Ptácek LJ - Search Results

1

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Ptácek LJ. Ryan DP, et al. Among authors: ptacek lj. Cell. 2010 Jan 8;140(1):88-98. doi: 10.1016/j.cell.2009.12.024. Cell. 2010. PMID: 20074522 Free PMC article.

2

Identification of a mutation in the gene causing hyperkalemic periodic paralysis.

Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Ptácek LJ, et al. Cell. 1991 Nov 29;67(5):1021-7. doi: 10.1016/0092-8674(91)90374-8. Cell. 1991. PMID: 1659948

3

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, et al. Ptácek LJ, et al. Cell. 1994 Jun 17;77(6):863-8. doi: 10.1016/0092-8674(94)90135-x. Cell. 1994. PMID: 8004673

4

Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.

Ptacek LJ, Gouw L, Kwieciński H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF. Ptacek LJ, et al. Ann Neurol. 1993 Mar;33(3):300-7. doi: 10.1002/ana.410330312. Ann Neurol. 1993. PMID: 8388676

5

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. Among authors: ptacek lj. Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7. Cell. 2001. PMID: 11371347 Free article.

6

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. Donaldson MR, et al. Among authors: ptacek lj. Neurology. 2003 Jun 10;60(11):1811-6. doi: 10.1212/01.wnl.0000072261.14060.47. Neurology. 2003. PMID: 12796536

7

Correlating phenotype and genotype in the periodic paralyses.

Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Miller TM, et al. Among authors: ptacek lj. Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00. Neurology. 2004. PMID: 15534250

8

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. Among authors: ptacek lj. Brain. 2006 Jan;129(Pt 1):8-17. doi: 10.1093/brain/awh639. Epub 2005 Sep 29. Brain. 2006. PMID: 16195244 Review.

9

Andersen-Tawil syndrome: prospective cohort analysis and expansion of the phenotype.

Yoon G, Oberoi S, Tristani-Firouzi M, Etheridge SP, Quitania L, Kramer JH, Miller BL, Fu YH, Ptácek LJ. Yoon G, et al. Among authors: ptacek lj. Am J Med Genet A. 2006 Feb 15;140(4):312-21. doi: 10.1002/ajmg.a.31092. Am J Med Genet A. 2006. PMID: 16419128

10

Modeling of a human circadian mutation yields insights into clock regulation by PER2.

Xu Y, Toh KL, Jones CR, Shin JY, Fu YH, Ptácek LJ. Xu Y, et al. Among authors: ptacek lj. Cell. 2007 Jan 12;128(1):59-70. doi: 10.1016/j.cell.2006.11.043. Cell. 2007. PMID: 17218255 Free PMC article.

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