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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. Plaster NM, et al. Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7. Cell. 2001. PMID: 11371347 Free article.
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC; CINCH investigators. Venance SL, et al. Brain. 2006 Jan;129(Pt 1):8-17. doi: 10.1093/brain/awh639. Epub 2005 Sep 29. Brain. 2006. PMID: 16195244 Review.
Modeling of IK1 mutations in human left ventricular myocytes and tissue.
Seemann G, Sachse FB, Weiss DL, Ptácek LJ, Tristani-Firouzi M. Seemann G, et al. Am J Physiol Heart Circ Physiol. 2007 Jan;292(1):H549-59. doi: 10.1152/ajpheart.00701.2006. Epub 2006 Aug 25. Am J Physiol Heart Circ Physiol. 2007. PMID: 16936001 Free article.
130 results