Prof. Dr. med. B. A. Neubauer
Chefarzt / Direktor Tel.: 0641/985-43481 Fax: 0641/985-43489 kinderneurologie@paediat.med.uni-giessen.de10 wichtigste Publikationen:
Neubauer B, Linxweiler W, Hörz W., DNA engineering shows that nucleosome phasing on the African green monkey alpha-satellite is the result of multiple additive histone-DNA interactions. J Mol Biol. 1986 Aug 20;190(4):639-45.
Neubauer B, Hörz W., Analysis of nucleosome positioning by in vitro reconstitution. Methods Enzymol. 1989;170:630-44
Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W. Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. Blood. 1991 May 1;77(9):1871-5.
Neubauer BA, Fiedler B, Himmelein B, Kämpfer F, Lässker U, Schwabe G, Spanier I, Tams D, Bretscher C, Moldenhauer K, Kurlemann G, Weise S, Tedroff K, Eeg-Olofsson O, Wadelius C, Stephani U., Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology. 1998 Dec;51(6):1608-12.
Neubauer BA, Stefanova I, Hübner CA, Neumaier-Probst E, Bohl J, Oppermann HC, Stör H, Hahn A, Stephani U, Kohlschütter A, Gal A., A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27. Neurology. 2006 Aug 22;67(4):587-91
Neubauer BA, Waldegger S, Heinzinger J et al., KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology. 2008 Jul 15;71(3):177-83
Lemke JR, Lal D, Reinthaler EM, …(36 coautors)…, Nürnberg P, Wilhelm C, Stephani U, Helbig I, Lerche H, Zimprich F, Neubauer BA, Biskup S, von Spiczak S. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. Nat Genet. 2013 Sep;45(9):1067-72. (NBA, BS, vSS = equally shared senior authors)
Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA., RBFOX1 and RBFOX3 mutations in rolandic epilepsy. PLoS One. 2013 Sep 6;8(9):e73323.
Lal D, Reinthaler EM, Schubert J, Muhle H, Riesch E, Kluger G, Jabbari K, Kawalia A, Bäumel C, Holthausen H, Hahn A, Feucht M, Neophytou B, Haberlandt E, Becker F, Altmüller J, Thiele H, Lemke JR, Lerche H, Nürnberg P, Sander T, Weber Y, Zimprich F, Neubauer BA. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014 May;75(5):788-92. doi: 10.1002/ana.24127.
Reinthaler EM, Lal D, Lebon S, Hildebrand MS, Dahl HH, Regan BM, Feucht M, Steinböck H, Neophytou B, Ronen GM, Roche L, Gruber-Sedlmayr U, Geldner J, Haberlandt E, Hoffmann P, Herms S, Gieger C, Waldenberger M, Franke A, Wittig M, Schoch S, Becker AJ, Hahn A, Männik K, Toliat MR, Winterer G; 16p11.2 European Consortium, Lerche H, Nürnberg P, Mefford H, Scheffer IE, Berkovic SF, Beckmann JS; EPICURE Consortium; EuroEPINOMICS Consortium, Sander T, Jacquemont S, Reymond A, Zimprich F, Neubauer BA. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet. 2014 Nov 15;23(22):6069-80