Items where Author is "Bockenhauer, Detlef"

Article

Schlingmann, Karl P. and Renigunta, Aparna and Hoorn, Ewout J. and Forst, Anna-Lena and Renigunta, Vijay and Atanasov, Velko and Mahendran, Sinthura and Barakat, Tahsin Stefan and Gillion, Valentine and Godefroid, Nathalie and Brooks, Alice S. and Lugtenberg, Dorien and Lake, Jennifer and Debaix, Huguette and Rudin, Christoph and Knebelmann, Bertrand and Tellier, Stephanie and Rousset-Rouviere, Caroline and Viering, Daan and de Baaij, Jeroen H. F. and Weber, Stefanie and Palygin, Oleg and Staruschenko, Alexander and Kleta, Robert and Houillier, Pascal and Bockenhauer, Detlef and Devuyst, Olivier and Vargas-Poussou, Rosa and Warth, Richard and 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. ISSN 1046-6673, 1533-3450

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

Reichold, Markus and Klootwijk, Enriko D. and Reinders, Joerg and Otto, Edgar A. and Milani, Mario and Broeker, Carsten and Laing, Chris and Wiesner, Julia and Devi, Sulochana and Zhou, Weibin and Schmitt, Roland and Tegtmeier, Ines and Sterner, Christina and Doellerer, Hannes and Renner, Kathrin and Oefner, Peter J. and Dettmer, Katja and Simbuerger, Johann M. and Witzgall, Ralph and Stanescu, Horia C. and Dumitriu, Simona and Iancu, Daniela and Patel, Vaksha and Mozere, Monika and Tekman, Mehmet and Jaureguiberry, Graciana and Issler, Naomi and Kesselheim, Anne and Walsh, Stephen B. and Gale, Daniel P. and Howie, Alexander J. and Martins, Joana R. and Hall, Andrew M. and Kasgharian, Michael and O'Brien, Kevin and Ferreira, Carlos R. and Atwal, Paldeep S. and Jain, Mahim and Hammers, Alexander and Charles-Edwards, Geoffrey and Choe, Chi-Un and Isbrandt, Dirk and Cebrian-Serrano, Alberto and Davies, Ben and Sandford, Richard N. and Pugh, Christopher and Konecki, David S. and Povey, Sue and Bockenhauer, Detlef and Lichter-Konecki, Uta and Gahl, William A. and Unwin, Robert J. and Warth, Richard and Kleta, Robert (2018) Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 29 (7). pp. 1849-1858. ISSN 1046-6673, 1533-3450

Thompson, Dorothy A. and Feather, Sally and Stanescu, Horia C. and Freudenthal, Bernard and Zdebik, Anselm A. and Warth, Richard and Ognjanovic, Milos and Hulton, Sally A. and Wassmer, Evangeline and van't Hoff, William and Russell-Eggitt, Isabelle and Dobbie, Angus and Sheridan, Eamonn and Kleta, Robert and Bockenhauer, Detlef (2011) Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. JOURNAL OF PHYSIOLOGY-LONDON, 589 (7). pp. 1681-1689. ISSN 0022-3751, 1469-7793

Bandulik, Sascha and Schmidt, Katharina and Bockenhauer, Detlef and Zdebik, Anselm A. and Humberg, Evelyn and Kleta, Robert and Warth, Richard and Reichold, Markus (2011) The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 461 (4). pp. 423-435. ISSN 0031-6768

Reichold, Markus and Zdebik, Anselm A. and Lieberer, Evelyn and Rapedius, Markus and Schmidt, Katharina and Bandulik, Sascha and Sterner, Christina and Tegtmeier, Ines and Penton, David and Baukrowitz, Thomas and Hulton, Sally-Anne and Witzgall, Ralph and Ben-Zeev, Bruria and Howie, Alexander J. and Kleta, Robert and Bockenhauer, Detlef and 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 OF THE UNITED STATES OF AMERICA, 107 (32). pp. 14490-14495. ISSN 0027-8424

Bockenhauer, Detlef and Feather, Sally and Stanescu, Horia C. and Bandulik, Sascha and Zdebik, Anselm A. and Reichold, Markus and Tobin, Jonathan and Lieberer, Evelyn and Sterner, Christina and Landoure, Guida and Arora, Ruchi and Sirimanna, Tony and Thompson, Dorothy and Cross, J. Helen and van't Hoff, William and Al Masri, Omar and Tullus, Kjell and Yeung, Stella and Anikster, Yair and Klootwijk, Enriko and Hubank, Mike and Dillon, Michael J. and Heitzmann, Dirk and Arcos-Burgos, Mauricio and Knepper, Mark A. and Dobbie, Angus and Gahl, William A. and Warth, Richard and Sheridan, Eamonn and Kleta, Robert (2009) Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations. NEW ENGLAND JOURNAL OF MEDICINE, 360 (19). pp. 1960-1970. ISSN 0028-4793, 1533-4406

Other

Klootwijk, Enriko D. and Reichold, Markus and Unwin, Robert J. and Kleta, Robert and Warth, Richard and Bockenhauer, Detlef (2015) Renal Fanconi syndrome: taking a proximal look at the nephron. OXFORD UNIV PRESS, OXFORD.