Ptacek LJ - Search Results

1

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

2

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

3

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

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

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.

Zhang J, George AL Jr, Griggs RC, Fouad GT, Roberts J, Kwieciński H, Connolly AM, Ptácek LJ. Zhang J, et al. Among authors: ptacek lj. Neurology. 1996 Oct;47(4):993-8. doi: 10.1212/wnl.47.4.993. Neurology. 1996. PMID: 8857733

10

Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies.

Swoboda KJ, Soong B, McKenna C, Brunt ER, Litt M, Bale JF Jr, Ashizawa T, Bennett LB, Bowcock AM, Roach ES, Gerson D, Matsuura T, Heydemann PT, Nespeca MP, Jankovic J, Leppert M, Ptácek LJ. Swoboda KJ, et al. Among authors: ptacek lj. Neurology. 2000 Jul 25;55(2):224-30. doi: 10.1212/wnl.55.2.224. Neurology. 2000. PMID: 10908896

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