Entries of Konrad, Martin on the publication server

Schlingmann, Karl P., Renigunta, Aparna, Hoorn, Ewout J., Forst, Anna-Lena, Renigunta, Vijay, Atanasov, Velko, Mahendran, Sinthura, Barakat, Tahsin Stefan , Gillion, Valentine, Godefroid, Nathalie, Brooks, Alice S., Lugtenberg, Dorien, Lake, Jennifer , Debaix, Huguette, Rudin, Christoph, Knebelmann, Bertrand, Tellier, Stephanie, Rousset-Rouvière, Caroline, Viering, Daan, de Baaij, Jeroen H. F. , Weber, Stefanie, Palygin, Oleg , Staruschenko, Alexander, Kleta, Robert, Houillier, Pascal, Bockenhauer, Detlef, Devuyst, Olivier, Vargas-Poussou, Rosa, Warth, Richard , Zdebik, Anselm A. and Konrad, Martin (2021) Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. Journal of the American Society of Nephrology 32 (6), pp. 1498-1512. Fulltext not available.

Schlingmann, Karl P., Bandulik, Sascha, Mammen, Cherry, Tarailo-Graovac, Maja , Holm, Rikke, Baumann, Matthias, König, Jens, Lee, Jessica J. Y., Drögemöller, Britt , Imminger, Katrin, Beck, Bodo B., Altmüller, Janine, Thiele, Holger, Waldegger, Siegfried, van’t Hoff, William, Kleta, Robert, Warth, Richard , van Karnebeek, Clara D. M., Vilsen, Bente , Bockenhauer, Detlef and Konrad, Martin (2018) Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. The American Journal of Human Genetics 103 (5), pp. 808-816. Fulltext not available.

Chubanov, Vladimir, Waldegger, Siegfried, Schnitzler, Michael Mederos y, Vitzthum, Helga, Sassen, Martin C., Seyberth, Hannsjörg W., Konrad, Martin and Gudermann, Thomas (2004) Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proceedings of the National Academy of Sciences 101 (9), pp. 2894-2899. Fulltext not available.

Waldegger, Siegfried, Jeck, Nikola, Barth, Petra, Peters, Melanie, Vitzthum, Helga, Wolf, Konrad, Kurtz, Armin, Konrad, Martin and Seyberth, Hannsjörg W. (2002) Barttin increases surface expression and changes current properties of ClC-K channels. Pflügers Archiv 444 (3), pp. 411-418. Fulltext not available.

Schlingmann, Karl P., Weber, Stefanie, Peters, Melanie, Niemann Nejsum, Lene , Vitzthum, Helga, Klingel, Karin, Kratz, Markus, Haddad, Elie , Ristoff, Ellinor, Dinour, Dganit, Syrrou, Maria, Nielsen, Søren, Sassen, Martin, Waldegger, Siegfried, Seyberth, Hannsjörg W. and Konrad, Martin (2002) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nature Genetics 31 (2), pp. 166-170. Fulltext not available.