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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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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Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1) von Poulton, J., Hirano, M., Spinazzola, A., Arenas Hernandez, M., Jardel, C., Lombès, A., Czermin, B., Horvath, R., Taanman, J.W., Rotig, A., Zeviani, M., Fratter, C.

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Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita von Kornblum, C., Lutterbey, G. G., Czermin, B., Reimann, J., Von Kleist-Retzow, J.-C., Jurkat-Rott, K., Wattjes, M. P.

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Drosophila Enhancer of Zeste/ESC Complexes Have a Histone H3 Methyltransferase Activity that Marks Chromosomal Polycomb Sites von Czermin, Birgit, Melfi, Raffaella, McCabe, Donna, Seitz, Volker, Imhof, Axel, Pirrotta, Vincenzo

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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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P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation von Tuppen, H.A.L, Fehmi, J, Czermin, B, Goffrini, P, Meloni, F, Ferrero, I, He, L, Blakely, E.L, McFarland, R, Horvath, R, Turnbull, D.M, Taylor, R.W

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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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P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? von Neeve, V.C.M, van den Bosch, B, Van Goethem, G, Bindoff, L, Smeets, B, Lombes, A, Hirano, M, DiMauro, S, De Vries, M, Smeitink, J, Czermin, B, Holinski-Feder, E, Hudson, G, Turnbull, D.M, Taylor, R.W, Chinnery, P.F, Horvath, R

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family von Horvath, R, Kemp, J.P, Tuppen, H.A.L, Hudson, G, Pyle, A, Holinski-Feder, E, Abicht, A, Czermin, B, Walter, M.C, Günther-Scholz, A, Smith, P.M, McFarland, R, Chrzanowska-Lightowlers, Z.M.A, Lightowlers, R.N, Lochmüller, H, Taylor, R.W, Chinnery, P.F

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Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila von Czermin, Birgit, Schotta, Gunnar, Hülsmann, Bastian B, Brehm, Alexander, Becker, Peter B, Reuter, Gunter, Imhof, Axel

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003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene von Horvath, P O, Czermin, B, Gulati, S, Pyle, A, Hassani, A, Foley, C, Taylor, R W, Chinnery, P F

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The N-Terminus of Drosophila SU(VAR)3−9 Mediates Dimerization and Regulates Its Methyltransferase Activity von Eskeland, Ragnhild, Czermin, Birgit, Boeke, Jörn, Bonaldi, Tiziana, Regula, Jörg T, Imhof, Axel

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The sounds of silence--histone deacetylation meets histone methylation von Czermin, Birgit, Imhof, Axel

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P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome von Della Marina, A, Schara, U, Pyle, A, Möller-Hartmann, C, Holinski-Feder, E, Abicht, A, Czermin, B, Lochmüller, H, Griffin, H, Santibanez-Koref, M, Chinnery, PF, Horvath, R

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P04.2 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU von Schara, U., von Kleist-Retzow, J.-C., Pyle, A., Smith, P.M., Lochmüller, H., Czermin, B., Abicht, A., Holinski-Feder, E., Horváth, R.

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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNA Glu in a German family von Horvath, R., Kemp, J.P., Tuppen, H.A.L., Hudson, G., Pyle, A., Holinski-Feder, E., Abicht, A., Czermin, B., Walter, M.C., Günther-Scholz, A., Smith, P.M., McFarland, R., Chrzanowska-Lightowlers, Z.M.A., Lightowlers, R.N., Lochmüller, H., Taylor, R.W., Chinnery, P.F.

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Multi-system neurological disease is common in patients with OPA1 mutations von Yu-Wai-Man, P, Griffiths, PG, Gorman, GS, Lourenco, CM, Wright, AF, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, ML, Caporali, L, Lamperti, C, Tallaksen, CM, Duffey, P, Miller, J, Whittaker, RG, Baker, MR, Jackson, MJ, Clarke, MP, Dhillon, B, Czermin, B, Stewart, JD, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, RW, Turnbull, DM, Votruba, M, Zeviani, M, Carelli, V, Bindoff, LA, Horvath, R, Amati-Bonneau, P, Chinnery, PF

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Mit Haken und Ösen: Die Physik des Kletterns von Czermin, Tina, Dullnig, Peter, Mathelitsch, Leopold, Schneider, Werner B.

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