Works matching AU van de Warrenburg, Bart P.

Results: 85
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    De novo SPAST mutations may cause a complex SPG4 phenotype.

    Published in:
    2019
    By:
    • Schieving, Jolanda H;
    • Bot, Susanne T de;
    • Pol, Laura A van de;
    • Wolf, Nicole I;
    • Brilstra, Eva H;
    • Frints, Suzanna G;
    • Gaalen, Judith van;
    • Misra-lsrie, Mala;
    • Pennings, Maartje;
    • Verschuuren-Bemelmans, Corien C;
    • Kamsteeg, Erik-Jan;
    • Warrenburg, Bart P van de;
    • Willemsen, Michèl A;
    • de Bot, Susanne T;
    • van de Pol, Laura A;
    • van Gaalen, Judith;
    • van de Warrenburg, Bart P;
    • Misra-Isrie, Mala
    Publication type:
    Letter
    3

    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
    4

    The Shaking Shoelace.

    Published in:
    Journal of Parkinson's Disease, 2019, v. 9, n. 1, p. 249, doi. 10.3233/JPD-181541
    By:
    • Bloem, Bastiaan R.;
    • Helmich, Rick C.;
    • Tilanus, Tiane;
    • van de Warrenburg, Bart P.
    Publication type:
    Article
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    DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation.

    Published in:
    Movement Disorders, 2010, v. 25, n. 14, p. 2420, doi. 10.1002/mds.23285
    By:
    • Groen, Justus L.;
    • Ritz, Katja;
    • Contarino, Maria Fiorella;
    • van de Warrenburg, Bart P.;
    • Aramideh, Majid;
    • Foncke, Elisabeth M.;
    • van Hilten, Jacobus J.;
    • Schuurman, P. Richard;
    • Speelman, Johannes D.;
    • Koelman, Johannes H.;
    • de Bie, Rob M.A.;
    • Baas, Frank;
    • Tijssen, Marina A.
    Publication type:
    Article
    16

    Pallidopyramidal disease: A misnomer?

    Published in:
    Movement Disorders, 2010, v. 25, n. 9, p. 1109, doi. 10.1002/mds.23118
    By:
    • Horstink, Martin W.I.M.;
    • Dekker, Marieke C.;
    • Montagna, Pasquale;
    • Bonifati, Vincenzo;
    • van De Warrenburg, Bart P.
    Publication type:
    Article
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    Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.

    Published in:
    Movement Disorders, 2008, v. 23, n. 15, p. 2232, doi. 10.1002/mds.22288
    By:
    • Globas, Christoph;
    • du Montcel, Sophie Tezenas;
    • Baliko, Laslo;
    • Boesch, Syliva;
    • Depondt, Chantal;
    • DiDonato, Stefano;
    • Durr, Alexandra;
    • Filla, Alessandro;
    • Klockgether, Thomas;
    • Mariotti, Caterina;
    • Melegh, Bela;
    • Rakowicz, Maryla;
    • Ribai, Pascale;
    • Rola, Rafal;
    • Schmitz-Hubsch, Tanja;
    • Szymanski, Sandra;
    • Timmann, Dagmar;
    • Van de Warrenburg, Bart P.;
    • Bauer, Peter;
    • Schols, Ludger
    Publication type:
    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
    22

    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
    23

    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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    Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia.

    Published in:
    Cerebellum, 2024, v. 23, n. 5, p. 2012, doi. 10.1007/s12311-024-01700-2
    By:
    • Potashman, Michele;
    • Rudell, Katja;
    • Pavisic, Ivanna;
    • Suminski, Naomi;
    • Doma, Rinchen;
    • Heinrich, Maggie;
    • Abetz-Webb, Linda;
    • Beiner, Melissa Wolfe;
    • Kuo, Sheng-Han;
    • Rosenthal, Liana S.;
    • Zesiwicz, Theresa;
    • Fife, Terry D.;
    • van de Warrenburg, Bart P.;
    • Ristori, Giovanni;
    • Synofzik, Matthis;
    • Perlman, Susan;
    • Schmahmann, Jeremy D.;
    • L'Italien, Gilbert
    Publication type:
    Article
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    Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4132, doi. 10.1093/brain/awad128
    By:
    • Raposo, Mafalda;
    • Hübener-Schmid, Jeannette;
    • Ferreira, Ana F;
    • Melo, Ana Rosa Vieira;
    • Vasconcelos, João;
    • Pires, Paula;
    • Kay, Teresa;
    • Garcia-Moreno, Hector;
    • Giunti, Paola;
    • Santana, Magda M;
    • Almeida, Luis Pereira de;
    • Infante, Jon;
    • Warrenburg, Bart P van de;
    • Vries, Jeroen J de;
    • Faber, Jennifer;
    • Klockgether, Thomas;
    • Casadei, Nicolas;
    • Admard, Jakob;
    • Schöls, Ludger;
    • group, European Spinocerebellar ataxia type 3/Machado-Joseph disease Initiative (ESMI) study
    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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    Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 905
    By:
    • Reetz, Kathrin;
    • Costa, Ana S.;
    • Mirzazade, Shahram;
    • Lehmann, Anna;
    • Juzek, Agnes;
    • Rakowicz, Maria;
    • Boguslawska, Romana;
    • Schöls, Ludger;
    • Linnemann, Christoph;
    • Mariotti, Caterina;
    • Grisoli, Marina;
    • Dürr, Alexandra;
    • van de Warrenburg, Bart P.;
    • Timmann, Dagmar;
    • Pandolfo, Massimo;
    • Bauer, Peter;
    • Jacobi, Heike;
    • Hauser, Till-Karsten;
    • Klockgether, Thomas;
    • Schulz, Jörg B.
    Publication type:
    Article
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    Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3.

    Published in:
    Annals of Neurology, 2024, v. 95, n. 2, p. 400, doi. 10.1002/ana.26824
    By:
    • Faber, Jennifer;
    • Berger, Moritz;
    • Wilke, Carlo;
    • Hubener‐Schmid, Jeannette;
    • Schaprian, Tamara;
    • Santana, Magda M.;
    • Grobe‐Einsler, Marcus;
    • Onder, Demet;
    • Koyak, Berkan;
    • Giunti, Paola;
    • Garcia‐Moreno, Hector;
    • Gonzalez‐Robles, Cristina;
    • Lima, Manuela;
    • Raposo, Mafalda;
    • Melo, Ana Rosa Vieira;
    • de Almeida, Luís Pereira;
    • Silva, Patrick;
    • Pinto, Maria M.;
    • van de Warrenburg, Bart P.;
    • van Gaalen, Judith
    Publication type:
    Article
    43

    Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

    Published in:
    2019
    By:
    • Schon, Katherine;
    • van Os, Nienke J.H.;
    • Oscroft, Nicholas;
    • Baxendale, Helen;
    • Scoffings, Daniel;
    • Ray, Julian;
    • Suri, Mohnish;
    • Whitehouse, William P.;
    • Mehta, Puja R.;
    • Everett, Natasha;
    • Bottolo, Leonardo;
    • Warrenburg, Bart P.;
    • Byrd, Philip J.;
    • Weemaes, Corry;
    • Willemsen, Michel A.;
    • Tischkowitz, Marc;
    • Taylor, A. Malcolm;
    • Hensiek, Anke E.;
    • van de Warrenburg, Bart P
    Publication type:
    journal article
    44

    Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

    Published in:
    2018
    By:
    • Seong, Eunju;
    • Insolera, Ryan;
    • Dulovic, Marija;
    • Kamsteeg, Erik‐Jan;
    • Trinh, Joanne;
    • Brüggemann, Norbert;
    • Sandford, Erin;
    • Li, Sheng;
    • Ozel, Ayse Bilge;
    • Li, Jun Z.;
    • Jewett, Tamison;
    • Kievit, Anneke J. A.;
    • Münchau, Alexander;
    • Shakkottai, Vikram;
    • Klein, Christine;
    • Collins, Catherine A.;
    • Lohmann, Katja;
    • van de Warrenburg, Bart P.;
    • Burmeister, Margit;
    • Kamsteeg, Erik-Jan
    Publication type:
    journal article
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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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    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
    50

    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