Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study
Hoppe, Kerstin, Chaiklieng, Sunisa, Lehmann‐Horn, Frank, Jurkat‐Rott, Karin, Wearing, Scott, Klingler, Werner
Published in The Journal of physiology (01.01.2019)
Published in The Journal of physiology (01.01.2019)
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Disease‐causing mutations C277R and C277Y modify gating of human ClC‐1 chloride channels in myotonia congenita
Weinberger, Sebastian, Wojciechowski, Daniel, Sternberg, Damien, Lehmann‐Horn, Frank, Jurkat‐Rott, Karin, Becher, Toni, Begemann, Birgit, Fahlke, Christoph, Fischer, Martin
Published in The Journal of physiology (01.08.2012)
Published in The Journal of physiology (01.08.2012)
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Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome
Seebohm, Guiscard, Strutz-Seebohm, Nathalie, Ursu, Oana N, Preisig-Müller, Regina, Zuzarte, Marylou, Hill, Elaine V, Kienitz, Marie-Cécile, Bendahhou, Said, Fauler, Michael, Tapken, Daniel, Decher, Niels, Collins, Anthony, Jurkat-Rott, Karin, Steinmeyer, Klaus, Lehmann-Horn, Frank, Daut, Jürgen, Tavaré, Jeremy M, Pott, Lutz, Bloch, Wilhelm, Lang, Florian
Published in The FASEB journal (01.02.2012)
Published in The FASEB journal (01.02.2012)
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Journal Article
Sodium channelopathies of skeletal muscle result from gain or loss of function
Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank
Published in Pflügers Archiv (01.07.2010)
Published in Pflügers Archiv (01.07.2010)
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Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families
Weber, Yvonne G., Berger, Andrea, Bebek, Nerses, Maier, Sabine, Karafyllakes, Skevos, Meyer, Nancy, Fukuyama, Yukio, Halbach, Anne, Hikel, Christiane, Kurlemann, Gerhard, Neubauer, Bernd, Osawa, Makiko, Püst, Burkhard, Rating, Dietz, Saito, Kayoko, Stephani, Ulrich, Tauer, Ulrike, Lehmann‐Horn, Frank, Jurkat‐Rott, Karin, Lerche, Holger
Published in Epilepsia (Copenhagen) (01.06.2004)
Published in Epilepsia (Copenhagen) (01.06.2004)
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Nav1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery
GROOME, James R, LEHMANN-HORN, Frank, CHUNXIANG FAN, WOLF, Markus, WINSTON, Vern, MERLINI, Luciano, JURKAT-ROTT, Karin
Published in Brain (London, England : 1878) (01.04.2014)
Published in Brain (London, England : 1878) (01.04.2014)
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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
Weber, Yvonne G, Storch, Alexander, Wuttke, Thomas V, Brockmann, Knut, Kempfle, Judith, Maljevic, Snezana, Margari, Lucia, Kamm, Christoph, Schneider, Susanne A, Huber, Stephan M, Pekrun, Arnulf, Roebling, Robert, Seebohm, Guiscard, Koka, Saisudha, Lang, Camelia, Kraft, Eduard, Blazevic, Dragica, Salvo-Vargas, Alberto, Fauler, Michael, Mottaghy, Felix M, Münchau, Alexander, Edwards, Mark J, Presicci, Anna, Margari, Francesco, Gasser, Thomas, Lang, Florian, Bhatia, Kailash P, Lehmann-Horn, Frank, Lerche, Holger
Published in The Journal of clinical investigation (01.06.2008)
Published in The Journal of clinical investigation (01.06.2008)
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NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers
Bayless-Edwards, Landon, Winston, Vern, Lehmann-Horn, Frank, Arinze, Paula, Groome, James R., Jurkat-Rott, Karin
Published in Scientific reports (10.07.2018)
Published in Scientific reports (10.07.2018)
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Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation
Hoppe, Kerstin, Sartorius, Tina, Chaiklieng, Sunisa, Wietzorrek, Georg, Ruth, Peter, Jurkat-Rott, Karin, Wearing, Scott, Lehmann-Horn, Frank, Klingler, Werner
Published in Frontiers in physiology (23.11.2020)
Published in Frontiers in physiology (23.11.2020)
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3D radial projection technique with ultrashort echo times for sodium MRI: Clinical applications in human brain and skeletal muscle
Nielles-Vallespin, Sònia, Weber, Marc-André, Bock, Michael, Bongers, André, Speier, Peter, Combs, Stephanie E., Wöhrle, Johannes, Lehmann-Horn, Frank, Essig, Marco, Schad, Lothar R.
Published in Magnetic resonance in medicine (01.01.2007)
Published in Magnetic resonance in medicine (01.01.2007)
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PRRT2 Mutations are the major cause of benign familial infantile seizures
Schubert, Julian, Paravidino, Roberta, Becker, Felicitas, Berger, Andrea, Bebek, Nerses, Bianchi, Amedeo, Brockmann, Knut, Capovilla, Giuseppe, Dalla Bernardina, Bernardo, Fukuyama, Yukio, Hoffmann, Georg F., Jurkat-Rott, Karin, Anttonen, Anna-Kaisa, Kurlemann, Gerhard, Lehesjoki, Anna-Elina, Lehmann-Horn, Frank, Mastrangelo, Massimo, Mause, Ulrike, Müller, Stephan, Neubauer, Bernd, Püst, Burkhard, Rating, Dietz, Robbiano, Angela, Ruf, Susanne, Schroeder, Christopher, Seidel, Andreas, Specchio, Nicola, Stephani, Ulrich, Striano, Pasquale, Teichler, Jens, Turkdogan, Dilsad, Vigevano, Federico, Viri, Maurizio, Bauer, Peter, Zara, Federico, Lerche, Holger, Weber, Yvonne G.
Published in Human mutation (01.10.2012)
Published in Human mutation (01.10.2012)
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Painful cramps and giant myotonic discharges in a family with the Nav1.4‐G1306A mutation
Torbergsen, Torberg, Jurkat‐Rott, Karin, StÅLberg, Erik V., Løseth, Sissel, Hødneø, Anne, Lehmann‐Horn, Frank
Published in Muscle & nerve (01.10.2015)
Published in Muscle & nerve (01.10.2015)
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Expression in mammalian cells and electrophysiological characterization of two mutant Kv1.1 channels causing episodic ataxia type 1 (EA-1)
Bretschneider, Frank, Wrisch, Anja, Lehmann-Horn, Frank, Grissmer, Stephan
Published in The European journal of neuroscience (01.07.1999)
Published in The European journal of neuroscience (01.07.1999)
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Selective blockage of Kv1.3 and Kv3.1 channels increases neural progenitor cell proliferation
Liebau, Stefan, Pröpper, Christian, Böckers, Tobias, Lehmann‐Horn, Frank, Storch, Alexander, Grissmer, Stephan, Wittekindt, Oliver H.
Published in Journal of neurochemistry (01.10.2006)
Published in Journal of neurochemistry (01.10.2006)
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Journal Article
Myotonia in DNM2-related centronuclear myopathy
Dabby, Ron, Sadeh, Menachem, Gilad, Ronit, Jurkat-Rott, Karin, Lehmann-Horn, Frank, Leshinsky-Silver, Esther
Published in Journal of Neural Transmission (01.05.2014)
Published in Journal of Neural Transmission (01.05.2014)
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