Browsing by Institution "Zentrum für seltene Erkrankungen (ZSE)"

Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals

Wissenschaftlicher Artikel

Charles, G.; Zheng, C.; Lehmann-Horn, Frank; Jurkat-Rott, K.; Levitt, J. (Universität Ulm, 2013)

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

Wissenschaftlicher Artikel

Groome, James R.; Jurkat-Rott, Karin; Lehmann-Horn, Frank (Universität Ulm, 2014)

Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study

Wissenschaftlicher Artikel

Klingler, Werner; Heiderich, Sebastian; Girard, Thierry; Gravino, Elvira; Heffron, James J. A.; Johannsen, Stephan; Jurkat-Rott, Karin; Rueffert, Henrik; Schuster, Frank; Snoeck, Marc; Sorrentino, Vincenzo; Tegazzin, Vincenzo; Lehmann-Horn, Frank (Universität Ulm, 2014)

Hypokalemic Periodic Paralysis Induced by Thymic Hyperplasia and Relieved by Thymectomy

Wissenschaftlicher Artikel

Yang, Renrong; Jurkat-Rott, Karin; Cao, Jinlin; Wang, Guofeng; Seelig, Hans-Peter; Yang, Changping; Liu, Guibao; Pan, Lin; Zheng, Haiyan; Lehmann-Horn, Frank (Universität Ulm, 2013)

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

Wissenschaftlicher Artikel

Groome, James R.; Lehmann-Horn, Frank; Fan, Chunxiang; Wolf, Markus; Winston, Vern; Merlini, Luciano; Jurkat-Rott, Karin (Universität Ulm, 2014)

Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation

Wissenschaftlicher Artikel

Fan, Chunxiang; Lehmann-Horn, Frank; Weber, Marc-Andre; Bednarz, Marcin; Groome, James R.; Jonsson, Malin K. B.; Jurkat-Rott, Karin (Universität Ulm, 2013)