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KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T. Neubauer BA, et al. Among authors: waldegger s. Neurology. 2008 Jul 15;71(3):177-83. doi: 10.1212/01.wnl.0000317090.92185.ec. Neurology. 2008. PMID: 18625963
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.
Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M. Schlingmann KP, et al. Among authors: waldegger s. J Am Soc Nephrol. 2005 Oct;16(10):3061-9. doi: 10.1681/ASN.2004110989. Epub 2005 Aug 17. J Am Soc Nephrol. 2005. PMID: 16107578
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension.
Jeck N, Waldegger S, Lampert A, Boehmer C, Waldegger P, Lang PA, Wissinger B, Friedrich B, Risler T, Moehle R, Lang UE, Zill P, Bondy B, Schaeffeler E, Asante-Poku S, Seyberth H, Schwab M, Lang F. Jeck N, et al. Among authors: waldegger s, waldegger p. Hypertension. 2004 Jun;43(6):1175-81. doi: 10.1161/01.HYP.0000129824.12959.f0. Epub 2004 May 17. Hypertension. 2004. PMID: 15148291
Salt wasting and deafness resulting from mutations in two chloride channels.
Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S. Schlingmann KP, et al. Among authors: waldegger s, waldegger p. N Engl J Med. 2004 Mar 25;350(13):1314-9. doi: 10.1056/NEJMoa032843. N Engl J Med. 2004. PMID: 15044642 Free article. No abstract available.
112 results