Trinucleotide repeats and hereditary ataxias

1. Orr, H. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221−226 (1993). | ISI | ChemPort |
2. La Spada, A.R., Paulson, H.L. & Fischbeck, K.H. Trinucleotide expansion in neurological disease. Ann. Neural. 36, 814−822 (1994). | ChemPort |
3. Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221−227 (1994). | Article | PubMed  | ISI | ChemPort |
4. Pulst, S.-M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269−276 (1996). | Article | PubMed  | ISI | ChemPort |
5. Sanpei, K. et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277−284 (1996). | Article | PubMed  | ISI | ChemPort |
6. Imbert, G. et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14, 285−291 (1996). | Article | PubMed  | ISI | ChemPort |
7. Zhuchenko, O. et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the 1A voltage-dependent calcium channel. Nature Genet. 15, 62−69 (1997). | Article | PubMed  | ISI | ChemPort |
8. Klockgether, T., Kramer, B., Lüdtke, R., Schöls, L. & Laccone, F. Repeat length and disease progression in spinocerebellar ataxia type 3. Lancet 348, 830 (1996). | PubMed  | ChemPort |
9. Bürk, K. et al. Autosomal dominant cerebellar ataxia type I: Clinical features and magnetic resonance imaging in families with SCA1, SCA2 and SCA3. Brain 119, 1497−1505 (1996). | PubMed  | ISI |
10. Ikeda, H. et al. Expanded polyglutamine in the Machado-Joseph disease protein induces Cell death in vitro and in vivo. Nature Genet. 13, 196−202 (1996). | Article | PubMed  | ISI | ChemPort |
11. Ophoff, R.A. et al. Familial hemiplegic migraine and episodic ataxia type 2 are caused by mutations in the Ca²⁺ channel gene CACNL1A4. Cell 87, 543−552 (1996). | Article | PubMed  | ISI | ChemPort |
12. Campuzano, V. et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423−1421 (1996) | PubMed  | ISI | ChemPort |
13. Dürr, A. et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. I. Med. 335, 1169−1175 (1996). | Article | ISI |
14. Filla, A. et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich's ataxia. Am J. Hum. Genet. 59, 554−560 (1996). | PubMed  | ISI | ChemPort |
15. Carvajal, J.J. et al. The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase. Nature Genet. 14, 157−162 (1996). | PubMed  | ISI | ChemPort |
16. Klockgether, T. et al. Late-onset Friedreich's ataxia. Molecular genetics, clinical neurophysiology and magnetic resonance imaging. Arch. Neural. 50, 803−806 (1993). | ChemPort |

	Top

	Top