Ptáček LJ - Search Results

1

Gentry NW, Ashbrook LH, Fu YH, Ptáček LJ. Gentry NW, et al. Among authors: ptacek lj. J Clin Invest. 2021 Aug 16;131(16):e148282. doi: 10.1172/JCI148282. J Clin Invest. 2021. PMID: 34396981 Free PMC article. Review.

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

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.

7

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.

8

Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.

Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR. Garden GA, et al. Among authors: ptacek lj. J Neurosci. 2002 Jun 15;22(12):4897-905. doi: 10.1523/JNEUROSCI.22-12-04897.2002. J Neurosci. 2002. PMID: 12077187 Free PMC article.

9

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.

10

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures.

Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptácek LJ. Nakayama J, et al. Among authors: ptacek lj. Ann Neurol. 2002 Nov;52(5):654-7. doi: 10.1002/ana.10347. Ann Neurol. 2002. PMID: 12402266

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