Fu YH - Search Results

1

A novel gene causing a mendelian audiogenic mouse epilepsy.

Skradski SL, Clark AM, Jiang H, White HS, Fu YH, Ptácek LJ. Skradski SL, et al. Among authors: fu yh. Neuron. 2001 Aug 30;31(4):537-44. doi: 10.1016/s0896-6273(01)00397-x. Neuron. 2001. PMID: 11545713 Free article.

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: fu yh. Hum Mol Genet. 2000 Mar 22;9(5):787-93. doi: 10.1093/hmg/9.5.787. Hum Mol Genet. 2000. PMID: 10749986

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: fu yh. Neurogenetics. 2001 Mar;3(2):83-90. doi: 10.1007/s100480000100. Neurogenetics. 2001. PMID: 11354830

4

Channelopathies: episodic disorders of the nervous system.

Ptacek LJ, Fu YH. Ptacek LJ, et al. Among authors: fu yh. 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.

5

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: fu yh. Neurology. 2002 Apr 23;58(8):1266-72. doi: 10.1212/wnl.58.8.1266. Neurology. 2002. PMID: 11971097

6

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: fu yh. Science. 2001 Feb 9;291(5506):1040-3. doi: 10.1126/science.1057499. Science. 2001. PMID: 11232563

7

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: fu yh. Ann Neurol. 2001 Sep;50(3):417-20. doi: 10.1002/ana.1144. Ann Neurol. 2001. PMID: 11558801

8

Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.

Matilla A, Gorbea C, Einum DD, Townsend J, Michalik A, van Broeckhoven C, Jensen CC, Murphy KJ, Ptácek LJ, Fu YH. Matilla A, et al. Among authors: fu yh. Hum Mol Genet. 2001 Nov 15;10(24):2821-31. doi: 10.1093/hmg/10.24.2821. Hum Mol Genet. 2001. PMID: 11734547

9

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. Donaldson MR, et al. Among authors: fu yh. Neurology. 2003 Jun 10;60(11):1811-6. doi: 10.1212/01.wnl.0000072261.14060.47. Neurology. 2003. PMID: 12796536

10

Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.

La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S. La Spada AR, et al. Among authors: fu yh. Neuron. 2001 Sep 27;31(6):913-27. doi: 10.1016/s0896-6273(01)00422-6. Neuron. 2001. PMID: 11580893 Free article.

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