Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene ( MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)
Meredith, Christopher, Herrmann, Ralf, Parry, Cheryl, Liyanage, Khema, Dye, Danielle E., Durling, Hayley J., Duff, Rachael M., Beckman, Kaye, de Visser, Marianne, van der Graaff, Maaike M., Hedera, Peter, Fink, John K., Petty, Elizabeth M., Lamont, Phillipa, Fabian, Vicki, Bridges, Leslie, Voit, Thomas, Mastaglia, Frank L., Laing, Nigel G.
Published in American journal of human genetics (01.10.2004)
Published in American journal of human genetics (01.10.2004)
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Journal Article
The cognitive profile of ALS: a systematic review and meta-analysis update
Beeldman, Emma, Raaphorst, Joost, Klein Twennaar, Michelle, de Visser, Marianne, Schmand, Ben A, de Haan, Rob J
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2016)
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Journal Article
Book Review
229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie
Published in Neuromuscular disorders : NMD (01.08.2018)
Published in Neuromuscular disorders : NMD (01.08.2018)
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Journal Article
Conference Proceeding
239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018
Mammen, Andrew L., Allenbach, Yves, Stenzel, Werner, Benveniste, Olivier, Allenbach, Yves, Benveniste, Olivier, Bleecker, Jan De, Boyer, Olivier, Casciola-Rosen, Livia, Christopher-Stine, Lisa, Damoiseaux, Jan, Gitiaux, Cyril, Fujimoto, Manabu, Lamb, Janine, Landon-Cardinal, Océane, E. Lundberg, Ingrid, Mammen, Andrew, Nishino, Ichizo, Radke, Josefine, Selva-O'Callaghan, Albert, Stenzel, Werner, Vencovsky, Jiri, de Visser, Marianne, Wang, Guochun, Wedderburn, Lucy, Werth, Victoria
Published in Neuromuscular disorders : NMD (01.01.2020)
Published in Neuromuscular disorders : NMD (01.01.2020)
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Journal Article
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Engelen, Marc, Kemp, Stephan, de Visser, Marianne, van Geel, Björn M, Wanders, Ronald J A, Aubourg, Patrick, Poll-The, Bwee Tien
Published in Orphanet journal of rare diseases (13.08.2012)
Published in Orphanet journal of rare diseases (13.08.2012)
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Journal Article
Pathophysiological Mechanisms and Treatment of Dermatomyositis and Immune Mediated Necrotizing Myopathies: A Focused Review
Kamperman, Renske G, van der Kooi, Anneke J, de Visser, Marianne, Aronica, Eleonora, Raaphorst, Joost
Published in International journal of molecular sciences (13.04.2022)
Published in International journal of molecular sciences (13.04.2022)
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Journal Article
Intravenous immunoglobulins as first-line treatment in idiopathic inflammatory myopathies: a pilot study
Lim, Johan, Eftimov, Filip, Verhamme, Camiel, Brusse, Esther, Hoogendijk, Jessica E, Saris, Christiaan G J, Raaphorst, Joost, De Haan, Rob J, van Schaik, Ivo N, Aronica, Eleonora, de Visser, Marianne, van der Kooi, Anneke J
Published in Rheumatology (Oxford, England) (06.04.2021)
Published in Rheumatology (Oxford, England) (06.04.2021)
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Journal Article
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A
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
Published in Orphanet journal of rare diseases (16.10.2021)
Published in Orphanet journal of rare diseases (16.10.2021)
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Journal Article
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies
Bolduc, Véronique, Marlow, Gareth, Boycott, Kym M., Saleki, Khalil, Inoue, Hiroshi, Kroon, Johan, Itakura, Mitsuo, Robitaille, Yves, Parent, Lucie, Baas, Frank, Mizuta, Kuniko, Kamata, Nobuyuki, Richard, Isabelle, Linssen, Wim H.J.P., Mahjneh, Ibrahim, de Visser, Marianne, Bashir, Rumaisa, Brais, Bernard
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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Journal Article
OMERACT 2018 Modified Patient-reported Outcome Domain Core Set in the Life Impact Area for Adult Idiopathic Inflammatory Myopathies
Regardt, Malin, Mecoli, Christopher A, Park, Jin Kyun, de Groot, Ingrid, Sarver, Catherine, Needham, Merrilee, de Visser, Marianne, Shea, Beverly, Bingham, 3rd, Clifton O, Lundberg, Ingrid E, Song, Yeong W, Christopher-Stine, Lisa, Alexanderson, Helene
Published in Journal of rheumatology (01.10.2019)
Published in Journal of rheumatology (01.10.2019)
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Journal Article
Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis
Huisman, Mark H B, Seelen, Meinie, van Doormaal, Perry T C, de Jong, Sonja W, de Vries, Jeanne H M, van der Kooi, Anneke J, de Visser, Marianne, Schelhaas, H Jurgen, van den Berg, Leonard H, Veldink, Jan H
Published in JAMA neurology (01.10.2015)
Published in JAMA neurology (01.10.2015)
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Journal Article
Advance care planning in progressive neurological diseases: lessons from ALS
Seeber, Antje A, Pols, A Jeannette, Hijdra, Albert, Grupstra, Hepke F, Willems, Dick L, de Visser, Marianne
Published in BMC palliative care (13.06.2019)
Published in BMC palliative care (13.06.2019)
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Journal Article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect
Lemmers, Richard J L F, van der Vliet, Patrick J, Granado, David San Leon, van der Stoep, Nienke, Buermans, Henk, van Schendel, Robin, Schimmel, Joost, de Visser, Marianne, van Coster, Rudy, Jeanpierre, Marc, Laforet, Pascal, Upadhyaya, Meena, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Voermans, Nicol C, Rogers, Mark, van der Maarel, Silvère M
Published in Human molecular genetics (03.03.2022)
Published in Human molecular genetics (03.03.2022)
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Journal Article
Screening for cognition in amyotrophic lateral sclerosis: test characteristics of a new screen
Beeldman, Emma, Govaarts, Rosanne, de Visser, Marianne, van Es, Michael A., Pijnenburg, Yolande A. L., Schmand, Ben A., Raaphorst, Joost
Published in Journal of neurology (01.07.2021)
Published in Journal of neurology (01.07.2021)
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