Works matching AU van de Warrenburg, Bart P. C.


Results: 38
    1

    Network localization of cervical dystonia based on causal brain lesions.

    Published in:
    2019
    By:
    • Corp, Daniel T;
    • Joutsa, Juho;
    • Darby, R Ryan;
    • Delnooz, Cathérine C S;
    • Warrenburg, Bart P C van de;
    • Cooke, Danielle;
    • Prudente, Cecília N;
    • Ren, Jianxun;
    • Reich, Martin M;
    • Batla, Amit;
    • Bhatia, Kailash P;
    • Jinnah, Hyder A;
    • Liu, Hesheng;
    • Fox, Michael D;
    • van de Warrenburg, Bart P C
    Publication type:
    journal article
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    A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 2, p. 1, doi. 10.1111/nan.12892
    By:
    • Santana, Magda M.;
    • Gaspar, Laetitia S.;
    • Pinto, Maria M.;
    • Silva, Patrick;
    • Adão, Diana;
    • Pereira, Dina;
    • Afonso Ribeiro, Joana;
    • Cunha, Inês;
    • Huebener-Schmid, Jeannette;
    • Raposo, Mafalda;
    • Ferreira, Ana F.;
    • Faber, Jennifer;
    • Kuhs, Sandra;
    • Garcia-Moreno, Hector;
    • Reetz, Kathrin;
    • Thieme, Andreas;
    • Infante, Jon;
    • van de Warrenburg, Bart P. C.;
    • Giunti, Paola;
    • Riess, Olaf
    Publication type:
    Article
    6

    A standardised protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.

    Published in:
    Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12892
    By:
    • Santana, Magda M.;
    • Gaspar, Laetitia S.;
    • Pinto, Maria M.;
    • Silva, Patrick;
    • Adão, Diana;
    • Pereira, Dina;
    • Ribeiro, Joana Afonso;
    • Cunha, Inês;
    • Huebener‐Schmid, Jeannette;
    • Raposo, Mafalda;
    • Ferreira, Ana F.;
    • Faber, Jennifer;
    • Kuhs, Sandra;
    • Garcia‐Moreno, Hector;
    • Reetz, Kathrin;
    • Thieme, Andreas;
    • Infante, Jon;
    • van de Warrenburg, Bart P. C.;
    • Giunti, Paola;
    • Riess, Olaf
    Publication type:
    Article
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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
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    Neuromuscular transmission in SCA6.

    Published in:
    Annals of Neurology, 2004, v. 55, n. 3, p. 451
    By:
    • H. Jurgen Schelhaas;
    • Bart P. C Van De Warrenburg;
    • Hubertus P. H. Kremer;
    • Machiel J. Zwarts
    Publication type:
    Article
    22

    How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 663, doi. 10.1002/jimd.12507
    By:
    • Wortmann, Saskia B.;
    • Oud, Machteld M.;
    • Alders, Mariëlle;
    • Coene, Karlien L. M.;
    • van der Crabben, Saskia N.;
    • Feichtinger, René G.;
    • Garanto, Alejandro;
    • Hoischen, Alex;
    • Langeveld, Mirjam;
    • Lefeber, Dirk;
    • Mayr, Johannes A.;
    • Ockeloen, Charlotte W.;
    • Prokisch, Holger;
    • Rodenburg, Richard;
    • Waterham, Hans R.;
    • Wevers, Ron A.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michel A. A. P.;
    • Wolf, Nicole I.;
    • Vissers, Lisenka E. L. M.
    Publication type:
    Article
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    CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 4, p. 1286, doi. 10.1093/brain/awae330
    By:
    • Hommersom, Marina P;
    • Doorn, Nina;
    • Puvogel, Sofía;
    • Lewerissa, Elly I;
    • Mordelt, Annika;
    • Ciptasari, Ummi;
    • Kampshoff, Franziska;
    • Dillen, Lieke;
    • Beusekom, Ellen van;
    • Oudakker, Astrid;
    • Kogo, Naoki;
    • Dolga, Amalia M;
    • Frega, Monica;
    • Schubert, Dirk;
    • Warrenburg, Bart P C van de;
    • Kasri, Nael Nadif;
    • Bokhoven, Hans van
    Publication type:
    Article
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    The complexities of CACNA1A in clinical neurogenetics.

    Published in:
    Journal of Neurology, 2022, v. 269, n. 6, p. 3094, doi. 10.1007/s00415-021-10897-9
    By:
    • Hommersom, Marina P.;
    • van Prooije, Teije H.;
    • Pennings, Maartje;
    • Schouten, Meyke I.;
    • van Bokhoven, Hans;
    • Kamsteeg, Erik-Jan;
    • van de Warrenburg, Bart P. C.
    Publication type:
    Article
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    Classic ataxia-telangiectasia: the phenotype of long-term survivors.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 3, p. 830, doi. 10.1007/s00415-019-09641-1
    By:
    • van Os, Nienke J. H.;
    • van Deuren, Marcel;
    • Weemaes, Corry M. R.;
    • van Gaalen, Judith;
    • Hijdra, Helma;
    • Taylor, Alexander M. R.;
    • van de Warrenburg, Bart P. C.;
    • Willemsen, Michèl A. A. P.
    Publication type:
    Article
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