Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

by Kathrin Nickel, Ludger Tebartz van Elst, Katharina Domschke, Birgitta Gläser, Friedrich Stock, Dominique Endres, Simon Maier, Andreas Riedel
Published 2018-08-01

New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel <i>CACNA1C</i> Loss-Of-Function Mutation

by Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst
Published 2020-11-01

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

by Dominique Endres, Dominique Endres, Simon J. Maier, Simon J. Maier, Christiane Ziegler, Kathrin Nickel, Kathrin Nickel, Anne N. Riering, Benjamin Berger, Johann Lambeck, Miriam Fritz, Birgitta Gläser, Friedrich Stock, Michael Dacko, Thomas Lange, Irina Mader, Irina Mader, Katharina Domschke, Ludger Tebartz van Elst, Ludger Tebartz van Elst
Published 2019-05-01

Modeling MyD88 Deficiency In Vitro Provides New Insights in Its Function

by Nils Craig-Mueller, Nils Craig-Mueller, Nils Craig-Mueller, Ruba Hammad, Ruba Hammad, Ruba Hammad, Roland Elling, Roland Elling, Roland Elling, Jamal Alzubi, Jamal Alzubi, Barbara Timm, Barbara Timm, Julia Kolter, Julia Kolter, Nele Knelangen, Nele Knelangen, Christien Bednarski, Christien Bednarski, Birgitta Gläser, Sandra Ammann, Sandra Ammann, Zoltán Ivics, Judith Fischer, Judith Fischer, Carsten Speckmann, Carsten Speckmann, Carsten Speckmann, Klaus Schwarz, Nico Lachmann, Nico Lachmann, Stephan Ehl, Stephan Ehl, Stephan Ehl, Thomas Moritz, Thomas Moritz, Philipp Henneke, Philipp Henneke, Philipp Henneke, Philipp Henneke, Toni Cathomen, Toni Cathomen, Toni Cathomen
Published 2020-12-01