Works by Engelen, Baziel G.


Results: 108
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    Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.

    Published in:
    Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac292
    By:
    • van den Bersselaar, Luuk R.;
    • Jungbluth, Heinz;
    • Kruijt, Nick;
    • Kamsteeg, Erik-Jan;
    • Fernandez-Garcia, Miguel A.;
    • Treves, Susan;
    • Riazi, Sheila;
    • Malagon, Ignacio;
    • van Eijk, Lucas T.;
    • van Alfen, Nens;
    • van Engelen, Baziel G. M.;
    • Scheffer, Gert-Jan;
    • Snoeck, Marc M. J.;
    • Voermans, Nicol C.
    Publication type:
    Article
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    Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjögren's Syndrome and Systemic Lupus Erythematosus.

    Published in:
    Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01200
    By:
    • Rietveld, Anke;
    • van den Hoogen, Luuk L.;
    • Bizzaro, Nicola;
    • Blokland, Sofie L. M.;
    • Dähnrich, Cornelia;
    • Gottenberg, Jacques-Eric;
    • Houen, Gunnar;
    • Johannsen, Nora;
    • Mandl, Thomas;
    • Meyer, Alain;
    • Nielsen, Christoffer T.;
    • Olsson, Peter;
    • van Roon, Joel;
    • Schlumberger, Wolfgang;
    • van Engelen, Baziel G. M.;
    • Saris, Christiaan G. J.;
    • Pruijn, Ger J. M.
    Publication type:
    Article
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    Mutation-specific effects on thin filament length in thin filament myopathy.

    Published in:
    2016
    By:
    • Winter, Josine M. de;
    • Joureau, Barbara;
    • Lee, Eun‐Jeong;
    • Kiss, Balázs;
    • Yuen, Michaela;
    • Gupta, Vandana A.;
    • Pappas, Christopher T.;
    • Gregorio, Carol C.;
    • Stienen, Ger J. M.;
    • Edvardson, Simon;
    • Wallgren‐Pettersson, Carina;
    • Lehtokari, Vilma‐Lotta;
    • Pelin, Katarina;
    • Malfatti, Edoardo;
    • Romero, Norma B.;
    • Engelen, Baziel G. van;
    • Voermans, Nicol C.;
    • Donkervoort, Sandra;
    • Bönnemann, C. G.;
    • Clarke, Nigel F.
    Publication type:
    journal article
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    Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis.

    Published in:
    2013
    By:
    • Pluk, Helma;
    • van Hoeve, Bas J A;
    • van Dooren, Sander H J;
    • Stammen-Vogelzangs, Judith;
    • van der Heijden, Annemarie;
    • Schelhaas, Helenius J;
    • Verbeek, Marcel M;
    • Badrising, Umesh A;
    • Arnardottir, Snjolaug;
    • Gheorghe, Karina;
    • Lundberg, Ingrid E;
    • Boelens, Wilbert C;
    • van Engelen, Baziel G;
    • Pruijn, Ger J M
    Publication type:
    Journal Article
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    Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis.

    Published in:
    Annals of Neurology, 2013, v. 73, n. 3, p. 397, doi. 10.1002/ana.23822
    By:
    • Pluk, Helma;
    • Hoeve, Bas J. A.;
    • Dooren, Sander H. J.;
    • Stammen‐Vogelzangs, Judith;
    • Heijden, Annemarie;
    • Schelhaas, Helenius J.;
    • Verbeek, Marcel M.;
    • Badrising, Umesh A.;
    • Arnardottir, Snjolaug;
    • Gheorghe, Karina;
    • Lundberg, Ingrid E.;
    • Boelens, Wilbert C.;
    • Engelen, Baziel G.;
    • Pruijn, Ger J. M.
    Publication type:
    Article
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    KBTBD13 is a novel cardiomyopathy gene.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 1860, doi. 10.1002/humu.24499
    By:
    • de Winter, Josine M.;
    • Bouman, Karlijn;
    • Strom, Joshua;
    • Methawasin, Mei;
    • Jongbloed, Jan D. H.;
    • van der Roest, Wilma;
    • Wijngaarden, Jan van;
    • Timmermans, Janneke;
    • Nijveldt, Robin;
    • van den Heuvel, Frederik;
    • Kamsteeg, Erik‐Jan;
    • van Engelen, Baziel G.;
    • Galli, Ricardo;
    • Bogaards, Sylvia J. P.;
    • Boon, Reinier A.;
    • van der Pijl, Robbert J.;
    • Granzier, Henk;
    • Koeleman, Bobby;
    • Amin, Ahmad S.;
    • van der Velden, Jolanda
    Publication type:
    Article
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    Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system.

    Published in:
    Annals of Neurology, 2008, v. 63, n. 4, p. 473, doi. 10.1002/ana.21328
    By:
    • Janssen, Antoon J. M.;
    • Schuelke, Markus;
    • Smeitink, Jan A. M.;
    • Trijbels, Frans J. M.;
    • Sengers, Rob C. A.;
    • Lucke, Barbara;
    • Wintjes, Liesbeth T. M.;
    • Morava, Eva;
    • van Engelen, Baziel G. M.;
    • Smits, Bart W.;
    • Hol, Frans A.;
    • Siers, Marloes H.;
    • Ter Laak, Henk;
    • van der Knaap, Marjo S.;
    • Van Spronsen, Francjan J.;
    • Rodenburg, Richard J. T.;
    • van den Heuvel, Lambert P.
    Publication type:
    Article
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    Reply.

    Published in:
    Annals of Neurology, 1993, v. 33, n. 6, p. 660, doi. 10.1002/ana.410330620
    By:
    • van Engelen, Baziel G. M.;
    • Hommes, Otto R.;
    • Pinckers, Alfred;
    • Cruysberg, Johan R. M.;
    • Barkhof, Frederik;
    • Rodriguez, Moses
    Publication type:
    Article
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    Familial adult-onset muscular dystrophy with leukoencephalopathy.

    Published in:
    Annals of Neurology, 1992, v. 32, n. 4, p. 577, doi. 10.1002/ana.410320415
    By:
    • van Engelen, Baziel G. M.;
    • Leyten, Quint H.;
    • Bernsen, Pieter L. J. A.;
    • Gabreëls, Fons J. M.;
    • Joosten, Ed M. G.;
    • ter Laak, Henk J.;
    • Ruijs, Mechelien B. M.;
    • Hamel, Ben C. J.;
    • Cruysberg, Johan R. M.;
    • Barkhof, Frederik;
    • Valk, Jaap
    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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    Inclusion body myositis.

    Published in:
    Journal of Neurology, 2005, v. 252, n. 12, p. 1448, doi. 10.1007/s00415-005-0884-y
    By:
    • Badrising, Umesh A.;
    • Maat-Schieman, Marion L. C.;
    • van Houwelingen, Johannes C.;
    • van Doorn, Pieter A.;
    • van Duinen, Sjoerd G.;
    • van Engelen, Baziel G. M.;
    • Faber, Carin G.;
    • Hoogendijk, Jessica E.;
    • de Jager, Aeiko E.;
    • Koehler, Peter J.;
    • de Visser, Marianne;
    • Verschuuren, Jan J. G. M.;
    • Wintzen, Axel R.
    Publication type:
    Article
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    Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.

    Published in:
    Journal of the Peripheral Nervous System, 2012, v. 17, n. 2, p. 223, doi. 10.1111/j.1529-8027.2012.00402.x
    By:
    • Voermans, Nicol C.;
    • Kleefstra, Tjitske;
    • Gabreëls-Festen, Anneke A.;
    • Faas, Brigitte H. W.;
    • Kamsteeg, Erik-Jan;
    • Houlden, Henry;
    • Laurá, Matilde;
    • Polke, James M.;
    • Pandraud, Amelie;
    • van Ruissen, Fred;
    • van Engelen, Baziel G.;
    • Reilly, Mary M.
    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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    Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810
    By:
    • Draaisma, Fieke;
    • Leenders, Erika K. S. M.;
    • Erasmus, Corrie E.;
    • Braakman, Hilde M. H.;
    • Burgers, Melanie C. J.;
    • Coppens, Catelijne H.;
    • Rinne, Tuula;
    • Zenker, Martin;
    • Tartaglia, Marco;
    • Reintjes, Wesley;
    • Voermans, Nicol C.;
    • van Engelen, Baziel G. M.;
    • van Alfen, Nens;
    • Draaisma, Jos M. T.
    Publication type:
    Article
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    Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 3, p. 655, doi. 10.1093/brain/awp336
    By:
    • Leen, Wilhelmina G.;
    • Klepper, Joerg;
    • Verbeek, Marcel M.;
    • Leferink, Maike;
    • Hofste, Tom;
    • van Engelen, Baziel G.;
    • Wevers, Ron A.;
    • Arthur, Todd;
    • Bahi-Buisson, Nadia;
    • Ballhausen, Diana;
    • Bekhof, Jolita;
    • van Bogaert, Patrick;
    • Carrilho, Inês;
    • Chabrol, Brigitte;
    • Champion, Michael P.;
    • Coldwell, James;
    • Clayton, Peter;
    • Donner, Elizabeth;
    • Evangeliou, Athanasios;
    • Ebinger, Friedrich
    Publication type:
    Article
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    Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.

    Published in:
    2021
    By:
    • Bouman, Karlijn;
    • Groothuis, Jan T.;
    • Doorduin, Jonne;
    • van Alfen, Nens;
    • Udink ten Cate, Floris E. A.;
    • van den Heuvel, Frederik M. A.;
    • Nijveldt, Robin;
    • van Tilburg, Willem C. M.;
    • Buckens, Stan C. F. M.;
    • Dittrich, Anne T. M.;
    • Draaisma, Jos M. T.;
    • Janssen, Mirian C. H.;
    • Kamsteeg, Erik-Jan;
    • van Kleef, Esmee S. B.;
    • Koene, Saskia;
    • Smeitink, Jan A. M.;
    • Küsters, Benno;
    • van Tienen, Florence H. J.;
    • Smeets, Hubert J. M.;
    • van Engelen, Baziel G. M.
    Publication type:
    journal article
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    The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.

    Published in:
    Skeletal Muscle, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13395-022-00310-y
    By:
    • Claus, Clothilde;
    • Slavin, Moriya;
    • Ansseau, Eugénie;
    • Lancelot, Céline;
    • Bah, Karimatou;
    • Lassche, Saskia;
    • Fiévet, Manon;
    • Greco, Anna;
    • Tomaiuolo, Sara;
    • Tassin, Alexandra;
    • Dudome, Virginie;
    • Kusters, Benno;
    • Declèves, Anne-Emilie;
    • Laoudj-Chenivesse, Dalila;
    • van Engelen, Baziel G. M.;
    • Nonclercq, Denis;
    • Belayew, Alexandra;
    • Kalisman, Nir;
    • Coppée, Frédérique
    Publication type:
    Article
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