Universität zu Köln

Journal Article

Tschernoster, Nikolai ORCID: 0000-0002-6058-9342, Erger, Florian ORCID: 0000-0002-2768-1702, Kohl, Stefan, Reusch, Björn ORCID: 0000-0002-8963-6835, Wenzel, Andrea ORCID: 0009-0005-3280-0947, Walsh, Stephen, Thiele, Holger ORCID: 0000-0003-4495-4597, Becker, Christian ORCID: 0009-0002-2964-4486, Franitza, Marek, Bartram, Malte P., Kömhoff, Martin, Schumacher, Anna-Lena ORCID: 0000-0001-7739-486X, Kukat, Christian ORCID: 0000-0003-1508-0229, Borodina, Tatiana, Quedenau, Claudia, Nürnberg, Peter ORCID: 0000-0002-7228-428X, Rinschen, Markus M, Driller, Jan H., Pedersen, Bjørn P., Schlingmann, Karl P., Hüttel, Bruno ORCID: 0000-0001-7165-1714, Bockenhauer, Detlef, Beck, Bodo Bernhard ORCID: 0000-0003-0495-7670 and Altmüller, Janine ORCID: 0000-0003-4372-1521 (2023). Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome Medicine, 15 (1). p. 62. Springer Nature. ISSN 1756-994X

Recker, Pia ORCID: 0000-0002-0337-9613, Beck, Bodo Bernhard ORCID: 0000-0003-0495-7670, Sikora, Przemyslaw ORCID: 0000-0002-5698-6863, Göbel, Heike ORCID: 0000-0002-0171-7025, Kemper, Markus Josef ORCID: 0000-0002-9205-7906, Nazco, Angel ORCID: 0000-0001-6685-7267, Martin-Higueras, Cristina ORCID: 0000-0003-1139-4642 and Hoppe, Bernd ORCID: 0000-0002-8120-3306 (2022). Chronic liver disease and hepatic calcium-oxalate deposition in patients with primary hyperoxaluria type I. Scientific Reports, 12 (1). p. 16725. Springer Nature. ISSN 2045-2322

Thesis

Veltman, Charlotte (2024). Characterization of novel potential binding partners of Plastin 3, a protective modifier of Spinal Muscular Atrophy. PhD thesis, Universität zu Köln.

Tjiang, Noah Song-Ming ORCID: 0000-0002-9957-0198 (2024). Mitochondrial Distribution and Dynamics at the Axon Initial Segment and their Influence on TAU-Trafficking. PhD thesis, Universität zu Köln.

Buchholz, Sarah ORCID: 0000-0002-3636-1364 (2023). Investigating human TAU isoform-specific functions and their toxicity in Alzheimer's disease and related tauopathies. PhD thesis, Universität zu Köln.