Search Results - "Czermin, B"

Multi-system neurological disease is common in patients with OPA1 mutations by 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.

“…Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal…”
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The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO by 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

“…Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation…”
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RRM2B MUTATIONS ARE FREQUENT IN FAMILIAL PEO WITH MULTIPLE mtDNA DELETIONS by 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) by 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.

“…These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance…”
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Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita by Kornblum, C., Lutterbey, G. G., Czermin, B., Reimann, J., Von Kleist-Retzow, J.-C., Jurkat-Rott, K., Wattjes, M. P.

“…Kornblum C, Lutterbey GG, Czermin B, Reimann J, von Kleist‐Retzow J‐C, Jurkat‐Rott K, Wattjes MP. Whole‐body high‐field MRI shows no skeletal muscle…”
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P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment by 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 by 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 by 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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P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family by 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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P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? by 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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Drosophila Enhancer of Zeste/ESC Complexes Have a Histone H3 Methyltransferase Activity that Marks Chromosomal Polycomb Sites by Czermin, Birgit, Melfi, Raffaella, McCabe, Donna, Seitz, Volker, Imhof, Axel, Pirrotta, Vincenzo

“…Enhancer of Zeste is a Polycomb Group protein essential for the establishment and maintenance of repression of homeotic and other genes. In the early embryo it…”
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003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene by Horvath, P O, Czermin, B, Gulati, S, Pyle, A, Hassani, A, Foley, C, Taylor, R W, Chinnery, P F

“…Inherited ataxias are heterogeneous disorders affecting both children and adults. The primary cause can be identified in about half of the children and the hit…”
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Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila by Czermin, Birgit, Schotta, Gunnar, Hülsmann, Bastian B, Brehm, Alexander, Becker, Peter B, Reuter, Gunter, Imhof, Axel

“…Modification of histones can have a dramatic impact on chromatin structure and function. Acetylation of lysines within the N‐terminal tail of the histone…”
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P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome by 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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The N-Terminus of Drosophila SU(VAR)3−9 Mediates Dimerization and Regulates Its Methyltransferase Activity by Eskeland, Ragnhild, Czermin, Birgit, Boeke, Jörn, Bonaldi, Tiziana, Regula, Jörg T, Imhof, Axel

“…In most eukaryotes, the histone methyltransferase SU(VAR)3−9 and its orthologues play a major role in the function of centromeric heterochromatin. Although the…”
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P04.2 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU by 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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The sounds of silence--histone deacetylation meets histone methylation by Czermin, Birgit, Imhof, Axel

“…The repression of gene activity and the maintenance of the repressed state are fundamental requirements of cell differentiation, ordered embryonic development…”
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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 by 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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