| 1 | PDYN, SCA23
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| Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
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| 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.
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| J Neurol 260(7):1807-12. doi: 10.1007/s00415-013-6882-6. Epub 2013 Mar 8.
2013
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| 2 | PDYN, SCA23
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| The frequency of spinocerebellar ataxia type 23 in a UK population.
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| 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.
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| 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
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| 3 | PDYN, SCA23
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| Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
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| 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.
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| 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
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| 4 | SCA23
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| Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
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| Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ.
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| Brain 127(Pt 11):2551-7. Epub 2004 Aug 11. 2004
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