Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken
Benveniste, Olivier, Stenzel, Werner, Hilton-Jones, David, Sandri, Marco, Boyer, Olivier, van Engelen, Baziel G. M.
Published in Acta neuropathologica (01.05.2015)
Published in Acta neuropathologica (01.05.2015)
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Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials
Stunnenberg, Bas C, Raaphorst, Joost, Groenewoud, Hans M, Statland, Jeffrey M, Griggs, Robert C, Woertman, Willem, Stegeman, Dick F, Timmermans, Janneke, Trivedi, Jaya, Matthews, Emma, Saris, Christiaan G. J, Schouwenberg, Bas J, Drost, Gea, van Engelen, Baziel G. M, van der Wilt, Gert Jan
Published in JAMA : the journal of the American Medical Association (11.12.2018)
Published in JAMA : the journal of the American Medical Association (11.12.2018)
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Three‐dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy
Jong, Leon, Greco, Anna, Nikolaev, Anton, Weijers, Gert, Engelen, Baziel G. M., Korte, Chris L., Fütterer, Jurgen J.
Published in Muscle & nerve (01.10.2023)
Published in Muscle & nerve (01.10.2023)
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
Lemmers, Richard J L F, Tawil, Rabi, Petek, Lisa M, Balog, Judit, Block, Gregory J, Santen, Gijs W E, Amell, Amanda M, van der Vliet, Patrick J, Almomani, Rowida, Straasheijm, Kirsten R, Krom, Yvonne D, Klooster, Rinse, Sun, Yu, den Dunnen, Johan T, Helmer, Quinta, Donlin-Smith, Colleen M, Padberg, George W, van Engelen, Baziel G M, de Greef, Jessica C, Aartsma-Rus, Annemieke M, Frants, Rune R, de Visser, Marianne, Desnuelle, Claude, Sacconi, Sabrina, Filippova, Galina N, Bakker, Bert, Bamshad, Michael J, Tapscott, Stephen J, Miller, Daniel G, van der Maarel, Silvère M
Published in Nature genetics (01.12.2012)
Published in Nature genetics (01.12.2012)
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The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound
Vincenten, Sanne C. C., van Doorn, Jeroen L. M., Teeselink, Sjan, Rasing, Nathaniel B., Padberg, George W., Voermans, Nicol C., Engelen, Baziel G. M., van Alfen, Nens, Mul, Karlien
Published in Muscle & nerve (01.11.2024)
Published in Muscle & nerve (01.11.2024)
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Journal Article
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
Mul, Karlien, Horlings, Corinne G. C., Vincenten, Sanne C. C., Voermans, Nicol C., van Engelen, Baziel G. M., van Alfen, Nens
Published in Journal of neurology (01.11.2018)
Published in Journal of neurology (01.11.2018)
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Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration
Janssen, Barbara H, Voet, Nicoline B M, Nabuurs, Christine I, Kan, Hermien E, de Rooy, Jacky W J, Geurts, Alexander C, Padberg, George W, van Engelen, Baziel G M, Heerschap, Arend
Published in PloS one (14.01.2014)
Published in PloS one (14.01.2014)
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Detecting impaired muscle relaxation in myopathies with the use of motor cortical stimulation
Molenaar, Joery P., van Kleef, Esmee, van Zandvoort, Elianne, van Alfen, Nens, van Engelen, Baziel G., Voermans, Nicol C., Doorduin, Jonne
Published in Neuromuscular disorders : NMD (01.05.2023)
Published in Neuromuscular disorders : NMD (01.05.2023)
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Journal Article
Neuralgic amyotrophy and hepatitis E virus infection
van Eijk, Jeroen J J, Madden, Richie G, van der Eijk, Annemiek A, Hunter, Jeremy G, Reimerink, Johan H J, Bendall, Richard P, Pas, Suzan D, Ellis, Vic, van Alfen, Nens, Beynon, Laura, Southwell, Lucy, McLean, Brendan, Jacobs, Bart C, van Engelen, Baziel G M, Dalton, Harry R
Published in Neurology (11.02.2014)
Published in Neurology (11.02.2014)
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Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype
Joosten, Isis B.T., Horlings, Corinne G. C., Vosse, Bettine A. H., Wagner, Anouk, Bovenkerk, David S. H., Evertz, Reinder, Vernooy, Kevin, Engelen, Baziel G. M., Faber, Catharina G.
Published in Muscle & nerve (01.02.2023)
Published in Muscle & nerve (01.02.2023)
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Clinical phenotype and outcome of hepatitis E virus-associated neuralgic amyotrophy
van Eijk, Jeroen J J, Dalton, Harry R, Ripellino, Paolo, Madden, Richard G, Jones, Catherine, Fritz, Miriam, Gobbi, Claudio, Melli, Giorgia, Pasi, Emanuela, Herrod, Jenny, Lissmann, Rebecca F, Ashraf, Hamad H, Abdelrahim, Mohamed, Masri, Omar A B A L, Fraga, Montserrat, Benninger, David, Kuntzer, Thierry, Aubert, Vincent, Sahli, Roland, Moradpour, Darius, Blasco-Perrin, Hélène, Attarian, Shahram, Gérolami, Rene, Colson, Philippe, Giordani, Maria T, Hartl, Johannes, Pischke, Sven, Lin, Nan X, Mclean, Brendan N, Bendall, Richard P, Panning, Marcus, Peron, Jean-Marie, Kamar, Nassim, Izopet, Jacques, Jacobs, Bart C, van Alfen, Nens, van Engelen, Baziel G M
Published in Neurology (29.08.2017)
Published in Neurology (29.08.2017)
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Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI: Protocol development, multicenter feasibility, and repeatability
Widholm, Per, Ahlgren, André, Karlsson, Markus, Romu, Thobias, Tawil, Rabi, Wagner, Kathryn R., Statland, Jeffrey M., Wang, Leo H., Shieh, Perry B., Engelen, Baziel G. M., Cadavid, Diego, Ronco, Lucienne, Odueyungbo, Adefowope O., Jiang, John G., Mellion, Michelle L., Dahlqvist Leinhard, Olof
Published in Muscle & nerve (01.08.2022)
Published in Muscle & nerve (01.08.2022)
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Journal Article
Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis
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.
Published in Annals of neurology (01.03.2013)
Published in Annals of neurology (01.03.2013)
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The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)
Mul, Karlien, Hamadeh, Tatiana, Horlings, Corinne G. C., Tawil, Rabi, Statland, Jeffrey M., Sacconi, Sabrina, Corbett, Alastair J., Voermans, Nicol C., Faber, Catharina G., Engelen, Baziel G. M., Merkies, Ingemar S. J.
Published in European journal of neurology (01.07.2021)
Published in European journal of neurology (01.07.2021)
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Journal Article
Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy
Kroon, Rosemarie H. M. J. M., Kalf, Johanna G., Meijers, Rutger L., Swart, Bert J. M., Cameron, Ian G. M., Doorduin, Jonne, Alfen, Nens, Engelen, Baziel G. M., Horlings, Corinne G. C.
Published in Muscle & nerve (01.10.2022)
Published in Muscle & nerve (01.10.2022)
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Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study
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., Engelen, Baziel G. M., Alfen, Nens, Draaisma, Jos M. T.
Published in American journal of medical genetics. Part A (01.11.2024)
Published in American journal of medical genetics. Part A (01.11.2024)
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