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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

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Stylianos Michalakis1, Lior Shaltiel1, Vithiyanjali Sothilingam2, Susanne Koch1, Verena Schludi1, Stefanie Krause1, Christina Zeitz3,4,5, Isabelle Audo3,4,5,6,7, Marie-Elise Lancelot3,4,5, Christian Hamel8, Isabelle Meunier8, Markus N. Preising9, Christoph Friedburg9, Birgit Lorenz9, Nawal… Click to show full abstract

Stylianos Michalakis1, Lior Shaltiel1, Vithiyanjali Sothilingam2, Susanne Koch1, Verena Schludi1, Stefanie Krause1, Christina Zeitz3,4,5, Isabelle Audo3,4,5,6,7, Marie-Elise Lancelot3,4,5, Christian Hamel8, Isabelle Meunier8, Markus N. Preising9, Christoph Friedburg9, Birgit Lorenz9, Nawal Zabouri10, Silke Haverkamp10, Marina Garcia Garrido2, Naoyuki Tanimoto2, Mathias W. Seeliger2, Martin Biel1 and Christian A. Wahl-Schott1,∗

Keywords: defects cav1; cav1 heterozygous; mosaic synaptopathy; synaptopathy functional; functional defects; heterozygous mice

Journal Title: Human molecular genetics
Year Published: 2017

Link to full text (if available)


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