Ptácek LJ - Search Results

1

Andersen-Tawil syndrome: definition of a neurocognitive phenotype.

Yoon G, Quitania L, Kramer JH, Fu YH, Miller BL, Ptácek LJ. Yoon G, et al. Among authors: ptacek lj. Neurology. 2006 Jun 13;66(11):1703-10. doi: 10.1212/01.wnl.0000218214.64942.64. Neurology. 2006. PMID: 16769944 Clinical Trial.

2

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

3

An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.

Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptácek LJ, Fu YH. Toh KL, et al. Among authors: ptacek lj. Science. 2001 Feb 9;291(5506):1040-3. doi: 10.1126/science.1057499. Science. 2001. PMID: 11232563

4

Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients.

Einum DD, Townsend JJ, Ptácek LJ, Fu YH. Einum DD, et al. Among authors: ptacek lj. Neurogenetics. 2001 Mar;3(2):83-90. doi: 10.1007/s100480000100. Neurogenetics. 2001. PMID: 11354830

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

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptácek LJ. Bendahhou S, et al. Among authors: ptacek lj. Ann Neurol. 2001 Sep;50(3):417-20. doi: 10.1002/ana.1144. Ann Neurol. 2001. PMID: 11558801

7

Channelopathies: episodic disorders of the nervous system.

Ptacek LJ, Fu YH. Ptacek LJ, et al. Epilepsia. 2001;42 Suppl 5:35-43. doi: 10.1046/j.1528-1157.2001.0420s5035.x. Epilepsia. 2001. PMID: 11887966 Free article. Review. No abstract available.

8

Molecular biology of episodic movement disorders.

Ptácek LJ, Fu YH. Ptácek LJ, et al. Adv Neurol. 2002;89:453-8. Adv Neurol. 2002. PMID: 11968469 Review. No abstract available.

9

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ. Bendahhou S, et al. Among authors: ptacek lj. Neurology. 2002 Apr 23;58(8):1266-72. doi: 10.1212/wnl.58.8.1266. Neurology. 2002. PMID: 11971097

10

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Tristani-Firouzi M, et al. Among authors: ptacek lj. J Clin Invest. 2002 Aug;110(3):381-8. doi: 10.1172/JCI15183. J Clin Invest. 2002. PMID: 12163457 Free PMC article.

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