Works by Verbeek, Dineke S.

Results: 34
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    Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.

    Published in:
    Annals of Neurology, 2012, v. 72, n. 6, p. 870, doi. 10.1002/ana.23700
    By:
    • Duarri, Anna;
    • Jezierska, Justyna;
    • Fokkens, Michiel;
    • Meijer, Michel;
    • Schelhaas, Helenius J.;
    • den Dunnen, Wilfred F. A.;
    • van Dijk, Freerk;
    • Verschuuren-Bemelmans, Corien;
    • Hageman, Gerard;
    • van de Vlies, Pieter;
    • Küsters, Benno;
    • van de Warrenburg, Bart P.;
    • Kremer, Berry;
    • Wijmenga, Cisca;
    • Sinke, Richard J.;
    • Swertz, Morris A.;
    • Kampinga, Harm H.;
    • Boddeke, Erik;
    • Verbeek, Dineke S.
    Publication type:
    Article
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    Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

    Published in:
    Molecular Brain, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13041-021-00736-3
    By:
    • Huang, Miaozhen;
    • Nibbeling, Esther A. R.;
    • Lagrand, Tjerk J.;
    • Souza, Ivana A.;
    • Groen, Justus L.;
    • Gandini, Maria A.;
    • Zhang, Fang-Xiong;
    • Koelman, Johannes H. T. M.;
    • Adir, Noam;
    • Sinke, Richard J.;
    • Zamponi, Gerald W.;
    • Tijssen, Marina A. J.;
    • Verbeek, Dineke S.
    Publication type:
    Article
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    First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.

    Published in:
    BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0200-3
    By:
    • Smets, Katrien;
    • Duarri, Anna;
    • Deconinck, Tine;
    • Ceulemans, Berten;
    • van de Warrenburg, Bart P.;
    • Züchner, Stephan;
    • Gonzalez, Michael Anthony;
    • Schüle, Rebecca;
    • Synofzik, Matthis;
    • Van der Aa, Nathalie;
    • De Jonghe, Peter;
    • Verbeek, Dineke S.;
    • Baets, Jonathan
    Publication type:
    Article
    16

    First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

    Published in:
    BMC Medical Genetics, 2015, v. 16, n. 1, p. 51, doi. 10.1186/s12881-015-0200-3
    By:
    • Smets, Katrien;
    • Duarri, Anna;
    • Deconinck, Tine;
    • Ceulemans, Berten;
    • van de Warrenburg, Bart P.;
    • Züchner, Stephan;
    • Gonzalez, Michael Anthony;
    • Schüle, Rebecca;
    • Synofzik, Matthis;
    • Van der Aa, Nathalie;
    • De Jonghe, Peter;
    • Verbeek, Dineke S.;
    • Baets, Jonathan
    Publication type:
    Article
    17

    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
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    CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 4, p. 987, doi. 10.1093/hmg/ddu513
    By:
    • Groen, Justus L.;
    • Andrade, Arturo;
    • Ritz, Katja;
    • Jalalzadeh, Hamid;
    • Haagmans, Martin;
    • Bradley, Ted E. J.;
    • Jongejan, Aldo;
    • Verbeek, Dineke S.;
    • Nürnberg, Peter;
    • Denome, Sylvia;
    • Hennekam, Raoul C. M.;
    • Lipscombe, Diane;
    • Baas, Frank;
    • Tijssen, Marina A. J.
    Publication type:
    Article
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    Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases.

    Published in:
    PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0116599
    By:
    • Duarri, Anna;
    • Nibbeling, Esther A. R.;
    • Fokkens, Michiel R.;
    • Meijer, Michel;
    • Boerrigter, Melissa;
    • Verschuuren-Bemelmans, Corien C.;
    • Kremer, Berry P. H.;
    • van de Warrenburg, Bart P.;
    • Dooijes, Dennis;
    • Boddeke, Erik;
    • Sinke, Richard J.;
    • Verbeek, Dineke S.
    Publication type:
    Article
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    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
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