Items where Author is "Waldegger, Siegfried"
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Schlingmann, Karl P. and Bandulik, Sascha and Mammen, Cherry and Tarailo-Graovac, Maja and Holm, Rikke and Baumann, Matthias and Koenig, Jens and Lee, Jessica J. Y. and Drogemoller, Britt and Imminger, Katrin and Beck, Bodo B. and Altmueller, Janine and Thiele, Holger and Waldegger, Siegfried and van't Hoff, William and Kleta, Robert and Warth, Richard and van Karnebeek, Clara D. M. and Vilsen, Bente and Bockenhauer, Detlef and Konrad, Martin (2018) Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. AMERICAN JOURNAL OF HUMAN GENETICS, 103 (5). pp. 808-816. ISSN 0002-9297, 1537-6605
Kraemer, Bernhard K. and Bergler, Tobias and Stoelcker, Benjamin and Waldegger, Siegfried (2008) Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. NATURE CLINICAL PRACTICE NEPHROLOGY, 4 (1). pp. 38-46. ISSN 1745-8323
Chubanov, Vladimir and Waldegger, Siegfried and Schnitzler, Michael Mederos y and Vitzthum, Helga and Sassen, Martin C. and Seyberth, Hannsjörg W. and 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 OF THE UNITED STATES OF AMERICA, 101 (9). pp. 2894-2899. ISSN 0027-8424
Waldegger, Siegfried and Jeck, Nikola and Barthel, Petra and Peters, Melanie and Vitzthum, Helga and Wolf, Konrad and Kurtz, Armin and Konrad, Martin and Seyberth, Hannsjörg W. (2002) Barttin increases surface expression and changes current properties of ClC-K channels. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 444 (3). pp. 411-418. ISSN 0031-6768
Schlingmann, Karl P. and Weber, Stefanie and Peters, Melanie and Niemann Nejsum, Lene and Vitzthum, Helga and Klingel, Karin and Kratz, Markus and Haddad, Elie and Ristoff, Ellinor and Dinour, Dganit and Syrrou, Maria and Nielsen, Soren and Sassen, Martin and Waldegger, Siegfried and 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. ISSN 1061-4036, 1546-1718
