New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia

por Saathoff, Yannic, Biskup, Saskia, Funke, Claudia, Roth, Christian
Publicado 2021

X-ray diffraction using focused-ion-beam-prepared single crystals

por Weigel, Tina, Funke, Claudia, Zschornak, Matthias, Behm, Thomas, Stöcker, Hartmut, Leisegang, Tilmann, Meyer, Dirk C.
Publicado 2020

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

por Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Publicado 2017

Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Commo...

por Bergner, Caroline Gertrud, Neuhofer, Christiane Michaela, Funke, Claudia, Biskup, Saskia, von Gottberg, Philipp, Bartels, Claudia, Koch, Jan Christoph, Radenbach, Katrin
Publicado 2020

Mitochondrial Morphology, Function and Homeostasis Are Impaired by Expression of an N-terminal Calpain Cleavage Fragment of Ataxin-3

por Harmuth, Tina, Prell-Schicker, Caroline, Weber, Jonasz J., Gellerich, Frank, Funke, Claudia, Drießen, Stefan, Magg, Janine C. D., Krebiehl, Guido, Wolburg, Hartwig, Hayer, Stefanie N., Hauser, Stefan, Krüger, Rejko, Schöls, Ludger, Riess, Olaf, Hübener-Schmid, Jeannette
Publicado 2018