publications
Showing 26 to 50 of 184 Publications found in the , by Prof. Doug Turnbull.
- Hudson G; Amati-Bonneau P; Blakely E; Stewart J; He L; Schaefer A; Griffiths P; Ahlqvist K; Suomalainen A; Reynier P; McFarland R; Turnbull D; Chinnery P; Taylor R. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: A novel disorder of mtDNA maintenance. Brain 2008, 131(2), 329-337.
- Reeve AK; Krishnan KJ; Elson JL; Morris CM; Bender A; Lightowlers RN; Turnbull DM. Nature of Mitochondrial DNA Deletions in Substantia Nigra Neurons. American Journal of Human Genetics 2008, 82(1), 228-235.
- Blakely E; He L; Gardner JL; Hudson G; Walter J; Hughes I; Turnbull DM; Taylor RW. Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy. Neuromuscular Disorders 2008, 18(7), 557-560.
- Stewart JD; Tennant S; Powell H; Pyle A; Blakeley EL; He L; Hudson G; Roberts M; du Plessis D; Gow D; Mewasingh LD; Hanna MG; Omer S; Morris AAM; Roxburgh R; Livingston J; McFarland R; Turnbull DM; Chinnery PF; Taylor RW. Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Journal of Medical Genetics 2008, 46(3), 209-214.
- Rorbach J; Yusoff A; Tuppen H; Abg-Kamaludin D; Chrzanowska-Lightowlers Z; Taylor R; Turnbull D; Mcfarland R; Lightowlers R. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation. Nucleic Acids Research 2008, 36(9), 3065-3074.
- Schaefer AM; McFarland R; Blakely EL; He L; Whittaker RG; Taylor RW; Chinnery PF; Turnbull DM. Prevalence of mitochondrial DNA disease in adults. Annals of Neurology 2008, 63(1), 35-39.
- Murphy JL; Blakely EL; Schaefer AM; He L; Wyrick P; Haller RG; Taylor RW; Turnbull DM; Taivassalo T. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain 2008, 131(11), 2832-2840.
- Mahad DJ; Lassmann H; Turnbull DM. Review: Mitochondria and disease progression in multiple sclerosis. Neuropathology and Applied Neurobiology 2008, 34(6), 577-589.
- Krishnan KJ; Reeve AK; Samuels DC; Chinnery PF; Blackwood JK; Taylor RW; Wanrooij S; Spelbrink JN; Lightowlers RN; Turnbull DM. What causes mitochondrial DNA deletions in human cells?. Nature Genetics 2008, 40(3), 275-279.
- Krishnan KJ; Bender A; Taylor RW; Turnbull DM. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Analytical Biochemistry 2007, 370(1), 127-129.
- Kirby DM; Thorburn DR; Turnbull DM; Taylor RW. Biochemical Assays of Respiratory Chain Complex Activity. Methods in Cell Biology 2007, 80, 93-119.
- Whittaker RG; Schaefer AM; McFarland R; Taylor RW; Walker M; Turnbull DM. Diabetes and deafness: Is it sufficient to screen for the mitochondrial 3243A>G mutation alone?. Diabetes Care 2007, 30(9), 2238-2239.
- Whittaker RG; Schaefer AM; Taylor RW; Turnbull DM. Differential diagnosis in ptosis and ophthalmoplegia: Mitochondrial disease or myasthenia? [11]. Journal of Neurology 2007, 254(8), 1138-1139.
- Krishnan KJ; Reeve AK; Turnbull DM. Do mitochondrial DNA mutations have a role in neurodegenerative disease?. Biochemical Society Transactions: Focus Topics at Life Sciences 2007. Glasgow, UK: Portland Press Ltd, 35, 5(5), 1232-1235.
- Olsen RKJ; Cornelius N; Andersen O; Oldfors A; Holme E; Gregersen N; Turnbull DM; Morris AAM; Olpin SE; Andresen BS; Miedzybrodzka ZH; Pourfarzam M; Merinero B; Frerman FE; Beresford MW; Dean JCS. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 2007, 130(8), 2045-2054.
- Gardner JL; Craven L; Turnbull DM; Taylor RW. Experimental Strategies Towards Treating Mitochondrial DNA Disorders. Bioscience Reports 2007, 27(1-3), 139-150.
- Morris AAM; Appleton RE; Power B; Isherwood DM; Abernethy LJ; Taylor RW; Turnbull DM; Verhoeven NM; Salomons GS; Jakobs C. Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy. Journal of Inherited Metabolic Disease 2007. London: Springer, 30(1), 100-100.
- Taylor RW; Chinnery PF; Turnbull DM. Investigation of metabolic myopathies. Handbook of Clinical Neurology 2007, 86, 193-204.
- Phoenix C; Taylor GA; Hartley J; Nixon H; Ince PG; Shaw PJ; Turnbull DM; Taylor RW. Investigation of the mitochondrial genome in patients with atypical motor neuron disease. Journal of Neurology 2007, 254(4), 482-487.
- Deschauer M; Tennant S; Rokicka A; He L; Kraya T; Turnbull DM; Zierz S; Taylor RW. MELAS associated with mutations in the POLG1 gene. Neurology 2007, 68(20), 1741-1742.
- McFarland R; Taylor RW; Turnbull DM. Mitochondrial Disease-Its Impact, Etiology, and Pathology. Current Topics in Developmental Biology 2007, 77, 113-155.
- Krishnan KJ, Greaves LC, Reeve AK, Turnbull DM. Mitochondrial DNA mutations and aging. Biogerontology - Mechanisms and Interventions: 5th European Congress of Biogerontology 2007. Istanbul, Turkey: Wiley-Blackwell Publishing, Inc, 1100, 227-240.
- Taylor RW; Turnbull DM. Mitochondrial DNA Transcription: Regulating the Power Supply. Cell 2007, 130(2), 211-213.
- Hudson G; Chinnery PF; Schaefer AM; Taylor RW; Tiangyou W; Gibson A; Venables G; Griffiths P; Burn DJ; Turnbull DM. Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Archives of Neurology 2007, 64(4), 553-557.
- Whittaker RG, Schaefer AM, McFarland R, Taylor RW, Walker M, Turnbull DM. Prevalence and progression of diabetes in mitochondrial disease. Diabetologia 2007, 50(10), 2085-2089.
