Review: Central nervous system involvement in mitochondrial disease von Lax, N. Z., Gorman, G. S., Turnbull, D. M.

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A case‐comparison study of pregnant women with mitochondrial disease – what to expect? von Feeney, CL, Lim, AZ, Fagan, E, Blain, A, Bright, A, Maddison, J, Devine, H, Stewart, J, Taylor, RW, Gorman, GS, Turnbull, DM, Nesbitt, V, McFarland, R

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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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Systematic review of cognitive deficits in adult mitochondrial disease von Moore, H. L., Blain, A. P., Turnbull, D. M., Gorman, G. S.

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Pharmacokinetics of Perfluorooctanoate in Cynomolgus Monkeys von Butenhoff, J. L., Kennedy, G. L., Hinderliter, P. M., Lieder, P. H., Jung, R., Hansen, K. J., Gorman, G. S., Noker, P. E., Thomford, P. J.

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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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Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA von Nicholls, Thomas J., Nadalutti, Cristina A., Motori, Elisa, Sommerville, Ewen W., Gorman, Gráinne S., Basu, Swaraj, Hoberg, Emily, Turnbull, Doug M., Chinnery, Patrick F., Larsson, Nils-Göran, Larsson, Erik, Falkenberg, Maria, Taylor, Robert W., Griffith, Jack D., Gustafsson, Claes M.

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Proton affinities of the 20 common .alpha.-amino acids von Gorman, Greg S, Speir, J. Paul, Turner, Cheryl A, Amster, I. Jonathan

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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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Remeasurement of ions using quadrupolar excitation Fourier transform ion cyclotron resonance spectrometry von Speir, J. Paul, Gorman, Greg S, Pitsenberger, Cynthia C, Turner, Cheryl A, Wang, Ping P, Amster, I. Jonathan

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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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A comparison of the pharmacokinetics of perfluorobutanesulfonate (PFBS) in rats, monkeys, and humans von Olsen, Geary W, Chang, Shu-Ching, Noker, Patricia E, Gorman, Gregory S, Ehresman, David J, Lieder, Paul H, Butenhoff, John L

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P3462Cardiac manifestations in adult patients with mitochondrial disease arising from nuclear gene mutations: do they benefit from cardiac surveillance? von Jones, D M, Schafer, A M, Bates, M G D, Bourke, J, Gorman, G S, Turnbull, D M, McFarland, R, Ng, Y S

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Fe + chemical ionization of peptides von Speir, J.Paul, Gorman, Greg S., Amster, I.Jonathan

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Controlling the dissociation of peptide ions using laser desorption/chemical ionization Fourier transform mass spectrometry von Speir, J. Paul, Gorman, Greg S, Cornett, D. Shannon, Amster, I. Jonathan

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Gas-phase basicity measurements of dipeptides that contain valine von Gorman, Greg S, Amster, I. Jonathan

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071 Concentric hypertrophic remodelling and subendocardial dysfunction in mitochondrial DNA point mutation carriers von Bates, M G D, Hollingsworth, K G, Newman, J, Jakovljevic, D G, Keavney, B D, Blamire, A M, MacGowan, G A, Chinnery, P F, Turnbull, D M, Taylor, R W, Trenell, M I, Gorman, G S

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Interspecies pharmacokinetics and in vitro metabolism of SQ109 von Jia, Lee, Noker, Patricia E, Coward, Lori, Gorman, Gregory S, Protopopova, Marina, Tomaszewski, Joseph E

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Analysis of the functional capacity outcome measures for myotonic dystrophy von Jimenez‐Moreno, Aura Cecilia, Nikolenko, Nikoletta, Kierkegaard, Marie, Blain, Alasdair P., Newman, Jane, Massey, Charlotte, Moat, Dionne, Sodhi, Jas, Atalaia, Antonio, Gorman, Grainne S., Turner, Chris, Lochmüller, Hanns

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