Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias - PubMed (original) (raw)

EMQN Best Practice Guidelines for molecular genetic testing of SCAs.

Sequeiros J, Martindale J, Seneca S, Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network. Sequeiros J, et al. Eur J Hum Genet. 2010 Nov;18(11):1173-6. doi: 10.1038/ejhg.2010.8. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179742 Free PMC article.