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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. Bakalkin G, et al. Among authors: verbeek ds. Am J Hum Genet. 2010 Nov 12;87(5):593-603. doi: 10.1016/j.ajhg.2010.10.001. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035104 Free PMC article.
Genetics of the dominant ataxias.
Verbeek DS, van de Warrenburg BP. Verbeek DS, et al. Semin Neurol. 2011 Nov;31(5):461-9. doi: 10.1055/s-0031-1299785. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266884 Review.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: verbeek ds. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
67 results