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ArticlesPeer ReviewedFull Text
New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)
Author / Creator:Federico, Antonio ; de Visser, Marianne
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2021-07, Vol.42 (7), p.2603-2606
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2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups
Author / Creator:Lundberg, Ingrid E ; Tjärnlund, Anna ; Bottai, Matteo ; Werth, Victoria P ; Pilkington, Clarissa ; Visser, Marianne de ; Alfredsson, Lars ; Amato, Anthony A ; Barohn, Richard J ; Liang, Matthew H ; Singh, Jasvinder A ; Aggarwal, Rohit ; Arnardottir, Snjolaug ; Chinoy, Hector ; Cooper, Robert G ; Dankó, Katalin ; Dimachkie, Mazen M ; Feldman, Brian M ; Torre, Ignacio Garcia-De La ; Gordon, Patrick ; Hayashi, Taichi ; Katz, James D ; Kohsaka, Hitoshi ; Lachenbruch, Peter A ; Lang, Bianca A ; Li, Yuhui ; Oddis, Chester V ; Olesinska, Marzena ; Reed, Ann M ; Rutkowska-Sak, Lidia ; Sanner, Helga ; Selva-O’Callaghan, Albert ; Song, Yeong-Wook ; Vencovsky, Jiri ; Ytterberg, Steven R ; Miller, Frederick W ; Rider, Lisa G
Publisher:United States: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2017-12, Vol.76 (12), p.1955-1964
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Author / Creator:Engelen, Marc ; Kemp, Stephan ; de Visser, Marianne ; van Geel, Björn M ; Wanders, Ronald JA ; Aubourg, Patrick ; Poll-The, Bwee
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-08, Vol.7 (1), p.51-51
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A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.433-433, Article 433
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The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey
Author / Creator:Mancuso, Michelangelo ; Colitta, Alessandro ; Lavorato, Manuela ; Van den Bergh, Peter ; Kirschner, Janbernd ; Kornblum, Cornelia ; Maggi, Lorenzo ; Lamy, Francois ; Lochmüller, Hanns ; Nordstrøm, Marianne ; Malfatti, Edoardo ; Ferlini, Alessandra ; Pareyson, Davide ; Silani, Vincenzo ; Kleopa, Kleopas A ; de Visser, Marianne ; Atalaia, Antonio ; Evangelista, Teresinha
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-05, Vol.20 (1), p.221-10, Article 221
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Advance care planning in progressive neurological diseases: lessons from ALS
Author / Creator:Seeber, Antje A. ; Pols, A. Jeannette ; Hijdra, Albert ; Grupstra, Hepke F. ; Willems, Dick L. ; de Visser, Marianne
Publisher:England: BioMed Central Ltd
Journal title:BMC palliative care, 2019-06, Vol.18 (1), p.50-50, Article 50
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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
Author / Creator:Atalaia, Antonio ; Wandrei, Dagmar ; Lalout, Nawel ; Thompson, Rachel ; Tassoni, Adrian ; ’t Hoen, Peter A. C. ; Athanasiou, Dimitrios ; Baker, Suzie-Ann ; Sakellariou, Paraskevi ; Paliouras, Georgios ; D’Angelo, Carla ; Horvath, Rita ; Mancuso, Michelangelo ; van der Beek, Nadine ; Kornblum, Cornelia ; Kirschner, Janbernd ; Pareyson, Davide ; Bassez, Guillaume ; Blacas, Laura ; Jacoupy, Maxime ; Eng, Catherine ; Lamy, François ; Plançon, Jean-Philippe ; Haberlova, Jana ; Brusse, Esther ; Hoeijmakers, Janneke G. J. ; de Visser, Marianne ; Claeys, Kristl G. ; Paradas, Carmen ; Toscano, Antonio ; Silani, Vincenzo ; Gyenge, Melinda ; Reviers, Evy ; Hamroun, Dalil ; Vroom, Elisabeth ; Wilkinson, Mark D. ; Lochmuller, Hanns ; Evangelista, Teresinha
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.66-66, Article 66
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Screening for cognition in amyotrophic lateral sclerosis: test characteristics of a new screen
Author / Creator:Beeldman, Emma ; Govaarts, Rosanne ; de Visser, Marianne ; van Es, Michael A. ; Pijnenburg, Yolande A. L. ; Schmand, Ben A. ; Raaphorst, Joost
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2021-07, Vol.268 (7), p.2533-2540
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Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-04, Vol.19 (1), p.142-142, Article 142
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Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study
Author / Creator:van der Beek, Nadine AME ; de Vries, Juna M ; Hagemans, Marloes LC ; Hop, Wim CJ ; Kroos, Marian A ; Wokke, John HJ ; de Visser, Marianne ; van Engelen, Baziel GM ; Kuks, Jan BM ; van der Kooi, Anneke J ; Notermans, Nicolette C ; Faber, Karin G ; Verschuuren, Jan JGM ; Reuser, Arnold JJ ; van der Ploeg, Ans T ; van Doorn, Pieter A
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.88-88
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Treatment with add-on IVIg in Myositis Early In the diSease course May be sUperior to Steroids alone for reaching CLinical improvEment (TIME IS MUSCLE): study protocol of a phase-2 double-blind placeb...
Author / Creator:Kamperman, Renske G ; Bogaards, Johannes A ; Evers, Sanne W ; Walter, Hannah A W ; de Visser, Marianne ; de Borgie, Corianne ; Colen - de Koning, Jantine C A ; Verhamme, Camiel ; Maas, Mario ; Eftimov, Filip ; van Schaik, Ivo N ; van der Kooi, Anneke J ; Raaphorst, Joost
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2023-07, Vol.13 (7), p.e067435-e067435
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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
Author / Creator:van Berlo, Jop H. ; de Voogt, Willem G. ; van der Kooi, Anneke J. ; van Tintelen, J. Peter ; Bonne, Gisèle ; Yaou, Rabah Ben ; Duboc, Denis ; Rossenbacker, Tom ; Heidbüchel, Hein ; de Visser, Marianne ; Crijns, Harry J. G. M. ; Pinto, Yigal M.
Publisher:Germany: Springer Nature B.V
Journal title:Journal of molecular medicine (Berlin, Germany), 2005-01, Vol.83 (1), p.79-83
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ArticlesPeer ReviewedFull Text
Genetic Overlap between Apparently Sporadic Motor Neuron Diseases
Author / Creator:van Blitterswijk, Marka ; Vlam, Lotte ; van Es, Michael A. ; van der Pol, W-Ludo ; Hennekam, Eric A. M. ; Dooijes, Dennis ; Schelhaas, Helenius J. ; van der Kooi, Anneke J. ; de Visser, Marianne ; Veldink, Jan H. ; van den Berg, Leonard H.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-11, Vol.7 (11), p.e48983-e48983
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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study
Author / Creator:de Vries, Juna M ; van der Beek, Nadine AME ; Hop, Wim CJ ; Karstens, Francois PJ ; Wokke, John H ; de Visser, Marianne ; van Engelen, Baziel GM ; Kuks, Jan BM ; van der Kooi, Anneke J ; Notermans, Nicolette C ; Faber, Catharina G ; Verschuuren, Jan JGM ; Kruijshaar, Michelle E ; Reuser, Arnold JJ ; van Doorn, Pieter A ; van der Ploeg, Ans T
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-09, Vol.7 (1), p.73-73, Article 73
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Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial
Author / Creator:Verhamme, Camiel ; de Haan, Rob J ; Vermeulen, Marinus ; Baas, Frank ; de Visser, Marianne ; van Schaik, Ivo N
Publisher:England: BioMed Central Ltd
Journal title:BMC medicine, 2009-11, Vol.7 (1), p.70-70, Article 70
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OptimisAtion of Diagnostic Accuracy in idioPathic inflammaTory myopathies (ADAPT study): a protocol for a prospective diagnostic accuracy study of multimodality testing in patients suspected of a trea...
Author / Creator:Walter, Hannah A W ; Kamperman, Renske G ; Raaphorst, Joost ; Verhamme, Camiel ; Koelman, Johannes H T M ; Potters, Wouter V ; Hemke, Robert ; Smithuis, Frank F ; Aronica, Eleonora ; van Leeuwen, Ester M M ; Baars, Paul A ; de Visser, Marianne ; van Schaik, Ivo N ; Bossuyt, Patrick M M ; van der Kooi, Anneke J
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ open, 2021-12, Vol.11 (12), p.e053594-e053594
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Root compression on MRI compared with clinical findings in patients with recent onset cervical radiculopathy
Author / Creator:Kuijper, Barbara ; Tans, Jos Th J ; van der Kallen, Bas F ; Nollet, Frans ; Lycklama a Nijeholt, Geert J ; de Visser, Marianne
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of neurology, neurosurgery and psychiatry, 2011-05, Vol.82 (5), p.561-563
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ArticlesPeer ReviewedFull Text
Lovastatin in X-Linked Adrenoleukodystrophy
Author / Creator:Engelen, Marc ; van Geel, Bjorn M ; de Visser, Marianne ; Ofman, Rob ; Wanders, Ronald J.A ; Dijkgraaf, Marcel G.W ; Poll-The, Bwee Tien ; Hijzen, Michiel ; Kemp, Stephan ; van der Wardt, Lucinda A
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2010-01, Vol.362 (3), p.276-277
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ArticlesPeer ReviewedFull Text
Cervical collar or physiotherapy versus wait and see policy for recent onset cervical radiculopathy: randomised trial
Author / Creator:Kuijper, Barbara ; Tans, Jos Th J ; Beelen, Anita ; Nollet, Frans ; Visser, Marianne de
Publisher:England: British Medical Journal Publishing Group
Journal title:BMJ, 2009-10, Vol.339 (7727), p.952-954
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Nutrition and lifestyle intervention in type 2 diabetes: pilot study in the Netherlands showing improved glucose control and reduction in glucose lowering medication
Author / Creator:Pot, Gerda K ; Battjes-Fries, Marieke CE ; Patijn, Olga N ; Pijl, Hanno ; Witkamp, Renger F ; de Visser, Marianne ; van der Zijl, Nynke ; de Vries, Maaike ; Voshol, Peter J
Publisher:England: BMJ Publishing Group LTD
Journal title:BMJ nutrition, prevention & health, 2019-06, Vol.2 (1), p.43-50
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Showing 1 to 20 of 86 results

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New disease modifying therapies for two genetic childhood-onset neurometabolic disorders (metachromatic leucodystrophy and adrenoleucodystrophy)

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2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups

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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management

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A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

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The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey

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Advance care planning in progressive neurological diseases: lessons from ALS

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

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Screening for cognition in amyotrophic lateral sclerosis: test characteristics of a new screen

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Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot–Marie–Tooth type 1A

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Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

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Treatment with add-on IVIg in Myositis Early In the diSease course May be sUperior to Steroids alone for reaching CLinical improvEment (TIME IS MUSCLE): study protocol of a phase-2 double-blind placeb...

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Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

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Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study

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Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

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OptimisAtion of Diagnostic Accuracy in idioPathic inflammaTory myopathies (ADAPT study): a protocol for a prospective diagnostic accuracy study of multimodality testing in patients suspected of a trea...

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Root compression on MRI compared with clinical findings in patients with recent onset cervical radiculopathy

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Lovastatin in X-Linked Adrenoleukodystrophy

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Cervical collar or physiotherapy versus wait and see policy for recent onset cervical radiculopathy: randomised trial

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Nutrition and lifestyle intervention in type 2 diabetes: pilot study in the Netherlands showing improved glucose control and reduction in glucose lowering medication

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