CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
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Published in Nature cell biology (01.09.2012)
Published in Nature cell biology (01.09.2012)
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Point mutations in GLI3 lead to misregulation of its subcellular localization
Krauss, Sybille, So, Joyce, Hambrock, Melanie, Köhler, Andrea, Kunath, Melanie, Scharff, Constance, Wessling, Martina, Grzeschik, Karl-Heinz, Schneider, Rainer, Schweiger, Susann
Published in PloS one (15.10.2009)
Published in PloS one (15.10.2009)
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ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Hirata, Hiromi, Nanda, Indrajit, van Riesen, Anne, McMichael, Gai, Hu, Hao, Hambrock, Melanie, Papon, Marie-Amélie, Fischer, Ute, Marouillat, Sylviane, Ding, Can, Alirol, Servane, Bienek, Melanie, Preisler-Adams, Sabine, Grimme, Astrid, Seelow, Dominik, Webster, Richard, Haan, Eric, MacLennan, Alastair, Stenzel, Werner, Yap, Tzu Ying, Gardner, Alison, Nguyen, Lam Son, Shaw, Marie, Lebrun, Nicolas, Haas, Stefan A., Kress, Wolfram, Haaf, Thomas, Schellenberger, Elke, Chelly, Jamel, Viot, Géraldine, Shaffer, Lisa G., Rosenfeld, Jill A., Kramer, Nancy, Falk, Rena, El-Khechen, Dima, Escobar, Luis F., Hennekam, Raoul, Wieacker, Peter, Hübner, Christoph, Ropers, Hans-Hilger, Gecz, Jozef, Schuelke, Markus, Laumonnier, Frédéric, Kalscheuer, Vera M.
Published in American journal of human genetics (02.05.2013)
Published in American journal of human genetics (02.05.2013)
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Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features
Rademacher, Nils, Hambrock, Melanie, Fischer, Ute, Moser, Bettina, Ceulemans, Berten, Lieb, Wolfgang, Boor, Rainer, Stefanova, Irina, Gillessen-Kaesbach, Gabriele, Runge, Charlotte, Korenke, Georg Christoph, Spranger, Stefanie, Laccone, Franco, Tzschach, Andreas, Kalscheuer, Vera M.
Published in Neurogenetics (01.05.2011)
Published in Neurogenetics (01.05.2011)
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