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PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures
Schubert, Julian et al. (2012)
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)
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)
Wissenschaftlicher Artikel
Pathophysiological role of omega pore current in channelopathies
Jurkat-Rott, Karin; Groome, James; Lehmann-Horn, Frank (2012)
Wissenschaftlicher Artikel
Sarcolemmal Ion Channelopathies
Jurkat-Rott, Karin; Lehmann-Horn, Frank (2013)
Teil eines Buches
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation
Fan, Chunxiang et al. (2013)
Wissenschaftlicher Artikel
Na(V)1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery
Groome, James R. et al. (2014)
Wissenschaftlicher Artikel
Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation
Groome, James R.; Jurkat-Rott, Karin; Lehmann-Horn, Frank (2014)
Wissenschaftlicher Artikel