Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study
Schwahn, Bernd C, Dr, Van Spronsen, Francjan J, Prof, Belaidi, Abdel A, PhD, Bowhay, Stephen, BSc, Christodoulou, John, Prof, Derks, Terry G, MD, Hennermann, Julia B, Prof, Jameson, Elisabeth, MBBCh, König, Kai, MD, McGregor, Tracy L, MD, Font-Montgomery, Esperanza, MD, Santamaria-Araujo, José A, PhD, Santra, Saikat, MBBCh, Vaidya, Mamta, MD, Vierzig, Anne, MD, Wassmer, Evangeline, MD, Weis, Ilona, MD, Wong, Flora Y, PhD, Veldman, Alex, MD, Schwarz, Günter, Prof
Published in The Lancet (British edition) (14.11.2015)
Published in The Lancet (British edition) (14.11.2015)
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Journal Article
Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy
Dejanovic, Borislav, Lal, Dennis, Catarino, Claudia B, Arjune, Sita, Belaidi, Abdel A, Trucks, Holger, Vollmar, Christian, Surges, Rainer, Kunz, Wolfram S, Motameny, Susanne, Altmüller, Janine, Köhler, Anna, Neubauer, Bernd A, EPICURE Consortium, Nürnberg, Peter, Noachtar, Soheyl, Schwarz, Günter, Sander, Thomas
Published in Neurobiology of disease (01.07.2014)
Published in Neurobiology of disease (01.07.2014)
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Journal Article
Molecular cloning, expression and biochemical characterization of periplasmic nitrate reductase from Campylobacter jejuni
Mintmier, Breeanna, McGarry, Jennifer M, Sparacino-Watkins, Courtney E, Sallmen, Joseph, Fischer-Schrader, Katrin, Magalon, Axel, McCormick, Joseph R, Stolz, John F, Schwarz, Günter, Bain, Daniel J, Basu, Partha
Published in FEMS microbiology letters (01.08.2018)
Published in FEMS microbiology letters (01.08.2018)
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Journal Article
Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes
Lal, Dennis, Reinthaler, Eva M, Dejanovic, Borislav, May, Patrick, Thiele, Holger, Lehesjoki, Anna-Elina, Schwarz, Günter, Riesch, Erik, Ikram, M Arfan, van Duijn, Cornelia M, Uitterlinden, Andre G, Hofman, Albert, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Neophytou, Birgit, Zara, Federico, Hahn, Andreas, Gormley, Padhraig, Becker, Felicitas, Weber, Yvonne G, Cilio, Maria Roberta, Kunz, Wolfram S, Krause, Roland, Zimprich, Fritz, Lemke, Johannes R, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd A
Published in PloS one (18.03.2016)
Published in PloS one (18.03.2016)
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Journal Article
Changes in neural network homeostasis trigger neuropsychiatric symptoms
Winkelmann, Aline, Maggio, Nicola, Eller, Joanna, Caliskan, Gürsel, Semtner, Marcus, Häussler, Ute, Jüttner, René, Dugladze, Tamar, Smolinsky, Birthe, Kowalczyk, Sarah, Chronowska, Ewa, Schwarz, Günter, Rathjen, Fritz G, Rechavi, Gideon, Haas, Carola A, Kulik, Akos, Gloveli, Tengis, Heinemann, Uwe, Meier, Jochen C
Published in The Journal of clinical investigation (01.02.2014)
Published in The Journal of clinical investigation (01.02.2014)
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Journal Article
Complex Formation between the Postsynaptic Scaffolding Protein Gephyrin, Profilin, and Mena: A Possible Link to the Microfilament System
Giesemann, Torsten, Schwarz, Gunter, Nawrotzki, Ralph, Berhorster, Kerstin, Rothkegel, Martin, Schluter, Kathrin, Schrader, Nils, Schindelin, Hermann, Mendel, Ralf R, Kirsch, Joachim, Jockusch, Brigitte M
Published in The Journal of neuroscience (10.09.2003)
Published in The Journal of neuroscience (10.09.2003)
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Journal Article
Molybdenum Cofactor Deficiency in Humans
Johannes, Lena, Fu, Chun-Yu, Schwarz, Günter
Published in Molecules (Basel, Switzerland) (14.10.2022)
Published in Molecules (Basel, Switzerland) (14.10.2022)
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Journal Article
Molybdenum cofactor-deficient mice resemble the phenotype of human patients
Lee, Heon-Jin, Adham, Ibrahim M., Schwarz, Günter, Kneussel, Matthias, Sass, Jörn O., Engel, Wolfgang, Reiss, Jochen
Published in Human molecular genetics (15.12.2002)
Published in Human molecular genetics (15.12.2002)
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Journal Article
The Molybdenum Cofactor Biosynthetic Protein Cnx1 Complements Molybdate-Repairable Mutants, Transfers Molybdenum to the Metal Binding Pterin, and Is Associated with the Cytoskeleton
Schwarz, Günter, Schulze, Jutta, Bittner, Florian, Eilers, Thomas, Kuper, Jochen, Bollmann, Gabriele, Nerlich, Andrea, Brinkmann, Henner, Mendel, Ralf R.
Published in The Plant cell (01.12.2000)
Published in The Plant cell (01.12.2000)
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Journal Article
Structure of the molybdopterin-bound Cnx1G domain links molybdenum and copper metabolism
Schwarz, Günter, Kuper, Jochen, Llamas, Angel, Hecht, Hans-Jürgen, Mendel, Ralf R
Published in Nature (12.08.2004)
Published in Nature (12.08.2004)
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Journal Article
Mediated Electrochemistry of Nitrate Reductase from Arabidopsis thaliana
Kalimuthu, Palraj, Fischer-Schrader, Katrin, Schwarz, Günter, Bernhardt, Paul V
Published in The journal of physical chemistry. B (27.06.2013)
Published in The journal of physical chemistry. B (27.06.2013)
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