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Results: 15

1.

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis.

Crespo-Barreto J, Fryer JD, Shaw CA, Orr HT, Zoghbi HY.

PLoS Genet. 2010 Jul 8;6(7):e1001021. doi: 10.1371/journal.pgen.1001021.

PMID:
20628574
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Progress in pathogenesis studies of spinocerebellar ataxia type 1.

Cummings CJ, Orr HT, Zoghbi HY.

Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1079-81. Review.

PMID:
10434309
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.

Zoghbi HY, Orr HT.

J Biol Chem. 2009 Mar 20;284(12):7425-9. doi: 10.1074/jbc.R800041200. Epub 2008 Oct 28. Review.

PMID:
18957430
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis.

Orr HT.

Prog Neurobiol. 2012 Dec;99(3):179-85. doi: 10.1016/j.pneurobio.2012.04.003. Epub 2012 Apr 16. Review.

PMID:
22531670
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Clinical, genetic, molecular, and pathophysiological insights into spinocerebellar ataxia type 1.

Matilla-Dueñas A, Goold R, Giunti P.

Cerebellum. 2008;7(2):106-14. doi: 10.1007/s12311-008-0009-0. Review.

PMID:
18418661
[PubMed - indexed for MEDLINE]
6.

Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice.

Clark HB, Orr HT.

J Neuropathol Exp Neurol. 2000 Apr;59(4):265-70. Review.

PMID:
10759181
[PubMed - indexed for MEDLINE]
7.

Spinocerebellar ataxia type 1.

Donato SD, Mariotti C, Taroni F.

Handb Clin Neurol. 2012;103:399-421. doi: 10.1016/B978-0-444-51892-7.00025-5. Review.

PMID:
21827903
[PubMed - indexed for MEDLINE]
8.

The ins and outs of a polyglutamine neurodegenerative disease: spinocerebellar ataxia type 1 (SCA1).

Orr HT.

Neurobiol Dis. 2000 Jun;7(3):129-34. Review.

PMID:
10860780
[PubMed - indexed for MEDLINE]
9.

Cell biology of spinocerebellar ataxia.

Orr HT.

J Cell Biol. 2012 Apr 16;197(2):167-77. doi: 10.1083/jcb.201105092. Review.

PMID:
22508507
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Molecular pathogenesis of spinocerebellar ataxia type 1 disease.

Kang S, Hong S.

Mol Cells. 2009 Jun 30;27(6):621-7. doi: 10.1007/s10059-009-0095-y. Epub 2009 Jun 22. Review.

PMID:
19572115
[PubMed - indexed for MEDLINE]
Free Article
11.

SCA1 molecular genetics: a history of a 13 year collaboration against glutamines.

Orr HT, Zoghbi HY.

Hum Mol Genet. 2001 Oct 1;10(20):2307-11. Review.

PMID:
11673415
[PubMed - indexed for MEDLINE]
Free Article
12.

Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.

Rüb U, Schöls L, Paulson H, Auburger G, Kermer P, Jen JC, Seidel K, Korf HW, Deller T.

Prog Neurobiol. 2013 May;104:38-66. doi: 10.1016/j.pneurobio.2013.01.001. Epub 2013 Feb 21. Review.

PMID:
23438480
[PubMed - indexed for MEDLINE]
13.

Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.

Garden GA, La Spada AR.

Cerebellum. 2008;7(2):138-49. doi: 10.1007/s12311-008-0027-y. Review.

PMID:
18418675
[PubMed - indexed for MEDLINE]
14.

14-3-3 proteins and spinocerebellar ataxia type 1: from molecular interaction to human neuropathology.

Umahara T, Uchihara T.

Cerebellum. 2010 Jun;9(2):183-9. doi: 10.1007/s12311-010-0158-9. Review.

PMID:
20155408
[PubMed - indexed for MEDLINE]
15.

Spinocerebellar ataxia type 1.

Zoghbi HY.

Clin Neurosci. 1995;3(1):5-11. Review.

PMID:
7614095
[PubMed - indexed for MEDLINE]

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