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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
Hanuscheck, Nicholas ORCID: 0000-0003-1166-6273, Thalman, Carine
ORCID: 0000-0001-7147-1887, Domingues, Micaela, Schmaul, Samantha
ORCID: 0000-0001-5101-8508, Muthuraman, Muthuraman, Hetsch, Florian, Ecker, Manuela, Endle, Heiko
ORCID: 0000-0002-1012-4563, Oshaghi, Mohammadsaleh, Martino, Gianvito, Kuhlmann, Tanja, Bozek, Katarzyna, van Beers, Tim
ORCID: 0000-0002-5645-2853, Bittner, Stefan
ORCID: 0000-0003-2179-3655, von Engelhardt, Jakob, Vogt, Johannes, Vogelaar, Christina Francisca and Zipp, Frauke
(2022).
Interleukin-4 receptor signaling modulates neuronal network activity.
J. Exp. Med., 219 (6).
NEW YORK:
ROCKEFELLER UNIV PRESS.
ISSN 1540-9538
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