Verbeek DS - Search Results

1

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.

van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ. van de Warrenburg BP, et al. Among authors: verbeek ds. Neurology. 2003 Dec 23;61(12):1760-5. doi: 10.1212/01.wnl.0000098883.79421.73. Neurology. 2003. PMID: 14694043

2

Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.

Verbeek DS, Schelhaas JH, Ippel EF, Beemer FA, Pearson PL, Sinke RJ. Verbeek DS, et al. Hum Genet. 2002 Oct;111(4-5):388-93. doi: 10.1007/s00439-002-0782-7. Epub 2002 Aug 30. Hum Genet. 2002. PMID: 12384780

3

SCA19 and SCA22: evidence for one locus with a worldwide distribution.

Schelhaas HJ, Verbeek DS, Van de Warrenburg BP, Sinke RJ. Schelhaas HJ, et al. Among authors: verbeek ds. Brain. 2004 Jan;127(Pt 1):E6; author reply E7. doi: 10.1093/brain/awh036. Brain. 2004. PMID: 14679032 Free article. No abstract available.

4

Haplotype study in Dutch SCA3 and SCA6 families: evidence for common founder mutations.

Verbeek DS, Piersma SJ, Hennekam EF, Ippel EF, Pearson PL, Sinke RJ. Verbeek DS, et al. Eur J Hum Genet. 2004 Jun;12(6):441-6. doi: 10.1038/sj.ejhg.5201167. Eur J Hum Genet. 2004. PMID: 15026782

5

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. Verbeek DS, et al. Brain. 2004 Nov;127(Pt 11):2551-7. doi: 10.1093/brain/awh276. Epub 2004 Aug 11. Brain. 2004. PMID: 15306549

6

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

7

PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.

Verbeek DS, Goedhart J, Bruinsma L, Sinke RJ, Reits EA. Verbeek DS, et al. J Cell Sci. 2008 Jul 15;121(Pt 14):2339-49. doi: 10.1242/jcs.027698. Epub 2008 Jun 24. J Cell Sci. 2008. PMID: 18577575

8

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.

9

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.

10

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

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