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Items: 1 to 20 of 27

1.

Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.

Wang J, Shen L, Lei L, Xu Q, Zhou J, Liu Y, Guan W, Pan Q, Xia K, Tang B, Jiang H.

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2011 Jun;36(6):482-9. doi: 10.3969/j.issn.1672-7347.2011.06.003.

2.

Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12).

Wang YC, Lee CM, Lee LC, Tung LC, Hsieh-Li HM, Lee-Chen GJ, Su MT.

J Biol Chem. 2011 Jun 17;286(24):21742-54. doi: 10.1074/jbc.M110.160697. Epub 2011 Apr 6.

3.

Mapping of autosomal dominant cerebellar ataxia without the pathogenic PPP2R2B mutation to the locus for spinocerebellar ataxia 12.

Sato K, Yabe I, Fukuda Y, Soma H, Nakahara Y, Tsuji S, Sasaki H.

Arch Neurol. 2010 Oct;67(10):1257-62. doi: 10.1001/archneurol.2010.231.

PMID:
20937954
4.

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia.

Brussino A, Graziano C, Giobbe D, Ferrone M, Dragone E, Arduino C, Lodi R, Tonon C, Gabellini A, Rinaldi R, Miccoli S, Grosso E, Bellati MC, Orsi L, Migone N, Brusco A.

Mov Disord. 2010 Jul 15;25(9):1269-73. doi: 10.1002/mds.22835.

PMID:
20629122
5.

The occurrence of spinocerebellar ataxias caused by dynamic mutations in Polish patients.

Sułek-Piatkowska A, Zdzienicka E, Raczyńska-Rakowicz M, Krysa W, Rajkiewicz M, Szirkowiec W, Zaremba J.

Neurol Neurochir Pol. 2010 May-Jun;44(3):238-45.

PMID:
20625959
6.

The CAG repeat in SCA12 functions as a cis element to up-regulate PPP2R2B expression.

Lin CH, Chen CM, Hou YT, Wu YR, Hsieh-Li HM, Su MT, Lee-Chen GJ.

Hum Genet. 2010 Aug;128(2):205-12. doi: 10.1007/s00439-010-0843-2. Epub 2010 Jun 9.

PMID:
20533062
7.

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P.

Eur J Neurol. 2010 Jan;17(1):124-8. doi: 10.1111/j.1468-1331.2009.02757.x. Epub 2009 Jul 29.

PMID:
19659750
8.

The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission.

Dagda RK, Merrill RA, Cribbs JT, Chen Y, Hell JW, Usachev YM, Strack S.

J Biol Chem. 2008 Dec 26;283(52):36241-8. doi: 10.1074/jbc.M800989200. Epub 2008 Oct 21.

9.

Evidence of a common founder for SCA12 in the Indian population.

Bahl S, Virdi K, Mittal U, Sachdeva MP, Kalla AK, Holmes SE, O'Hearn E, Margolis RL, Jain S, Srivastava AK, Mukerji M.

Ann Hum Genet. 2005 Sep;69(Pt 5):528-34.

10.

Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.

Jiang H, Tang B, Xia K, Zhou Y, Xu B, Zhao G, Li H, Shen L, Pan Q, Cai F.

J Neurol Sci. 2005 Sep 15;236(1-2):25-9.

PMID:
15979648
11.

[Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias].

Xie QY, Liang XL, Li XH.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Feb;22(1):71-3. Chinese.

PMID:
15696485
12.

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.

Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F.

Arch Neurol. 2004 May;61(5):727-33.

PMID:
15148151
13.

Coincidence of a large SCA12 repeat allele with a case of Creutzfeld-Jacob disease.

Hellenbroich Y, Schulz-Schaeffer W, Nitschke MF, Köhnke J, Händler G, Bürk K, Schwinger E, Zühlke C.

J Neurol Neurosurg Psychiatry. 2004 Jun;75(6):937-8. No abstract available.

14.

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Tsai HF, Liu CS, Leu TM, Wen FC, Lin SJ, Liu CC, Yang DK, Li C, Hsieh M.

Acta Neurol Scand. 2004 May;109(5):355-60.

PMID:
15080863
15.

Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India.

Sinha KK, Worth PF, Jha DK, Sinha S, Stinton VJ, Davis MB, Wood NW, Sweeney MG, Bhatia KP.

J Neurol Neurosurg Psychiatry. 2004 Mar;75(3):448-52.

16.

Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group.

Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M, Szirkowiec W, Zaremba J.

J Appl Genet. 2004;45(1):101-5.

PMID:
14960773
17.

Phosphatases in apoptosis: to be or not to be, PP2A is in the heart of the question.

Van Hoof C, Goris J.

Biochim Biophys Acta. 2003 May 12;1640(2-3):97-104. Review.

18.
19.

CAG repeat polymorphisms in KCNN3 (HSKCa3) and PPP2R2B show no association or linkage to schizophrenia.

Laurent C, Niehaus D, Bauché S, Levinson DF, Soubigou S, Pimstone S, Hayden M, Mbanga I, Emsley R, Deleuze JF, Mallet J.

Am J Med Genet B Neuropsychiatr Genet. 2003 Jan 1;116B(1):45-50.

PMID:
12497613
20.

A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].

van Swieten JC, Brusse E, de Graaf BM, Krieger E, van de Graaf R, de Koning I, Maat-Kievit A, Leegwater P, Dooijes D, Oostra BA, Heutink P.

Am J Hum Genet. 2003 Jan;72(1):191-9. Epub 2002 Dec 13. Erratum in: Am J Hum Genet. 2003 Apr;72(4):1078.

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