Ptácek LJ - Search Results

1

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

2

Linkage of atypical myotonia congenita to a sodium channel locus.

Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Ptacek LJ, et al. Neurology. 1992 Feb;42(2):431-3. doi: 10.1212/wnl.42.2.431. Neurology. 1992. PMID: 1310531

3

Evidence of genetic heterogeneity among the nondystrophic myotonias.

Ptacek LJ, Ziter FA, Roberts JW, Leppert MF. Ptacek LJ, et al. Neurology. 1992 May;42(5):1046-8. doi: 10.1212/wnl.42.5.1046. Neurology. 1992. PMID: 1315941

4

Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.

Ptácek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Ptácek LJ, et al. Neuron. 1992 May;8(5):891-7. doi: 10.1016/0896-6273(92)90203-p. Neuron. 1992. PMID: 1316765

5

The periodic paralyses.

Griggs RC, Ptácek LJ. Griggs RC, et al. Among authors: ptacek lj. Hosp Pract (Off Ed). 1992 Nov 15;27(11):123-6, 129-30, 136-7. doi: 10.1080/21548331.1992.11705525. Hosp Pract (Off Ed). 1992. PMID: 1331137 Review.

6

Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.

Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Ptacek LJ, et al. Am J Hum Genet. 1991 Oct;49(4):851-4. Am J Hum Genet. 1991. PMID: 1654742 Free PMC article.

7

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

8

Genetics and physiology of the myotonic muscle disorders.

Ptacek LJ, Johnson KJ, Griggs RC. Ptacek LJ, et al. N Engl J Med. 1993 Feb 18;328(7):482-9. doi: 10.1056/NEJM199302183280707. N Engl J Med. 1993. PMID: 7678441 Review. No abstract available.

9

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

10

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.

Ptáĉek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Ptáĉek LJ, et al. Neurology. 1994 Aug;44(8):1500-3. doi: 10.1212/wnl.44.8.1500. Neurology. 1994. PMID: 8058156

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