Title: 2009

Publikationen 2009

Ballabio, A. and V. Gieselmann (2009). "Lysosomal disorders: from storage to cellular damage." Biochim Biophys Acta 1793(4): 684-96.Telethon Institute of Genetics and Medicine (TIGEM), Federico II University, Naples, Italy. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Bauer, P., B. Winner, R. Schule, C. Bauer, V. Hafele, U. Hehr, M. Bonin, M. Walter, K. Karle, T. M. Ringer, O. Riess, J. Winkler and L. Schols (2009). "Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization." Neurogenetics 10(1): 43-8.Department of Medical Genetics, University of Tubingen, Tubingen, Germany. peter.bauer@med.uni-tuebingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Berman, S. B., Y. B. Chen, B. Qi, J. M. McCaffery, E. B. Rucker, 3rd, S. Goebbels, K. A. Nave, B. A. Arnold, E. A. Jonas, F. J. Pineda and J. M. Hardwick (2009). "Bcl-x L increases mitochondrial fission, fusion, and biomass in neurons." J Cell Biol 184(5): 707-19.W. Harry Feinstone Department of Molecular Microbiology and Immunology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Brendel, C., E. Klahold, J. Gartner and P. Huppke (2009). "Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics." Pediatr Res 65(5): 520-3.Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, D-37075 Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Brockmann, K. (2009). "The expanding phenotype of GLUT1-deficiency syndrome." Brain Dev 31(7): 545-52.Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Robert-Koch-Str. 40, 37075 Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Brockmann, K., S. Groschel, S. Dreha-Kulaczewski, K. Reinhardt, J. Gartner and P. Dechent (2009). "Unilateral dilation of virchow-robin spaces in early childhood." Neuropediatrics 40(5): 234-8.Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany. kbrock@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Burk, K., U. Malzig, S. Wolf, S. Heck, K. Dimitriadis, T. Schmitz-Hubsch, S. Hering, T. M. Lindig, V. Haug, D. Timmann, I. Degen, B. Kruse, J. M. Dorr, S. Ratzka, A. Ivo, L. Schols, S. Boesch, T. Klockgether, T. Klopstock and J. B. Schulz (2009). "Comparison of three clinical rating scales in Friedreich ataxia (FRDA)." Mov Disord 24(12): 1779-84.Department of Neurodegeneration and Restorative Research, Centers of Molecular Physiology of the Brain and Neurological Medicine, University of Gottingen, Gottingen, Germany. buerk@ngi.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Busche, A., J. B. Hennermann, F. Burger, H. Proquitte, T. Dierks, A. von Arnim-Baas and D. Horn (2009). "Neonatal manifestation of multiple sulfatase deficiency." Eur J Pediatr 168(8): 969-73.Institute of Medical Genetics, Charite-Universitatsmedizin Berlin, Berlin, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Buser, A. M., B. Erne, H. B. Werner, K. A. Nave and N. Schaeren-Wiemers (2009). "The septin cytoskeleton in myelinating glia." Mol Cell Neurosci 40(2): 156-66.Neurobiology, Department of Biomedicine and Neurology, University Hospital Basel, Pharmacenter 7007, Klingelbergstrasse 50/70, CH-4056 Basel, Switzerland. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Delaunay, D., K. Heydon, A. Miguez, M. Schwab, K. A. Nave, J. L. Thomas, N. Spassky, S. Martinez and B. Zalc (2009). "Genetic tracing of subpopulation neurons in the prethalamus of mice (Mus musculus)." J Comp Neurol 512(1): 74-83.Inserm, U711, Hopital de la Salpetriere, 75013 Paris, France. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Dierks, T., L. Schlotawa, M. A. Frese, K. Radhakrishnan, K. von Figura and B. Schmidt (2009). "Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins." Biochim Biophys Acta 1793(4): 710-25.Department of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany. thomas.dierks@uni-bielefeld.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Dreha-Kulaczewski, S. F., G. Helms, P. Dechent, S. Hofer, J. Gartner and J. Frahm (2009). "Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo's concentric sclerosis." Neuroradiology 51(2): 113-21.Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany. sdreha@gwdg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Edgar, J. M., M. McLaughlin, H. B. Werner, M. C. McCulloch, J. A. Barrie, A. Brown, A. B. Faichney, N. Snaidero, K. A. Nave and I. R. Griffiths (2009). "Early ultrastructural defects of axons and axon-glia junctions in mice lacking expression of Cnp1." Glia 57(16): 1815-24.Applied Neurobiology Group, Institute of Comparative Medicine, University of Glasgow, Bearsden, Glasgow, Scotland, United Kingdom. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Edgar, J. M. and K. A. Nave (2009). "The role of CNS glia in preserving axon function." Curr Opin Neurobiol 19(5): 498-504.Applied Neurobiology Group, Institute of Comparative Medicine, University of Glasgow, Bearsden, Glasgow G61 1QH, Scotland, United Kingdom. J.Edgar@vet.gla.ac.uk www.ncbi.nlm.nih.gov/entrez/query.fcgi


Eichler, F., W. Grodd, E. Grant, M. Sessa, A. Biffi, A. Bley, A. Kohlschuetter, D. J. Loes and I. Kraegeloh-Mann (2009). "Metachromatic leukodystrophy: a scoring system for brain MR imaging observations." AJNR Am J Neuroradiol 30(10): 1893-7.Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. feichler@partners.org www.ncbi.nlm.nih.gov/entrez/query.fcgi


El-Tahir, H. M., M. M. Abouzied, R. Gallitzendoerfer, V. Gieselmann and S. Franken (2009). "Hepatoma-derived growth factor-related protein-3 interacts with microtubules and promotes neurite outgrowth in mouse cortical neurons." J Biol Chem 284(17): 11637-51.Institut fur Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms Universitat, Nussallee 11, 53115 Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Falke, K., A. Buttner, M. Schittkowski, O. Stachs, R. Kraak, A. Zhivov, A. Rolfs and R. Guthoff (2009). "The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study." Graefes Arch Clin Exp Ophthalmol 247(4): 523-34.Department of Ophthalmology, University of Rostock, Rostock, Germany. karen.falke@gmx.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Feldhammer, M., S. Durand, L. Mrazova, R. M. Boucher, R. Laframboise, R. Steinfeld, J. E. Wraith, H. Michelakakis, O. P. van Diggelen, M. Hrebicek, S. Kmoch and A. V. Pshezhetsky (2009). "Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene." Hum Mutat 30(6): 918-25.Department of Medical Genetics, University Hospital Center Sainte-Justine, University of Montreal, Montreal, Canada. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Finsterer, J., H. F. Harbo, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schols, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C. M. Tallaksen, M. Zeviani, J. M. Burgunder and T. Gasser (2009). "EFNS guidelines on the molecular diagnosis of mitochondrial disorders." Eur J Neurol 16(12): 1255-64.Krankenanstalt Rudolfstiftung, Vienna, Danube University Krems, Krems, Austria. fifigs1@yahoo.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Frese, M. A., F. Milz, M. Dick, W. C. Lamanna and T. Dierks (2009). "Characterization of the human sulfatase Sulf1 and its high affinity heparin/heparan sulfate interaction domain." J Biol Chem 284(41): 28033-44.Fakultat fur Chemie, Biochemie I, Universitat Bielefeld, 33615 Bielefeld, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Fuchs, H., V. Gailus-Durner, T. Adler, J. A. Pimentel, L. Becker, I. Bolle, M. Brielmeier, J. Calzada-Wack, C. Dalke, N. Ehrhardt, N. Fasnacht, B. Ferwagner, U. Frischmann, W. Hans, S. M. Holter, G. Holzlwimmer, M. Horsch, A. Javaheri, M. Kallnik, E. Kling, C. Lengger, H. Maier, I. Mossbrugger, C. Morth, B. Naton, U. Noth, B. Pasche, C. Prehn, G. Przemeck, O. Puk, I. Racz, B. Rathkolb, J. Rozman, K. Schable, R. Schreiner, A. Schrewe, C. Sina, R. Steinkamp, F. Thiele, M. Willershauser, R. Zeh, J. Adamski, D. H. Busch, J. Beckers, H. Behrendt, H. Daniel, I. Esposito, J. Favor, J. Graw, G. Heldmaier, H. Hofler, B. Ivandic, H. Katus, M. Klingenspor, T. Klopstock, A. Lengeling, M. Mempel, W. Muller, S. Neschen, M. Ollert, L. Quintanilla-Martinez, P. Rosenstiel, J. Schmidt, S. Schreiber, K. Schughart, H. Schulz, E. Wolf, W. Wurst, A. Zimmer and M. Hrabe de Angelis (2009). "The German Mouse Clinic: a platform for systemic phenotype analysis of mouse models." Curr Pharm Biotechnol 10(2): 236-43.Inst. of Exp. Genetics, Helmholtz Zentrum Munchen, German Res. Center for Environ. Health, Munich/Neuherberg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Gao, Z., K. Ure, J. L. Ables, D. C. Lagace, K. A. Nave, S. Goebbels, A. J. Eisch and J. Hsieh (2009). "Neurod1 is essential for the survival and maturation of adult-born neurons." Nat Neurosci 12(9): 1090-2.Department of Molecular Biology and Cecil H. and Ida Green Center for Reproductive Biology Sciences, University of Texas Southwestern Medical Center, Dallas, Texas, USA. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Gasser, T., J. Finsterer, J. Baets, C. Van Broeckhoven, S. Di Donato, B. Fontaine, P. De Jonghe, A. Lossos, T. Lynch, C. Mariotti, L. Schols, A. Spinazzola, Z. Szolnoki, S. J. Tabrizi, C. M. Tallaksen, M. Zeviani, J. M. Burgunder and H. F. Harbo (2009). "EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias." Eur J Neurol.Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Gieselmann, V. (2009). "Maximizing the therapeutic potential of enzyme replacement therapy for lysosomal storage diseases." Int J Clin Pharmacol Ther 47(12): 707-8 www.ncbi.nlm.nih.gov/entrez/query.fcgi


Gieselmann, V. and T. Braulke (2009). "Lysosomes." Biochim Biophys Acta 1793(4): 603-4 www.ncbi.nlm.nih.gov/entrez/query.fcgi


Gieselmann, V. and G. Pintos-Morell (2009). "Disease pathogenesis--basic science." Int J Clin Pharmacol Ther 47 Suppl 1: S7-8.Institut fur Physiologische Chemie, Rheinische Friedrich-Wilhelms-Universitat Bonn, Bonn, Germany. gieselmann@ibmb.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Guimond, S. E., T. M. Puvirajesinghe, M. A. Skidmore, I. Kalus, T. Dierks, E. A. Yates and J. E. Turnbull (2009). "Rapid purification and high sensitivity analysis of heparan sulfate from cells and tissues: toward glycomics profiling." J Biol Chem 284(38): 25714-22.Centre for Glycobiology, School of Biological Sciences, University of Liverpool, Liverpool L69 7ZB, United Kingdom. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Gulbagci, N. T., L. Li, B. Ling, S. Gopinadhan, M. Walsh, M. Rossner, K. A. Nave and R. Taneja (2009). "SHARP1/DEC2 inhibits adipogenic differentiation by regulating the activity of C/EBP." EMBO Rep 10(1): 79-86.Department of Developmental and Regenerative Biology, Mount Sinai School of Medicine, New York, New York 10029, USA. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Hans, M., A. Pusch, L. Dai, K. Racke, D. Swandulla, V. Gieselmann and J. Kappler (2009). "Lysosulfatide regulates the motility of a neural precursor cell line via calcium-mediated process collapse." Neurochem Res 34(3): 508-17.Institute of Physiology II, University of Bonn, Wilhelmstr. 31, 53111 Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Hauke, J., M. Riessland, S. Lunke, I. Y. Eyupoglu, I. Blumcke, A. El-Osta, B. Wirth and E. Hahnen (2009). "Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition." Hum Mol Genet 18(2): 304-17.Institute of Human Genetics, University ofCologne, Cologne, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Henneke, M., S. Diekmann, A. Ohlenbusch, J. Kaiser, V. Engelbrecht, A. Kohlschutter, R. Kratzner, M. Madruga-Garrido, M. Mayer, L. Opitz, D. Rodriguez, F. Ruschendorf, J. Schumacher, H. Thiele, S. Thoms, R. Steinfeld, P. Nurnberg and J. Gartner (2009). "RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection." Nat Genet 41(7): 773-5.Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Huttemann, M., Z. Zhang, C. Mullins, D. Bessert, I. Lee, K. A. Nave, S. Appikatla and R. P. Skoff (2009). "Different proteolipid protein mutants exhibit unique metabolic defects." ASN Neuro 1(3).*Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI 48201, U.S.A. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Imgrund, S., D. Hartmann, H. Farwanah, M. Eckhardt, R. Sandhoff, J. Degen, V. Gieselmann, K. Sandhoff and K. Willecke (2009). "Adult ceramide synthase 2 (CERS2)-deficient mice exhibit myelin sheath defects, cerebellar degeneration, and hepatocarcinomas." J Biol Chem 284(48): 33549-60.Institute of Genetics, Division of Molecular Genetics, University of Bonn, Romerstrasse 164, 53117 Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Kappler, J., O. Hegener, S. L. Baader, S. Franken, V. Gieselmann, H. Haberlein and U. Rauch (2009). "Transport of a hyaluronan-binding protein in brain tissue." Matrix Biol 28(7): 396-405.Institut fur Biochemie und Molekularbiologie, Nussallee 11, Rheinische Friedrich-Wilhelms-Universitat Bonn, 53115 Bonn, Germany. kappler@ibmb.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Klein, D., A. Yaghootfam, U. Matzner, B. Koch, T. Braulke and V. Gieselmann (2009). "Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells." Biol Chem 390(1): 41-8.Institut fur Physiologische Chemie, Rheinische Friedrich-Wilhelms-Universitat, Nussallee 11, D-53115 Bonn, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Krause, C., H. Rosewich and J. Gartner (2009). "Rational diagnostic strategy for Zellweger syndrome spectrum patients." Eur J Hum Genet 17(6): 741-8.Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Georg August University, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Kroner, A., N. Schwab, C. W. Ip, C. Leder, K. A. Nave, M. Maurer, H. Wiendl and R. Martini (2009). "PD-1 regulates neural damage in oligodendroglia-induced inflammation." PLoS One 4(2): e4405.Department of Neurology, University of Wuerzburg, Wuerzburg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Kroner, A., N. Schwab, C. W. Ip, S. Ortler, K. Gobel, K. A. Nave, M. Maurer, R. Martini and H. Wiendl (2009). "Accelerated course of experimental autoimmune encephalomyelitis in PD-1-deficient central nervous system myelin mutants." Am J Pathol 174(6): 2290-9.Clinical Research Group for MS and Neuroimmunology, Department of Neurology, University of Wuerzburg, Josef Schneider Strasse 11, 97080 Wuerzburg, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Kuchar, L., J. Ledvinova, M. Hrebicek, H. Myskova, L. Dvorakova, L. Berna, P. Chrastina, B. Asfaw, M. Elleder, M. Petermoller, H. Mayrhofer, M. Staudt, I. Krageloh-Mann, B. C. Paton and K. Harzer (2009). "Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations." Am J Med Genet A 149A(4): 613-21.Charles University in Prague, 1st Medical Faculty, Institute of Inherited Metabolic Disorders of 1st Faculty of Medicine and General Teaching Hospital, Prague, Czech Republic. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Leal, A., K. Huehne, F. Bauer, H. Sticht, P. Berger, U. Suter, B. Morera, G. Del Valle, J. R. Lupski, A. Ekici, F. Pasutto, S. Endele, R. Barrantes, C. Berghoff, M. Berghoff, B. Neundorfer, D. Heuss, T. Dorn, P. Young, L. Santolin, T. Uhlmann, M. Meisterernst, M. W. Sereda, R. M. Stassart, G. M. Zu Horste, K. A. Nave, A. Reis and B. Rautenstrauss (2009). "Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models." Neurogenetics.Institute of Human Genetics, Friedrich-Alexander University, Schwabachanlage 10, 91054, Erlangen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Matzner, U., B. Breiden, G. Schwarzmann, A. Yaghootfam, A. L. Fluharty, A. Hasilik, K. Sandhoff and V. Gieselmann (2009). "Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy." J Biol Chem 284(14): 9372-81.Institut fur Physiologische Chemie and LIMES, Membrane Biology and Lipid Biochemistry Unit, c/o Kekule-Institut fur Organische Chemie und Biochemie, Rheinische Friedrich-Wilhelms-University, 53115 Bonn, Germany. matzner@institut.physiochem.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Matzner, U., R. Lullmann-Rauch, S. Stroobants, C. Andersson, C. Weigelt, C. Eistrup, J. Fogh, R. D'Hooge and V. Gieselmann (2009). "Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy." Mol Ther 17(4): 600-6.Institut fur Physiologische Chemie, Rheinische Friedrich-Wilhelms-Universitat, Bonn, Germany. matzner@institut.physiochem.uni-bonn.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Morfini, G. A., M. Burns, L. I. Binder, N. M. Kanaan, N. LaPointe, D. A. Bosco, R. H. Brown, Jr., H. Brown, A. Tiwari, L. Hayward, J. Edgar, K. A. Nave, J. Garberrn, Y. Atagi, Y. Song, G. Pigino and S. T. Brady (2009). "Axonal transport defects in neurodegenerative diseases." J Neurosci 29(41): 12776-86.Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, Illinois 60612, USA. gmorfini@uic.edu www.ncbi.nlm.nih.gov/entrez/query.fcgi


Nawaz, S., A. Kippert, A. S. Saab, H. B. Werner, T. Lang, K. A. Nave and M. Simons (2009). "Phosphatidylinositol 4,5-bisphosphate-dependent interaction of myelin basic protein with the plasma membrane in oligodendroglial cells and its rapid perturbation by elevated calcium." J Neurosci 29(15): 4794-807.Max Planck Institute of Experimental Medicine, University of Gottingen, D-37075 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Pal, A., R. Kraetzner, T. Gruene, M. Grapp, K. Schreiber, M. Gronborg, H. Urlaub, S. Becker, A. R. Asif, J. Gartner, G. M. Sheldrick and R. Steinfeld (2009). "Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis." J Biol Chem 284(6): 3976-84.Department of Structural Chemistry, University of Gottingen, Tammannstrasse 4, 34077 Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Pohl, S., S. Tiede, M. Castrichini, M. Cantz, V. Gieselmann and T. Braulke (2009). "Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma." Biochim Biophys Acta 1792(3): 221-5.Department of Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf Martinistrasse 52, Building N27, 20246 Hamburg, Germany. s.pohl@uke.uni-hamburg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Reetz, K., R. Lencer, J. M. Hagenah, C. Gaser, V. Tadic, U. Walter, A. Wolters, S. Steinlechner, C. Zuhlke, K. Brockmann, C. Klein, A. Rolfs and F. Binkofski (2009). "Structural Changes Associated with Progression of Motor Deficits in Spinocerebellar Ataxia 17." Cerebellum.Department of Neurology, RWTH Aachen University, Aachen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Rice, G. I., J. Bond, A. Asipu, R. L. Brunette, I. W. Manfield, I. M. Carr, J. C. Fuller, R. M. Jackson, T. Lamb, T. A. Briggs, M. Ali, H. Gornall, L. R. Couthard, A. Aeby, S. P. Attard-Montalto, E. Bertini, C. Bodemer, K. Brockmann, L. A. Brueton, P. C. Corry, I. Desguerre, E. Fazzi, A. G. Cazorla, B. Gener, B. C. Hamel, A. Heiberg, M. Hunter, M. S. van der Knaap, R. Kumar, L. Lagae, P. G. Landrieu, C. M. Lourenco, D. Marom, M. F. McDermott, W. van der Merwe, S. Orcesi, J. S. Prendiville, M. Rasmussen, S. A. Shalev, D. M. Soler, M. Shinawi, R. Spiegel, T. Y. Tan, A. Vanderver, E. L. Wakeling, E. Wassmer, E. Whittaker, P. Lebon, D. B. Stetson, D. T. Bonthron and Y. J. Crow (2009). "Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response." Nat Genet 41(7): 829-32.Academic Unit of Medical Genetics, University of Manchester, Manchester, UK. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Saher, G., S. Quintes, W. Mobius, M. C. Wehr, E. M. Kramer-Albers, B. Brugger and K. A. Nave (2009). "Cholesterol regulates the endoplasmic reticulum exit of the major membrane protein P0 required for peripheral myelin compaction." J Neurosci 29(19): 6094-104.Department of Neurogenetics, Max Planck Institute of Experimental Medicine, 37075 Goettingen, Germany. saher@em.mpg.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Saito, K., V. Dubreuil, Y. Arai, M. Wilsch-Brauninger, D. Schwudke, G. Saher, T. Miyata, G. Breier, C. Thiele, A. Shevchenko, K. A. Nave and W. B. Huttner (2009). "Ablation of cholesterol biosynthesis in neural stem cells increases their VEGF expression and angiogenesis but causes neuron apoptosis." Proc Natl Acad Sci U S A 106(20): 8350-5.Max Planck Institute of Molecular Cell Biology and Genetics, Dresden, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schardt, A., B. G. Brinkmann, M. Mitkovski, M. W. Sereda, H. B. Werner and K. A. Nave (2009). "The SNARE protein SNAP-29 interacts with the GTPase Rab3A: Implications for membrane trafficking in myelinating glia." J Neurosci Res 87(15): 3465-79.Department of Neurogenetics, Max-Planck-Institute of Experimental Medicine, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schneider, A., A. Hasan, S. Hirschel, C. Wilhelm, J. Kohlhase, P. Falkai, J. Gartner, R. Steinfeld, T. Wobrock and D. Degner (2009). "A novel mutation of the arylsulfatase A gene in late-onset metachromatic leukodystrophy." J Clin Psychiatry 70(12): 1724-5 www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schule, R., M. Bonin, A. Durr, S. Forlani, A. D. Sperfeld, S. Klimpe, J. C. Mueller, A. Seibel, B. P. van de Warrenburg, P. Bauer and L. Schols (2009). "Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24." Neurology 72(22): 1893-8.Department of Neurology, University of Tubingen, Tubingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schule, R., E. Brandt, K. N. Karle, M. Tsaousidou, S. Klebe, S. Klimpe, M. Auer-Grumbach, A. H. Crosby, C. A. Hubner, L. Schols, T. Deufel and C. Beetz (2009). "Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia." Neurogenetics 10(2): 97-104.Sektion Klinische Neurogenetik, Hertie Institut fur Klinische Hirnforschung, Tubingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schule, R., N. Schlipf, M. Synofzik, S. Klebe, S. Klimpe, U. Hehr, B. Winner, T. Lindig, A. Dotzer, O. Riess, J. Winkler, L. Schols and P. Bauer (2009). "Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia." J Neurol Neurosurg Psychiatry 80(12): 1402-4.Department of Neurology, University of Tubingen, Tubingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schulte, C., M. Synofzik, T. Gasser and L. Schols (2009). "Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations." Neurology 73(11): 898-900.Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tuebingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Schulz, J. B., S. Boesch, K. Burk, A. Durr, P. Giunti, C. Mariotti, F. Pousset, L. Schols, P. Vankan and M. Pandolfo (2009). "Diagnosis and treatment of Friedreich ataxia: a European perspective." Nat Rev Neurol 5(4): 222-34.Department of Neurology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, Aachen, Germany. jschulz@ukaachen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Semmler, A., X. Bao, G. Cao, W. Kohler, M. Weller, P. Aubourg and M. Linnebank (2009). "Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample." J Neurol 256(8): 1277-80.Department of Neurology, University Hospital Zurich, Zurich, Switzerland. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Sidransky, E., M. A. Nalls, J. O. Aasly, J. Aharon-Peretz, G. Annesi, E. R. Barbosa, A. Bar-Shira, D. Berg, J. Bras, A. Brice, C. M. Chen, L. N. Clark, C. Condroyer, E. V. De Marco, A. Durr, M. J. Eblan, S. Fahn, M. J. Farrer, H. C. Fung, Z. Gan-Or, T. Gasser, R. Gershoni-Baruch, N. Giladi, A. Griffith, T. Gurevich, C. Januario, P. Kropp, A. E. Lang, G. J. Lee-Chen, S. Lesage, K. Marder, I. F. Mata, A. Mirelman, J. Mitsui, I. Mizuta, G. Nicoletti, C. Oliveira, R. Ottman, A. Orr-Urtreger, L. V. Pereira, A. Quattrone, E. Rogaeva, A. Rolfs, H. Rosenbaum, R. Rozenberg, A. Samii, T. Samaddar, C. Schulte, M. Sharma, A. Singleton, M. Spitz, E. K. Tan, N. Tayebi, T. Toda, A. R. Troiano, S. Tsuji, M. Wittstock, T. G. Wolfsberg, Y. R. Wu, C. P. Zabetian, Y. Zhao and S. G. Ziegler (2009). "Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease." N Engl J Med 361(17): 1651-61.Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD 20892-3708, USA. sidranse@mail.nih.gov www.ncbi.nlm.nih.gov/entrez/query.fcgi


Steinfeld, R., M. Grapp, R. Kraetzner, S. Dreha-Kulaczewski, G. Helms, P. Dechent, R. Wevers, S. Grosso and J. Gartner (2009). "Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism." Am J Hum Genet 85(3): 354-63.Department of Pediatrics and Pediatric Neurology, Georg August University Gottingen, Gottingen, Germany. rsteinfeld@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Thoms, S., S. Gronborg and J. Gartner (2009). "Organelle interplay in peroxisomal disorders." Trends Mol Med 15(7): 293-302.Department of Pediatrics and Pediatric Neurology, Georg August University Gottingen, Robert-Koch-Strasse 40, 37075 Gottingen, Germany. sven.thoms@med.uni-goettingen.de www.ncbi.nlm.nih.gov/entrez/query.fcgi


Go back to the regular design...