Articles with "mosaic synaptopathy" as a keyword



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

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Published in 2017 at "Human molecular genetics"

DOI: 10.1093/hmg/ddw424

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… read more here.

Keywords: defects cav1; cav1 heterozygous; mosaic synaptopathy; synaptopathy functional ... See more keywords