Einträge von Zdebik, Anselm A. auf dem Publikationsserver

Lo, Jacky, Forst, Anna-Lena , Warth, Richard und Zdebik, Anselm A. (2022) EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies. Frontiers in Physiology 2022 (13), S. 852674.

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. und 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), S. 1498-1512. Volltext nicht vorhanden.

Thompson, Dorothy A. , Feather, Sally, Stanescu, Horia C., Freudenthal, Bernard , Zdebik, Anselm A., Warth, Richard , Ognjanovic, Milos, Hulton, Sally A., Wassmer, Evangeline, van't Hoff, William, Russell‐Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert und Bockenhauer, Detlef (2011) Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. The Journal of Physiology 589 (7), S. 1681-1689. Volltext nicht vorhanden.

Bandulik, Sascha, Schmidt, Katharina, Bockenhauer, Detlef , Zdebik, Anselm A., Humberg, Evelyn, Kleta, Robert, Warth, Richard und Reichold, Markus (2011) The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflügers Archiv - European Journal of Physiology 461 (4), S. 423-435. Volltext nicht vorhanden.

Reichold, Markus, Zdebik, Anselm A., Lieberer, Evelyn, Rapedius, Markus, Schmidt, Katharina, Bandulik, Sascha, Sterner, Christina, Tegtmeier, Ines, Penton, David, Baukrowitz, Thomas, Hulton, Sally-Anne, Witzgall, Ralph , Ben-Zeev, Bruria, Howie, Alexander J., Kleta, Robert, Bockenhauer, Detlef und Warth, Richard (2010) KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proceedings of the National Academy of Sciences 107 (32), S. 14490-14495. Volltext nicht vorhanden.

Bockenhauer, Detlef , Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy , Cross, J. Helen, van't Hoff, William, Al Masri, Omar, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike , Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio , Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard , Sheridan, Eamonn und Kleta, Robert (2009) Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations. New England Journal of Medicine 360 (19), S. 1960-1970. Volltext nicht vorhanden.