The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO
Fratter, C, Gorman, G S, Stewart, J D, Buddles, M, Smith, C, Evans, J, Seller, A, Poulton, J, Roberts, M, Hanna, M G, Rahman, S, Omer, S E, Klopstock, T, Schoser, B, Kornblum, C, Czermin, B, Lecky, B, Blakely, E L, Craig, K, Chinnery, P F, Turnbull, D M, Horvath, R, Taylor, R W
Published in Neurology (18.05.2010)
Published in Neurology (18.05.2010)
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Journal Article
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions
Fratter, C, Raman, P, Alston, C L, Blakely, E L, Craig, K, Smith, C, Evans, J, Seller, A, Czermin, B, Hanna, M G, Poulton, J, Brierley, C, Staunton, T G, Turnpenny, P D, Schaefer, A M, Chinnery, P F, Horvath, R, Turnbull, D M, Gorman, G S, Taylor, R W
Published in Neurology (07.06.2011)
Published in Neurology (07.06.2011)
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Journal Article
Homoplasmy, heteroplasmy, and mitochondrial dystonia
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
Published in Neurology (28.08.2007)
Published in Neurology (28.08.2007)
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Journal Article
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
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
Published in Journal of medical genetics (01.03.2009)
Published in Journal of medical genetics (01.03.2009)
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Journal Article
Somatic mitochondrial DNA mutations in adult-onset leukaemia
HE, L, LUO, I, PROCTOR, S. I, MIDDLETON, P. G, BLAKELY, E. L, TAYLOR, R. W, TURNBULL, D. M
Published in Leukemia (01.12.2003)
Published in Leukemia (01.12.2003)
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Journal Article
Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age
Cottrell, D.A., Blakely, E.L., Johnson, M.A., Ince, P.G., Borthwick, G.M., Turnbull, D.M.
Published in Neurobiology of aging (01.03.2001)
Published in Neurobiology of aging (01.03.2001)
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Conference Proceeding
Mitochondrial DNA deletion in “identical” twin brothers
Blakely, E L, He, L, Taylor, R W, Chinnery, P F, Lightowlers, R N, Schaefer, A M, Turnbull, D M
Published in Journal of medical genetics (01.02.2004)
Published in Journal of medical genetics (01.02.2004)
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Journal Article
Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation
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
Published in Neurology (10.02.2009)
Published in Neurology (10.02.2009)
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Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene
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
Published in Neurology (27.04.2004)
Published in Neurology (27.04.2004)
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Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy
Barron, M.J., Chinnery, P.F., Howel, D., Blakely, E.L., Schaefer, A.M., Taylor, R.W., Turnbull, D.M.
Published in Neuromuscular disorders : NMD (01.11.2005)
Published in Neuromuscular disorders : NMD (01.11.2005)
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Journal Article
Role of Mitochondrial DNA Mutations in Disease and Aging
COTTRELL, D. A., BLAKELY, E. L., BORTHWICK, G. M., JOHNSON, M. A., TAYLOR, G. A., BRIERLEY, E. J., INCE, P. G., TURNBULL, D. M.
Published in Annals of the New York Academy of Sciences (01.06.2000)
Published in Annals of the New York Academy of Sciences (01.06.2000)
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Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD
Cottrell, D A, Blakely, E L, Johnson, M A, Ince, P G, Turnbull, D M
Published in Neurology (24.07.2001)
Published in Neurology (24.07.2001)
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Disease progression in patients with single, large-scale mitochondrial DNA deletions
GRADY, John P, CAMPBELL, Georgia, TURNBULL, Doug M, McFARLAND, Robert, RATNAIKE, Thiloka, BLAKELY, Emma L, FALKOUS, Gavin, NESBITT, Victoria, SCHAEFER, Andrew M, MCNALLY, Richard J, GORMAN, Grainne S, TAYLOR, Robert W
Published in Brain (London, England : 1878) (01.02.2014)
Published in Brain (London, England : 1878) (01.02.2014)
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Journal Article
POLRMT mutations impair mitochondrial transcription causing neurological disease
Oláhová, Monika, Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, Ewen W., Blakely, Emma L., Collier, Jack J., Hoberg, Emily, Stránecký, Viktor, Hartmannová, Hana, Bleyer, Anthony J., McBride, Kim L., Bowden, Sasigarn A., Korandová, Zuzana, Pecinová, Alena, Ropers, Hans-Hilger, Kahrizi, Kimia, Najmabadi, Hossein, Tarnopolsky, Mark A., Brady, Lauren I., Weaver, K. Nicole, Prada, Carlos E., Õunap, Katrin, Wojcik, Monica H., Pajusalu, Sander, Syeda, Safoora B., Pais, Lynn, Estrella, Elicia A., Bruels, Christine C., Kunkel, Louis M., Kang, Peter B., Bonnen, Penelope E., Mráček, Tomáš, Kmoch, Stanislav, Gorman, Gráinne S., Falkenberg, Maria, Gustafsson, Claes M., Taylor, Robert W.
Published in Nature communications (18.02.2021)
Published in Nature communications (18.02.2021)
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Journal Article
Resistance training in patients with single, large-scale deletions of mitochondrial DNA
Murphy, Julie L., Blakely, Emma L., Schaefer, Andrew M., He, Langping, Wyrick, Phil, Haller, Ronald G., Taylor, Robert W., Turnbull, Douglass M., Taivassalo, Tanja
Published in Brain (London, England : 1878) (01.11.2008)
Published in Brain (London, England : 1878) (01.11.2008)
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Journal Article
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy
Dombi, Eszter, Diot, Alan, Morten, Karl, Carver, Janet, Lodge, Tiffany, Fratter, Carl, Ng, Yi Shiau, Liao, Chunyan, Muir, Rebecca, Blakely, Emma L, Hargreaves, Iain, Al-Dosary, Mazhor, Sarkar, Gopa, Hickman, Simon J, Downes, Susan M, Jayawant, Sandeep, Yu-Wai-Man, Patrick, Taylor, Robert W, Poulton, Joanna
Published in Neurology (17.05.2016)
Published in Neurology (17.05.2016)
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Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions
Alston, Charlotte L, Schaefer, Andrew M, Raman, Pravrutha, Solaroli, Nicola, Krishnan, Kim J, Blakely, Emma L, He, Langping, Craig, Kate, Roberts, Mark, Vyas, Aashish, Nixon, John, Horvath, Rita, Turnbull, Douglass M, Karlsson, Anna, Gorman, Grainne S, Taylor, Robert W
Published in Neurology (03.12.2013)
Published in Neurology (03.12.2013)
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