Taylor R W; Jackson S; Pourfarzam M; Bartlett K; Turnbull D M
Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.
Journal of inherited metabolic disease 1992;15(5):727-32.
1991: Ogilvie I; Jackson S; Bartlett K; Turnbull D M
Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.
Biochemical medicine and metabolic biology 1991;46(3):373-9.
1991: Kler R S; Jackson S; Bartlett K; Bindoff L A; Eaton S; Pourfarzam M; Frerman F E; Goodman S I; Watmough N J; Turnbull D M
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
The Journal of biological chemistry 1991;266(34):22932-8.
1991: Howell N; Bindoff L A; McCullough D A; Kubacka I; Poulton J; Mackey D; Taylor L; Turnbull D M
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
American journal of human genetics 1991;49(5):939-50.
1991: Kler R S; Sherratt H S; Turnbull D M; Melde K
Organic aciduria in fasted rats caused by 2-[6-(4-chlorophenoxy)hexyl]oxirane-2-carboxylate (etomoxir).
Biochemical pharmacology 1991;42(8):1637-9.
1991: Bindoff L A; Birch-Machin M A; Cartlidge N E; Parker W D; Turnbull D M
Respiratory chain abnormalities in skeletal muscle from patients with Parkinson's disease.
Journal of the neurological sciences 1991;104(2):203-8.
1991: Jackson S; Bartlett K; Land J; Moxon E R; Pollitt R J; Leonard J V; Turnbull D M
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pediatric research 1991;29(4 Pt 1):406-11.
1991: Bindoff L A; Desnuelle C; Birch-Machin M A; Pellissier J F; Serratrice G; Dravet C; Bureau M; Howell N; Turnbull D M
Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.
Journal of the neurological sciences 1991;102(1):17-24.
1991: Bindoff L A; Birch-Machin M A; Jackson S; Singh Kler R; Bartlett K; Turnbull D M
Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation.
Revue neurologique 1991;147(6-7):526-31.
1990: Farnsworth L; Shepherd I M; Johnson M A; Bindoff L A; Turnbull D M
Absence of immunoreactive enzyme protein in short-chain acylcoenzyme A dehydrogenase deficiency.
Annals of neurology 1990;28(5):717-20.
1990: Watmough N J; Bindoff L A; Birch-Machin M A; Jackson S; Bartlett K; Ragan C I; Poulton J; Gardiner R M; Sherratt H S; Turnbull D M
Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.
The Journal of clinical investigation 1990;85(1):177-84.
1990: Turnbull D M; Shepherd I M; Bartlett K; Sherratt H S
Short-chain acyl-CoA dehydrogenase deficiency.
Progress in clinical and biological research 1990;321():313-24.
1989: Bindoff L A; Birch-Machin M A; Farnsworth L; Gardner-Medwin D; Lindsay J G; Turnbull D M
Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex.
Journal of the neurological sciences 1989;93(2-3):311-8.
1989: Watmough N J; Turnbull D M; Sherratt H S; Bartlett K
Measurement of the acyl-CoA intermediates of beta-oxidation by h.p.l.c. with on-line radiochemical and photodiode-array detection. Application to the study of [U-14C]hexadecanoate oxidation by intact rat liver mitochondria.
The Biochemical journal 1989;262(1):261-9.
1989: Birch-Machin M A; Shepherd I M; Watmough N J; Sherratt H S; Bartlett K; Darley-Usmar V M; Milligan D W; Welch R J; Aynsley-Green A; Turnbull D M
Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain.
Pediatric research 1989;25(5):553-9.
1989: Watmough N J; Birch-Machin M A; Bindoff L A; Aynsley-Green A; Simpson K; Ragan C I; Sherratt H S; Turnbull D M
Tissue specific defect of complex I of the mitochondrial respiratory chain.
Biochemical and biophysical research communications 1989;160(2):623-7.
1988: Singh R; Shepherd I M; Derrick J P; Ramsay R R; Sherratt H S; Turnbull D M
A case of carnitine palmitoyltransferase II deficiency in human skeletal muscle.
FEBS letters 1988;241(1-2):126-30.
1988: Turnbull D M; Bartlett K; Eyre J A; Gardner-Medwin D; Johnson M A; Fisher J; Watmough N J
Lipid storage myopathy due to glutaric aciduria type II: treatment of a potentially fatal myopathy.
Developmental medicine and child neurology 1988;30(5):667-72.
1988: Johnson M A; Kadenbach B; Droste M; Old S L; Turnbull D M
Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies.
Journal of the neurological sciences 1988;87(1):75-90.
1988: Turnbull D M; Shepherd I M; Ashworth B; Bartlett K; Johnson M A; Cullen M J; Jackson S; Sherratt H S
Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.
Brain : a journal of neurology 1988;111 ( Pt 4)():815-28.
1988: Watmough N J; Bhuiyan A K; Bartlett K; Sherratt H S; Turnbull D M
Skeletal muscle mitochondrial beta-oxidation. A study of the products of oxidation of [U-14C]hexadecanoate by h.p.l.c. using continuous on-line radiochemical detection.
The Biochemical journal 1988;253(2):541-7.
1988: Turnbull D M; Shepherd I M; Aynsley-Green A
Inherited defects of mitochondrial fatty acid oxidation.
Biochemical Society transactions 1988;16(3):424-7.
1988: Sherratt H S; Watmough N J; Johnson M A; Turnbull D M
Methods for study of normal and abnormal skeletal muscle mitochondria.
Methods of biochemical analysis 1988;33():243-335.
1988: Birch-Machin M A; Shepherd I M; Solomon M; Yeaman S J; Gardner-Medwin D; Sherratt H S; Lindsay J G; Aynsley-Green A; Turnbull D M
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.
Journal of inherited metabolic disease 1988;11(2):207-17.
1987: Bhuiyan A K; Watmough N J; Turnbull D M; Aynsley-Green A; Leonard J V; Bartlett K
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
Clinica chimica acta; international journal of clinical chemistry 1987;165(1):39-44.
1987: Turnbull D M; Bartlett K; Watmough N J; Shepherd I M; Sherratt H S
Defects of fatty acid oxidation in skeletal muscle.
Journal of inherited metabolic disease 1987;10 Suppl 1():105-12.
1985: Turnbull D M; Johnson M A; Dick D J; Cartlidge N E; Sherratt H S
Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia.
Journal of the neurological sciences 1985;70(1):93-100.
1983: Johnson M A; Turnbull D M; Dick D J; Sherratt H S
A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia.
Journal of the neurological sciences 1983;60(1):31-53.

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