Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort-Reference-Cited by-同舟云学术

Genetic characterization of Spinocerebellar ataxia 1 in a South Indian cohort

Published:2014-10-25 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Kumaran Dhanya,Balagopal Krishnan,Tharmaraj Reginald George Alex,Aaron Sanjith,George Kuryan,Muliyil Jayaprakash,Sivadasan Ajith,Danda Sumita,Alexander Mathew,Hasan Gaiti

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0114-5/fulltext.html

Reference34 articles.

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2. Banfi S, Servadio A, Chung MY, Kwiatkowski TJ, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY: Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet. 1994, 7: 513-520. 10.1038/ng0894-513.

3. Quan F, Janas J, Popovich BW: A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet. 1995, 4: 2411-2413. 10.1093/hmg/4.12.2411.

4. Avila-Figueroa A, Cattie D, Delaney S: A small unstructured nucleic acid disrupts a trinucleotide repeat hairpin. Biochem Biophys Res Commun. 2011, 413: 532-536. 10.1016/j.bbrc.2011.08.130.

5. Menon RP, Nethisinghe S, Faggiano S, Vannocci T, Rezaei H, Pemble S, Sweeney MG, Wood NW, Davis MB, Pastore A, Giunti P: The role of interruptions in polyQ in the pathology of SCA1. PLoS Genet. 2013, 9: e1003648-10.1371/journal.pgen.1003648.

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