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1

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

Enrico Baruffini, Rita Horvath, Cristina Dallabona, Birgit Czermin, Eleonora Lamantea, Laurence Bindoff, Federica Invernizzi, Iliana Ferrero, Massimo Zeviani, Tiziana Lodi

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 430 KB

english, 2011

2

Case study of sporadic mitochondrial disease with myotonic discharges and optic atrophy

Soysal, Aysun, Yüksel, Burcu, Czermin, Birgit, Aydemir, Selcen, Tuğcu, Betül, Aysal, Fikret, Arpaci, Baki

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 200 KB

english, 2013

3

Mit Haken und Ösen: Die Physik des Kletterns

Tina Czermin, Peter Dullnig, Leopold Mathelitsch, Werner B. Schneider

Journal:

Physik in unserer Zeit

Année:

2001

Langue:

german

Fichier:

PDF, 725 KB

german, 2001

4

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNAValcausing MNGIE-like gastrointestinal dysmotility and cachexia

Rita Horváth, Andreas Bender, Angela Abicht, Elke Holinski-Feder, Birgit Czermin, Tobias Trips, Peter Schneiderat, Hanns Lochmüller, Thomas Klopstock

Journal:

Journal of Neurology

Année:

2009

Langue:

english

Fichier:

PDF, 421 KB

english, 2009

5

Late-onset ptosis and myopathy in a patient with a heterozygous insertion inPOLG2

Maggie C. Walter, Birgit Czermin, Solvig Muller-Ziermann, Stefanie Bulst, Joanna D. Stewart, Gavin Hudson, Peter Schneiderat, Angela Abicht, Elke Holinski-Feder, Hanns Lochmüller, Patrick F. Chinnery,

Journal:

Journal of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 327 KB

english, 2010

6

Acute liver failure with subsequent cirrhosis as the primary manifestation ofTRMUmutations

Ulrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, Patrick Gerner, Angela Pyle, Paul M. Smith, Hanns Lochmüller, Birgit Czermin, Angela Abicht, Elke Holinski-Feder, Rita Horvath

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 560 KB

english, 2011

7

Whole-body high-field MRI shows no skeletal muscle degeneration in young patients with recessive myotonia congenita

C. Kornblum, G. G. Lutterbey, B. Czermin, J. Reimann, J.-C. Von Kleist-Retzow, K. Jurkat-Rott, M. P. Wattjes

Journal:

Acta Neurologica Scandinavica

Année:

2010

Langue:

english

Fichier:

PDF, 192 KB

english, 2010

8

The Sounds of Silence – Histone Deacetylation Meets hisTone Methylation

Birgit Czermin, Axel Imhof

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 103 KB

english, 2003

9

Physical and functional association of SU(VAR)3-9 and HDAC1 in Drosophila

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 373 KB

english, 2001

10

P04.2 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU

U. Schara, J.-C. von Kleist-Retzow, A. Pyle, P.M. Smith, H. Lochmüller, B. Czermin, A. Abicht, E. Holinski-Feder, R. Horváth

Journal:

European Journal of Paediatric Neurology

Année:

2011

Langue:

english

Fichier:

PDF, 51 KB

english, 2011

11

Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy

Kay W. Nolte, Sonja Trepels-Kottek, Dagmar Honnef, Joachim Weis, Christian G. Bien, Andreas van Baalen, Klaus Ritter, Birgit Czermin, Sabine Rudnik-Schöneborn, Norbert Wagner, Martin Häusler

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 2.29 MB

english, 2012

12

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1)

J. Poulton, M. Hirano, A. Spinazzola, M. Arenas Hernandez, C. Jardel, A. Lombès, B. Czermin, R. Horvath, J.W. Taanman, A. Rotig, M. Zeviani, C. Fratter

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2009

Langue:

english

Fichier:

PDF, 134 KB

english, 2009

13

Clinical and neuropathological findings in patients with TACO1 mutations

Jürgen Seeger, Bertold Schrank, Angela Pyle, Rolf Stucka, Ulrich Lörcher, Solvig Müller-Ziermann, Angela Abicht, Birgit Czermin, Elke Holinski-Feder, Hanns Lochmüller, Rita Horvath

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 468 KB

english, 2010

14

P4.60 Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

H.A.L. Tuppen, J. Fehmi, B. Czermin, P. Goffrini, F. Meloni, I. Ferrero, L. He, E.L. Blakely, R. McFarland, R. Horvath, D.M. Turnbull, R.W. Taylor

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 40 KB

english, 2010

15

Deficiency of the mitochondrial phosphate carrier presenting as myopathy and cardiomyopathy in a family with three affected children

Johannes A. Mayr, Franz A. Zimmermann, Rita Horváth, Hans-Christian Schneider, Benedikt Schoser, Elke Holinski-Feder, Birgit Czermin, Peter Freisinger, Wolfgang Sperl

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 833 KB

english, 2011

16

The Prevalence and Natural History of Dominant Optic Atrophy Due to OPA1 Mutations

Patrick Yu-Wai-Man, Philip G. Griffiths, Ailbhe Burke, Peter W. Sellar, Michael P. Clarke, Lawrence Gnanaraj, Desiree Ah-Kine, Gavin Hudson, Birgit Czermin, Robert W. Taylor, Rita Horvath, Patrick F.

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 1.47 MB

english, 2010

17

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

Helen A.L. Tuppen, Janev Fehmi, Birgit Czermin, Paola Goffrini, Francesca Meloni, Iliana Ferrero, Langping He, Emma L. Blakely, Robert McFarland, Rita Horvath, Douglass M. Turnbull, Robert W. Taylor

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 366 KB

english, 2010

18

Drosophila Enhancer of Zeste/ESC Complexes Have a Histone H3 Methyltransferase Activity that Marks Chromosomal Polycomb Sites

Birgit Czermin, Raffaella Melfi, Donna McCabe, Volker Seitz, Axel Imhof, Vincenzo Pirrotta

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 509 KB

english, 2002

19

P75 Infantile reversible COX deficiency myopathy caused by the m.14674T>C mutation in mt-tRNAGlu in a German family

R. Horvath, J.P. Kemp, H.A.L. Tuppen, G. Hudson, A. Pyle, E. Holinski-Feder, A. Abicht, B. Czermin, M.C. Walter, A. Günther-Scholz, P.M. Smith, R. McFarland, Z.M.A. Chrzanowska-Lightowlers, R.N. Light

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 48 KB

english, 2010

20

P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation?

V.C.M. Neeve, B. van den Bosch, G. Van Goethem, L. Bindoff, B. Smeets, A. Lombes, M. Hirano, S. DiMauro, M. De Vries, J. Smeitink, B. Czermin, E. Holinski-Feder, G. Hudson, D.M. Turnbull, R.W. Taylor,

Journal:

Neuromuscular Disorders

Année:

2010

Langue:

english

Fichier:

PDF, 48 KB

english, 2010

21

P60 Dominant and recessive RRM2B mutations cause familial PEO and multiple nit DNA deletions in muscle

C. Fratter, P. Raman, C. Alston, E.L. Blakely, K. Craig, C. Smith, J. Evans, A. Seller, B. Czermin, M.G. Hanna, J. Poulton, C. Brierley, T.G. Staunton, P.D. Turnpenny, A.M. Schaefer, P.F. Chinnery, R.

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 41 KB

english, 2011

22

P64 Neutral lipid storage myopathy due to PNPLA2 mutations may respond to beta-adrenergic treatment

R. Horvath, P. Reilich, S. Krause, D.M. Turnbull, M. Trenell, K.G. Hollingsworth, G.S. Gorman, B. Czermin, E. Holinski-Feder, M.C. Walter, B. Schoser, H. Lochmüller

Journal:

Neuromuscular Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 43 KB

english, 2011

23

ESC, ESCL and their roles in Polycomb Group mechanisms

Katsuhito Ohno, Donna McCabe, Birgit Czermin, Axel Imhof, Vincenzo Pirrotta

Journal:

Mechanisms of Development

Année:

2008

Langue:

english

Fichier:

PDF, 3.25 MB

english, 2008

24

SAMFA: Simplifying Molecular Description for 3D-QSAR

Manchester, John, Czermiński, Ryszard

Journal:

Journal of Chemical Information and Modeling

Année:

2008

Langue:

english

Fichier:

PDF, 832 KB

english, 2008

25

The N-Terminus of Drosophila SU(VAR)3−9 Mediates Dimerization and Regulates Its Methyltransferase Activity †

Eskeland, Ragnhild, Czermin, Birgit, Boeke, Jörn, Bonaldi, Tiziana, Regula, Jörg T., Imhof, Axel

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 387 KB

english, 2004

26

P180 – 1827 NDFUS8-related Complex I Deficiency – “PEO-Plus” and mild Leigh syndrome

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

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 68 KB

english, 2013

27

CAUTION: Popular “Benchmark” Data Sets Do Not Distinguish the Merits of 3D QSAR Methods

Manchester, John, Czermiński, Ryszard

Journal:

Journal of Chemical Information and Modeling

Année:

2009

Langue:

english

Fichier:

PDF, 626 KB

english, 2009

28

Pain sensitivity and vasopressin analgesia are mediated by a gene-sex-environment interaction

Mogil, Jeffrey S, Sorge, Robert E, LaCroix-Fralish, Michael L, Smith, Shad B, Fortin, Anny, Sotocinal, Susana G, Ritchie, Jennifer, Austin, Jean-Sebastien, Schorscher-Petcu, Ara, Melmed, Kara, Czermin

Journal:

Nature Neuroscience

Année:

2011

Langue:

english

Fichier:

PDF, 695 KB

english, 2011

29

003 Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene

Horvath, P. O., Czermin, B., Gulati, S., Pyle, A., Hassani, A., Foley, C., Taylor, R. W., Chinnery, P. F.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

30

Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3

Horvath, R., Czermin, B., Gulati, S., Demuth, S., Houge, G., Pyle, A., Dineiger, C., Blakely, E. L., Hassani, A., Foley, C., Brodhun, M., Storm, K., Kirschner, J., Gorman, G. S., Lochmuller, H., Holin

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2012

Langue:

english

Fichier:

PDF, 421 KB

english, 2012

31

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

Fratter, C., Raman, P., Alston, C. L., 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

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 168 KB

english, 2011

32

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

Kemp, J. P., Smith, P. M., Pyle, A., Neeve, V. C. M., Tuppen, H. A. L., Schara, U., Talim, B., Topaloglu, H., Holinski-Feder, E., Abicht, A., Czermin, B., Lochmuller, H., McFarland, R., Chinnery, P. F

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 442 KB

english, 2011

33

NDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh Syndrome

A. D. Marina, U. Schara, A. Pyle, C. Möller-hartmann, E. Holinski-feder, A. Abicht, B. Czermin, H. Lochmüller, H. Griffin, M. Santibanez-koref, P. F. Chinnery, R. Horvath

Année:

2013

Langue:

english

Fichier:

PDF, 328 KB

english, 2013

34

OPA1 mutations induce mtDNA proliferation in leukocytes of patients with dominant optic atrophy

Sitarz, K. S., Almind, G. J., Horvath, R., Czermin, B., Gronskov, K., Pyle, A., Taylor, R. W., Larsen, M., Chinnery, P. F., Yu-Wai-Man, P.

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 263 KB

english, 2012

35

Respiratory chain deficiency in nonmitochondrial disease

Pyle, A., Nightingale, H. J., Griffin, H., Abicht, A., Kirschner, J., Baric, I., Cuk, M., Douroudis, K., Feder, L., Kratz, M., Czermin, B., Kleinle, S., Santibanez-Koref, M., Karcagi, V., Holinski-Fed

Journal:

Neurology: Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 596 KB

english, 2015