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Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Ghorbani F, de Boer-Bergsma J, Verschuuren-Bemelmans CC, Pennings M, de Boer EN, Kremer B, Vanhoutte EK, de Vries JJ, van de Berg R, Kamsteeg EJ, van Diemen CC, Westers H, van de Warrenburg BP, Verbeek DS. Ghorbani F, et al. Among authors: verbeek ds. J Neurol. 2022 Nov;269(11):6086-6093. doi: 10.1007/s00415-022-11275-9. Epub 2022 Jul 21. J Neurol. 2022. PMID: 35864213 Free PMC article.
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ. Verbeek DS, et al. Hum Genet. 2005 Jun;117(1):88-91. doi: 10.1007/s00439-005-1278-z. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841389
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
Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
Duarri A, Nibbeling EA, Fokkens MR, Meijer M, Boerrigter M, Verschuuren-Bemelmans CC, Kremer BP, van de Warrenburg BP, Dooijes D, Boddeke E, Sinke RJ, Verbeek DS. Duarri A, et al. Among authors: verbeek ds. PLoS One. 2015 Mar 10;10(3):e0116599. doi: 10.1371/journal.pone.0116599. eCollection 2015. PLoS One. 2015. PMID: 25756792 Free PMC article.
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