Clonal Elimination of the Pathogenic Allele as Diagnostic Pitfall in SAMD9L -Associated Neuropathy
Eggermann, K, Meyer, R, Begemann, M, Dey, D, Bültmann, E, Kurth, I, Korenke, G C, Knopp, C
Published in Genes (14.12.2022)
Published in Genes (14.12.2022)
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Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
Schulz, AL, Albrecht, B, Arici, C, Van Der Burgt, I, Buske, A, Gillessen-Kaesbach, G, Heller, R, Horn, D, Hübner, CA, Korenke, GC, König, R, Kress, W, Krüger, G, Meinecke, P, Mücke, J, Plecko, B, Rossier, E, Schinzel, A, Schulze, A, Seemanova, E, Seidel, H, Spranger, S, Tuysuz, B, Uhrig, S, Wieczorek, D, Kutsche, K, Zenker, M
Published in Clinical genetics (01.01.2008)
Published in Clinical genetics (01.01.2008)
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Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
Plecko, B, Hikel, C, Korenke, G-C, Schmitt, B, Baumgartner, M, Baumeister, F, Jakobs, C, Struys, E, Erwa, W, Stöckler-Ipsiroglu, S
Published in Neuropediatrics (01.06.2005)
Published in Neuropediatrics (01.06.2005)
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Rational diagnostic strategies for Lyme borreliosis in children and adolescents: recommendations by the Committee for Infectious Diseases and Vaccinations of the German Academy for Pediatrics and Adolescent Health
Huppertz, H. I., Bartmann, P., Heininger, U., Fingerle, V., Kinet, M., Klein, R., Korenke, G. C., Nentwich, H. J.
Published in European journal of pediatrics (01.11.2012)
Published in European journal of pediatrics (01.11.2012)
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Journal Article
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
Uyanik, G, Morris-Rosendahl, D J, Stiegler, J, Klapecki, J, Gross, C, Berman, Y, Martin, P, Dey, L, Spranger, S, Korenke, G C, Schreyer, I, Hertzberg, C, Neumann, T E, Burkart, P, Spaich, C, Meng, M, Holthausen, H, Adès, L, Seidel, J, Mangold, E, Buyse, G, Meinecke, P, Schara, U, Zeschnigk, C, Muller, D, Helland, G, Schulze, B, Wright, M L, Kortge-Jung, S, Hehr, A, Bogdahn, U, Schuierer, G, Kohlhase, J, Aigner, L, Wolff, G, Hehr, U, Winkler, J
Published in Neurology (31.07.2007)
Published in Neurology (31.07.2007)
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Clinical outcome of children presenting with a severe manifestation of acute disseminated encephalomyelitis
Rostásy, K, Nagl, A, Lütjen, S, Roll, K, Zotter, S, Blaschek, A, Korenke, G C, Karenfort, M, Gotwald, T, Holthausen, H
Published in Neuropediatrics (01.10.2009)
Published in Neuropediatrics (01.10.2009)
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Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Vornweg, J., Gläser, S., Ahmad‐Anwar, M., Zimmer, A.D., Kuhn, M., Hörer, S., Korenke, G.C., Grothaus, J., Ott, H., Fischer, J.
Published in British journal of dermatology (1951) (01.06.2021)
Published in British journal of dermatology (1951) (01.06.2021)
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Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
Pineda, M., Wraith, J.E., Mengel, E., Sedel, F., Hwu, W.-L., Rohrbach, M., Bembi, B., Walterfang, M., Korenke, G.C., Marquardt, T., Luzy, C., Giorgino, R., Patterson, M.C.
Published in Molecular genetics and metabolism (01.11.2009)
Published in Molecular genetics and metabolism (01.11.2009)
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Journal Article
Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5 -related epilepsy
Müller, A, Helbig, I, Jansen, C, Bast, T, Guerrini, R, Jähn, J, Muhle, H, Auvin, S, Korenke, G.C, Philip, S, Keimer, R, Striano, P, Wolf, N.I, Püst, B, Thiels, Ch, Fogarasi, A, Waltz, S, Kurlemann, G, Kovacevic-Preradovic, T, Ceulemans, B, Schmitt, B, Philippi, H, Tarquinio, D, Buerki, S, von Stülpnagel, C, Kluger, G
Published in European journal of paediatric neurology (01.01.2016)
Published in European journal of paediatric neurology (01.01.2016)
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Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy
Pouwels, P J, Kruse, B, Korenke, G C, Mao, X, Hanefeld, F A, Frahm, J
Published in Neuropediatrics (01.10.1998)
Published in Neuropediatrics (01.10.1998)
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Quantitative proton magnetic resonance spectroscopy of children with adrenoleukodystrophy before and after hematopoietic stem cell transplantation
Wilken, B, Dechent, P, Brockmann, K, Finsterbusch, J, Baumann, M, Ebell, W, Korenke, G C, Pouwels, P J W, Hanefeld, F A, Frahm, J
Published in Neuropediatrics (01.10.2003)
Published in Neuropediatrics (01.10.2003)
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Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study
Wraith, J.E., Guffon, N., Rohrbach, M., Hwu, W.L., Korenke, G.C., Bembi, B., Luzy, C., Giorgino, R., Sedel, F.
Published in Molecular genetics and metabolism (01.11.2009)
Published in Molecular genetics and metabolism (01.11.2009)
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Journal Article
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy
Krasemann, E W, Meier, V, Korenke, G C, Hunneman, D H, Hanefeld, F
Published in Human genetics (01.02.1996)
Published in Human genetics (01.02.1996)
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Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype
Korenke, G C, Fuchs, S, Krasemann, E, Doerr, H G, Wilichowski, E, Hunneman, D H, Hanefeld, F
Published in Annals of neurology (01.08.1996)
Published in Annals of neurology (01.08.1996)
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Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)‐rich triglycerides
Barmaki Pour, R., Stöckler‐Ipsiroglu, S., Hunneman, D. H., Gahr, M., Korenke, G. C., Pabst, W., Hanefeld, F., Peters, A.
Published in Journal of inherited metabolic disease (01.03.2000)
Published in Journal of inherited metabolic disease (01.03.2000)
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Journal Article
Progression of X‐linked adrenoleukodystrophy under interferon‐β therapy
Korenke, G. C., Christen, H.‐J., Kruse, B., Hunneman, D. H., Hanefeld, F.
Published in Journal of inherited metabolic disease (01.03.1997)
Published in Journal of inherited metabolic disease (01.03.1997)
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Intrathecal release of sICAM-1 into CSF in neuroborreliosis — increased brain-derived fraction
Lewczuk, P, Reiber, H, Korenke, G.C, Bollensen, E, Dorta-Contreras, A.J
Published in Journal of neuroimmunology (01.02.2000)
Published in Journal of neuroimmunology (01.02.2000)
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