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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. Among authors: sinke rj. 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
Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families.
Sinke RJ, Ippel EF, Diepstraten CM, Beemer FA, Wokke JH, van Hilten BJ, Knoers NV, van Amstel HK, Kremer HP. Sinke RJ, et al. Arch Neurol. 2001 Nov;58(11):1839-44. doi: 10.1001/archneur.58.11.1839. Arch Neurol. 2001. PMID: 11708993
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. Among authors: sinke rj. Eur J Hum Genet. 2004 Jun;12(6):441-6. doi: 10.1038/sj.ejhg.5201167. Eur J Hum Genet. 2004. PMID: 15026782
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. Among authors: sinke rj. Brain. 2004 Nov;127(Pt 11):2551-7. doi: 10.1093/brain/awh276. Epub 2004 Aug 11. Brain. 2004. PMID: 15306549
Recent advances in hereditary spinocerebellar ataxias.
van de Warrenburg BP, Sinke RJ, Kremer B. van de Warrenburg BP, et al. Among authors: sinke rj. J Neuropathol Exp Neurol. 2005 Mar;64(3):171-80. doi: 10.1093/jnen/64.3.171. J Neuropathol Exp Neurol. 2005. PMID: 15804048 Review.
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. Among authors: sinke rj. 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: sinke rj. 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.
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, K├╝sters 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: sinke rj. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS. Duarri A, et al. Among authors: sinke rj. Cell Mol Life Sci. 2015 Sep;72(17):3387-99. doi: 10.1007/s00018-015-1894-2. Epub 2015 Apr 9. Cell Mol Life Sci. 2015. PMID: 25854634 Free PMC article.
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