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Publikationen von Mitgliedern des Leukonet

Eine Auswahl neuerer Arbeiten von Mitgliedern des LEUKONET, die sich mit Leukodystrophiefragen beschäftigen


Letzte Änderung 05.10.2012


Veröffentlichungen 2010 - 2012

 

 

Blaschka F, Synofzik M, Schols L, Rau I, Gal A, Mussig K (2011) [Rare differential diagnosis of primary adrenal insufficiency: case 6/2011]. Deutsche Medizinische Wochenschrift (1946). 136(24):1316


Blum, K. S., C. Hagel, E. Neuen-Jacob, P. Herkenrath, J. Fiehler, A. Kohlschutter, H. Lanfermann and X. Q. Ding (2012). "Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?" J Child Neurol 27(2): 229-33.


Brockmann K, Dechent P, Hanefeld F. MR spectroscopy in pediatric white matter disease. In: Gillard J, Waldman A, Barker P (eds.) (2010) Clinical MR Neuroimaging. Diffusion, Perfusion and Spectroscopy. Cambridge University Press, Cambridge. 2nd edition.


Clas P, Wilke M, Gröschel S (2012) Determining the Demyelination Load in Metachromatic Leukodystrophy, Acad Radiol 19:26–34


de Monasterio-Schrader P, Jahn O, Tenzer S, Wichert SP, Patzig J, Werner HB (2012) Systematic approaches to central nervous system myelin. Cellular and Molecular Life Sciences; Epub ahead of print


Dhaunchak AS, Colman DR, Nave KA (2011) Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease. J Neurosci 31(42): 14961-71.


Diekmann S, Henneke M, Burckhardt BC, Gärtner J (2010) Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction. Eur J Hum Genet 18:985-992.


Ding, X. Q., A. Bley, A. Ohlenbusch, A. Kohlschutter, J. Fiehler, W. Zhu and H. Lanfermann (2012). Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study. J Magn Reson Imaging 35(4): 926-32.


Dreha-Kulaczewski S, Brockmann K, Henneke M, Dechent P, Gärtner J, Helms G (2012) Assessment of Myelination in Hypomyelinating Disorders by Quantitative MRI. Angenommen bei JMRI.


Eckhardt M (2010) Pathology and current treatment of neurodegenerative sphingolipidoses. Neuromolecular Med 12:362-382.


Edgar JM, McCulloch MC, Montague P, Brown AM, Thilemann S, Pratola L, Gruenenfelder FI, Griffiths IR, Nave KA (2010) Demyelination and axonal preservation in a transgenic mouse model of Pelizaeus-Merzbacher disease. EMBO Mol Med 2:42-50.


Faldini E, Stroobants S, Lüllmann-Rauch R, Eckhardt M, Gieselmann V, Balschun D, D'Hooge R (2011) Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy. Behav Brain Res 222:309-314.


Fünfschilling U, Supplie LM, Mahad D, Boretius S, Saab AS, Edgar J, Brinkmann BG, Kassmann CM, Tzvetanova ID, Möbius W, Diaz F, Meijer D, Suter U, Hamprecht B, Sereda MW, Moraes CT, Frahm J, Goebbels S, Nave KA (2012) Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity.Nature. 485:517


Gieselmann V, Krägeloh-Mann I (2010) Metachromatic Leukodystrophy – An Update Neuropediatrics 41(1):1-6.


Goebbels S, Oltrogge JH, Wolfer S, Wieser GL, Nientiedt T, Pieper A, Ruhwedel T, Groszer M, Sereda MW, Nave KA (2012) Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy. EMBO Molecular Medicine 4:486


Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R (2012) Molecular characterization of FOLR1 mutations delineates cerebral folate transport deficiency. Brain 135:2022-2031.


Griese M, Brasch F, Aldana VR, Cabrera MM, Goelnitz U, Ikonen E, Karam BJ, Liebisch G, Linder MD, Lohse P, Meyer W, Schmitz G, Pamir A, Ripper J, Rolfs A, Schams A, Lezana FJ (2010) Respiratory disease in Niemann-Pick type C2 is caused by pulmonary alveolar proteinosis. Clin Genet. 77:119-30.


Groeschel S, Kehrer C, Engel C, Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I (2011) Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis 34(5):1095-102.


Groeschel S, í Dali Ch, Clas P, Böhringer J, Dunoe M, Krarup C, Kehrer C, Wilke M, Krägeloh-Mann I (2012) Brain morphometry in children with late-infantile Metachromatic Leukodystrophy, Neurology in press


Henneke, M., S. Dreha-Kulaczewski, K. Brockmann, M. van der Graaf, M. A. Willemsen, U. Engelke, P. Dechent, A. Heerschap, G. Helms, R. A. Wevers and J. Gartner (2010). "In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency." NMR Biomed.Department of Pediatrics and Pediatric Neurology, Georg August University, Gottingen, Germany. www.ncbi.nlm.nih.gov/entrez/query.fcgi


Haud N, Firat KF, Diekmann S, Henneke M, Willer JR, Hillwig MS, Gregg RG MacIntosh GC, Gärtner J, Alia A, Hurlstone AFL (2011) rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA. Proc Natl Acad Sci USA108:1099-1103.


Henneke M, Dreha-Kulaczewski S, Brockmann K, van der Graaf M, Willemsen MA, Engelke U, Dechent P, Heerschap A, Helms G, Wevers RA, Gärtner J (2010) In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency. NMR Biomed 23:441-445.


Henneke M, Gegner S, Hahn A, Plecko-Startinig B, Weschke B, Gärtner J, Brockmann K (2010) Clinical neurophysiology in GJA12-related hypomyelination versus Pelizaeus-Merzbacher Disease. Neurology 74:1785-1789.


Huppke P, Brendel C, Kalscheuer V, Korenke GC, Marquardt I, Freisinger P, Christodoulou J, Hillebrand M, Pitelet G, Wilson C, Gruber-Sedlmayr U, Ullmann R, Haas S, Elpeleg O, Nürnberg G, Nürnberg P, Dad S, Birk Møller L, Kaler SG, Gärtner J (2012): Mutations in SLC33A1 cause a lethal autosomal recessive disorder with congenital cataracts and hearing loss associated with low serum copper and ceruloplasmin. Am J Hum Genet 90:61-68.


Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I (2011) The natural course of gross motor deterioration in metachromatic leukodystrophy. Dev Med Child Neurol. 53(9):850-5.


Kehrer C, Blumenstock G, Raabe C, Krägeloh-Mann I (2011) Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy Dev Med Child Neurol 53(2):156-60.


Köhler W (2010). Leukodystrophies with late disease onset: an update. Curr Opin Neurol. 23(3):234-41.


Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A, Schöls L (2010) Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults. Brain Dev. 32:82-89.


Kohlschütter, A, Eichler, F (2011). Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother 11(10): 1485-96.


Krägeloh-Mann I, Groeschel S, Kehrer C, Opherk K, Nägele T, Handgretinger R, Müller I (2012) Juvenile metachromatic leukodystrophy 10 years post-transplant compared to a non-transplanted cohort, BMT in press


Nave KA (2010) Myelination and support of axonal integrity by glia. Nature 468:244


Nave KA (2010) Myelination and the trophic support of long axons. Nat Rev Neurosci 11:275.


Nave, K. A. (2010). "Oligodendrocytes and the "micro brake" of progenitor cell proliferation." Neuron 65(5): 577-9.


Patzig J, Jahn O, Tenzer S, Wichert SP, de Monasterio-Schrader P, Rosfa S, Kuharev J, Yan K, Bormuth I, Bremer J, Aguzzi A, Orfaniotou F, Hesse D, Schwab MH, Möbius W, Nave KA, Werner HB (2011) Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci. Journal of Neuroscience 31:16369


Rolfs A, Wittmann J, Karg E, Sandor T, Legnini E, Wittmann G, Giese AK, Lukas J, Gölnitz U, Klingenhäger M, Bodamer O, Mühl A (2012) Newborn Screening for Lysosomal Storage Disorders in Hungary; JIMD Reports Volume 6, pp 117-125.


Saher G, Rudolphi F, Corthals K, Ruhwedel T, Schmidt KF, Löwel S, Dibaj P, Barrette B, Möbius W, Nave KA (2012) Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet. Nat Med, epub ahead of print, doi: 10.1038/nm.2833


Schroder, S., F. Matthes, P. Hyden, C. Andersson, J. Fogh, S. Muller-Loennies, T. Braulke, V. Gieselmann and U. Matzner (2010). "Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines." Glycobiology 20(2): 248-59.


Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L (2011) Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. Journal of Medical Genetics. 48(10):713-715


Van der Knaap MS, Lai V, Köhler W, Salih MA, Fonseca MJ, Benke TA, Wilson C, Jayakar P, Aine M, Dom L, Lynch B, Kálmánchey R, Pietsch P, Errami A, Scheper GC (2010) Megalencephalic leukoencephalopathy with cysts without MLC1 defect – two phenotypes. Ann Neurol. 67(6):834-7.


van Zyl R, Gieselmann V, Eckhardt M (2010) Elevated sulfatide levels in neurons cause lethal audiogenic seizures in mice. J Neurochem 112:282-295.


Weber T, Köhler W (2010) Entmarkungskrankheiten. Nervenarzt. 81(4):471-96.).

 

Weimar C, Schlamann M, Krägeloh-Mann I, Schöls L (2012) L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults. Clin Neurol Neurosurg. [Epub ahead of print]

 

Werner HB, Jahn O (2010) Myelin matters: Proteomic insights into white matter disorders. Expert Review of Proteomics 7:159


Zittel, S., M. Nickel, N. I. Wolf, G. Uyanik, D. Glaser, C. Ganos, C. Gerloff, A. Munchau and A. Kohlschutter (2012 in press). ""Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia." J Neurol.


Geplante Veröffentlichungen

Kasapoglu B, Kusch, K, Möbius W, Motta MC, Guarente L, van Lohuizen M, Werner HB, Nave KA. The myelin protein SIRT2 is a myelin-associated modifier of axonal pathology


Patzig, J, Möbius W, Dibaj P, Nave KA, Werner HB. A septin multimer stabilizes CNS myelin



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