Verbeek DS - Search Results

1

Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration.

van der Stijl R, Withoff S, Verbeek DS. van der Stijl R, et al. Among authors: verbeek ds. Neurobiol Dis. 2017 Dec;108:148-158. doi: 10.1016/j.nbd.2017.08.003. Epub 2017 Aug 18. Neurobiol Dis. 2017. PMID: 28823930 Review.

2

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

3

Spinocerebellar ataxia type 23: a genetic update.

Verbeek DS. Verbeek DS. Cerebellum. 2009 Jun;8(2):104-7. doi: 10.1007/s12311-008-0085-1. Epub 2008 Dec 17. Cerebellum. 2009. PMID: 19089525 Free PMC article.

4

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.

5

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

6

The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.

Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS. Duarri A, et al. Among authors: verbeek ds. Neurogenetics. 2013 Nov;14(3-4):257-8. doi: 10.1007/s10048-013-0370-0. Epub 2013 Aug 21. Neurogenetics. 2013. PMID: 23963749 No abstract available.

7

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: verbeek ds. 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.

8

Elevated mutant dynorphin A causes Purkinje cell loss and motor dysfunction in spinocerebellar ataxia type 23.

Smeets CJ, Jezierska J, Watanabe H, Duarri A, Fokkens MR, Meijer M, Zhou Q, Yakovleva T, Boddeke E, den Dunnen W, van Deursen J, Bakalkin G, Kampinga HH, van de Sluis B, Verbeek DS. Smeets CJ, et al. Among authors: verbeek ds. Brain. 2015 Sep;138(Pt 9):2537-52. doi: 10.1093/brain/awv195. Epub 2015 Jul 12. Brain. 2015. PMID: 26169942

9

Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control.

Smeets CJ, Verbeek DS. Smeets CJ, et al. Among authors: verbeek ds. Neurobiol Dis. 2016 Apr;88:96-106. doi: 10.1016/j.nbd.2016.01.009. Epub 2016 Jan 12. Neurobiol Dis. 2016. PMID: 26792399 Review.

10

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.

Nibbeling EAR, Duarri A, Verschuuren-Bemelmans CC, Fokkens MR, Karjalainen JM, Smeets CJLM, de Boer-Bergsma JJ, van der Vries G, Dooijes D, Bampi GB, van Diemen C, Brunt E, Ippel E, Kremer B, Vlak M, Adir N, Wijmenga C, van de Warrenburg BPC, Franke L, Sinke RJ, Verbeek DS. Nibbeling EAR, et al. Among authors: verbeek ds. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796

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