檢索結果 - Karin Jurkat‐Rott

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  1. 1
    Muscle channelopathies and critical points in functional and genetic studies

    Muscle channelopathies and critical points in functional and genetic studies 由 Karin Jurkat‐Rott

    出版 2005
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  2. 2
    Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis

    Genotype-Phenotype Correlation and Therapeutic Rationale in Hyperkalemic Periodic Paralysis 由 Karin Jurkat‐Rott, Frank Lehmann‐Horn

    出版 2007
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  3. 3
    Pathophysiological Role of Omega Pore Current in Channelopathies

    Pathophysiological Role of Omega Pore Current in Channelopathies 由 Karin Jurkat‐Rott, James R. Groome, Frank Lehmann‐Horn

    出版 2012
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  4. 4
    Sodium channelopathies of skeletal muscle result from gain or loss of function

    Sodium channelopathies of skeletal muscle result from gain or loss of function 由 Karin Jurkat‐Rott, Boris Holzherr, Michael Fauler, Frank Lehmann‐Horn

    出版 2010
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  5. 5
    Impairment of skeletal muscle adenosine triphosphate–sensitive K+ channels in patients with hypokalemic periodic paralysis

    Impairment of skeletal muscle adenosine triphosphate–sensitive K+ channels in patients with hypokalemic periodic paralysis 由 Domenico Tricarico, Serenella Servidei, P. Tonali, Karin Jurkat‐Rott, Diana Conte Camerino

    出版 1999
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  6. 6
    Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals

    Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals 由 G D Brook Charles, Chu Zheng, Frank Lehmann‐Horn, Karin Jurkat‐Rott, J. Levitt

    出版 2013
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  7. 7
    A CaV1.1 Ca2+ Channel Splice Variant with High Conductance and Voltage-Sensitivity Alters EC Coupling in Developing Skeletal Muscle

    A CaV1.1 Ca2+ Channel Splice Variant with High Conductance and Voltage-Sensitivity Alters EC Coupling in Developing Skeletal Muscle 由 Petronel Tuluc, Natalia Molenda, Bettina Schlick, Gerald J. Obermair, Bernhard E. Flucher, Karin Jurkat‐Rott

    出版 2009
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  8. 8
    NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

    NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery 由 James R. Groome, Frank Lehmann‐Horn, Chunxiang Fan, Markus Wolf, Vern Winston, Luciano Merlini, Karin Jurkat‐Rott

    出版 2014
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  9. 9
    Muscle Na <sup>+</sup> channelopathies

    Muscle Na <sup>+</sup> channelopathies 由 Marc‐André Weber, Sònia Nielles‐Vallespin, Marco Essig, Karin Jurkat‐Rott, Hans‐Ulrich Kauczor, F. Lehmann‐Horn

    出版 2006
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  10. 10
    Early-onset familial hemiplegic migraine due to a novel <i>SCN1A</i> mutation

    Early-onset familial hemiplegic migraine due to a novel <i>SCN1A</i> mutation 由 Chunxiang Fan, Stefan Wolking, Frank Lehmann‐Horn, Ulrike B. S. Hedrich, Tobias Freilinger, Holger Lerche, Guntram Borck, Christian Kubisch, Karin Jurkat‐Rott

    出版 2016
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  11. 11
    K <sup>+</sup> -dependent paradoxical membrane depolarization and Na <sup>+</sup> overload, major and reversible contributors to weakness by ion channel leaks

    K <sup>+</sup> -dependent paradoxical membrane depolarization and Na <sup>+</sup> overload, major and reversible contributors to weakness by ion channel leaks 由 Karin Jurkat‐Rott, Marc‐André Weber, Michael Fauler, Xiuhai Guo, Boris Holzherr, Agathe Paczulla, Nikolai Baastrup Nordsborg, Wolfgang Jöechle, Frank Lehmann‐Horn

    出版 2009
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  12. 12
    Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current

    Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current 由 Karin Jurkat‐Rott, Nenad Mitrović, Chao Hang, Alexei Kouzmenkine, Paul A. Iaizzo, Jürgen Herzog, Holger Lerche, Sophie Nicole, J. Vale-Santos, Dominique Chauveau, Bertrand Fontaine, Frank Lehmann‐Horn

    出版 2000
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  13. 13
    A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions

    A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions 由 Holger Lerche, Christian Biervert, Alexi K. Alekov, Lothar Schleithoff, Martin Lindner, Werner Klingler, Frank Bretschneider, Nenad Mitrović, Karin Jurkat‐Rott, Harald Bode, F. Lehmann‐Horn, Ortrud K. Steinlein

    出版 1999
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  14. 14
    Rare missense variants inATP1A2 in families with clustering of common forms of migraine

    Rare missense variants inATP1A2 in families with clustering of common forms of migraine 由 Unda Todt, Martin Dichgans, Karin Jurkat‐Rott, Axel Heinze, Giovanni Zifarelli, Jan J. Koenderink, Ingrid Goebel, Vera Zumbroich, Anne Stiller, Alfredo Ramı́rez, Thomas Friedrich, Hartmut Göbel, Christian Kubisch

    出版 2005
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  15. 15
    Fascial tissue research in sports medicine: from molecules to tissue adaptation, injury and diagnostics: consensus statement

    Fascial tissue research in sports medicine: from molecules to tissue adaptation, injury and diagnostics: consensus statement 由 Martina Zügel, Constantinos N. Maganaris, Jan Wilke, Karin Jurkat‐Rott, Werner Klingler, Scott Wearing, Thomas Findley, Mary F. Barbe, Jürgen M. Steinacker, Andry Vleeming, Wilhelm Bloch, Robert Schleip, Paul W. Hodges

    出版 2018
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  16. 16
    A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

    A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias 由 Michael Strupp, R. Kalla, Jens Claaßen, Christine Adrion, Ulrich Mansmann, Thomas Klopstock, Tobias Freilinger, Hermann Neugebauer, Rainer Spiegel, Martin Dichgans, F. Lehmann‐Horn, Karin Jurkat‐Rott, T. Brandt, Joanna C. Jen, Klaus Jahn

    出版 2011
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  17. 17
    Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

    Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study 由 Werner Klingler, Sebastian Heiderich, Thierry Girard, E Gravino, J.J.A. Heffron, Stephan Johannsen, Karin Jurkat‐Rott, Henrik Rüffert, Frank Schuster, M.M.J. Snoeck, Vincenzo Sorrentino, Vincenzo Tegazzin, Frank Lehmann‐Horn

    出版 2014
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  18. 18
    Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing?

    Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? 由 Rachel L. Robinson, Martin Anetseder, Virginia Brancadoro, C van Broekhoven, Antonella Carsana, K. Censier, Giuliana Fortunato, Thierry Girard, Luc Heytens, Philip M. Hopkins, Karin Jurkat‐Rott, W Klinger, G. Kozak‐Ribbens, R Krivosic, Nicole Monnier, Y. Nivoche, D Olthoff, Henrik Rueffert, Vincenzo Sorrentino, Vincenzo Tegazzin, C R Mueller

    出版 2003
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  19. 19
    Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

    Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Sin... 由 Linda L. Bachinski, Bjarne Udd, G. Meola, Valeria Sansone, Guillaume Bassez, B. Eymard, Charles A. Thornton, Richard T. Moxley, Peter S. Harper, Mark T. Rogers, Karin Jurkat‐Rott, Frank Lehmann‐Horn, Thomas Wieser, Josep Gámez, Carmen Navarro, Armand Bottani, André Köhler, Mark D. Shriver, Riitta Sallinen, Maija Wessman, Shanxiang Zhang, Fred A. Wright, Ralf Krahe

    出版 2003
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