Ptáček LJ - Search Results

1

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.

Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptáček LJ, Fu YH. Shi G, et al. Among authors: ptacek lj. Curr Biol. 2021 Jan 11;31(1):13-24.e4. doi: 10.1016/j.cub.2020.09.071. Epub 2020 Oct 15. Curr Biol. 2021. PMID: 33065013 Free article.

2

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

3

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

4

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.

5

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.

6

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.

7

A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.

Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH. Einum DD, et al. Among authors: ptacek lj. Arch Neurol. 2003 Jan;60(1):97-103. doi: 10.1001/archneur.60.1.97. Arch Neurol. 2003. PMID: 12533095

8

What's new in epilepsy genetics?

Ptácek LJ, Fu YH. Ptácek LJ, et al. Mol Psychiatry. 2003 May;8(5):463-5. doi: 10.1038/sj.mp.4001292. Mol Psychiatry. 2003. PMID: 12808423 Review. No abstract available.

9

Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity.

Donaldson MR, Yoon G, Fu YH, Ptacek LJ. Donaldson MR, et al. Among authors: ptacek lj. Ann Med. 2004;36 Suppl 1:92-7. doi: 10.1080/17431380410032490. Ann Med. 2004. PMID: 15176430 Free article. Review.

10

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.

Lee HY, Xu Y, Huang Y, Ahn AH, Auburger GW, Pandolfo M, Kwiecinski H, Grimes DA, Lang AE, Nielsen JE, Averyanov Y, Servidei S, Friedman A, Van Bogaert P, Abramowicz MJ, Bruno MK, Sorensen BF, Tang L, Fu YH, Ptácek LJ. Lee HY, et al. Among authors: ptacek lj. Hum Mol Genet. 2004 Dec 15;13(24):3161-70. doi: 10.1093/hmg/ddh330. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496428

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