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)
Get full text
Journal Article
Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
Schubert, Julian, Siekierska, Aleksandra, Langlois, Mélanie, May, Patrick, Huneau, Clément, Becker, Felicitas, Muhle, Hiltrud, Suls, Arvid, Lemke, Johannes R, de Kovel, Carolien G F, Thiele, Holger, Konrad, Kathryn, Kawalia, Amit, Toliat, Mohammad R, Sander, Thomas, Rüschendorf, Franz, Caliebe, Almuth, Nagel, Inga, Kohl, Bernard, Kecskés, Angela, Jacmin, Maxime, Hardies, Katia, Weckhuysen, Sarah, Riesch, Erik, Dorn, Thomas, Brilstra, Eva H, Baulac, Stephanie, Møller, Rikke S, Hjalgrim, Helle, Koeleman, Bobby P C, Jurkat-Rott, Karin, Lehman-Horn, Frank, Roach, Jared C, Glusman, Gustavo, Hood, Leroy, Galas, David J, Martin, Benoit, de Witte, Peter A M, Biskup, Saskia, De Jonghe, Peter, Helbig, Ingo, Balling, Rudi, Nürnberg, Peter, Crawford, Alexander D, Esguerra, Camila V, Weber, Yvonne G, Lerche, Holger
Published in Nature genetics (01.12.2014)
Published in Nature genetics (01.12.2014)
Get full text
Journal Article
The Direct Energy Demand of Internet Data Flows
Coroama, Vlad C., Hilty, Lorenz M., Heiri, Ernst, Horn, Frank M.
Published in Journal of industrial ecology (01.10.2013)
Published in Journal of industrial ecology (01.10.2013)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get more information
Journal Article
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)
Get full text
Journal Article
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes
Zullo, Alberto, Klingler, Werner, De Sarno, Claudia, Ferrara, Marina, Fortunato, Giuliana, Perrotta, Giuseppa, Gravino, Elvira, Di Noto, Rosella, Lehmann-Horn, Frank, Melzer, Werner, Salvatore, Francesco, Carsana, Antonella
Published in Human mutation (01.04.2009)
Published in Human mutation (01.04.2009)
Get full text
Journal Article
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)
Get full text
Journal Article
Pathophysiological role of omega pore current in channelopathies
Jurkat-Rott, Karin, Groome, James, Lehmann-Horn, Frank
Published in Frontiers in pharmacology (01.01.2012)
Published in Frontiers in pharmacology (01.01.2012)
Get full text
Journal Article