Universität zu Köln

Journal Article

Dejanovic, Borislav, Djemie, Tania, Gruenewald, Nora, Suls, Arvid ORCID: 0000-0003-0328-198X, Kress, Vanessa, Hetsch, Florian, Craiu, Dana, Zemel, Matthew, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Lal, Dennis, Myers, Candace T., Mefford, Heather C., Palotie, Aarno, Helbig, Ingo ORCID: 0000-0001-8486-0558, Meier, Jochen C., De Jonghe, Peter, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147 and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2015). Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy. EMBO Mol. Med., 7 (12). S. 1580 - 1595. HOBOKEN: WILEY. ISSN 1757-4684

Dejanovic, Borislav, Semtner, Marcus, Ebert, Silvia, Lamkemeyer, Tobias, Neuser, Franziska, Scher, Bernhard Lu, Meier, Jochen C. and Schwarz, Guenter ORCID: 0000-0002-2118-9338 (2014). Palmitoylation of Gephyrin Controls Receptor Clustering and Plasticity of GABAergic Synapses. PLoS. Biol., 12 (7). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1545-7885

Foerstera, Benjamin, Belaidi, Abdel Ali, Juettner, Rene, Bernert, Carola, Tsokos, Michael, Lehmann, Thomas-N., Horn, Peter, Dehnicke, Christoph, Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Meier, Jochen C. (2010). Irregular RNA splicing curtails postsynaptic gephyrin in the cornu ammonis of patients with epilepsy. Brain, 133. S. 3778 - 3795. OXFORD: OXFORD UNIV PRESS. ISSN 0006-8950

Kumar, Avadh, Dejanovic, Borislav, Hetsch, Florian, Semtner, Marcus, Fusca, Debora, Arjune, Sita, Santamaria-Araujo, Jose Angel, Winkelmann, Aline, Ayton, Scott ORCID: 0000-0002-3479-2427, Bush, Ashley I., Kloppenburg, Peter, Meier, Jochen C., Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Belaidi, Abdel Ali (2017). S-sulfocysteine/NMDA receptor-dependent signaling underlies neurodegeneration in molybdenum cofactor deficiency. J. Clin. Invest., 127 (12). S. 4365 - 4379. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238

Macha, Arthur, Liebsch, Filip ORCID: 0000-0002-0955-8065, Fricke, Steffen, Hetsch, Florian, Neuser, Franziska, Johannes, Lena, Kress, Vanessa, Djemie, Tania, Santamaria-Araujo, Jose A., Vilain, Catheline, Aeby, Alec, Van Bogaert, Patrick, Dejanovic, Borislav, Weckhuysen, Sarah ORCID: 0000-0003-2878-1147, Meier, Jochen C. and Schwarz, Guenter (2022). Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy. Hum. Mol. Genet., 31 (6). S. 901 - 914. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Winkelmann, Aline, Maggio, Nicola ORCID: 0000-0001-5041-2108, Eller, Joanna, Caliskan, Guersel, Semtner, Marcus, Haeussler, Ute, Juettner, Rene, Dugladze, Tamar, Smolinsky, Birthe, Kowalczyk, Sarah, Chronowska, Ewa, Schwarz, Guenter ORCID: 0000-0002-2118-9338, Rathjen, Fritz G., Rechavi, Gideon, Haas, Carola A., Kulik, Akos, Gloveli, Tengis, Heinemann, Uwe and Meier, Jochen C. (2014). Changes in neural network homeostasis trigger neuropsychiatric symptoms. J. Clin. Invest., 124 (2). S. 696 - 712. ANN ARBOR: AMER SOC CLINICAL INVESTIGATION INC. ISSN 1558-8238