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PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
Schubert, Julian et al. (2012)
Wissenschaftlicher Artikel
Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation
Synofzik, Matthis et al. (2011)
Wissenschaftlicher Artikel
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome
Seebohm, Guiscard et al. (2012)
Wissenschaftlicher Artikel
Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita
Weinberger, Sebastian et al. (2012)
Wissenschaftlicher Artikel
Painful cramps and giant myotonic discharges in a family with the NAV1.4-G1306A mutation
Torbergsen, Torberg et al. (2015)
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Monogenic channelopathies of the skeletal muscle
Lehmann-Horn, Frank; Jurkat-Rott, K. (2013)
Wissenschaftlicher Artikel
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
Weber, Marc-Andre et al. (2016)
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Pathophysiological role of omega pore current in channelopathies
Jurkat-Rott, Karin; Groome, James; Lehmann-Horn, Frank (2012)
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Open-and closed-state fast inactivation in sodium channels Differential effects of a site-3 anemone toxin
Groome, James R.; Lehmann-Horn, Frank; Holzherr, Boris D. (2011)
Wissenschaftlicher Artikel
In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita
Hoppe, K. et al. (2013)
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