Ptácek LJ - Search Results

1

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24.

Plaster NM, Uyama E, Uchino M, Ikeda T, Flanigan KM, Kondo I, Ptácek LJ. Plaster NM, et al. Among authors: ptacek lj. Neurology. 1999 Oct 12;53(6):1180-3. doi: 10.1212/wnl.53.6.1180. Neurology. 1999. PMID: 10522869

2

Familial adult myoclonic epilepsy (FAME).

Uyama E, Fu YH, Ptácek LJ. Uyama E, et al. Among authors: ptacek lj. Adv Neurol. 2005;95:281-8. Adv Neurol. 2005. PMID: 15508931 Review. No abstract available.

3

Localization of the giant axonal neuropathy gene to chromosome 16q24.

Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschütter A, Ranells J, Camfield PR, Ptácek LJ. Flanigan KM, et al. Among authors: ptacek lj. Ann Neurol. 1998 Jan;43(1):143-8. doi: 10.1002/ana.410430126. Ann Neurol. 1998. PMID: 9450783

4

Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.

Coffeen CM, McKenna CE, Koeppen AH, Plaster NM, Maragakis N, Mihalopoulos J, Schwankhaus JD, Flanigan KM, Gregg RG, Ptácek LJ, Fu YH. Coffeen CM, et al. Among authors: ptacek lj. Hum Mol Genet. 2000 Mar 22;9(5):787-93. doi: 10.1093/hmg/9.5.787. Hum Mol Genet. 2000. PMID: 10749986

5

Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1.

Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptácek LJ. Flanigan K, et al. Among authors: ptacek lj. Am J Hum Genet. 1996 Aug;59(2):392-9. Am J Hum Genet. 1996. PMID: 8755926 Free PMC article.

6

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.

7

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

8

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptácek LJ. Bendahhou S, et al. Among authors: ptacek lj. J Biol Chem. 2003 Dec 19;278(51):51779-85. doi: 10.1074/jbc.M310278200. Epub 2003 Oct 1. J Biol Chem. 2003. PMID: 14522976 Free article.

9

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

10

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

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