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Items: 1 to 20 of 113

1.

Quantitative profiling and identification of plasma proteins of spinocerebellar ataxia type 2 patients.

Swarup V, Srivastava AK, Padma MV, Moganty RR.

Neurodegener Dis. 2013;12(4):199-206. doi: 10.1159/000346585. Epub 2013 May 31.

PMID:
23735416
2.

Identification and quantification of differentially expressed proteins in plasma of spinocerebellar ataxia type 12.

Swarup V, Srivastava AK, Rajeswari MR.

Neurosci Res. 2012 Jun;73(2):161-7. doi: 10.1016/j.neures.2012.03.002. Epub 2012 Mar 16.

PMID:
22426495
3.

Quantitative profiling and identification of differentially expressed plasma proteins in Friedreich's ataxia.

Swarup V, Srivastava AK, Padma MV, Rajeswari MR.

J Neurosci Res. 2013 Nov;91(11):1483-91. doi: 10.1002/jnr.23262. Epub 2013 Aug 30.

PMID:
23996585
4.

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.

PMID:
16000334
5.

Identification of five spinocerebellar ataxia type 2 pedigrees in patients with autosomal dominant cerebellar ataxia in Taiwan.

Hsieh M, Li SY, Tsai CJ, Chen YY, Liu CS, Chang CY, Ro LS, Chen DF, Chen SS, Li C.

Acta Neurol Scand. 1999 Sep;100(3):189-94.

PMID:
10478584
6.

SCA2 trinucleotide expansion in German SCA patients.

Riess O, Laccone FA, Gispert S, Schöls L, Zühlke C, Vieira-Saecker AM, Herlt S, Wessel K, Epplen JT, Weber BH, Kreuz F, Chahrokh-Zadeh S, Meindl A, Lunkes A, Aguiar J, Macek M Jr, Krebsová A, Macek M Sr, Bürk K, Tinschert S, Schreyer I, Pulst SM, Auburger G.

Neurogenetics. 1997 May;1(1):59-64.

PMID:
10735276
7.

[Molecular analysis of the CAG repeat among patients with Type-2 spinocerebellar ataxia in the Mexican population].

Magaña JJ, Vergara MD, Sierra-Martínez M, García-Jiménez E, Rodríguez-Antonio F, Gómez Mdel R, Valdés-Flores M, Cisneros B.

Gac Med Mex. 2008 Sep-Oct;144(5):413-8. Spanish.

PMID:
19043961
8.

[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han].

Wang J, Xu Q, Lei L, Shen L, Jiang H, Li X, Zhou Y, Yi J, Zhou J, Yan X, Pan Q, Xia K, Tang B.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):620-5. doi: 10.3760/cma.j.issn.1003-9406.2009.06.004. Chinese.

PMID:
19953482
9.

The parkinsonian phenotype of spinocerebellar ataxia type 2.

Lu CS, Wu Chou YH, Kuo PC, Chang HC, Weng YH.

Arch Neurol. 2004 Jan;61(1):35-8.

PMID:
14732617
10.

Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study.

Velázquez-Pérez L, Rodríguez-Labrada R, Canales-Ochoa N, Montero JM, Sánchez-Cruz G, Aguilera-Rodríguez R, Almaguer-Mederos LE, Laffita-Mesa JM.

Lancet Neurol. 2014 May;13(5):482-9. doi: 10.1016/S1474-4422(14)70027-4. Epub 2014 Mar 20.

PMID:
24657153
11.

Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: evidence from antisaccadic eye movements.

Rodríguez-Labrada R, Velázquez-Pérez L, Aguilera-Rodríguez R, Seifried-Oberschmidt C, Peña-Acosta A, Canales-Ochoa N, Medrano-Montero J, Estupiñan-Rodríguez A, Vázquez-Mojena Y, González-Zaldivar Y, Laffita Mesa JM.

Brain Cogn. 2014 Nov;91:28-34. doi: 10.1016/j.bandc.2014.07.007. Epub 2014 Sep 3.

PMID:
25189938
12.

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17.

Oda M, Maruyama H, Komure O, Morino H, Terasawa H, Izumi Y, Imamura T, Yasuda M, Ichikawa K, Ogawa M, Matsumoto M, Kawakami H.

Arch Neurol. 2004 Feb;61(2):209-12.

PMID:
14967767
13.

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
14.

Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis.

Mutesa L, Pierquin G, Segers K, Vanbellinghen JF, Gahimbare L, Bours V.

J Trop Pediatr. 2008 Oct;54(5):350-2. doi: 10.1093/tropej/fmn034. Epub 2008 May 22.

15.

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).

Hayes S, Turecki G, Brisebois K, Lopes-Cendes I, Gaspar C, Riess O, Ranum LP, Pulst SM, Rouleau GA.

Hum Mol Genet. 2000 Jul 22;9(12):1753-8.

PMID:
10915763
16.

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F.

Am J Med Genet A. 2004 Feb 1;124A(4):392-6.

PMID:
14735588
17.
18.

Involvement of the cholinergic basal forebrain nuclei in spinocerebellar ataxia type 2 (SCA2).

Rüb U, Farrag K, Seidel K, Brunt ER, Heinsen H, Bürk K, Melegh B, von Gall C, Auburger G, Bohl J, Korf HW, Hoche F, den Dunnen W.

Neuropathol Appl Neurobiol. 2013 Oct;39(6):634-43. doi: 10.1111/nan.12025.

PMID:
23363055
19.

[Copy number variation of trinucleotide repeat in dynamic mutation sites of autosomal dominant cerebellar ataxias related genes].

Chen P, Ma M, Shang H, Su D, Zhang S, Yang Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):626-33. doi: 10.3760/cma.j.issn.1003-9406.2009.06.005. Chinese.

PMID:
19953483
20.

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

Silveira I, Coutinho P, Maciel P, Gaspar C, Hayes S, Dias A, Guimarães J, Loureiro L, Sequeiros J, Rouleau GA.

Am J Med Genet. 1998 Mar 28;81(2):134-8.

PMID:
9613852

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