P31 Genotypic and phenotypic heterogeneity in adult-onset progressive external ophthalmoplegia (PEO) with mitochondrial DNA instability: a systematic review von Sommerville, E.W, Chinnery, P.F, Gorman, G.S, Taylor, R.W

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Natural history of the heart in myotonic dystrophy type 1: a cardiac magnetic resonance imaging follow-up of 11 patients von Jimenez-Moreno, A.C, Cassidy, S, MacGowan, G, Parikh, J.D, McStay, R, Bates, M, Trenell, M.I, Lochmüller, H, Gorman, G.S

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Clinical research activity in the Newcastle MRC Centre for Neuromuscular Disease von Peel, A, Davis, B, Maddison, J, Boyd, C, Straub, V, Lochmüller, H, Guglieri, M, Turnbull, D.M, Trenell, M.I, Horvath, R, McFarland, R, Gorman, G.S, Miller, J, Bushby, K

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A national cohort study of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) – implications to clinical practice and therapeutic study von Ng, Y.S, Schaefer, A.M, Hall, J, Farrugia, M.E, Roberts, M.E, Baird, T, Hirst, C, Taylor, R.W, Turnbull, D.M, McFarland, R, Gorman, G.S

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A feasibility study of bezafibrate in mitochondrial myopathy von Steele, H.E, Newman, J, Jakovljevic, D.G, Scadeng, A.J, Clark, S.K, Jimenez-Moreno, A.C, Trenell, M.I, Parikh, J.D, Hollingsworth, K.G, Blamire, A.M, Pitceathly, R.D.S, Hanna, M.G, Gorman, G.S, McFarland, R, Turnbull, D.M, Taylor, R.W, Horvath, R, Chinnery, P.F

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Initial development and validation of a mitochondrial disease quality of life scale von Elson, J.L, Cadogan, M, Apabhai, S, Whittaker, R.G, Phillips, A, Trennell, M.I, Horvath, R, Taylor, R.W, McFarland, R, McColl, E, Turnbull, D.M, Gorman, G.S

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P26 Can aerobic exercise improve function in patients with mitochondrial disease? von Newman, J, Galna, B, Jakovljevic, D, Bates, M.G, Schaefer, A.M, McFarland, R, Turnbull, D.M, Trenell, M.I, Taylor, R.W, Rochester, L, Gorman, G.S

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P64 Improving clinical trials evaluation: physiological and functional correlates in mitochondrial disease von Newman, J, Jakovljevic, D, Bates, M.G, Turnbull, D.M, Galna, B, Trenell, M.I, Gorman, G.S

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P59 Processing speed is impaired in patients with Mitochondrial Disease von Moore, H.L, Allerhand, M, Trennell, M, Deary, I.J, Turnbull, D.M, Gorman, G.S

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P78 Habitual physical activity in mitochondrial disease – do we need to intervene? von Gorman, G.S, Apabhai, S, Elson, J.L, Turnbull, D.M, Trenell, M.I

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P32 Mutations in SPG7 cause chronic progressive external ophthalmoplegia through disordered mtDNA maintenance von Gorman, G.S, Pfeffer, G, Griffin, H, Kurzawa-Akanbi, M, Blakely, E.L, Wilson, I, Sitarz, K, Moore, D, Murphy, J.L, Alston, C.L, Pyle, A, Coxhead, J, Payne, B, Gorrie, G.H, Longman, C, Hadjivassiliou, M, McConville, J, Dick, D, Imam, I, Hilton, D, Norwood, F, Baker, M.R, Jaiser, S.R, Yu-Wai-Man, P, Farrell, M, McCarthy, A, Lynch, T, McFarland, R, Schaefer, A.M, Turnbull, D.M, Horvath, R, Taylor, R.W, Chinnery, P.F

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P61 Resistance training in patients with mitochondrial myopathy von Murphy, J.L, Newman, J, Ratnaike, T.E, Spendiff, S, Falkous, G, Blakely, E.L, Alston, C.L, Taylor, R.W, Trenell, M.I, Gorman, G.S, Turnbull, D.M

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P58 Evidence of early cardiac impairment in m.3243A>G mutation carriers von Bates, M.G, Hollingsworth, K.G, Newman, J, Jakovljevic, D, Dixon, B.J, Blamire, A.M, MacGowan, G.A, Keavney, B.D, Chinnery, P.F, Turnbull, D.M, Taylor, R.W, Trenell, M.I, Gorman, G.S

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P60 Expanding the phenotypic and genotypic spectrum of adult RRM2B -related mitochondrial disease von Piceathly, R.D.S, Smith, C, Fratter, C, Blakely, E.L, Alston, C.L, Deschauer, M, Horvath, R, Hanna, M.G, Chinnery, P.F, Turnbull, D.M, Poulton, J, Taylor, R.W, Gorman, G.S

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Multi-system neurological disease is common in patients with OPA1 mutations von Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.

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P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment von Horvath, R, Reilich, P, Krause, S, Turnbull, D.M, Trenell, M, Hollingsworth, K.G, Gorman, G.S, Czermin, B, Holinski-Feder, E, Walter, M.C, Schoser, B, Lochmüller, H

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P71 Development and validation of a mitochondrial disease-specific quality of life scale (Mito-QOL) von Elson, J.L, Cadogan, M, Apabhai, S, Phillips, A, McFarland, R, Whittaker, R, Horvath, R, McColl, E, Turnbull, D.M, Gorman, G.S

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P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle von Fratter, C, Raman, P, Alston, C, 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

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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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