Search Results - Esther Brusse

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  1. 1
    Fatigue in spinocerebellar ataxia

    Fatigue in spinocerebellar ataxia by Esther Brusse, Marjolein Brusse‐Keizer, Hugo J. Duivenvoorden, John C. van Swieten

    Published 2011
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  2. 2
    Misdiagnosis and diagnostic pitfalls of chronic inflammatory demyelinating polyradiculoneuropathy

    Misdiagnosis and diagnostic pitfalls of chronic inflammatory demyelinating polyradiculoneuropathy by Merel C. Broers, Carina Bunschoten, Judith Drenthen, Tiago A. O. Beck, Esther Brusse, Hester F. Lingsma, Jeffrey A. Allen, Richard A. Lewis, Pieter A. van Doorn, Bart C. Jacobs

    Published 2021
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  3. 3
    A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

    A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia by John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat‐Kievit, Peter A. J. Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

    Published 2003
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  4. 4
    Phenotypical variation within 22 families with Pompe disease

    Phenotypical variation within 22 families with Pompe disease by Stephan C.A. Wens, Carin M. Van Gelder, Michelle E. Kruijshaar, Juna M. de Vries, Nadine A. M. E. van der Beek, Arnold Reuser, Pieter A. van Doorn, Ans T. van der Ploeg, Esther Brusse

    Published 2013
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  5. 5
    Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease

    Large variation in effects during 10 years of enzyme therapy in adults with Pompe disease by Laurike Harlaar, Jean‐Yves Hogrel, Barbara Perniconi, Michelle E. Kruijshaar, Dimitris Rizopoulos, Nadjib Taouagh, Aurélie Canal, Esther Brusse, Pieter A. van Doorn, Ans T. van der Ploeg, Pascal Laforêt, Nadine A. M. E. van der Beek

    Published 2019
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  6. 6
    The unfolding clinical spectrum of POLG mutations

    The unfolding clinical spectrum of POLG mutations by Marinus J. Blok, B.J.C. van den Bosch, Eveline Jongen, Alexandra T.M. Hendrickx, C E de Die-Smulders, Jessica E. Hoogendijk, Esther Brusse, Marjolein Visser, Bwee Tien Poll‐The, Jörgen Bierau, I.F.M. de Coo, H J Smeets

    Published 2009
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  7. 7
    Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy

    Serum IgG levels in IV immunoglobulin treated chronic inflammatory demyelinating polyneuropathy by Krista Kuitwaard, P.A. van Doorn, M. Vermeulen, Leonard H. van den Berg, Esther Brusse, Anneke J. van der Kooi, W. Ludo van der Pol, Ivo N. van Schaik, Nicolette C. Notermans, Anne P. Tio‐Gillen, Wouter van Rijs, Teun van Gelder, Bart C. Jacobs

    Published 2013
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  8. 8
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... by Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    Published 2013
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  9. 9
    Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

    Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease by Stephan C.A. Wens, Gerben Schaaf, Michelle Michels, Michelle E. Kruijshaar, Tom J.M. van Gestel, Stijn in ‘t Groen, J. Pijnenburg, Dick H. W. Dekkers, Jeroen Demmers, Lex B. Verdijk, Esther Brusse, Ron H. N. van Schaik, Ans T. van der Ploeg, Pieter A. van Doorn, W.W.M. Pim Pijnappel

    Published 2016
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  10. 10
    Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients

    Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients by Leroy ten Dam, Wendy S. Frankhuizen, Wim H.J.P. Linssen, C.S.M. Straathof, Erik H. Niks, Karin G. Faber, Annemarie Fock, Jan B. M. Kuks, Esther Brusse, I.F.M. de Coo, Nicol C. Voermans, Aad Verrips, Jessica E. Hoogendijk, Ludo van der Pol, Dineke Westra, Marianne de Visser, Anneke J. van der Kooi, Ieke B. Ginjaar

    Published 2019
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  11. 11
    Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024

    Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024 by Benedikt Schoser, Nadine A. M. E. van der Beek, Alexander Broomfield, Esther Brusse, Jordi Díaz‐Manera, Andreas Hahn, Thomas Hundsberger, Cornelia Kornblum, Michelle E. Kruijshaar, Pascal Laforêt, Eugen Mengel, Tiziana Mongini, David Orlikowski, Giancarlo Parenti, W.W.M. Pim Pijnappel, Mark Roberts, Thomas Scherer, António Toscano, John Vissing, Johanna M. P. van den Hout, Pieter A. van Doorn, Stephan Wenninger, Ans T. van der Ploeg

    Published 2024
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  12. 12
    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies

    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies by Job A.J. Verdonschot, Els K. Vanhoutte, Godelieve R.F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M.E.I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. Van Craenenbroeck, Bart Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q.C.M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stéphane Heymans, Ingrid P.C. Krapels, Han G. Brunner

    Published 2020
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  13. 13
    EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

    EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders by António Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A.C. ‘t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Γεώργιος Παλιούρας, Carla D’Angelo, Rita Horváth, Michelangelo Mancuso, Nadine A. M. E. van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean‐Philippe Plançon, Jana Haberlová, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, E. Vroom, Mark D. Wilkinson, Hanns Lochmüller, Teresinha Evangelista

    Published 2024
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  14. 14
    Humoral responses after second and third SARS-CoV-2 vaccination in patients with immune-mediated inflammatory disorders on immunosuppressants: a cohort study

    Humoral responses after second and third SARS-CoV-2 vaccination in patients with immune-mediated inflammatory disorders on immunosuppressants: a cohort study by Luuk Wieske, Koos P J van Dam, Maurice Steenhuis, Eileen W Stalman, Laura Kummer, Zoé L. E. van Kempen, Joep Killestein, Adriaan Volkers, Sander W. Tas, Laura Boekel, Gertjan Wolbink, Anneke J. van der Kooi, Joost Raaphorst, Mark Löwenberg, R. Bart Takkenberg, Geert D’Haens, Phyllis I. Spuls, Marcel W. Bekkenk, Annelie H. Musters, Nicoline F. Post, Angela L. Bosma, Marc Hilhorst, Yosta Vegting, Fréderike J. Bemelman, Alexandre E. Voskuyl, Bo Broens, Agner Parra Sanchez, Cécile A. C. M. van, Jelle de Wit, Abraham Rutgers, Karina de Leeuw, Barbara Horváth, Jan J.G.M. Verschuuren, Annabel M. Ruiter, Lotte van Ouwerkerk, Diane van der Woude, Renée C.F. Allaart, Y.K. Onno Teng, Pieter van Paassen, Matthias H. Busch, Papay B P Jallah, Esther Brusse, Pieter A. van Doorn, Adája E. Baars, DirkJan Hijnen, Corine R G Schreurs, W. Ludo van der Pol, H. Stephan Goedee, Sofie Keijzer, Jim Keijser, Arend Boogaard, Olvi Cristianawati, Anja ten Brinke, Niels J. M. Verstegen, Koos Zwinderman, S. Marieke van Ham, Taco W. Kuijpers, Theo Rispens, Filip Eftimov

    Published 2022
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  15. 15
    Disease activity in patients with immune-mediated inflammatory diseases after SARS-CoV-2 vaccinations

    Disease activity in patients with immune-mediated inflammatory diseases after SARS-CoV-2 vaccinations by Koos P J van Dam, Luuk Wieske, Eileen W Stalman, Laura Kummer, Jesse Roosen, Zoé L. E. van Kempen, Joep Killestein, Adriaan Volkers, Laura Boekel, Gertjan Wolbink, Anneke J. van der Kooi, Joost Raaphorst, Mark Löwenberg, R. Bart Takkenberg, Geert D’Haens, Phyllis I. Spuls, Marcel W. Bekkenk, Annelie H. Musters, Nicoline F. Post, Angela L. Bosma, Marc Hilhorst, Yosta Vegting, Fréderike J. Bemelman, Alexandre E. Voskuyl, Bo Broens, Agner Parra Sanchez, Cécile A. C. M. van, Jelle de Wit, Abraham Rutgers, Karina de Leeuw, Barbara Horváth, Jan J.G.M. Verschuuren, Annabel M. Ruiter, Lotte van Ouwerkerk, Diane van der Woude, Renée C.F. Allaart, Y.K. Onno Teng, Pieter van Paassen, Matthias H. Busch, Papay B P Jallah, Esther Brusse, Pieter A. van Doorn, Adája E. Baars, DirkJan Hijnen, Corine R G Schreurs, W. Ludo van der Pol, H. Stephan Goedee, Maurice Steenhuis, Sofie Keijzer, Jim Keijser, Olvi Cristianawati, Theo Rispens, Anja ten Brinke, Niels J. M. Verstegen, S. Marieke van Ham, Sander W. Tas, Taco W. Kuijpers, Filip Eftimov

    Published 2023
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  16. 16
    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing

    Biallelic variants in<i>ARHGAP19</i>cause a motor-predominant neuropathy with asymmetry and conduction slowing by Natalia Dominik, Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Reneé C. Lin, Jevin Parmar, Annarita Scardamaglia, Reza Maroofian, Gabriel Aughey, Abigail D. Wilson, Simon A. Lowe, Riccardo Currò, Ricardo Parolin Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelchenska, Yohanns Bellaı̈che, Isabelle Gaugué, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da’as, Valentina Turchetti, Serdal Güngör, Ehsan Ghayoor Karimiani, Camila Armirola-Ricaurte, Haluk Topaloğlu, Albena Jordanova, Mashaya Zaman, Selina Banu, Wilson Marques, Pedro José Tomaselli, Büşra Aynekin, Ali Cansu, Hüseyin Per, Ayten Güleç, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M. Mahdi Motazacker, Esther Brusse, Vincenzo Lupo, Teresa Sevilla, A. Nazlı Başak, Şeyma Tekgül, Robin Palvadeau, Jonathan Baets, Yeşim Parman, Arman Çakar, Rita Horváth, Tobias B. Haack, J. Stahl, Kathrin Grundmann‐Hauser, Joohyun Park, Stephan Züchner, Nigel G. Laing, Lindsay Wilson, Alexander M. Rossor, James M. Polke, Fernanda Barbosa Figueiredo, André Luiz Santos Pessoa, Fernando Kok, Antônio Rodrigues Coimbra Neto, Marcondes C. França, Yalda Jamshidi, Gianina Ravenscroft, Sherifa A. Hamed, Wendy K. Chung, Daniel P. S. Osborn, Michael G. Hanna, Andrea Cortese, Mary M. Reilly, James E.C. Jepson, Nathalie Lamarche‐Vane, Henry Houlden

    Published 2024
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  17. 17
    Impact of COVID‐19 disease and vaccination on dermatological immune‐mediated inflammatory diseases atopic dermatitis, psoriasis, and vitiligo: a Target2B! substudy

    Impact of COVID‐19 disease and vaccination on dermatological immune‐mediated inflammatory diseases atopic dermatitis, psoriasis, and vitiligo: a Target2B! substudy by Nicoline F. Post, Wouter Ouwerkerk, Eileen W Stalman, Koos P J van Dam, Luuk Wieske, Marcel W. Bekkenk, Albert Wolkerstorfer, Phyllis I. Spuls, Annelie H. Musters, Angela L. Bosma, DirkJan Hijnen, Filip Eftimov, Rosalie M. Luiten, Zoé L. E. van Kempen, Eileen W Stalman, Maurice Steenhuis, Laura Kummer, Koos P J van Dam, Anja ten Brinke, S. Marieke van Ham, Taco Kuijpers, Theo Rispens, Filip Eftimov, Luuk Wieske, Joep Killestein, Anneke J. van der Kooi, J. Raaphorst, A. H. Koos Zwinderman, Mark Löwenberg, A. G. Volkers, Geert D’Haens, R. Bart Takkenberg, Sander W. Tas, Marc Hilhorst, Yosta Vegting, F. J. Bemelman, N. J. M. Verstegen, Lucía Fernández, Sofie Keijzer, Jim Keijser, Olvi Cristianawati, Alexandre E. Voskuyl, Bo Broens, Amaury Pérez Sánchez, Sergey Nejentsev, Elham Sadat Mirfazeli, G. J. Wolbink, L. Boekel, Bram Rutgers, Karina de Leeuw, Barbara Horváth, Jan J.G.M. Verschuuren, Annabel M. Ruiter, Lotte van Ouwerkerk, Diane van der Woude, Renee Allaart, Yko Teng, Matthias H. Busch, Esther Brusse, Pieter A. van Doorn, Marianne Baars, Chantal Schreurs, W. Ludo van der Pol, H. Stephan Goedee, Cécile A. C. M. van, Jill de Wit

    Published 2025
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  18. 18
    Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two prospective cohort studies

    Breakthrough SARS-CoV-2 infections with the delta (B.1.617.2) variant in vaccinated patients with immune-mediated inflammatory diseases using immunosuppressants: a substudy of two... by Laura Boekel, Eileen W Stalman, Luuk Wieske, Femke Hooijberg, Koos P J van Dam, Yaëlle R Besten, Laura Kummer, Maurice Steenhuis, Zoé L. E. van Kempen, Joep Killestein, Adriaan Volkers, Sander W. Tas, Anneke J. van der Kooi, Joost Raaphorst, Mark Löwenberg, R. Bart Takkenberg, Geert D’Haens, Phyllis I. Spuls, Marcel W. Bekkenk, Annelie H. Musters, Nicoline F. Post, Angela L. Bosma, Marc Hilhorst, Yosta Vegting, Fréderike J. Bemelman, Alexandre E. Voskuyl, Bo Broens, Agner Parra Sanchez, Cécile A. C. M. van, Jelle de Wit, Abraham Rutgers, Karina de Leeuw, Barbara Horváth, Jan J.G.M. Verschuuren, Annabel M. Ruiter, Lotte van Ouwerkerk, Diane van der Woude, Cornelia F Allaart, Y.K. Onno Teng, Pieter van Paassen, Matthias H. Busch, Papay B P Jallah, Esther Brusse, Pieter A. van Doorn, Adája E. Baars, DirkJan Hijnen, Corine R G Schreurs, W. Ludo van der Pol, H. Stephan Goedee, Erik Vogelzang, Maureen Leeuw, Sadaf Atiqi, Ronald van Vollenhoven, Martijn Gerritsen, Irene van der Horst‐Bruinsma, Willem F. Lems, Michael T. Nurmohamed, Maarten Boers, Sofie Keijzer, Jim Keijser, Carolien E. van de Sandt, Arend Boogaard, Olvi Cristianawati, Anja ten Brinke, Niels J. M. Verstegen, Koos Zwinderman, S. Marieke van Ham, Theo Rispens, Taco W. Kuijpers, Gertjan Wolbink, Filip Eftimov, Rivka de Jongh, Carolien E. van de Sandt, Lisan H. Kuijper, Mariël C Duurland, Ruth R Hagen, Jet van den Dijssel, Christine Kreher, Amélie Bos, Viriginia Palomares Cabeza, Veronique A. L. Konijn, George Elias, Juán A. Vallejo, Marrit van Gils, Tom Ashhurst, Sergey Nejentsev, Elham Sadat Mirfazeli

    Published 2022
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