Citations for
1PDYN, SCA23
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS.
J Neurol 260(7):1807-12. doi: 10.1007/s00415-013-6882-6. Epub 2013 Mar 8. 2013
2PDYN, SCA23
The frequency of spinocerebellar ataxia type 23 in a UK population.
Fawcett K, Mehrabian M, Liu YT, Hamed S, Elahi E, Revesz T, Koutsis G, Herscheson J, Schottlaender L, Wardle M, Morrison PJ, Morris HR, Giunti P, Wood N, Houlden H.
J Neurol 260(3):856-9. doi: 10.1007/s00415-012-6721-1. Epub 2012 Oct 30. Erratum in: J Neurol. 2013 Mar;260(3):860. 2013
3PDYN, SCA23
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS.
Am J Hum Genet 87(5):593-603. Epub 2010 Oct 28. Erratum in: Am J Hum Genet. 2010 Nov 12;87(5):736. PMID: 21035104 2010
4SCA23
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ.
Brain 127(Pt 11):2551-7. Epub 2004 Aug 11. 2004