Smeets CJLM - Search Results

1

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: smeets cjlm. Brain. 2017 Nov 1;140(11):2860-2878. doi: 10.1093/brain/awx251. Brain. 2017. PMID: 29053796

2

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. Brain. 2015 Sep;138(Pt 9):2537-52. doi: 10.1093/brain/awv195. Epub 2015 Jul 12. Brain. 2015. PMID: 26169942

3

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

Smeets CJ, Verbeek DS. Smeets CJ, et al. 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.

4

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. 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.

5

Reply: SCA23 and prodynorphin: is it time for gene retraction?

Smeets CJ, Verbeek DS. Smeets CJ, et al. Brain. 2016 Aug;139(Pt 8):e43. doi: 10.1093/brain/aww094. Epub 2016 May 1. Brain. 2016. PMID: 27190014 No abstract available.

6

Cerebellar developmental deficits underlie neurodegenerative disorder spinocerebellar ataxia type 23.

Smeets CJLM, Ma KY, Fisher SE, Verbeek DS. Smeets CJLM, et al. Brain Pathol. 2021 Mar;31(2):239-252. doi: 10.1111/bpa.12905. Epub 2020 Nov 2. Brain Pathol. 2021. PMID: 33043513 Free PMC article.

7

Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration.

Smeets CJ, Verbeek DS. Smeets CJ, et al. Biochim Biophys Acta. 2014 Oct;1842(10):2030-2038. doi: 10.1016/j.bbadis.2014.04.004. Epub 2014 Apr 13. Biochim Biophys Acta. 2014. PMID: 24726947 Free article. Review.

8

Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.

Smeets CJ, Zmorzyńska J, Melo MN, Stargardt A, Dooley C, Bakalkin G, McLaughlin J, Sinke RJ, Marrink SJ, Reits E, Verbeek DS. Smeets CJ, et al. Hum Mol Genet. 2016 Jul 1;25(13):2728-2737. doi: 10.1093/hmg/ddw130. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260403

9

Differential effects of Wnt-β-catenin signaling in Purkinje cells and Bergmann glia in spinocerebellar ataxia type 1.

Luttik K, Tejwani L, Ju H, Driessen T, Smeets CJLM, Edamakanti CR, Khan A, Yun J, Opal P, Lim J. Luttik K, et al. Among authors: smeets cjlm. Proc Natl Acad Sci U S A. 2022 Aug 23;119(34):e2208513119. doi: 10.1073/pnas.2208513119. Epub 2022 Aug 15. Proc Natl Acad Sci U S A. 2022. PMID: 35969780 Free PMC article.

10

HDAC4-myogenin axis as an important marker of HD-related skeletal muscle atrophy.

Mielcarek M, Toczek M, Smeets CJ, Franklin SA, Bondulich MK, Jolinon N, Muller T, Ahmed M, Dick JR, Piotrowska I, Greensmith L, Smolenski RT, Bates GP. Mielcarek M, et al. PLoS Genet. 2015 Mar 6;11(3):e1005021. doi: 10.1371/journal.pgen.1005021. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25748626 Free PMC article.

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