Výsledky vyhledávání - Anselm A. Zdebik
- Zobrazuji výsledky 1 - 20 z 20
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Renal involvement in primary Sjögren’s syndrome Autor Rhys Evans, Anselm A. Zdebik, Coziana Ciurtin, Stephen B. Walsh
Vydáno 2015Revisão -
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Additional Disruption of the ClC-2 Cl- Channel Does Not Exacerbate the Cystic Fibrosis Phenotype of Cystic Fibrosis Transmembrane Conductance Regulator Mouse Models Autor Anselm A. Zdebik, John E. Cuffe, Marko Bertog, Christoph Korbmacher, Thomas J. Jentsch
Vydáno 2004Artigo -
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Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome Autor Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia Stanescu, Jonathan L. Tobin, Philip L. Beales, Robert Kleta, Detlef Böckenhauer, Claire Russell
Vydáno 2013Artigo -
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Male germ cells and photoreceptors, both dependent on close cell–cell interactions, degenerate upon ClC-2 Cl− channel disruption Autor Michael R. Bösl, Valentin Stein, Christian A. Hübner, Anselm A. Zdebik, Sven‐Eric Jordt, Amal K. Mukhopadhyay, M Davidoff, A. F. Holstein, Thomas J. Jentsch
Vydáno 2001Artigo -
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Renal intercalated cells are rather energized by a proton than a sodium pump Autor Régine Chambrey, Ingo Kurth, János Peti‐Peterdi, Pascal Houillier, Jeffrey M. Purkerson, F. Leviel, Moritz Hentschke, Anselm A. Zdebik, George J. Schwartz, Christian A. Hübner, Dominique Eladari
Vydáno 2013Artigo -
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Disruption of ClC-3, a Chloride Channel Expressed on Synaptic Vesicles, Leads to a Loss of the Hippocampus Autor Sandra M. Stobrawa, Tilman Breiderhoff, Shigeo Takamori, Dominique Engel, Michaela Schweizer, Anselm A. Zdebik, Michael R. Bösl, Klaus Rüether, Holger Jahn, Andreas Draguhn, Reinhard Jahn, Thomas J. Jentsch
Vydáno 2001Artigo -
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Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 Autor Mallorie Poët, Uwe Kornak, Michaela Schweizer, Anselm A. Zdebik, Olaf Scheel, Sabine M. Hoelter, Wolfgang Wurst, Anja Schmitt, Jens C. Fuhrmann, Rosa Planells‐Cases, Sara Mole, Christian A. Hübner, Thomas J. Jentsch
Vydáno 2006Artigo -
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Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome Autor Dorothy Thompson, Sally Feather, Horia Stanescu, Bernard Freudenthal, Anselm A. Zdebik, Richard Warth, Miloš Ognjanović, Sally A. Hulton, Evangeline Wassmer, William van’t Hoff, Isabelle Russell‐Eggitt, Angus Dobbie, Eamonn Sheridan, Robert Kleta, Detlef Böckenhauer
Vydáno 2011Artigo -
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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function Autor Markus Reichold, Anselm A. Zdebik, Evelyn Lieberer, Markus Rapedius, Katharina Schmidt, Sascha Bandulik, Christina Sterner, Ines Tegtmeier, David Pentón, Thomas Baukrowitz, Sally‐Anne Hulton, Ralph Witzgall, Bruria Ben‐Zeev, Alexander J. Howie, Robert Kleta, Detlef Böckenhauer, Richard Warth
Vydáno 2010Artigo -
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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Autor Guida Landouré, Anselm A. Zdebik, Tara Martinez, Barrington G. Burnett, Horia Stanescu, Hitoshi Inada, Yijun Shi, Addis A. Taye, Lingling Kong, Clare H. Munns, Shelly S. Choo, Christopher B. Phelps, Reema Paudel, Henry Houlden, Christy L. Ludlow, Michael J. Caterina, Rachelle Gaudet, Robert Kleta, Kenneth H. Fischbeck, Charlotte J. Sumner
Vydáno 2009Artigo -
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<i>NT5E</i>Mutations and Arterial Calcifications Autor Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, Alfredo Brusco, Catherine Groden, Fred A. Gill, Hannah Carlson-Donohoe, Robert J. Lederman, Marcus Y. Chen, Dan Yang, Michael Siegenthaler, Carlo Arduino, Cecilia Mancini, Bernard Freudenthal, Horia Stanescu, Anselm A. Zdebik, R.K. Chaganti, Robert L. Nussbaum, Robert Kleta, William A. Gahl, Manfred Boehm
Vydáno 2011Artigo -
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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and<i>KCNJ10</i>Mutations Autor Detlef Böckenhauer, Sally Feather, Horia Stanescu, Sascha Bandulik, Anselm A. Zdebik, Markus Reichold, Jonathan L. Tobin, Evelyn Lieberer, Christina Sterner, Guida Landouré, Ruchi Arora, Tony Sirimanna, Dorothy Thompson, J. Helen Cross, William van’t Hoff, Omar Masri, Kjell Tullus, Stella Yeung, Yair Anikster, Enriko Klootwijk, Michael Hubank, Michael J. Dillon, Dirk Heitzmann, Mauricio Arcos‐Burgos, Mark A. Knepper, Angus Dobbie, William A. Gahl, Richard Warth, Eamonn Sheridan, Robert Kleta
Vydáno 2009Artigo -
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Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness Autor Karl P. Schlingmann, Aparna Renigunta, Ewout J. Hoorn, A. W. Forst, Vijay Renigunta, Velko Atanasov, Sinthura Mahendran, Tahsin Stefan Barakat, Valentine Gillion, Nathalie Godefroid, Alice S. Brooks, Dorien Lugtenberg, Jennifer Lake, Huguette Debaix, Christoph Rudin, Bertrand Knebelmann, Stéphanie Tellier, Caroline Rousset‐Rouvière, Daan H.H.M. Viering, Jeroen H. F. de Baaij, Stefanie Weber, Oleg Palygin, Alexander Staruschenko, Robert Kleta, Pascal Houillier, Detlef Böckenhauer, Olivier Devuyst, Rosa Vargas‐Poussou, Richard Warth, Anselm A. Zdebik, Martin Konrad
Vydáno 2021Artigo -
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A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia Autor Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik, Friedrich Asmus, Marthe H. R. Ludtmann, Mina Ryten, Vincent Plagnol, Ann‐Kathrin Hauser, Sara Bandrés‐Ciga, Conceição Bettencourt, Paola Forabosco, Deborah Hughes, Marc P. M. Soutar, Kathryn J. Peall, Huw R. Morris, Daniah Trabzuni, Mehmet Tekman, Horia Stanescu, Robert Kleta, Miryam Carecchio, Giovanna Zorzi, Nardo Nardocci, Barbara Garavaglia, Ebba Lohmann, Anne Weißbach, Christine Klein, John Hardy, Alan Pittman, Thomas Foltynie, Andrey Y. Abramov, Thomas Gasser, Kailash P. Bhatia, Nicholas Wood
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Gene
Medicine
Neuroscience
Biochemistry
Endocrinology
Genetics
Internal medicine
Biophysics
Cell biology
Chemistry
Intracellular
Kidney
Membrane
Enzyme
Missense mutation
Mutation
Receptor
Tubulopathy
Anatomy
Ataxia
Chloride channel
Epilepsy
Organic chemistry
Phenotype
Vesicle
ATPase
Amino acid
Audiology
Cell