Ptácek LJ - Search Results

1

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

2

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

3

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.

4

Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus.

Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. Ptacek LJ, et al. Am J Hum Genet. 1991 Aug;49(2):378-82. Am J Hum Genet. 1991. PMID: 1651050 Free PMC article.

5

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.

6

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

7

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

8

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

9

Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis.

Fouad G, Dalakas M, Servidei S, Mendell JR, Van den Bergh P, Angelini C, Alderson K, Griggs RC, Tawil R, Gregg R, Hogan K, Powers PA, Weinberg N, Malonee W, Ptácek LJ. Fouad G, et al. Among authors: ptacek lj. Neuromuscul Disord. 1997 Jan;7(1):33-8. doi: 10.1016/s0960-8966(96)00401-4. Neuromuscul Disord. 1997. PMID: 9132138 Free article.

10

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ. Bendahhou S, et al. Among authors: ptacek lj. J Neurosci. 1999 Jun 15;19(12):4762-71. doi: 10.1523/JNEUROSCI.19-12-04762.1999. J Neurosci. 1999. PMID: 10366610 Free PMC article.

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