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 Publikationen 2005

Bajorat, R., A. U. Brauer, U. Wasner, A. Rolfs, U. Strauss (2005). Functional significance of HCN2/3-mediated I(h) in striatal cells at early developmental stages. J Neurosci Res 82(2): 206-13. Neurobiological Laboratory, Clinic for Neurology, University of Rostock, Rostock, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Brockmann, K., M. A. Simpson, A. Faber, C. Bonnemann, A. H. Crosby, J. Gartner (2005). Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. Neuropediatrics 36(4): 274-8. Department of Pediatrics and Pediatric Neurology, Georg-August-University, Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi
Brockmann, K., S. Stolpe, C. Fels, N. Khan, A. E. Kulozik, A. Pekrun (2005). Moyamoya syndrome associated with hemolytic anemia due to Hb Alesha. J Pediatr Hematol Oncol 27(8): 436-40. Department of Pediatrics and Neuropediatrics, University Hospital Gottingen, Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi
Dickmanns, A., B. Schmidt, M. G. Rudolph, M. Mariappan, T. Dierks, K. von Figura, R. Ficner (2005). Crystal structure of human pFGE, the paralog of the Calpha-formylglycine-generating enzyme. J Biol Chem 280(15): 15180-7. Abteilung Molekulare Strukturbiologie, Institut fur Mikrobiologie und Genetik, Georg-August-Universitat, Justus-von-Liebig Weg 9, D-37077 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Dierks, T., A. Dickmanns, A. Preusser-Kunze, B. Schmidt, M. Mariappan, K. von Figura, R. Ficner, M. G. Rudolph (2005). Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell 121(4): 541-52. Department of Biochemistry II, University of Gottingen, D-37073 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Eckhardt, M., A. Yaghootfam, S. N. Fewou, I. Zoller, V. Gieselmann (2005). A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin. Biochem J 388(Pt 1): 245-54. Institut fur Physiologische Chemie, Rheinische-Friedrich-Wilhelms Universitat Bonn, Nussallee 11, 53115 Bonn, Germany. eckhardt@institut.physiochem.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi
Hadjilambreva, G., E. Mix, A. Rolfs, J. Muller, U. Strauss (2005). Neuromodulation by a cytokine: interferon-beta differentially augments neocortical neuronal activity and excitability. J Neurophysiol 93(2): 843-52. Department of Neurology, Neurobiological Laboratory, University of Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Hanefeld, F. A., K. Brockmann, P. J. Pouwels, B. Wilken, J. Frahm, P. Dechent (2005). Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 65(5): 701-6. Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Henneke, M., N. Preuss, V. Engelbrecht, F. Aksu, E. Bertini, G. Bibat, K. Brockmann, C. Hubner, M. Mayer, V. Mejaski-Bosnjak, S. Naidu, E. Neumaier-Probst, D. Rodriguez, W. Weisz, A. Kohlschutter, J. Gartner (2005). Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children. Neurology 64(8): 1411-6. Department of Pediatrics and Pediatric Neurology, University of Gottingen, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Hubner, C. A., U. Orth, A. Senning, C. Steglich, A. Kohlschutter, R. Korinthenberg, A. Gal (2005). Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum Mutat 25(3): 321-2. Institute of Human Genetics, University Hospital Eppendorf, Hamburg, Germany. c.huebner@uke.uni-hamburg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi
Klein, D., H. Bussow, S. N. Fewou, V. Gieselmann (2005). Exocytosis of storage material in a lysosomal disorder. Biochem Biophys Res Commun 327(3): 663-7. Institut fur Physiologische Chemie, Rheinische Friedrich-Wilhelms-Universitat, Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Lugowska, A., O. Amaral, J. Berger, L. Berna, N. U. Bosshard, A. Chabas, A. Fensom, V. Gieselmann, N. G. Gorovenko, W. Lissens, J. E. Mansson, A. Marcao, H. Michelakakis, H. Bernheimer, N. V. Ol'khovych, S. Regis, R. Sinke, A. Tylki-Szymanska, B. Czartoryska (2005). Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries. Mol Genet Metab 86(3): 353-9. Institute of Psychiatry and Neurology, Department of Genetics, Warsaw, Poland. alugipin@yahoo.com www.ncbi.nlm.nih.gov/entrez/query.fcgi
Marcao, A. M., R. Wiest, K. Schindler, U. Wiesmann, J. Weis, G. Schroth, M. C. Miranda, M. Sturzenegger, V. Gieselmann (2005). Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene. Arch Neurol 62(2): 309-13. Institute of Physiological Chemistry, University of Bonn, Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Mariappan, M., A. Preusser-Kunze, M. Balleininger, N. Eiselt, B. Schmidt, S. L. Gande, D. Wenzel, T. Dierks, K. von Figura (2005). Expression, localization, structural, and functional characterization of pFGE, the paralog of the Calpha-formylglycine-generating enzyme. J Biol Chem 280(15): 15173-9. Institut fur Biochemie und Molekulare Zellbiologie, Abteilung Biochemie II, Universitat Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Matzner, U., V. Gieselmann (2005). Gene therapy of metachromatic leukodystrophy. Expert Opin Biol Ther 5(1): 55-65. Rheinische Friedrich-Wilhelms-Universitat, Institut fur Physiologische Chemie, Nussallee 11, D-53115 Bonn, Germany. matzner@institut.physiochem.uni-bonn.de. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Matzner, U., E. Herbst, K. K. Hedayati, R. Lullmann-Rauch, C. Wessig, S. Schroder, C. Eistrup, C. Moller, J. Fogh, V. Gieselmann (2005). Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 14(9): 1139-52. Institut Fur Physiologische Chemi, Rheinische Friedrich-Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany. matzner@institut.physiochem.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi
Nave, K. A., M. H. Schwab (2005). Glial cells under remote control. Nat Neurosci 8(11): 1420-2. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Ohlenbusch, A., M. Henneke, K. Brockmann, M. Goerg, F. Hanefeld, A. Kohlschutter, J. Gartner (2005). Identification of ten novel mutations in patients with eIF2B-related disorders. Hum Mutat 25(4): 411. Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Osada, T., N. Tamamaki, S. Y. Song, N. Kakazu, Y. Yamazaki, H. Makino, A. Sasaki, T. Hirayama, S. Hamada, K. A. Nave, R. Yanagimachi, T. Yagi (2005). Developmental pluripotency of the nuclei of neurons in the cerebral cortex of juvenile mice. J Neurosci 25(37): 8368-74. Core Research for Evolutional Science and Technology Research Agency, Japan Science and Technology Agency, Kawaguchi, Saitama 332-0012, Japan. osada@libra.ls.m-kagakia.co.jp www.ncbi.nlm.nih.gov/entrez/query.fcgi
Poeppel, P., M. Habetha, A. Marcao, H. Bussow, L. Berna, V. Gieselmann (2005). Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum. Febs J 272(5): 1179-88. Institut fur Physiologische Chemie, Rheinische-Friedrich-Wilhelms Universitat Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Preusser-Kunze, A., M. Mariappan, B. Schmidt, S. L. Gande, K. Mutenda, D. Wenzel, K. von Figura, T. Dierks (2005). Molecular characterization of the human Calpha-formylglycine-generating enzyme. J Biol Chem 280(15): 14900-10. Institut fur Biochemie und Molekulare Zellbiologie, Abteilung Biochemie II, Universitat Gottingen, Heinrich-Duker-Weg 12, 37073 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Rasband, M. N., J. Tayler, Y. Kaga, Y. Yang, C. Lappe-Siefke, K. A. Nave, R. Bansal (2005). CNP is required for maintenance of axon-glia interactions at nodes of Ranvier in the CNS. Glia 50(1): 86-90. Department of Neuroscience, University of Connecticut Health Center, Farmington, Connecticut 06032, USA. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Rolfs, A., T. Bottcher, M. Zschiesche, P. Morris, B. Winchester, P. Bauer, U. Walter, E. Mix, M. Lohr, K. Harzer, U. Strauss, J. Pahnke, A. Grossmann, R. Benecke (2005). Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366(9499): 1794-6. Department of Neurology, University of Rostock, Rostock, Germany. arndt.rolfs@med.uni-rostock.de www.ncbi.nlm.nih.gov/entrez/query.fcgi
Rostasy, K. M., P. Huppke, B. Beckers, K. Brockmann, V. Degenhardt, B. Wesche, F. Konig, J. Gartner (2005). Acute motor and sensory axonal neuropathy (AMSAN) in a 15-year-old boy presenting with severe pain and distal muscle weakness. Neuropediatrics 36(4): 260-4. Department of Pediatrics and Pediatric Neurology, Georg-August University, Gottingen, Germany. Krostasy@excite.com www.ncbi.nlm.nih.gov/entrez/query.fcgi
Saher, G., B. Brugger, C. Lappe-Siefke, W. Mobius, R. Tozawa, M. C. Wehr, F. Wieland, S. Ishibashi, K. A. Nave (2005). High cholesterol level is essential for myelin membrane growth. Nat Neurosci 8(4): 468-75. Department of Neurogenetics, Max Planck Institute of Experimental Medicine, 37075 Goettingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Schneider, A., H. Lander, G. Schulz, H. Wolburg, K. A. Nave, J. B. Schulz, M. Simons (2005). Palmitoylation is a sorting determinant for transport to the myelin membrane. J Cell Sci 118(Pt 11): 2415-23. Department of Neurology, Hertie Institute for Clinical Brain Research, University of Tubingen, Hoppe-Seyler-Strausse 3, 72076 Tubingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Vigo, T., L. Nobbio, P. V. Hummelen, M. Abbruzzese, G. Mancardi, N. Verpoorten, K. Verhoeven, M. W. Sereda, K. A. Nave, V. Timmerman, A. Schenone (2005). Experimental Charcot-Marie-Tooth type 1A: a cDNA microarrays analysis. Mol Cell Neurosci 28(4): 703-14. Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Italy, via De Toni 5, 16132 Genova, Italy. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Wu, S. X., S. Goebbels, K. Nakamura, K. Nakamura, K. Kometani, N. Minato, T. Kaneko, K. A. Nave, N. Tamamaki (2005). Pyramidal neurons of upper cortical layers generated by NEX-positive progenitor cells in the subventricular zone. Proc Natl Acad Sci U S A 102(47): 17172-7. Department of Morphological Brain Science and Laboratory of Immunological Cell Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan. www.ncbi.nlm.nih.gov/entrez/query.fcgi
Yaghootfam, A., V. Gieselmann, M. Eckhardt (2005). Delay of myelin formation in arylsulphatase A-deficient mice. Eur J Neurosci 21(3): 711-20. Institut fur Physiologische Chemie, Rheinische-Friedrich-Wilhelms Universitat Bonn, Nussallee 11, 53115 Bonn, Germany. yaghootfam@institut.physiochem.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

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