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Publikationen 2004

 

Bauer, P., F. Laccone, A. Rolfs, U. Wullner, S. Bosch, H. Peters, S. Liebscher, M. Scheible, J. T. Epplen, B. H. Weber, E. Holinski-Feder, H. Weirich-Schwaiger, D. J. Morris-Rosendahl, J. Andrich, O. Riess (2004). Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype. J Med Genet 41(3): 230-2. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Berna, L., V. Gieselmann, H. Poupetova, M. Hrebicek, M. Elleder, J. Ledvinova (2004). Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients. Am J Med Genet A 129(3): 277-81. Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockmann, K., J. Finsterbusch, U. Schara, E. Wilichowski, J. Frahm, F. Hanefeld (2004). Stroke-like pattern in DTI and MRS of childhood mitochondrial leukoencephalopathy. Neuroradiology 46(4): 267-71. Department of Paediatrics and Neuropaediatrics, Georg August University, Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockschnieder, D., C. Lappe-Siefke, S. Goebbels, M. R. Boesl, K. A. Nave, D. Riethmacher (2004). Cell depletion due to diphtheria toxin fragment A after Cre-mediated recombination. Mol Cell Biol 24(17): 7636-42. Zentrum fur Molekulare Neurobiologie, Falkenried 94, 20251 Hamburg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Ding, X. Q., T. Kucinski, O. Wittkugel, E. Goebell, U. Grzyska, M. Gorg, A. Kohlschutter, H. Zeumer (2004). Normal brain maturation characterized with age-related T2 relaxation times: an attempt to develop a quantitative imaging measure for clinical use. Invest Radiol 39(12): 740-6. Department of Neuroradiology, University Hospital Hamburg-Eppendorf, University of Hamburg, Germany. ding@uke.uni-hamburg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Edgar, J. M., M. McLaughlin, D. Yool, S. C. Zhang, J. H. Fowler, P. Montague, J. A. Barrie, M. C. McCulloch, I. D. Duncan, J. Garbern, K. A. Nave, I. R. Griffiths (2004). Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J Cell Biol 166(1): 121-31. Applied Neurobiology Group, Institute of Comparative Medicine, University of Glasgow, Scotland, UK. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Fang, Q., J. Peng, T. Dierks (2004). Post-translational formylglycine modification of bacterial sulfatases by the radical S-adenosylmethionine protein AtsB. J Biol Chem 279(15): 14570-8. 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

 

Grandis, M., M. Leandri, T. Vigo, M. Cilli, M. W. Sereda, G. Gherardi, L. Benedetti, G. Mancardi, M. Abbruzzese, K. A. Nave, L. Nobbio, A. Schenone (2004). Early abnormalities in sciatic nerve function and structure in a rat model of Charcot-Marie-Tooth type 1A disease. Exp Neurol 190(1): 213-23. Department of Neuroscience, Ophthalmology and Genetics, University of Genoa, Via de Toni 5, 16132 Genoa, Italy. mgrandis71@hotmail.com www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Li, Y., K. Brockmann, F. Turecek, C. R. Scott, M. H. Gelb (2004). Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. Clin Chem 50(3): 638-40. Department of Chemistry, University of Washington, Seattle 98195, USA. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Ludwig, A., B. Schlierf, A. Schardt, K. A. Nave, M. Wegner (2004). Sox10-rtTA mouse line for tetracycline-inducible expression of transgenes in neural crest cells and oligodendrocytes. Genesis 40(3): 171-5. Institut fur Biochemie, Universitat Erlangen-Nurnberg, Fahrstrasse 17, 91054 Erlangen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Michailov, G. V., M. W. Sereda, B. G. Brinkmann, T. M. Fischer, B. Haug, C. Birchmeier, L. Role, C. Lai, M. H. Schwab, K. A. Nave (2004). Axonal neuregulin-1 regulates myelin sheath thickness. Science 304(5671): 700-3. Department of Neurogenetics, Max Planck Institute of Experimental Medicine, 37075 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Saravanan, K., N. Schaeren-Wiemers, D. Klein, R. Sandhoff, A. Schwarz, A. Yaghootfam, V. Gieselmann, S. Franken (2004). Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder. Neurobiol Dis 16(2): 396-406. Institute of Physiological Chemistry, Rheinische Friedrich-Wilhelms-Universitat, Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Skoff, R. P., D. A. Bessert, M. Cerghet, M. J. Franklin, U. K. Rout, K. A. Nave, L. Carlock, M. S. Ghandour, D. R. Armant (2004). The myelin proteolipid protein gene modulates apoptosis in neural and non-neural tissues. Cell Death Differ 11(12): 1247-57. Department of Anatomy and Cell Biology, Wayne State University School of Medicine, Detroit, MI 48201, USA. rskoff@med.wayne.edu www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Strauss, U., M. H. Kole, A. U. Brauer, J. Pahnke, R. Bajorat, A. Rolfs, R. Nitsch, R. A. Deisz (2004). An impaired neocortical Ih is associated with enhanced excitability and absence epilepsy. Eur J Neurosci 19(11): 3048-58. Department of Neurology, University Rostock, Gehlsheimer Strasse 20, 18147 Rostock, Germany. ulf.strauss@med.uni-rostock.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Yaghootfam, A., N. Baumann, A. Schwarz, V. Gieselmann (2004). Three novel mutant arylsulfatase A alleles causing metachromatic leukodystrophy. Neurochem Res 29(5): 933-42. Institute of Physiological Chemistry, Rheinische-Friedrich-Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Al-Saktawi, K., M. McLaughlin, M. Klugmann, A. Schneider, J. A. Barrie, M. C. McCulloch, P. Montague, D. Kirkham, K. A. Nave, I. R. Griffiths (2003). Genetic background determines phenotypic severity of the Plp rumpshaker mutation. J Neurosci Res 72(1): 12-24. Applied Neurobiology Group, Institute of Comparative Medicine, University of Glasgow, Bearsden, Glasgow, Scotland. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Bottcher, T., E. Mix, D. Koczan, P. Bauer, J. Pahnke, S. Peters, S. Weinelt, R. Knoblich, U. Strauss, E. Cattaneo, H. J. Thiesen, A. Rolfs (2003). Gene expression profiling of ciliary neurotrophic factor-overexpressing rat striatal progenitor cells (ST14A) indicates improved stress response during the early stage of differentiation. J Neurosci Res 73(1): 42-53. Department of Neurology, University of Rostock, Rostock, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockmann, K., P. Dechent, M. Meins, M. Haupt, J. Sperner, U. Stephani, J. Frahm, F. Hanefeld (2003). Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. J Neurol 250(3): 300-6. Dept. of Paediatrics and Neuropaediatrics, Children's Hospital, Robert-Koch-Str. 40, 37075 Gottingen, Germany. hanefeld@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockmann, K., P. Dechent, B. Wilken, O. Rusch, J. Frahm, F. Hanefeld (2003). Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. Neurology 60(5): 819-25. Department of Pediatrics and Neuropediatrics, Georg-August-University, Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockmann, K., J. Finsterbusch, B. Terwey, J. Frahm, F. Hanefeld (2003). Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI. Neuroradiology 45(3): 137-42. Department of Paediatrics and Neuropaediatrics, Childrens Hospital, Georg-August-University, Robert-Koch-Strasse 40, 37075 Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockmann, K., M. Meins, A. Taubert, R. Trappe, M. Grond, F. Hanefeld (2003). A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neurol 50(2): 100-5. Department of Pediatrics and Neuropediatrics, University of Gottingen, Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Brockmann, K., P. J. Pouwels, P. Dechent, K. M. Flanigan, J. Frahm, F. Hanefeld (2003). Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. Brain Dev 25(1): 45-50. Department of Pediatrics and Neuropediatrics, Georg-August-Universitat, Children's Hospital, Robert-Koch-Strasse 40, 37075 Goettingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Cox, T. M., J. M. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Vom Dahl, D. Elstein, A. Erikson, M. Giralt, R. Heitner, C. Hollak, M. Hrebicek, S. Lewis, A. Mehta, G. M. Pastores, A. Rolfs, M. C. Miranda, A. Zimran (2003). The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 26(6): 513-26. Department of Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK. jbg20@medschl.cam.ac.uk www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Dierks, T., B. Schmidt, L. V. Borissenko, J. Peng, A. Preusser, M. Mariappan, K. von Figura (2003). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme. Cell 113(4): 435-44. Biochemie II, Universitat Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Erb, M., A. J. Steck, K. A. Nave, N. Schaeren-Wiemers (2003). Differential expression of L- and S-MAG upon cAMP stimulated differentiation in oligodendroglial cells. J Neurosci Res 71(3): 326-37. Neurobiology, Department of Research, University Hospital Basel, Pharmacenter, Basel, Switzerland. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Ferdinandusse, S., B. Finckh, Y. C. de Hingh, L. E. Stroomer, S. Denis, A. Kohlschutter, R. J. Wanders (2003). Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency. Mol Genet Metab 79(4): 281-7. Department of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Harzer, K., A. Rolfs, P. Bauer, M. Zschiesche, E. Mengel, J. Backes, B. Kustermann-Kuhn, G. Bruchelt, O. P. van Diggelen, H. Mayrhofer, I. Krageloh-Mann (2003). Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. Neuropediatrics 34(6): 301-6. Department of Neuropediatrics and Child Development (Universitats-Kinderklinik), Tuebingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Horstmann, M., E. Neumaier-Probst, Z. Lukacs, R. Steinfeld, K. Ullrich, A. Kohlschutter (2003). Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion. Neuropediatrics 34(5): 261-4. Children's Hospital, University Hospital Hamburg-Eppendorf, Martinistrasse 52, 20246 Hamburg, Germany. horstman@uke.uni-hamburg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Jurevics, H., J. Hostettler, D. W. Sammond, K. A. Nave, A. D. Toews, P. Morell (2003). Normal metabolism but different physical properties of myelin from mice deficient in proteolipid protein. J Neurosci Res 71(6): 826-34. Neuroscience Center, University of North Carolina, Chapel Hill, North Carolina, USA. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Landgrebe, J., T. Dierks, B. Schmidt, K. von Figura (2003). The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotes. Gene 316: 47-56. Abt. Biochemie II, Universitat Gottingen, Heinrich-Duker-Weg 12, 37073 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Lappe-Siefke, C., S. Goebbels, M. Gravel, E. Nicksch, J. Lee, P. E. Braun, I. R. Griffiths, K. A. Nave (2003). Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nat Genet 33(3): 366-74. Department of Neurogenetics, Max Planck Institute of Experimental Medicine, D-37075 Goettingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Lukacs, Z., A. Keil, V. Peters, A. Kohlschutter, G. F. Hoffmann, M. Cantz, J. Kopitz (2003). Towards quality assurance in the determination of lysosomal enzymes: a two-centre study. J Inherit Metab Dis 26(6): 571-81. Department of Pediatrics, Metabolic Laboratory, University Hospital Hamburg, Hamburg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Peng, J., B. Schmidt, K. von Figura, T. Dierks (2003). Identification of formylglycine in sulfatases by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. J Mass Spectrom 38(1): 80-6. Institut fur Biochemie und Molekulare Zellbiologie, Abt. Biochemie II, Universitat Gottingen, Heinrich-Duker-Weg 12, Germany. jpeng@gwdg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Probst, E. N., C. Hagel, V. Weisz, S. Nagel, O. Wittkugel, H. Zeumer, A. Kohlschutter (2003). Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 53(1): 118-20. Department of Neuroradiology, University Hospital Eppendorf, Hamburg, Germany. eneumaie@uke.uni-hamburg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Rodemer, C., T. P. Thai, B. Brugger, T. Kaercher, H. Werner, K. A. Nave, F. Wieland, K. Gorgas, W. W. Just (2003). Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. Hum Mol Genet 12(15): 1881-95. Universitat Heidelberg, Biochemie-Zentrum Heidelberg (BZH), Im Neuenheimer Feld 328, D-69120 Heidelberg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Rolfs, A., A. H. Koeppen, I. Bauer, P. Bauer, S. Buhlmann, H. Topka, L. Schols, O. Riess (2003). Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17). Ann Neurol 54(3): 367-75. Department of Neurology, University of Rostock, Rostock, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Rubie, C., P. Lichtner, J. Gartner, M. Siekiera, G. Uziel, B. Kohlmann, A. Kohlschutter, T. Meitinger, G. Stober, T. Bettecken (2003). Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? Hum Mutat 21(1): 45-52. Department of Psychiatry and Psychotherapy, University of Wurzburg, Wurzburg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Runker, A. E., U. Bartsch, K. A. Nave, M. Schachner (2003). The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo. J Neurosci 23(1): 277-86. Zentrum fur Molekulare Neurobiologie, Universitat Hamburg, D-20246 Hamburg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Sereda, M. W., G. Meyer zu Horste, U. Suter, N. Uzma, K. A. Nave (2003). Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9(12): 1533-7. Max-Planck Institute of Experimental Medicine, Department of Neurogenetics, Hermann-Rein-Str. 3, D-37075 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Stegmuller, J., H. Werner, K. A. Nave, J. Trotter (2003). The proteoglycan NG2 is complexed with alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors by the PDZ glutamate receptor interaction protein (GRIP) in glial progenitor cells. Implications for glial-neuronal signaling. J Biol Chem 278(6): 3590-8. Department of Neurobiology, University of Heidelberg, Im Neuenheimer Feld 364, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Thiel, C., M. Schwarz, J. Peng, M. Grzmil, M. Hasilik, T. Braulke, A. Kohlschutter, K. von Figura, L. Lehle, C. Korner (2003). A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem 278(25): 22498-505. Georg-August-Universitat Gottingen, Biochemie II, Heinrich-Duker-Weg 12, D-37073 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Weinelt, S., S. Peters, P. Bauer, E. Mix, S. J. Haas, A. Dittmann, S. Petrov, A. Wree, E. Cattaneo, R. Knoblich, U. Strauss, A. Rolfs (2003). Ciliary neurotrophic factor overexpression in neural progenitor cells (ST14A) increases proliferation, metabolic activity, and resistance to stress during differentiation. J Neurosci Res 71(2): 228-36. Neurobiological Laboratory, Department of Neurology, University of Rostock, Rostock, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Wilken, B., P. Dechent, K. Brockmann, J. Finsterbusch, M. Baumann, W. Ebell, G. C. Korenke, P. J. Pouwels, F. A. Hanefeld, J. Frahm (2003). Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation. Neuropediatrics 34(5): 237-46. Abteilung Kinderheilkunde, Schwerpunkt Neuropadiatrie, Georg-August-Universitat Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 

Yaghootfam, A., F. Schestag, T. Dierks, V. Gieselmann (2003). Recognition of arylsulfatase A and B by the UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-phosphotransferase. J Biol Chem 278(35): 32653-61. Institute of Physiological Chemistry, Rheinische-Friedrich-Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi

 



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