Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

por Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta
Publicado 2020

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism

por Gläser, Anne, Hammerl, Franziska, Gräler, Markus H., Coldewey, Sina M., Völkner, Christin, Frech, Moritz J., Yang, Fan, Luo, Jiankai, Tönnies, Eric, von Bohlen und Halbach, Oliver, Brandt, Nicola, Heimes, Diana, Neßlauer, Anna-Maria, Korenke, Georg Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Rolfs, Arndt, Wree, Andreas, Witt, Martin, Bräuer, Anja Ursula
Publicado 2020

HACE1 deficiency leads to structural and functional neurodevelopmental defects

por Nagy, Vanja, Hollstein, Ronja, Pai, Tsung-Pin, Herde, Michel K., Buphamalai, Pisanu, Moeseneder, Paul, Lenartowicz, Ewelina, Kavirayani, Anoop, Korenke, Georg Christoph, Kozieradzki, Ivona, Nitsch, Roberto, Cicvaric, Ana, Monje Quiroga, Francisco J., Deardorff, Matthew A., Bedoukian, Emma C., Li, Yun, Yigit, Gökhan, Menche, Jörg, Perçin, E. Ferda, Wollnik, Bernd, Henneberger, Christian, Kaiser, Frank J., Penninger, Josef M.
Publicado 2019