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Case Reports in Nephrology and Dialysis|December 5, 2022
Triosephosphate-Isomerase Deficiency: Epiphenomenon or Cause of Loin Pain Haematuria Syndrome?Hans-Joachim Schurek, Peter Maisel, Udo Helmchen, et al.HGG Advances|April 2, 2025
Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 geneChristian Betz, Björn Reusch, Thomas Langmann, et al.Microbiology Spectrum|February 13, 2023
Baculovirus Actin Rearrangement-Inducing Factor 1 Can Remodel the Mammalian Actin CytoskeletonAnika Steffen, Björn Reusch, Nadine Gruteser, et al.Journal of Molecular Medicine (Berlin, Germany)|May 20, 2018
Translation inhibition corrects aberrant localization of mutant alanine-glyoxylate aminotransferase: possible therapeutic approach for hyperoxaluriaRuth Belostotsky, Roman Lyakhovetsky, Michael Y Sherman, et al.Glycobiology|August 31, 2024
Cosmc regulates O-glycan extension in murine hepatocytesRajindra P Aryal, Maxence Noel, Junwei Zeng, et al.Kidney International Reports|January 15, 2025
Effective Newborn Screening for Type 1 and 3 Primary HyperoxaluriaBernd Hoppe, Cristina Martin-Higueras, Lodovica Borghese, et al.Journal of Proteomics|November 14, 2021
MAGED2 controls vasopressin-induced aquaporin-2 expression in collecting duct cellsBjörn Reusch, Malte P Bartram, Claudia Dafinger, et al.Kidney International Reports|February 23, 2023
Modeling of ACTN4-Based Podocytopathy Using Drosophila NephrocytesJohanna Odenthal, Sebastian Dittrich, Vivian Ludwig, et al.Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.Proceedings of the National Academy of Sciences of the United States of America|May 22, 2023
Germline C1GALT1C1 mutation causes a multisystem chaperonopathyFlorian Erger, Rajindra P Aryal, Björn Reusch, et al.Pageof 2