The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO von FRATTER, C, GORMAN, G. S, RAHMAN, S, OMER, S. E, KLOPSTOCK, T, SCHOSER, B, KORNBLUM, C, CZERMIN, B, LECKY, B, BLAKELY, E. L, CRAIG, K, CHINNERY, P. F, STEWART, J. D, TURNBULL, D. M, HORVATH, R, TAYLOR, R. W, BUDDLES, M, SMITH, C, EVANS, J, SELLER, A, POULTON, J, ROBERTS, M, HANNA, M. G

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RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS von FRATTER, C, RAMAN, P, 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, ALSTON, C. L, BLAKELY, E. L, CRAIG, K, SMITH, C, EVANS, J, SELLER, A, CZERMIN, B, HANNA, M. G

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Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations von Kinghorn, K. J., Kaliakatsos, M., Blakely, E. L., Taylor, R. W., Rich, P., Clarke, A., Omer, S.

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Homoplasmy, heteroplasmy, and mitochondrial dystonia von MCFARLAND, R, CHINNERY, P. F, TAYLOR, R. W, 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

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Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD von COTTRELL, D. A, BLAKELY, E. L, JOHNSON, M. A, INCE, P. G, TURNBULL, D. M

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URINE HETEROPLASMY IS THE BEST PREDICTOR OF CLINICAL OUTCOME IN THE m.3243A>G mtDNA MUTATION von WHITTAKER, R. G, BLACKWOOD, J. K, ALSTON, C. L, BLAKELY, E. L, ELSON, J. L, MARLAND, R, CHINNERY, P. F, TURNBULL, D. M, TAYLOR, R. W

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children von 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

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Somatic mitochondrial DNA mutations in adult-onset leukaemia von HE, L, LUO, I, PROCTOR, S. I, MIDDLETON, P. G, BLAKELY, E. L, TAYLOR, R. W, TURNBULL, D. M

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Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age von Cottrell, D.A., Blakely, E.L., Johnson, M.A., Ince, P.G., Borthwick, G.M., Turnbull, D.M.

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Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation von 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

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Mitochondrial DNA deletion in “identical” twin brothers von Blakely, E L, He, L, Taylor, R W, Chinnery, P F, Lightowlers, R N, Schaefer, A M, Turnbull, D M

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Neuropathological and Histochemical Changes in a Multiple Mitochondrial DNA Deletion Disorder von COTTRELL, D A, INCE, P G, BLAKELY, E L, JOHNSON, M A, CHINNERY, P F, HANNA, M, TURNBULL, D M

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Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene von 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

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POG08 Novel mitochondrial tRNA mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness von Panicker, J, Taylor, R W, Blakely, E L, Wilson, M

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Cytochrome c oxidase deficient muscle fibres: Substantial variation in their proportions within skeletal muscles from patients with mitochondrial myopathy von Barron, M.J., Chinnery, P.F., Howel, D., Blakely, E.L., Schaefer, A.M., Taylor, R.W., Turnbull, D.M.

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Mitochondrial enzyme-deficient hippocampal neurons and choroidal cells in AD von Cottrell, D A, Blakely, E L, Johnson, M A, Ince, P G, Turnbull, D M

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POLRMT mutations impair mitochondrial transcription causing neurological disease von 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.

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Role of Mitochondrial DNA Mutations in Disease and Aging von COTTRELL, D. A., BLAKELY, E. L., BORTHWICK, G. M., JOHNSON, M. A., TAYLOR, G. A., BRIERLEY, E. J., INCE, P. G., TURNBULL, D. M.

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Disease progression in patients with single, large-scale mitochondrial DNA deletions von 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

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Resistance training in patients with single, large-scale deletions of mitochondrial DNA von Murphy, Julie L., Blakely, Emma L., Schaefer, Andrew M., He, Langping, Wyrick, Phil, Haller, Ronald G., Taylor, Robert W., Turnbull, Douglass M., Taivassalo, Tanja

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