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Items: 1 to 20 of 66

1.

Ethical and policy issues in genetic testing and screening of children.

COMMITTEE ON BIOETHICS; COMMITTEE ON GENETICS, AND; AMERICAN COLLEGE OF MEDICAL GENETICS AND; GENOMICS SOCIAL; ETHICAL; LEGAL ISSUES COMMITTEE.

Pediatrics. 2013 Mar;131(3):620-2. doi: 10.1542/peds.2012-3680. Epub 2013 Feb 21.

2.

Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.

Furrer SA, Waldherr SM, Mohanachandran MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA, La Spada AR.

Hum Mol Genet. 2013 Mar 1;22(5):890-903. doi: 10.1093/hmg/dds495. Epub 2012 Nov 29.

3.

Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model.

Ajayi A, Yu X, Lindberg S, Langel U, Ström AL.

BMC Neurosci. 2012 Jul 24;13:86. doi: 10.1186/1471-2202-13-86.

4.

Brain pathology of spinocerebellar ataxias.

Seidel K, Siswanto S, Brunt ER, den Dunnen W, Korf HW, Rüb U.

Acta Neuropathol. 2012 Jul;124(1):1-21. doi: 10.1007/s00401-012-1000-x. Epub 2012 Jun 9. Review.

PMID:
22684686
5.

Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.

Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, La Spada AR, Okazawa H.

Hum Mol Genet. 2012 Mar 1;21(5):1099-110. doi: 10.1093/hmg/ddr539. Epub 2011 Nov 18.

6.

Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.

Furrer SA, Mohanachandran MS, Waldherr SM, Chang C, Damian VA, Sopher BL, Garden GA, La Spada AR.

J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.

7.

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.

Chen YC, Gatchel JR, Lewis RW, Mao CA, Grant PA, Zoghbi HY, Dent SY.

Hum Mol Genet. 2012 Jan 15;21(2):394-405. doi: 10.1093/hmg/ddr474. Epub 2011 Oct 14.

8.

CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.

Sopher BL, Ladd PD, Pineda VV, Libby RT, Sunkin SM, Hurley JB, Thienes CP, Gaasterland T, Filippova GN, La Spada AR.

Neuron. 2011 Jun 23;70(6):1071-84. doi: 10.1016/j.neuron.2011.05.027.

9.

Clinical and genetic study of spinocerebellar ataxia type 7 in East Asian population.

Han Y, Yu L, Zheng HM, Guan YT.

Chin Med J (Engl). 2010 Aug;123(16):2274-8.

10.

Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7.

Han Y, Deng B, Liu M, Jiang J, Wu S, Guan Y.

Neurol India. 2010 Jul-Aug;58(4):622-6. doi: 10.4103/0028-3886.68674.

11.

A preliminary characterisation of cognition and social cognition in spinocerebellar ataxia types 2, 1, and 7.

Sokolovsky N, Cook A, Hunt H, Giunti P, Cipolotti L.

Behav Neurol. 2010;23(1-2):17-29. doi: 10.3233/BEN-2010-0270. Erratum in: Behav Neurol. 2010;23(3):159.

12.

Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment.

Mookerjee S, Papanikolaou T, Guyenet SJ, Sampath V, Lin A, Vitelli C, DeGiacomo F, Sopher BL, Chen SF, La Spada AR, Ellerby LM.

J Neurosci. 2009 Dec 2;29(48):15134-44. doi: 10.1523/JNEUROSCI.4720-09.2009.

13.

SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.

Janer A, Werner A, Takahashi-Fujigasaki J, Daret A, Fujigasaki H, Takada K, Duyckaerts C, Brice A, Dejean A, Sittler A.

Hum Mol Genet. 2010 Jan 1;19(1):181-95. doi: 10.1093/hmg/ddp478. Epub .

14.

Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype.

Scholefield J, Greenberg LJ, Weinberg MS, Arbuthnot PB, Abdelgany A, Wood MJ.

PLoS One. 2009 Sep 30;4(9):e7232. doi: 10.1371/journal.pone.0007232.

15.

Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings.

Thurtell MJ, Fraser JA, Bala E, Tomsak RL, Biousse V, Leigh RJ, Newman NJ.

J Neuroophthalmol. 2009 Sep;29(3):187-91. doi: 10.1097/WNO.0b013e3181b41764.

16.

Neuro-ophthalmologic features of spinocerebellar ataxia type 7.

Miller RC, Tewari A, Miller JA, Garbern J, Van Stavern GP.

J Neuroophthalmol. 2009 Sep;29(3):180-6. doi: 10.1097/WNO.0b013e3181b1b3f8.

PMID:
19726938
17.

Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7).

Hugosson T, Gränse L, Ponjavic V, Andréasson S.

Ophthalmic Genet. 2009 Mar;30(1):1-6. doi: 10.1080/13816810802454081.

PMID:
19172503
18.

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.

19.

Spinocerebellar ataxia type 7 (SCA7): widespread brain damage in an adult-onset patient with progressive visual impairments in comparison with an adult-onset patient without visual impairments.

Rüb U, Brunt ER, Seidel K, Gierga K, Mooy CM, Kettner M, Van Broeckhoven C, Bechmann I, La Spada AR, Schöls L, den Dunnen W, de Vos RA, Deller T.

Neuropathol Appl Neurobiol. 2008 Apr;34(2):155-68. Epub 2007 Oct 26.

PMID:
17971076
20.

Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport.

Custer SK, Garden GA, Gill N, Rueb U, Libby RT, Schultz C, Guyenet SJ, Deller T, Westrum LE, Sopher BL, La Spada AR.

Nat Neurosci. 2006 Oct;9(10):1302-11. Epub 2006 Aug 27.

PMID:
16936724
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