Fischbeck KH - Search Results

1

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20.

Knight MA, Hernandez D, Diede SJ, Dauwerse HG, Rafferty I, van de Leemput J, Forrest SM, Gardner RJ, Storey E, van Ommen GJ, Tapscott SJ, Fischbeck KH, Singleton AB. Knight MA, et al. Among authors: fischbeck kh. Hum Mol Genet. 2008 Dec 15;17(24):3847-53. doi: 10.1093/hmg/ddn283. Epub 2008 Sep 18. Hum Mol Genet. 2008. PMID: 18801880 Free PMC article.

2

A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.

Nieuwenhuijsen BW, Chen KL, Chinault AC, Wang S, Valmiki VH, Meershoek EJ, van Ommen GJ, Fischbeck KH. Nieuwenhuijsen BW, et al. Among authors: fischbeck kh. Hum Mol Genet. 1992 Nov;1(8):605-12. doi: 10.1093/hmg/1.8.605. Hum Mol Genet. 1992. PMID: 1301169

3

Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.

Gouw LG, Castañeda MA, McKenna CK, Digre KB, Pulst SM, Perlman S, Lee MS, Gomez C, Fischbeck K, Gagnon D, Storey E, Bird T, Jeri FR, Ptácek LJ. Gouw LG, et al. Hum Mol Genet. 1998 Mar;7(3):525-32. doi: 10.1093/hmg/7.3.525. Hum Mol Genet. 1998. PMID: 9467013

4

CREB-binding protein sequestration by expanded polyglutamine.

McCampbell A, Taylor JP, Taye AA, Robitschek J, Li M, Walcott J, Merry D, Chai Y, Paulson H, Sobue G, Fischbeck KH. McCampbell A, et al. Among authors: fischbeck kh. Hum Mol Genet. 2000 Sep 1;9(14):2197-202. doi: 10.1093/hmg/9.14.2197. Hum Mol Genet. 2000. PMID: 10958659

5

Altered transcriptional regulation in cells expressing the expanded polyglutamine androgen receptor.

Lieberman AP, Harmison G, Strand AD, Olson JM, Fischbeck KH. Lieberman AP, et al. Among authors: fischbeck kh. Hum Mol Genet. 2002 Aug 15;11(17):1967-76. doi: 10.1093/hmg/11.17.1967. Hum Mol Genet. 2002. PMID: 12165558

6

Aggresomes protect cells by enhancing the degradation of toxic polyglutamine-containing protein.

Taylor JP, Tanaka F, Robitschek J, Sandoval CM, Taye A, Markovic-Plese S, Fischbeck KH. Taylor JP, et al. Among authors: fischbeck kh. Hum Mol Genet. 2003 Apr 1;12(7):749-57. doi: 10.1093/hmg/ddg074. Hum Mol Genet. 2003. PMID: 12651870

7

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: fischbeck kh. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.

8

A screen for drugs that protect against the cytotoxicity of polyglutamine-expanded androgen receptor.

Piccioni F, Roman BR, Fischbeck KH, Taylor JP. Piccioni F, et al. Among authors: fischbeck kh. Hum Mol Genet. 2004 Feb 15;13(4):437-46. doi: 10.1093/hmg/ddh045. Epub 2004 Jan 6. Hum Mol Genet. 2004. PMID: 14709594

9

Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting.

Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Verbeek DS, et al. Among authors: fischbeck kh. Brain. 2005 Feb;128(Pt 2):436-42. doi: 10.1093/brain/awh378. Epub 2004 Dec 23. Brain. 2005. PMID: 15618281

10

The role of histone acetylation in SMN gene expression.

Kernochan LE, Russo ML, Woodling NS, Huynh TN, Avila AM, Fischbeck KH, Sumner CJ. Kernochan LE, et al. Among authors: fischbeck kh. Hum Mol Genet. 2005 May 1;14(9):1171-82. doi: 10.1093/hmg/ddi130. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772088

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