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Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene <i>CACNA1D</i> Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy by Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr
Published 2022-11-01
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β2-subunit alternative splicing stabilizes Cav2.3 Ca2+ channel activity during continuous midbrain dopamine neuron-like activity by Anita Siller, Nadja T Hofer, Giulia Tomagra, Nicole Burkert, Simon Hess, Julia Benkert, Aisylu Gaifullina, Desiree Spaich, Johanna Duda, Christina Poetschke, Kristina Vilusic, Eva Maria Fritz, Toni Schneider, Peter Kloppenburg, Birgit Liss, Valentina Carabelli, Emilio Carbone, Nadine Jasmin Ortner, Jörg Striessnig
Published 2022-07-01
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The human channel gating–modifying A749G CACNA1D (Cav1.3) variant induces a neurodevelopmental syndrome–like phenotype in mice by Nadine J. Ortner, Anupam Sah, Enrica Paradiso, Josef Shin, Strahinja Stojanovic, Niklas Hammer, Maria Haritonova, Nadja T. Hofer, Andrea Marcantoni, Laura Guarina, Petronel Tuluc, Tamara Theiner, Florian Pitterl, Karl Ebner, Herbert Oberacher, Emilio Carbone, Nadia Stefanova, Francesco Ferraguti, Nicolas Singewald, Jochen Roeper, Jörg Striessnig
Published 2023-10-01
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