Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset
Author:
Publisher
Oxford University Press (OUP)
Subject
Neurology (clinical)
Link
http://academic.oup.com/brain/article-pdf/128/10/2297/768839/awh586.pdf
Reference29 articles.
1. Adachi H, Katsuno M, Minamiyama M, Waza M, Sang C, Nakagomi Y, et al. Widespread nuclear and cytoplasmic accumulation of mutant androgen receptor in SBMA patients. Brain2005; 128: 659–70.
2. Cancel G, Dűrr A, Didierjean O, Imbert G, Burk K, Lezin A, et al. Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families. Hum Mol Genet1997; 6: 709–15.
3. Chen S, Ferrone FA, Wetzel R. Huntington's disease age-of-onset linked to polyglutamine aggregation nucleation. Proc Natl Acad Sci USA2002; 99: 11884–9.
4. Djoussé L, Knowlton B, Hayden M, Almqvist EW, Brinkman R, Ross C, et al. Interaction of normal and expanded CAG repeat sizes influence age at onset of Huntington disease. Am J Med Genet2003; 119A: 279–82.
5. Fletcher CF, Tottene A, Lennon VA, Wislon SM, Dubel SJ, Paylor R, et al. Dystonia and cerebellar atrophy in Cacna1a null mice lacking P/Q calcium channel activity. FASEB J2001; 15: 1288–90.
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