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Results: 1 to 20 of 90

Related Citations for PubMed (Select 22564351)

1.

Oxidative stress as a cofactor in spinocerebellar ataxia type 2.

Guevara-García M, Gil-del Valle L, Velásquez-Pérez L, García-Rodríguez JC.

Redox Rep. 2012;17(2):84-9. doi: 10.1179/1351000212Y.0000000005. Review.

PMID:
22564351
2.

A comprehensive review of spinocerebellar ataxia type 2 in Cuba.

Velázquez-Pérez L, Rodríguez-Labrada R, García-Rodríguez JC, Almaguer-Mederos LE, Cruz-Mariño T, Laffita-Mesa JM.

Cerebellum. 2011 Jun;10(2):184-98. doi: 10.1007/s12311-011-0265-2. Review.

PMID:
21399888
3.

Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2.

Simon DK, Zheng K, Velázquez L, Santos N, Almaguer L, Figueroa KP, Pulst SM.

Arch Neurol. 2007 Jul;64(7):1042-4.

PMID:
17620498
4.
5.

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.

Laffita-Mesa JM, Velázquez-Pérez LC, Santos Falcón N, Cruz-Mariño T, González Zaldívar Y, Vázquez Mojena Y, Almaguer-Gotay D, Almaguer Mederos LE, Rodríguez Labrada R.

Eur J Hum Genet. 2012 Jan;20(1):41-9. doi: 10.1038/ejhg.2011.154. Epub 2011 Sep 21.

6.

Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin.

Velázquez Pérez L, Cruz GS, Santos Falcón N, Enrique Almaguer Mederos L, Escalona Batallan K, Rodríguez Labrada R, Paneque Herrera M, Laffita Mesa JM, Rodríguez Díaz JC, Rodríguez RA, González Zaldivar Y, Coello Almarales D, Almaguer Gotay D, Jorge Cedeño H.

Neurosci Lett. 2009 Apr 24;454(2):157-60. doi: 10.1016/j.neulet.2009.03.015. Epub 2009 Mar 11.

PMID:
19429075
7.

Estimation of survival in spinocerebellar ataxia type 2 Cuban patients.

Almaguer-Mederos LE, Aguilera Rodríguez R, González Zaldivar Y, Almaguer Gotay D, Cuello Almarales D, Laffita Mesa J, Vázquez Mojena Y, Zayas Feria P, Auburger G, Gispert S, Velásquez Pérez L.

Clin Genet. 2013 Mar;83(3):293-4. doi: 10.1111/j.1399-0004.2012.01902.x. Epub 2012 Jul 3. No abstract available.

PMID:
22758789
8.

Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.

Magaña JJ, Velázquez-Pérez L, Cisneros B.

Mol Neurobiol. 2013 Feb;47(1):90-104. doi: 10.1007/s12035-012-8348-8. Epub 2012 Sep 21. Review.

PMID:
22996397
9.

Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature.

Laffita-Mesa JM, Almaguer-Mederos LE, Kourí V, Bauer PO, Vázquez-Mojena Y, Cruz Mariño T, Velázquez-Pérez L.

Clin Genet. 2014 Jul;86(1):96-8. doi: 10.1111/cge.12221. Epub 2013 Jul 19. No abstract available.

PMID:
23865735
10.

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.

Sánchez I, Piñol P, Corral-Juan M, Pandolfo M, Matilla-Dueñas A.

Hum Mol Genet. 2013 Sep 1;22(17):3425-37. doi: 10.1093/hmg/ddt197. Epub 2013 Apr 29.

11.

[Hereditary ataxias in Cuba. Historical, epidemiological, clinical, electrophysiological and quantitative neurological features].

Velázquez-Pérez L, García R, Santos FN, Paneque HM, Medina HE, Hechavarría PR.

Rev Neurol. 2001 Jan 1-15;32(1):71-6. Spanish.

PMID:
11293106
12.

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.

13.

Association between proton magnetic resonance spectroscopy measurements and CAG repeat number in patients with spinocerebellar ataxias 2, 3, or 6.

Wang PS, Chen HC, Wu HM, Lirng JF, Wu YT, Soong BW.

PLoS One. 2012;7(10):e47479. doi: 10.1371/journal.pone.0047479. Epub 2012 Oct 11.

14.

Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset.

Pulst SM, Santos N, Wang D, Yang H, Huynh D, Velazquez L, Figueroa KP.

Brain. 2005 Oct;128(Pt 10):2297-303. Epub 2005 Jul 6.

15.

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
16.

Neuronal intranuclear inclusions in spinocerebellar ataxia type 2: triple-labeling immunofluorescent study.

Koyano S, Uchihara T, Fujigasaki H, Nakamura A, Yagishita S, Iwabuchi K.

Neurosci Lett. 1999 Oct 1;273(2):117-20.

PMID:
10505630
17.
18.

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ.

Mov Disord. 2004 Jun;19(6):622-9. Review.

PMID:
15197699
19.

Luis Velázquez-Pérez: helping to put SCA2 in the spotlight.

Holmes D.

Lancet Neurol. 2014 May;13(5):449. doi: 10.1016/S1474-4422(14)70080-8. No abstract available.

PMID:
24739243
20.

Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?

Bauer PO, Zumrova A, Matoska V, Mitsui K, Goetz P.

Med Hypotheses. 2004;63(6):1018-23.

PMID:
15504570
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