Search Results - Hörtnagel, Konstanze

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  1. 1
    TATA Box and Spl Sites Mediate the Activation of c-myc Promoter P1 by Immunoglobulin κ Enhancers

    TATA Box and Spl Sites Mediate the Activation of c-myc Promoter P1 by Immunoglobulin κ Enhancers by Geltinger, Christian, Hortnagel, Konstanze, Polack, Axel

    Published 2018
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  2. 2
    Activation of c-myc promoter P1 by immunoglobulin κ gene enhancers in Burkitt lymphoma: functional characterization of the intron enhancer motifs κB, E box 1 and E box 2, and of the 3′ enhancer motif PU

    Activation of c-myc promoter P1 by immunoglobulin κ gene enhancers in Burkitt lymphoma: functional characterization of the intron enhancer motifs κB, E box 1 and E box 2, and of th... by Wittekindt, Nicola E., Hörtnagel, Konstanze, Geltinger, Christian, Polack, Axel

    Published 2000
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  3. 3
    A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation

    A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation by Thomas, Christian, Zühlsdorf, Andrea, Hörtnagel, Konstanze, Mulahasanovic, Lejla, Grauer, Oliver M., Kümpers, Philipp, Wiendl, Heinz, Meuth, Sven G.

    Published 2018
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  4. 4
    The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

    The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement by Hörtnagel, Konstanze, Krägeloh-Mann, Inge, Bornemann, Antje, Döcker, Miriam, Biskup, Saskia, Mayrhofer, Heidi, Battke, Florian, du Bois, Gabriele, Harzer, Klaus

    Published 2016
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  5. 5
    Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A

    Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A by Syrbe, Steffen, Zhorov, Boris S., Bertsche, Astrid, Bernhard, Matthias K., Hornemann, Frauke, Mütze, Ulrike, Hoffmann, Jessica, Hörtnagel, Konstanze, Kiess, Wieland, Hirsch, Franz W., Lemke, Johannes R., Merkenschlager, Andreas

    Published 2016
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  6. 6
    Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families

    Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families by Soehn, Anne S., Rattay, Tim W., Beck-Wödl, Stefanie, Schäferhoff, Karin, Monk, David, Döbler-Neumann, Marion, Hörtnagel, Konstanze, Schlüter, Agatha, Ruiz, Montserrat, Pujol, Aurora, Züchner, Stephan, Riess, Olaf, Schüle, Rebecca, Bauer, Peter, Schöls, Ludger

    Published 2016
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  7. 7
    GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy

    GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy by Lemke, Johannes R, Hendrickx, Rik, Geider, Kirsten, Laube, Bodo, Schwake, Michael, Harvey, Robert J, James, Victoria M, Pepler, Alex, Steiner, Isabelle, Hörtnagel, Konstanze, Neidhardt, John, Ruf, Susanne, Wolff, Markus, Bartholdi, Deborah, Caraballo, Roberto, Platzer, Konrad, Suls, Arvid, De Jonghe, Peter, Biskup, Saskia, Weckhuysen, Sarah

    Published 2014
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  8. 8
    GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

    GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers by Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.

    Published 2016
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  9. 9
    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

    FAHN/SPG35: a narrow phenotypic spectrum across disease classifications by Rattay, Tim W, Lindig, Tobias, Baets, Jonathan, Smets, Katrien, Deconinck, Tine, Söhn, Anne S, Hörtnagel, Konstanze, Eckstein, Kathrin N, Wiethoff, Sarah, Reichbauer, Jennifer, Döbler-Neumann, Marion, Krägeloh-Mann, Ingeborg, Auer-Grumbach, Michaela, Plecko, Barbara, Münchau, Alexander, Wilken, Bernd, Janauschek, Marc, Giese, Anne-Katrin, De Bleecker, Jan L, Ortibus, Els, Debyser, Martine, Lopez de Munain, Adolfo, Pujol, Aurora, Bassi, Maria Teresa, D’Angelo, Maria Grazia, De Jonghe, Peter, Züchner, Stephan, Bauer, Peter, Schöls, Ludger, Schüle, Rebecca

    Published 2019
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