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Page 1
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: korenke c. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
Brockmann K, Wang D, Korenke CG, von Moers A, Ho YY, Pascual JM, Kuang K, Yang H, Ma L, Kranz-Eble P, Fischbarg J, Hanefeld F, De Vivo DC. Brockmann K, et al. Among authors: korenke cg. Ann Neurol. 2001 Oct;50(4):476-85. doi: 10.1002/ana.1222. Ann Neurol. 2001. PMID: 11603379
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.
Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. Alber M, et al. Among authors: korenke c. Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28589176 Free PMC article.
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex.
Stahl S, Gaetzner S, Voss K, Brackertz B, Schleider E, Sürücü O, Kunze E, Netzer C, Korenke C, Finckh U, Habek M, Poljakovic Z, Elbracht M, Rudnik-Schöneborn S, Bertalanffy H, Sure U, Felbor U. Stahl S, et al. Among authors: korenke c. Hum Mutat. 2008 May;29(5):709-17. doi: 10.1002/humu.20712. Hum Mutat. 2008. PMID: 18300272
Effect and safety of treatment with ACE-inhibitor Enalapril and β-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial.
Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Müller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schröder R; German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network Investigators list of additional local Investigators and co-workers of the German Competence Network for Congenital Heart Defects and the Treat-NMD Neuromuscular Network. Dittrich S, et al. Among authors: korenke c. Orphanet J Rare Dis. 2019 May 10;14(1):105. doi: 10.1186/s13023-019-1066-9. Orphanet J Rare Dis. 2019. PMID: 31077250 Free PMC article. Clinical Trial.
Potential Risks to Stable Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation for Children With Cerebral X-linked Adrenoleukodystrophy.
Kühl JS, Kupper J, Baqué H, Ebell W, Gärtner J, Korenke C, Spors B, Steffen IG, Strauss G, Voigt S, Weschke B, Weddige A, Köhler W, Steinfeld R. Kühl JS, et al. Among authors: korenke c. JAMA Netw Open. 2018 Jul 6;1(3):e180769. doi: 10.1001/jamanetworkopen.2018.0769. JAMA Netw Open. 2018. PMID: 30646031 Free PMC article.
24 results