Muscle channelopathies and critical points in functional and genetic studies

Por Jurkat-Rott, Karin, Lehmann-Horn, Frank
Publicado em 2005

The impact of splice isoforms on voltage-gated calcium channel α(1) subunits

Por Jurkat-Rott, Karin, Lehmann-Horn, Frank
Publicado em 2004

Do Hyperpolarization-induced Proton Currents Contribute to the Pathogenesis of Hypokalemic Periodic Paralysis, a Voltage Sensor Channelopathy?

Por Jurkat-Rott, Karin, Lehmann-Horn, Frank
Publicado em 2007

Pathophysiological Role of Omega Pore Current in Channelopathies

Por Jurkat-Rott, Karin, Groome, James, Lehmann-Horn, Frank
Publicado em 2012

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients

Por Kuhn, Marius, Jurkat-Rott, Karin, Lehmann-Horn, Frank
Publicado no J Neurol Neurosurg Psychiatry (2016)

Eplerenone repolarizes muscle membrane through Na,K-ATPase activation by Tyr10 dephosphorylation

Por Breitenbach, Simon, Lehmann-Horn, Frank, Jurkat-Rott, Karin
Publicado no Acta Myol (2016)

The impact of permanent muscle weakness on quality of life in periodic paralysis: a survey of 66 patients

Por CAVEL-GREANT, DEBORAH, LEHMANN-HORN, FRANK, JURKAT-ROTT, KARIN
Publicado em 2012

Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

Por Groome, James R, Jurkat-Rott, Karin, Lehmann-Horn, Frank
Publicado no Channels (Austin) (2014)

Sodium channelopathies of skeletal muscle result from gain or loss of function

Por Jurkat-Rott, Karin, Holzherr, Boris, Fauler, Michael, Lehmann-Horn, Frank
Publicado em 2010

The role of fibrosis in Duchenne muscular dystrophy

Por KLINGLER, WERNER, JURKAT-ROTT, KARIN, LEHMANN-HORN, FRANK, SCHLEIP, ROBERT
Publicado em 2012

Successful treatment of periodic paralysis with coenzyme Q10: two case reports

Por Da, Yuwei, Lei, Lin, Jurkat-Rott, Karin, Lehmann-Horn, Frank
Publicado no Acta Myol (2016)

ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro

Por URSU, SIMONA-FELICIA, ALEKOV, ALEXI, MAO, NING-HUI, JURKAT-ROTT, KARIN
Publicado em 2012

Impairment of skeletal muscle adenosine triphosphate–sensitive K(+) channels in patients with hypokalemic periodic paralysis

Por Tricarico, Domenico, Servidei, Serenella, Tonali, Pietro, Jurkat-Rott, Karin, Camerino, Diana Conte
Publicado em 1999

A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia

Por HOLZHERR, BORIS, LEHMANN-HORN, FRANK, KUZMENKINA, ELZA, FAN, CHUNXIANG, JURKAT-ROTT, KARIN
Publicado em 2014

A Ca(V)1.1 Ca(2+) Channel Splice Variant with High Conductance and Voltage-Sensitivity Alters EC Coupling in Developing Skeletal Muscle

Por Tuluc, Petronel, Molenda, Natalia, Schlick, Bettina, Obermair, Gerald J., Flucher, Bernhard E., Jurkat-Rott, Karin
Publicado em 2009

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

Por Wuttke, Thomas V, Penzien, Johann, Fauler, Michael, Seebohm, Guiscard, Lehmann-Horn, Frank, Lerche, Holger, Jurkat-Rott, Karin
Publicado em 2008

Na(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

Por Groome, James R., Lehmann-Horn, Frank, Fan, Chunxiang, Wolf, Markus, Winston, Vern, Merlini, Luciano, Jurkat-Rott, Karin
Publicado em 2014

Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals

Por Hoppe, Kerstin, Hack, Guido, Lehmann–Horn, Frank, Jurkat–Rott, Karin, Wearing, Scott, Zullo, Alberto, Carsana, Antonella, Klingler, Werner
Publicado no Sci Rep (2016)

Rationale for treating oedema in Duchenne muscular dystrophy with eplerenone

Por LEHMANN-HORN, FRANK, WEBER, MARC-ANDRÉ, NAGEL, ARMIN M., MEINCK, HANS-MICHAEL, BREITENBACH, SIMON, SCHARRER, JOHANNES, JURKAT-ROTT, KARIN
Publicado em 2012

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita

Por Weinberger, Sebastian, Wojciechowski, Daniel, Sternberg, Damien, Lehmann-Horn, Frank, Jurkat-Rott, Karin, Becher, Toni, Begemann, Birgit, Fahlke, Christoph, Fischer, Martin
Publicado em 2012