检索结果 - Anselm A. Zdebik

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  1. 1
    Potassium Ion Movement in the Inner Ear: Insights from Genetic Disease and Mouse Models

    Potassium Ion Movement in the Inner Ear: Insights from Genetic Disease and Mouse Models 由 Anselm A. Zdebik, Philine Wangemann, Thomas J. Jentsch

    出版 2009
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  2. 2
    Residues Important for Nitrate/Proton Coupling in Plant and Mammalian CLC Transporters

    Residues Important for Nitrate/Proton Coupling in Plant and Mammalian CLC Transporters 由 Eun-Yeong Bergsdorf, Anselm A. Zdebik, Thomas J. Jentsch

    出版 2009
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  3. 3
    Renal involvement in primary Sjögren’s syndrome

    Renal involvement in primary Sjögren’s syndrome 由 Rhys Evans, Anselm A. Zdebik, Coziana Ciurtin, Stephen B. Walsh

    出版 2015
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  4. 4
    Role of the Vesicular Chloride Transporter ClC-3 in Neuroendocrine Tissue

    Role of the Vesicular Chloride Transporter ClC-3 in Neuroendocrine Tissue 由 Tanja Maritzen, Damien J. Keating, Ioana Neagoe, Anselm A. Zdebik, Thomas J. Jentsch

    出版 2008
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  5. 5
    Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings

    Epilepsy in kcnj10 Morphant Zebrafish Assessed with a Novel Method for Long-Term EEG Recordings 由 Anselm A. Zdebik, Fahad Mahmood, Horia Stanescu, Robert Kleta, Detlef Böckenhauer, Claire Russell

    出版 2013
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  6. 6
    Additional Disruption of the ClC-2 Cl- Channel Does Not Exacerbate the Cystic Fibrosis Phenotype of Cystic Fibrosis Transmembrane Conductance Regulator Mouse Models

    Additional Disruption of the ClC-2 Cl- Channel Does Not Exacerbate the Cystic Fibrosis Phenotype of Cystic Fibrosis Transmembrane Conductance Regulator Mouse Models 由 Anselm A. Zdebik, John E. Cuffe, Marko Bertog, Christoph Korbmacher, Thomas J. Jentsch

    出版 2004
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  7. 7
    Determinants of Anion-Proton Coupling in Mammalian Endosomal CLC Proteins

    Determinants of Anion-Proton Coupling in Mammalian Endosomal CLC Proteins 由 Anselm A. Zdebik, Giovanni Zifarelli, Eun-Yeong Bergsdorf, Paolo Soliani, Olaf Scheel, Thomas J. Jentsch, Michael Pusch

    出版 2007
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  8. 8
    Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV

    Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV 由 Gesa Rickheit, H. Maier, Nicola Strenzke, Corina Andreescu, Chris I. De Zeeuw, A. Muenscher, Anselm A. Zdebik, Thomas J. Jentsch

    出版 2008
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  9. 9
    Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

    Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome 由 Fahad Mahmood, Monika Mozere, Anselm A. Zdebik, Horia Stanescu, Jonathan L. Tobin, Philip L. Beales, Robert Kleta, Detlef Böckenhauer, Claire Russell

    出版 2013
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  10. 10
    Male germ cells and photoreceptors, both dependent on close cell–cell interactions, degenerate upon ClC-2 Cl− channel disruption

    Male germ cells and photoreceptors, both dependent on close cell–cell interactions, degenerate upon ClC-2 Cl− channel disruption 由 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

    出版 2001
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  11. 11
    Renal intercalated cells are rather energized by a proton than a sodium pump

    Renal intercalated cells are rather energized by a proton than a sodium pump 由 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

    出版 2013
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  12. 12
    Disruption of ClC-3, a Chloride Channel Expressed on Synaptic Vesicles, Leads to a Loss of the Hippocampus

    Disruption of ClC-3, a Chloride Channel Expressed on Synaptic Vesicles, Leads to a Loss of the Hippocampus 由 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

    出版 2001
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  13. 13
    Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6

    Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 由 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

    出版 2006
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  14. 14
    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

    Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome 由 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

    出版 2011
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  15. 15
    KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

    KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function 由 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

    出版 2010
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  16. 16
    Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

    Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C 由 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

    出版 2009
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  17. 17
    <i>NT5E</i>Mutations and Arterial Calcifications

    <i>NT5E</i>Mutations and Arterial Calcifications 由 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

    出版 2011
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  18. 18
    Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and<i>KCNJ10</i>Mutations

    Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and<i>KCNJ10</i>Mutations 由 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

    出版 2009
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  19. 19
    Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness

    Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness 由 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

    出版 2021
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  20. 20
    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

    A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia 由 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

    出版 2015
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