Works matching AU de Visser, Marianne

Results: 100
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    Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.

    Published in:
    JAMA Neurology, 2017, v. 74, n. 6, p. 686, doi. 10.1001/jamaneurol.2016.4357
    By:
    • Sommerville, Ewen W.;
    • Yi Shiau Ng;
    • Alston, Charlotte L.;
    • Dallabona, Cristina;
    • Gilberti, Micol;
    • Langping He;
    • Knowles, Charlotte;
    • Chin, Sophie L.;
    • Schaefer, Andrew M.;
    • Falkous, Gavin;
    • Murdoch, David;
    • Longman, Cheryl;
    • de Visser, Marianne;
    • Bindoff, Laurence A.;
    • Rawles, John M.;
    • Dean, John C. S.;
    • Petty, Richard K.;
    • Farrugia, Maria E.;
    • Haack, Tobias B.;
    • Prokisch, Holger
    Publication type:
    Article
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    Autosomal recessive limb‐girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.

    Published in:
    Clinical Genetics, 2019, v. 96, n. 2, p. 126, doi. 10.1111/cge.13544
    By:
    • ten Dam, Leroy;
    • Frankhuizen, Wendy S.;
    • Linssen, Wim H.J.P.;
    • Straathof, Chiara S.;
    • Niks, Erik H.;
    • Faber, Karin;
    • Fock, Annemarie;
    • Kuks, Jan B.;
    • Brusse, Esther;
    • de Coo, René;
    • Voermans, Nicol;
    • Verrips, Aad;
    • Hoogendijk, Jessica E.;
    • van der Pol, Ludo;
    • Westra, Dineke;
    • de Visser, Marianne;
    • van der Kooi, Anneke J.;
    • Ginjaar, Ieke
    Publication type:
    Article
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    Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A.

    Published in:
    2024
    By:
    • Attarian, Shahram;
    • Young, Peter;
    • Brannagan, Thomas H.;
    • Adams, David;
    • Van Damme, Philip;
    • Thomas, Florian P.;
    • Casanovas, Carlos;
    • Kafaie, Jafar;
    • Tard, Céline;
    • Walter, Maggie C.;
    • Péréon, Yann;
    • Walk, David;
    • Stino, Amro;
    • de Visser, Marianne;
    • Verhamme, Camiel;
    • Amato, Anthony;
    • Carter, Gregory;
    • Magy, Laurent;
    • Statland, Jeffrey M.;
    • Felice, Kevin
    Publication type:
    Correction Notice
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    Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

    Published in:
    Nature Genetics, 2009, v. 41, n. 10, p. 1083, doi. 10.1038/ng.442
    By:
    • van Es, Michael A.;
    • Veldink, Jan H.;
    • Saris, Christiaan G. J.;
    • Blauw, Hylke M.;
    • van Vught, Paul W. J.;
    • Birve, Anna;
    • Lemmens, Robin;
    • Schelhaas, Helenius J.;
    • Groen, Ewout J. N.;
    • Huisman, Mark H. B.;
    • van der Kooi, Anneke J.;
    • de Visser, Marianne;
    • Dahlberg, Caroline;
    • Estrada, Karol;
    • Rivadeneira, Fernando;
    • Hofman, Albert;
    • Zwarts, Machiel J.;
    • van Doormaal, Perry T. C.;
    • Rujescu, Dan;
    • Strengman, Eric
    Publication type:
    Article
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    The phenotype of the Gly94fsX222 PMP22 insertion.

    Published in:
    Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 113, doi. 10.1111/j.1529-8027.2011.00333.x
    By:
    • de Vries, Sara D. J.;
    • Verhamme, Camiel;
    • van Ruissen, Fred;
    • van Paassen, Barbara W.;
    • Arts, Willem F.;
    • Kerkhoff, Henk;
    • van Engelen, Baziel G. M.;
    • Lammens, Martin;
    • de Visser, Marianne;
    • Baas, Frank;
    • van der Kooi, Anneke J.
    Publication type:
    Article
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    High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 5, p. 748, doi. 10.1093/hmg/ddab250
    By:
    • Lemmers, Richard J L F;
    • Vliet, Patrick J van der;
    • Granado, David San Leon;
    • van der Stoep, Nienke;
    • Buermans, Henk;
    • Schendel, Robin van;
    • Schimmel, Joost;
    • Visser, Marianne de;
    • Coster, Rudy van;
    • Jeanpierre, Marc;
    • Laforet, Pascal;
    • Upadhyaya, Meena;
    • Engelen, Baziel van;
    • Sacconi, Sabrina;
    • Tawil, Rabi;
    • Voermans, Nicol C;
    • Rogers, Mark;
    • Maarel, Silvère M van der
    Publication type:
    Article
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    Hypertension risk in idiopathic hyperCKemia.

    Published in:
    Journal of Neurology, 2008, v. 255, n. 1, p. 11, doi. 10.1007/s00415-008-0651-y
    By:
    • Brewster, Lizzy M.;
    • van Bree, Sjoerd;
    • Reijneveld, Jaap C.;
    • Notermans, Nicolette C.;
    • Verschuren, W. M. Monique;
    • Clark, Joseph F.;
    • van Montfrans, Gert A.;
    • de Visser, Marianne
    Publication type:
    Article
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    Comparison of CMT1A and CMT2: similarities and differences.

    Published in:
    Journal of Neurology, 2006, v. 253, n. 12, p. 1572, doi. 10.1007/s00415-006-0260-6
    By:
    • Bienfait, Henriette M. E.;
    • Verhamme, Camiel;
    • van Schaik, Ivo N.;
    • Koelman, Johannes H. T. M.;
    • Ongerboer de Visser, Bram W.;
    • de Haan, Rob J.;
    • Baas, Frank;
    • van Engelen, Baziel G. M.;
    • de Visser, Marianne
    Publication type:
    Article
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    2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Adult Dermatomyositis and Polymyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

    Published in:
    Arthritis & Rheumatology, 2017, v. 69, n. 5, p. 898, doi. 10.1002/art.40064
    By:
    • Aggarwal, Rohit;
    • Rider, Lisa G.;
    • Ruperto, Nicolino;
    • Bayat, Nastaran;
    • Erman, Brian;
    • Feldman, Brian M.;
    • Oddis, Chester V.;
    • Amato, Anthony A.;
    • Chinoy, Hector;
    • Cooper, Robert G.;
    • Dastmalchi, Maryam;
    • Fiorentino, David;
    • Isenberg, David;
    • Katz, James D.;
    • Mammen, Andrew;
    • de Visser, Marianne;
    • Ytterberg, Steven R.;
    • Lundberg, Ingrid E.;
    • Chung, Lorinda;
    • Danko, Katalin
    Publication type:
    Article
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    Parental age and the risk of amyotrophic lateral sclerosis.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3/4, p. 224, doi. 10.3109/21678421.2012.739176
    By:
    • de Jong, Sonja W.;
    • Huisman, Mark H. B.;
    • Hennekam, Eric A. M.;
    • Sutedja, Nadia A.;
    • van der Kooi, Anneke J.;
    • de Visser, Marianne;
    • Schelhaas, H. Jurgen;
    • Fischer, Kathelijn;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.
    Publication type:
    Article
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    Parental age and the risk of amyotrophic lateral sclerosis.

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 3, p. 224, doi. 10.3109/21678421.2012.739176
    By:
    • de Jong, Sonja W.;
    • Huisman, Mark H. B.;
    • Hennekam, Eric A. M.;
    • Sutedja, Nadia A.;
    • van der Kooi, Anneke J.;
    • de Visser, Marianne;
    • Schelhaas, H. Jurgen;
    • Fischer, Kathelijn;
    • Veldink, Jan H.;
    • van den Berg, Leonard H.
    Publication type:
    Article
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    Is the Frontal Assessment Battery reliable in ALS patients?

    Published in:
    Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013, v. 14, n. 1, p. 73, doi. 10.3109/17482968.2012.712974
    By:
    • Raaphorst, Joost;
    • Beeldman, Emma;
    • Jaeger, Bregje;
    • Schmand, Ben;
    • van den Berg, Leonard H.;
    • Weikamp, Janneke G.;
    • Schelhaas, H. Jurgen;
    • de Visser, Marianne;
    • de Haan, Rob J.
    Publication type:
    Article
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    Dystrophin muscle enhancer 1is implicated in the activation of non-muscle isoforms in the skeletal muscleof patients with X-linked dilated cardiomyopathy.

    Published in:
    Human Molecular Genetics, 2001, v. 10, n. 23, p. 2627, doi. 10.1093/hmg/10.23.2627
    By:
    • Bastianutto, Carlo;
    • Bestard, JenniferA.;
    • Lahnakoski, Karina;
    • Broere, Daniel;
    • De Visser, Marianne;
    • Zaccolo, Manuela;
    • Pozzan, Tullio;
    • Ferlini, Alessandra;
    • Muntoni, Francesco;
    • Patarnello, Tomaso;
    • KlamutTowhom correspondence should be addressed at: Ontario Cancer Institute,Princess Margaret Hospital, University Health Network, Room 10-721, 610 University Avenue, Toronto, Ontario, M5G 2M9, Canada. Tel: +1416 946 2981; Fax: +1 416 946 2984; ..., Henry J.
    Publication type:
    Article
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    What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic Review.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 6, p. 1, doi. 10.1111/ene.70240
    By:
    • Aleksovska, Katina;
    • Kyriakides, Theodoros;
    • Angelini, Corrado;
    • Argov, Zohar;
    • Claeys, Kristl G.;
    • de Visser, Marianne;
    • Filosto, Massimiliano;
    • Jovanovic, Ivanka;
    • Kostera‐Pruszczyk, Anna;
    • Molnar, Maria Julia;
    • Sacconi, Sabrina;
    • Schaefer, Jochen;
    • Siciliano, Gabriele;
    • Vilchez, Juan J.;
    • Toscano, Antonio;
    • Schoser, Benedikt
    Publication type:
    Article
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    Sex steroid hormones and epilepsy: Effects of hormonal replacement therapy on seizure frequency of postmenopausal women with epilepsy—A systematic review.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 9, p. 2884, doi. 10.1111/ene.15916
    By:
    • Carvalho, Vanessa;
    • Colonna, Isabella;
    • Curia, Giulia;
    • Ferretti, Maria Teresa;
    • Arabia, Gennarina;
    • Molnar, Maria Judit;
    • Lebedeva, Elena R.;
    • Moro, Elena;
    • de Visser, Marianne;
    • Bui, Esther;
    • Aybek, Selma;
    • Hege Aamodt, Anne;
    • Goudier, Riadh;
    • Grisold, Wolfgang;
    • Jaarsma, Joke;
    • Matczack, Magda;
    • Magyari, Melinda;
    • Rakusa, Martin;
    • Pajediene, Evelina;
    • Tracey, Irene
    Publication type:
    Article
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    Mapping of European activities on the integration of sex and gender factors in neurology and neuroscience.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 9, p. 2572, doi. 10.1111/ene.15439
    By:
    • Hentzen, Nina B.;
    • Ferretti, Maria Teresa;
    • Santuccione Chadha, Antonella;
    • Jaarsma, Joke;
    • De Visser, Marianne;
    • Moro, Elena;
    • Aamodt, Anne Hege;
    • Arabia, Gennarina;
    • Aybeck, Selma;
    • Carvalho, Vanessa;
    • Goudier, Riadh;
    • Grisold, Wolfgang;
    • Lebedeva, Elena R.;
    • Matczack, Magda;
    • Magyari, Melinda;
    • Molnar, Maria Judit;
    • Rakusa, Martin;
    • Pajediene, Evelina;
    • Tracy, Irene;
    • Vonck, Kristl
    Publication type:
    Article
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    Gender issues during the times of COVID‐19 pandemic.

    Published in:
    European Journal of Neurology, 2021, v. 28, n. 10, p. e73, doi. 10.1111/ene.14815
    By:
    • Grisold, Wolfgang;
    • Moro, Elena;
    • Teresa Ferretti, Maria;
    • Hege Aamodt, Anne;
    • Arabia, Gennarina;
    • Lebedeva, Elena R.;
    • Carvalho, Vanessa;
    • Rakusa, Martin;
    • Vonck, Kristl;
    • Aybeck, Selma;
    • Hassan Mansour, Alia;
    • Goudier, Riadh;
    • Giovannoni, Gavin;
    • Jaarsma, Joke;
    • Judit Molnar, Maria;
    • Matczack, Magda;
    • Bassetti, Claudio;
    • de Visser, Marianne
    Publication type:
    Article
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    Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

    Published in:
    Annals of Neurology, 2006, v. 59, n. 2, p. 276
    By:
    • Stephan Züchner;
    • Peter De Jonghe;
    • Albena Jordanova;
    • Kristl G. Claeys;
    • Velina Guergueltcheva;
    • Sylvia Cherninkova;
    • Steven R. Hamilton;
    • Greg Van Stavern;
    • Karen M. Krajewski;
    • Jeffery Stajich;
    • Ivajlo Tournev;
    • Kristien Verhoeven;
    • Christine T. Langerhorst;
    • Marianne de Visser;
    • Frank Baas;
    • Thomas Bird;
    • Vincent Timmerman;
    • Michael Shy;
    • Jeffery M. Vance
    Publication type:
    Article
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    Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo.

    Published in:
    2002
    By:
    • Badrising, Umesh A.;
    • Maat-Schieman, Marion L.C.;
    • Ferrari, Michel D.;
    • Zwinderman, Aeilko H.;
    • Wessels, Judith A.M.;
    • Breedveld, Ferdinand C.;
    • van Doorn, Pieter A.;
    • van Engelen, Baziel G.M.;
    • Hoogendijk, Jessica E.;
    • Höweler, Chris J.;
    • de Jager, Aeiko E.;
    • Jennekens, Frans G.I.;
    • Koehler, Peter J.;
    • de Visser, Marianne;
    • Viddeleer, Alain;
    • Verschuuren, Jan J.;
    • Wintzen, Axel R.;
    • Höweler, Chris J
    Publication type:
    journal article
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