Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?

por Schurek, Hans-Joachim, Maisel, Peter, Helmchen, Udo, Reusch, Björn, Pekrun, Arnulf
Publicado 2022

Baculovirus Actin Rearrangement-Inducing Factor 1 Can Remodel the Mammalian Actin Cytoskeleton

por Steffen, Anika, Reusch, Björn, Gruteser, Nadine, Mainz, Daniela, Roncarati, Renza, Baumann, Arnd, Stradal, Theresia E. B., Knebel-Mörsdorf, Dagmar
Publicado 2023

Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes

por Odenthal, Johanna, Dittrich, Sebastian, Ludwig, Vivian, Merz, Tim, Reitmeier, Katrin, Reusch, Björn, Höhne, Martin, Cosgun, Zülfü C., Hohenadel, Maximilian, Putnik, Jovana, Göbel, Heike, Rinschen, Markus M., Altmüller, Janine, Koehler, Sybille, Schermer, Bernhard, Benzing, Thomas, Beck, Bodo B., Brinkkötter, Paul T., Habbig, Sandra, Bartram, Malte P.
Publicado 2022

Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions

por Tschernoster, Nikolai, Erger, Florian, Kohl, Stefan, Reusch, Björn, Wenzel, Andrea, Walsh, Stephen, Thiele, Holger, Becker, Christian, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Lena, Kukat, Christian, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter, Rinschen, Markus M, Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno, Bockenhauer, Detlef, Beck, Bodo, Altmüller, Janine
Publicado 2023

Germline C1GALT1C1 mutation causes a multisystem chaperonopathy

por Erger, Florian, Aryal, Rajindra P., Reusch, Björn, Matsumoto, Yasuyuki, Meyer, Robert, Zeng, Junwei, Knopp, Cordula, Noel, Maxence, Muerner, Lukas, Wenzel, Andrea, Kohl, Stefan, Tschernoster, Nikolai, Rappl, Gunter, Rouvet, Isabelle, Schröder-Braunstein, Jutta, Seibert, Felix S., Thiele, Holger, Häusler, Martin G., Weber, Lutz T., Büttner-Herold, Maike, Elbracht, Miriam, Cummings, Sandra F., Altmüller, Janine, Habbig, Sandra, Cummings, Richard D., Beck, Bodo B.
Publicado 2023