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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; ... (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120
Zaucke, Frank; Boehnlein, Joana M; Steffens, Sarah; Polishchuk, Roman S; Rampoldi, Luca; Fischer, Andreas; Pasch, Andreas; Boehm, Christoph W A; Baasner, Anne; Attanasio, Massimo; Hoppe, Bernd; Hopfer, Helmut; Beck, Bodo B; Sayer, John A; Hildebrandt, Friedhelm; Wolf, Matthias T F (2010). Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Human molecular genetics, 19(10), pp. 1985-97. Oxford: Oxford University Press 10.1093/hmg/ddq077
