検索結果 - Jurkat–Rott, Karin

Muscle channelopathies and critical points in functional and genetic studies 著者: Jurkat-Rott, Karin, Lehmann-Horn, Frank

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The impact of splice isoforms on voltage-gated calcium channel α(1) subunits 著者: Jurkat-Rott, Karin, Lehmann-Horn, Frank

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Do Hyperpolarization-induced Proton Currents Contribute to the Pathogenesis of Hypokalemic Periodic Paralysis, a Voltage Sensor Channelopathy? 著者: Jurkat-Rott, Karin, Lehmann-Horn, Frank

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Pathophysiological Role of Omega Pore Current in Channelopathies 著者: Jurkat-Rott, Karin, Groome, James, Lehmann-Horn, Frank

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Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation 著者: Breitenbach, Simon, Lehmann-Horn, Frank, Jurkat-Rott, Karin

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The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients 著者: CAVEL-GREANT, DEBORAH, LEHMANN-HORN, FRANK, JURKAT-ROTT, KARIN

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Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation 著者: Groome, James R, Jurkat-Rott, Karin, Lehmann-Horn, Frank

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

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The role of fibrosis in Duchenne muscular dystrophy 著者: KLINGLER, WERNER, JURKAT-ROTT, KARIN, LEHMANN-HORN, FRANK, SCHLEIP, ROBERT

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Successful treatment of periodic paralysis with coenzyme Q10: two case reports 著者: Da, Yuwei, Lei, Lin, Jurkat-Rott, Karin, Lehmann-Horn, Frank

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ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro 著者: URSU, SIMONA-FELICIA, ALEKOV, ALEXI, MAO, NING-HUI, JURKAT-ROTT, KARIN

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A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia 著者: HOLZHERR, BORIS, LEHMANN-HORN, FRANK, KUZMENKINA, ELZA, FAN, CHUNXIANG, JURKAT-ROTT, KARIN

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Impairment of skeletal muscle adenosine triphosphate–sensitive K(+) channels in patients with hypokalemic periodic paralysis 著者: Tricarico, Domenico, Servidei, Serenella, Tonali, Pietro, Jurkat-Rott, Karin, Camerino, Diana Conte

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Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study 著者: Hoppe, Kerstin, Chaiklieng, Sunisa, Lehmann‐Horn, Frank, Jurkat‐Rott, Karin, Wearing, Scott, Klingler, Werner

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A Ca(V)1.1 Ca(2+) Channel Splice Variant with High Conductance and Voltage-Sensitivity Alters EC Coupling in Developing Skeletal Muscle 著者: Tuluc, Petronel, Molenda, Natalia, Schlick, Bettina, Obermair, Gerald J., Flucher, Bernhard E., Jurkat-Rott, Karin

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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance 著者: Hoppe, Kerstin, Jurkat-Rott, Karin, Kranepuhl, Stefanie, Wearing, Scott, Heiderich, Sebastian, Merlak, Sonja, Klingler, Werner

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Na(V)1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers 著者: Bayless-Edwards, Landon, Winston, Vern, Lehmann-Horn, Frank, Arinze, Paula, Groome, James R., Jurkat-Rott, Karin

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Neutralization of a negative charge in the S1–S2 region of the K(V)7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy 著者: Wuttke, Thomas V, Penzien, Johann, Fauler, Michael, Seebohm, Guiscard, Lehmann-Horn, Frank, Lerche, Holger, Jurkat-Rott, Karin

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Na(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery 著者: Groome, James R., Lehmann-Horn, Frank, Fan, Chunxiang, Wolf, Markus, Winston, Vern, Merlini, Luciano, Jurkat-Rott, Karin

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Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals 著者: Hoppe, Kerstin, Hack, Guido, Lehmann–Horn, Frank, Jurkat–Rott, Karin, Wearing, Scott, Zullo, Alberto, Carsana, Antonella, Klingler, Werner

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