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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Published in:
2017
By:
- Nibbeling, Esther A. R.;
- Duarri, Anna;
- Verschuuren-Bemelmans, Corien C.;
- Fokkens, Michiel R.;
- Karjalainen, Juha M.;
- Smeets, Cleo J. L. M.;
- de Boer-Bergsma, Jelkje J.;
- van der Vries, Gerben;
- Dooijes, Dennis;
- Bampi, Giovana B.;
- Diemen, Cleo van;
- Brunt, Ewout;
- Ippel, Elly;
- Kremer, Berry;
- Vlak, Monique;
- Adir, Noam;
- Wijmenga, Cisca;
- van de Warrenburg, Bart P. C.;
- Franke, Lude;
- Sinke, Richard J.
Publication type:
journal article
Transcriptional heterogeneity between primary adult grey and white matter astrocytes underlie differences in modulation of in vitro myelination.
Published in:
2020
By:
- Werkman, Inge L.;
- Dubbelaar, Marissa L.;
- van der Vlies, Pieter;
- de Boer-Bergsma, Jelkje J.;
- Eggen, Bart J. L.;
- Baron, Wia
Publication type:
journal article
Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.
Published in:
Journal of Neurology, 2022, v. 269, n. 11, p. 6086, doi. 10.1007/s00415-022-11275-9
By:
- Ghorbani, Fatemeh;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Pennings, Maartje;
- de Boer, Eddy N.;
- Kremer, Berry;
- Vanhoutte, Els K.;
- de Vries, Jeroen J.;
- van de Berg, Raymond;
- Kamsteeg, Erik-Jan;
- van Diemen, Cleo C.;
- Westers, Helga;
- van de Warrenburg, Bart P.;
- Verbeek, Dineke S.
Publication type:
Article
Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.782685
By:
- Ghorbani, Fatemeh;
- Alimohamed, Mohamed Z.;
- Vilacha, Juliana F.;
- Van Dijk, Krista K.;
- De Boer-Bergsma, Jelkje;
- Fokkens, Michiel R.;
- Lemmink, Henny;
- Sijmons, Rolf H.;
- Sikkema-Raddatz, Birgit;
- Groves, Matthew R.;
- Verschuuren-Bemelmans, Corien C.;
- Verbeek, Dineke S.;
- Van Diemen, Cleo C.;
- Westers, Helga
Publication type:
Article
Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11205, doi. 10.3390/ijms252011205
By:
- Ghorbani, Fatemeh;
- de Boer, Eddy N.;
- Fokkens, Michiel R.;
- de Boer-Bergsma, Jelkje;
- Verschuuren-Bemelmans, Corien C.;
- Wierenga, Elles;
- Kasaei, Hamidreza;
- Noordermeer, Daan;
- Verbeek, Dineke S.;
- Westers, Helga;
- van Diemen, Cleo C.
Publication type:
Article

Found: 5

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

Transcriptional heterogeneity between primary adult grey and white matter astrocytes underlie differences in modulation of in vitro myelination.

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance.

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia.