Search

Now showing items 1-10 of 39

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

Wissenschaftlicher Artikel

Weinberger, Sebastian; Wojciechowski, Daniel; Sternberg, Damien; Lehmann-Horn, Frank; Jurkat-Rott, Karin; Becher, Toni; Begemann, Birgit; Fahlke, Christoph; Fischer, Martin (Universität Ulm, 2012)

7-T Cl-35 and Na-23 MR Imaging for Detection of Mutation-dependent Alterations in Muscular Edema and Fat Fraction with Sodium and Chloride Concentrations in Muscular Periodic Paralyses

Wissenschaftlicher Artikel

Weber, Marc-Andre; Nagel, Armin M.; Marschar, Anja M.; Glemser, Philip; Jurkat-Rott, Karin; Wolf, Maya B.; Ladd, Mark E.; Schlemmer, Heinz-Peter; Kauczor, Hans-Ulrich; Lehmann-Horn, Frank (Universität Ulm, 2016)

Painful cramps and giant myotonic discharges in a family with the NAV1.4-G1306A mutation

Wissenschaftlicher Artikel

Torbergsen, Torberg; Jurkat-Rott, Karin; Stalberg, Erik V.; Loseth, Sissel; Hodneo, Anne; Lehmann-Horn, Frank (Universität Ulm, 2015)

Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation

Wissenschaftlicher Artikel

Synofzik, Matthis; Schicks, Julia; Lindig, Tobias; Biskup, Saskia; Schmidt, Thorsten; Hansel, Jochen; Lehmann-Horn, Frank; Schoels, Ludger (Universität Ulm, 2011)

PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures

Wissenschaftlicher Artikel

Schubert, Julian; Paravidino, Roberta; Becker, Felicitas; Berger, Andrea; Bebek, Nerses; Bianchi, Amedeo; Brockmann, Knut; Capovilla, Giuseppe; Bernardina, Bernardo Dalla; Fukuyama, Yukio; Hoffmann, Georg F.; Jurkat-Rott, Karin; Anttonen, Anna-Kaisa; Kurlemann, Gerhard; Lehesjoki, Anna-Elina; Lehmann-Horn, Frank; Mastrangelo, Massimo; Mause, Ulrike; Mueller, Stephan; Neubauer, Bernd; et al. (Universität Ulm, 2012)

Monogenic channelopathies of the skeletal muscle

Wissenschaftlicher Artikel

Lehmann-Horn, Frank; Jurkat-Rott, K. (Universität Ulm, 2013)

A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris

Wissenschaftlicher Artikel

Zielonka, Daniel; Jurkat-Rott, Karin; Stachowiak, Pawel; Bryl, Anna; Marcinkowski, Jerzy T.; Lehmann-Horn, Frank (Universität Ulm, 2012)

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)

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)

Search

Filters