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19. September 2012 (Leukonet)
Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy
Groeschel S, í Dali C, Clas P, Böhringer J, Duno M, Krarup C, Kehrer C, Wilke M, Krägeloh-Mann I.
Neurology. 2012 Oct 16;79(16):1662-70. doi: 10.1212/WNL.0b013e31826e9ad2. Epub 2012 Sep 19.
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3. September 2012 (Leukonet)
Juvenile metachromatic leukodystrophy 10 years post-transplant compared to a non-transplanted cohort
Krägeloh-Mann I, Groeschel S, Kehrer C, Opherk K, Nägele T, Handgretinger R, Müller I (2012), BMT in press
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1. September 2012 (Leukonet)
Systematic approaches to central nervous system myelin. Cellular and Molecular Life Sciences
de Monasterio-Schrader P, Jahn O, Tenzer S, Wichert SP, Patzig J, Werner HB (2012) Cell Mol Life Sci. 2012 Sep;69(17):2879-94. doi: 10.1007/s00018-012-0958-9. Epub 2012 Mar 23
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21. August 2012 (Leukonet)
Assessment of Myelination in Hypomyelinating Disorders by Quantitative MRI
Dreha-Kulaczewski S, Brockmann K, Henneke M, Dechent P, Gärtner J, Helms G (2012). J Magn Reson Imaging. 2012 Dec;36(6):1329-38. doi: 10.1002/jmri.23774. Epub 2012 Aug 21.
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26. July 2012 (Leukonet)
Pelizaeus-Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia.
Zittel, S., M. Nickel, N. I. Wolf, G. Uyanik, D. Glaser, C. Ganos, C. Gerloff, A. Munchau and A. Kohlschutter J Neurol. 2012 Nov;259(11):2498-500. doi: 10.1007/s00415-012-6617-0. Epub 2012 Jul 26
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25. July 2012 (Leukonet)
L-2 hydroxyglutaric aciduria as a rare cause of leukencephalopathy in adults
Weimar C, Schlamann M, Krägeloh-Mann I, Schöls L (2012) Clin Neurol Neurosurg. [Epub ahead of print]
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1. July 2012 (Leukonet)
Therapy of Pelizaeus-Merzbacher disease in mice by feeding a cholesterol-enriched diet
Saher G, Rudolphi F, Corthals K, Ruhwedel T, Schmidt KF, Löwel S, Dibaj P, Barrette B, Möbius W, Nave KA (2012) Nat Med, July 2012, doi: 10.1038/nm.2833
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1. July 2012 (Leukonet)
Molecular characterization of FOLR1 mutations delineates cerebral folate transport deficiency
Grapp M, Just IA, Linnankivi T, Wolf P, Lücke T, Häusler M, Gärtner J, Steinfeld R (2012) Brain 135:2022-2031.
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1. June 2012 (Leukonet)
Genetic disruption of Pten in a novel mouse model of tomaculous neuropathy
Goebbels S, Oltrogge JH, Wolfer S, Wieser GL, Nientiedt T, Pieper A, Ruhwedel T, Groszer M, Sereda MW, Nave KA (2012) EMBO Molecular Medicine 4:486
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29. April 2012 (Leukonet)
Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity
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).Nature. 485:517
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1. April 2012 (Leukonet)
Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: A multimodal MR study
Ding, X. Q., A. Bley, A. Ohlenbusch, A. Kohlschutter, J. Fiehler, W. Zhu and H. Lanfermann (2012). J Magn Reson Imaging 35(4): 926-32.
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1. February 2012 (Leukonet)
Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?
Blum, K. S., C. Hagel, E. Neuen-Jacob, P. Herkenrath, J. Fiehler, A. Kohlschutter, H. Lanfermann and X. Q. Ding J Child Neurol 27(2): 229-33.
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13. January 2012 (Leukonet)
Mutations in SLC33A1 cause a lethal autosomal recessive disorder with congenital cataracts and hearing loss associated with low serum copper and ceruloplasmin
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) Am J Hum Genet 90:61-68.
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1. January 2012 (Leukonet)
Newborn Screening for Lysosomal Storage Disorders in Hungary
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) JIMD Reports Volume 6, pp 117-125.
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1. January 2012 (Leukonet)
Determining the Demyelination Load in Metachromatic Leukodystrophy
Clas P, Wilke M, Gröschel S (2012) Acad Radiol 19:26–34
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9. November 2011 (Leukonet)
Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci
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) Journal of Neuroscience 31:16369
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1. October 2011 (Leukonet)
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation
Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schols L (2011) Journal of Medical Genetics. 48(10):713-715
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1. October 2011 (Leukonet)
Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course
Groeschel S, Kehrer C, Engel C, Dali C, Bley A, Steinfeld R, Grodd W, Krägeloh-Mann I (2011) J Inherit Metab Dis 34(5):1095-102.
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1. October 2011 (Leukonet)
Misalignment of PLP/DM20 transmembrane domains determines protein misfolding in Pelizaeus-Merzbacher disease
Dhaunchak AS, Colman DR, Nave KA (2011). J Neurosci 31(42): 14961-71.
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23. September 2011 (Leukonet)
Telencephalic histopathology and changes in behavioural and neural plasticity in a murine model for metachromatic leukodystrophy
Faldini E, Stroobants S, Lüllmann-Rauch R, Eckhardt M, Gieselmann V, Balschun D, D’Hooge R (2011) Behav Brain Res 222:309-314.
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1. September 2011 (Leukonet)
The natural course of gross motor deterioration in metachromatic leukodystrophy
Kehrer C, Blumenstock G, Gieselmann V, Krägeloh-Mann I (2011) Dev Med Child Neurol. 53(9):850-5.
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1. June 2011 (Leukonet)
Rare differential diagnosis of primary adrenal insufficiency: case 6/2011
Blaschka F, Synofzik M, Schols L, Rau I, Gal A, Mussig K (2011). Deutsche Medizinische Wochenschrift (1946). 136(24):1316
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1. February 2011 (Leukonet)
Development and reliability of a classification system for gross motor function in children with metachromatic leucodystrophy
Kehrer C, Blumenstock G, Raabe C, Krägeloh-Mann I (2011) Dev Med Child Neurol 53(2):156-60.
Kohlschütter, A, Eichler, F (2011). Childhood leukodystrophies: a clinical perspective. Expert Rev Neurother 11(10): 1485-96.
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18. January 2011 (Leukonet)
rnaset2 mutant zebrafish model familial cystic leukoencephalopathy and reveal a role for RNase T2 in degrading ribosomal RNA
Haud N, Firat KF, Diekmann S, Henneke M, Willer JR, Hillwig MS, Gregg RG MacIntosh GC, Gärtner J, Alia A, Hurlstone AFL (2011) Proc Natl Acad Sci USA108:1099-1103.