Publikationen von 0000-0001-5878-941X
(ORCID: 0000-0001-5878-941X)

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.

Kleta, Robert, Romeo, Elisa, Ristic, Zorica, Ohura, Toshihiro, Stuart, Caroline, Arcos-Burgos, Mauricio , Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M , Inoue, Sumiko, Matsuura, Norio, Helip-Wooley, Amanda, Bockenhauer, Detlef , Warth, Richard , Bernardini, Isa, Visser, Gepke, Eggermann, Thomas, Lee, Philip, Chairoungdua, Arthit, Jutabha, Promsuk, Babu, Ellappan, Nilwarangkoon, Sirinun, Anzai, Naohiko, Kanai, Yoshikatsu, Verrey, Francois , Gahl, William A und Koizumi, Akio (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nature Genetics 36 (9), S. 999-1002. Volltext nicht vorhanden.