Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome

por Wong, Keit Men, Wegener, Eike, Baradaran-Heravi, Alireza, Huppke, Brenda, Gärtner, Jutta, Huppke, Peter
Publicado 2023

A novel remitting leukodystrophy associated with a variant in FBP2

por Gizak, Agnieszka, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Wiśniewski, Janusz, Duda, Przemysław, Ohlenbusch, Andreas, Huppke, Brenda, Henneke, Marco, Höhne, Wolfgang, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Rakus, Dariusz, Gärtner, Jutta, Huppke, Peter
Publicado 2021

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

por Huppke, Peter, Weissbach, Susann, Church, Joseph A., Schnur, Rhonda, Krusen, Martina, Dreha-Kulaczewski, Steffi, Kühn-Velten, W. Nikolaus, Wolf, Annika, Huppke, Brenda, Millan, Francisca, Begtrup, Amber, Almusafri, Fatima, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Müller, Michael, Gärtner, Jutta
Publicado 2017