Prof. PhD M. de Visser publications

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Publications Prof. PhD M. de Visser

Position
Full Professor
Main activities
Patient care, Other
Specialisation
Neurology and in particular Neuromuscular Disorders
Focus of research

Neuromuscular disorders: motor neuron disease, hereditary neuropathies, inflammatory myopathies

2020

  • Oudeman Jos, Eftimov Filip, Strijkers Gustav J., Schneiders Joppe J., Roosendaal Stefan D., Engbersen Maurits P., Froeling Martijn, Goedee H. Stephan, van Doorn Pieter A., Caan Matthan W. A., van Schaik Ivo N., Maas Mario, Nederveen Aart J., de Visser Marianne, Verhamme Camiel Diagnostic accuracy of MRI and ultrasound in chronic immune-mediated neuropathies Neurology 2020;94 (1):e62-e74 [PubMed]
  • Oliver David, de Visser Marianne, Voltz Raymond Editorial: Palliative Care in Neurology Frontiers in neurology 2020;10 [PubMed]

2019

  • Seeber Antje A., Pols A. Jeannette, Hijdra Albert, Grupstra Hepke F., Willems Dick L., de Visser Marianne Advance care planning in progressive neurological diseases: Lessons from ALS BMC palliative care 2019;18 (1) [PubMed]
  • 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 Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients Clinical genetics 2019;96 (2):126-133 [PubMed]
  • de Visser Marianne Evidence for treatment of spasticity in motor neuron disease Lancet neurology 2019;18 (2):130-131 [PubMed]
  • Seeber Antje A., Pols A. Jeannette, Hijdra Albert, Grupstra Hepke F., Willems Dick L., de Visser Marianne Experiences and reflections of patients with motor neuron disease on breaking the news in a two-tiered appointment: a qualitative study BMJ supportive & palliative care 2019;9 (1) [PubMed]
  • Wienke Judith, Bellutti Enders Felicitas, Lim Johan, Mertens Jorre S, van den Hoogen Luuk L, Wijngaarde Camiel A, Yeo Joo Guan, Meyer Alain, Otten Henny G, Fritsch-Stork Ruth D E, Kamphuis Sylvia S M, Hoppenreijs Esther P A H, Armbrust Wineke, van den Berg J Merlijn, Hissink Muller Petra C E, Tekstra Janneke, Hoogendijk Jessica E, Deakin Claire T, de Jager Wilco, van Roon Joël A G, van der Pol W Ludo, Nistala Kiran, Pilkington Clarissa, de Visser Marianne, Arkachaisri Thaschawee, Radstake Timothy R D J, van der Kooi Anneke J, Nierkens Stefan, Wedderburn Lucy R, van Royen-Kerkhof Annet, van Wijk Femke Galectin-9 and CXCL10 as Biomarkers for Disease Activity in Juvenile Dermatomyositis: A Longitudinal Cohort Study and Multicohort Validation Arthritis & rheumatology (Hoboken, N.J.) 2019;71 (8):1377-1390 [PubMed]
  • Olivier Pieter A., de Paepe Boel, Aronica Eleonora, Berfelo Florieke, Colman Roos, Amato Anthony, Dimitri Dalia, Gallardo Eduard, Gherardi Romain, Goebel Hans-Hilmar, Hilton-Jones David, Hofer Monika, Holton Janice, Schrøder Henrik Daa, Selcen Duygu, Stenzel Werner, de Visser Marianne, de Bleecker Jan L. Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading Neurology 2019;93 (9):e889-e894 [PubMed]
  • Seeber Antje A. Palliative care in chronic progressive neurological disease: Changing perspectives 2019. 195p. ISBN 9789402815054. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Willems D. L. , de Visser Marianne; Co-supervisor: Pols J. J.)
  • Mecoli Christopher A., Park Jin Kyun, Alexanderson Helene, Regardt Malin, Needham Merrilee, de Groot Ingrid, Sarver Catherine, Lundberg Ingrid E., Shea Beverley, de Visser Marianne, Song Yeong Wook, Bingham Clifton O., Christopher-Stine Lisa Perceptions of patients, caregivers, and healthcare providers of idiopathic inflammatory myopathies: An international OMERACT study Journal of rheumatology 2019;46 (1):106-111 [PubMed]
  • Raaphorst Joost, Beeldman Emma, Govaarts Rosanne, Schmand Ben, de Visser Marianne Reader response: ALS-specific cognitive and behavior changes associated with advancing disease stage in ALS Neurology 2019;93 (2):85-86 [PubMed]
  • Hanna Michael G., Badrising Umesh A., Benveniste Olivier, Lloyd Thomas E., Needham Merrilee, Chinoy Hector, Aoki Masashi, Machado Pedro M., Liang Christina, Reardon Katrina A., de Visser Marianne, Ascherman Dana P., Barohn Richard J., Dimachkie Mazen M., Miller James A. L., Kissel John T., Oskarsson Björn, Joyce Nanette C., van den Bergh Peter, Baets Jonathan, de Bleecker Jan L., Karam Chafic, David William S., Mirabella Massimiliano, Nations Sharon P., Jung Hans H., Pegoraro Elena, Maggi Lorenzo, Rodolico Carmelo, Filosto Massimiliano, Shaibani Aziz I., Sivakumar Kumaraswamy, Goyal Namita A., Mori-Yoshimura Madoka, Yamashita Satoshi, Suzuki Naoki, Katsuno Masahisa, Murata Kenya, Nodera Hiroyuki, Nishino Ichizo, Romano Carla D., Williams Valerie S. L., Vissing John, Auberson Lixin Zhang, Wu Min, de Vera Ana, Papanicolaou Dimitris A., Amato Anthony A. Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial Lancet neurology 2019;18 (9):834-844 [PubMed]
  • Lim Johan, Rietveld Anke, de Bleecker Jan L., Badrising Umesh A., Saris Christiaan G. J., van der Kooi Anneke J., de Visser Marianne Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy Neurology® neuroimmunology & neuroinflammation 2019;6 (1):e513 [PubMed]
  • Walter Hannah A. W., Seeber Antje A., Willems Dick L., de Visser Marianne The role of palliative care in chronic progressive neurological diseases-a survey amongst neurologists in the Netherlands Frontiers in neurology 2019;10 (JAN) [PubMed]

2018

  • Allenbach Yves, Mammen Andrew L., Benveniste Olivier, Stenzel Werner, Amato Anthony, Aussey Audrey, de Bleecker Jan, de Groot Ingrid, de Visser Marianne, Goebel Hans, Hervier Baptiste, Fischer Norina, Hilton-Jones David, Lamb Janice, Lundberg Ingrid, Mammen Andrew, Mozaffar Tahseen, Nishino Ichizo, Pestronk Alan, Schara Ulrike, Stenzelr Werner 224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016 Neuromuscular disorders 2018;28 (1):87-99 [PubMed]
  • Lundberg Ingrid E., de Visser Marianne, Werth Victoria P. Classification of myositis Nature reviews. Rheumatology 2018;14 (5):269-278 [PubMed]
  • Weterman Marian A. J., Kuo Molly, Kenter Susan B., Gordillo Sara, Karjosukarso Dyah W., Takase Ryuichi, Bronk Marieke, Oprescu Stephanie, van Ruissen Fred, Witteveen Ron J. W., Bienfait Henriette M. E., Breuning Martijn, Verhamme Camiel, Hou Ya-Ming, de Visser Marianne, Antonellis Anthony, Baas Frank Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities Human molecular genetics 2018;27 (23):4036-4050 [PubMed]
  • Beeldman Emma, Raaphorst Joost, Klein Twennaar Michelle, Govaarts Rosanne, Pijnenburg Yolande A. L., de Haan Rob J., de Visser Marianne, Schmand Ben A. The cognitive profile of behavioural variant FTD and its similarities with ALS: a systematic review and meta-analysis Journal of neurology, neurosurgery, and psychiatry 2018;89:995-1002 [PubMed]
  • Theunissen Tom E. J., Nguyen Minh, Kamps Rick, Hendrickx Alexandra T., Sallevelt Suzanne C. E. H., Gottschalk Ralph W. H., Calis Chantal M., Stassen Alphons P. M., de Koning Bart, Mulder-den Hartog Elvira N. M., Schoonderwoerd Kees, Fuchs Sabine A., Hilhorst-Hofstee Yvonne, de Visser Marianne, Vanoevelen Jo, Szklarczyk Radek, Gerards Mike, de Coo Irenaeus F. M., Hellebrekers Debby M. E. I., Smeets Hubert J. M. Whole exome sequencing is the preferred strategy to identify the genetic defect in patients with a probable or possible mitochondrial cause Frontiers in genetics 2018;9 (OCT) [PubMed]

2017

  • 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, García-de la Torre Ignacio, Song Yeong Wook, Villa Luca, Rinaldi Mariangela, Rockette Howard, Lachenbruch Peter A., Miller Frederick W., Vencovsky Jiri 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 Annals of the rheumatic diseases 2017;76 (5):792-801 [PubMed]
  • 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, García-de la Torre Ignacio, Song Yeong Wook, Villa Luca, Rinaldi Mariangela, Rockette Howard, Lachenbruch Peter A., Miller Frederick W., Vencovsky Jiri, Pistorio Angela, Huber Adam M., Hansen Paul, Christopher-Stine Lisa, Criscione-Schreiber Lisa, Crofford Leslie, Cronin Mary E., Dankó Katalin, Gordon Patrick, Hengstman Gerald, Marder Galina, McHugh Neil, Schiopu Elena, Selva-O'Callaghan Albert, Wook Song Yeong, Wolfe Gil, Wortmann Robert, Gourley Mark, Lundberg Ingrid, Plotz Paul, Ascherman Dana, Barohn Richard 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 Arthritis & rheumatology (Hoboken, N.J.) 2017;69 (5):898-910 [PubMed]
  • 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. 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups Annals of the rheumatic diseases 2017;76 (12):1955-1964 [PubMed]
  • Lundberg Ingrid E., Tjärnlund Anna, Bottai Matteo, Werth Victoria P., Pilkington Clarissa, de Visser Marianne, 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., Garcia-de la Torre Ignacio, 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. 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups Arthritis & rheumatology (Hoboken, N.J.) 2017;69 (12):2271-2282 [PubMed]
  • Sommerville Ewen W., Ng Yi Shiau, Alston Charlotte L., Dallabona Cristina, Gilberti Micol, He Langping, 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, McFarland Robert, Turnbull Douglass M., Donnini Claudia, Taylor Robert W., Gorman Gráinne S. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy JAMA Neurology 2017;74 (6):686-694 [PubMed]
  • Oudeman Jos Diffusion tensor imaging: A diagnostic tool for neuromuscular conditions 2017. 190p. ISBN 9789461828309. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., Maas M.; Co-supervisors: Verhamme C., Strijkers G. J., Nederveen A. J.)
  • Bottai Matteo, Tjärnlund Anna, Santoni Giola, Werth Victoria P., Pilkington Clarissa, de Visser Marianne, Alfredsson Lars, Amato Anthony A., Barohn Richard J., Liang Matthew H., Singh Jasvinder A., Aggarwal Rohit, Arnardottir Snjolaug, Chinoy Hector, Cooper Robert G., Danko Katalin, Dimachkie Mazen M., Feldman Brian M., García-de la Torre Ignacio, Gordon Patrick, Hayashi Taichi, Katz James D., Kohsaka Hitoshi, Lachenbruch Peter A., Lang Bianca A., Li Yuhui, Oddis Chester V., Olesinka Marzena, Reed Ann M., Rutkowska-Sak Lidia, Sanner Helga, Selva-O'Callaghan Albert, Wook Song Yeong, Vencovsky Jiri, Ytterberg Steven R., Miller Frederick W., Rider Lisa G., Lundberg Ingrid E., Amoruso Maria, Andersson Helena, Bayat Nastaran, Bhansing Kavish J., Bucher Sara, Champbell Richard, Charles-Schoeman Christina, Chaudhry Vinay, Christopher-Stine Lisa, Chung Lorinda, Cronin Mary, Curry Theresa EULAR/ACR classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups: a methodology report RMD open 2017;3 (2):e000507 [PubMed]
  • Oliver David, de Visser Marianne, Voltz Raymond Palliative care in neurology Lancet neurology 2017;16 (11):868 [PubMed]
  • de Visser Marianne, Oliver David J. Palliative care in neuromuscular diseases Current opinion in neurology 2017;30 (6):686-691 [PubMed]
  • van Paassen Barbara W., Bronk Marieke, Verhamme Camiel, van Ruissen Fred, Baas Frank, van Spaendonck-Zwarts Karin Y., de Visser Marianne Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations Journal of the peripheral nervous system 2017;22 (4):464-467 [PubMed]

2016

  • Benveniste Olivier, Rider Lisa G., Aggarwal R., Allenbach Y., Benveniste O., de Bleecker J. L., de Groot I., Devilliers H., Hilton-Jones D., Hogrel J.-Y., Lundberg I. E., Mammen A. L., Oakley N. N., Oddis C., Padberg G., Ponce D., Rider L. G., Rose M. R., Sanner H., Selva-O'Callaghan A., de Visser M., Wells A., Werth V. P. 213th ENMC International Workshop: Outcome measures and clinical trial readiness in idiopathic inflammatory myopathies, Heemskerk, The Netherlands, 18-20 September 2015 Neuromuscular disorders 2016;26 (8):523-534 [PubMed]
  • Oliver D. J., Borasio G. D., Caraceni A., de Visser M., Grisold W., Lorenzl S., Veronese S., Voltz R. A consensus review on the development of palliative care for patients with chronic and progressive neurological disease European journal of neurology 2016;23 (1):30-38 [PubMed]
  • Draak T. H. P., Gorson K. C., Vanhoutte E. K., van Nes S. I., van Doorn P. A., Cornblath D. R., van den Berg L. H., Faber C. G., Merkies I. S. J., Barreira A. A., Bennett D., van den Bergh P. Y. K., Bombelli F., Bril V., Campanella A., Cats E. A., Costa R., Devigili G., Franques J., Gallia F., Hadden R. D., Hahn A. F., Hughes R. A. C., Illa I., Katzberg H., van der Kooi A. J., Lauria G., Léger J.-M., Lewis R. A., Lunn M. P. T., Nobile-Orazio E., Notermans N. C., Padua L., Ludo van der Pol W., Pouget J., Querol L., Raaphorst J., Reilly M. M., van Schaik I. N., de Visser M. Correlation of the patient's reported outcome Inflammatory-RODS with an objective metric in immune-mediated neuropathies European journal of neurology 2016;23 (7):1248-1253 [PubMed]
  • Straathof Chiara S. M., van Heusden Dave, Ippel Pieternella F., Post Jan G., Voermans Nicol C., de Visser Marianne, Brusse Esther, van den Bergen Janneke C., van der Kooi Anneke J., Verschuuren Jan J. G. M., Ginjaar Hendrika B. Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples Muscle & nerve 2016;53 (1):44-48 [PubMed]
  • Draak Thomas H. P., Gorson Kenneth C., Vanhoutte Els K., van Nes Sonja I., van Doorn Pieter A., Cornblath David R., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Bombelli F., Bril V., Campanella A., Cats E. A., Cornblath D. R., Costa R., de Visser M., Devigili G., van Doorn P. A., Faber C. G., Franques J., Gallia F., Gorson K. C., Hadden R. D., Hahn A. F., Hughes R. A. C., Illa I., Katzberg H., Lauria G., Léger J.-M., Lewis R. A., Lunn M. P. T., Merkies I. S. J., Nobile-Orazio E., Notermans N. C., Padua L., Pouget J., Querol L., Raaphorst J., Reilly M. M., van den Berg L. H., van den Bergh P. Y. K., van der Kooi A. J., van der Pol W. L., van Nes S. I., van Schaik I. N. Does ability to walk reflect general functionality in inflammatory neuropathies? Journal of the peripheral nervous system 2016;21 (2):74-81 [PubMed]
  • van Rheenen Wouter, Shatunov Aleksey, Dekker Annelot M., McLaughlin Russell L., Diekstra Frank P., Pulit Sara L., van der Spek Rick A. A., Võsa Urmo, de Jong Simone, Robinson Matthew R., Yang Jian, Fogh Isabella, van Doormaal Perry Tc, Tazelaar Gijs H. P., Koppers Max, Blokhuis Anna M., Sproviero William, Jones Ashley R., Kenna Kevin P., van Eijk Kristel R., Harschnitz Oliver, Schellevis Raymond D., Brands William J., Medic Jelena, Menelaou Androniki, Vajda Alice, Ticozzi Nicola, Lin Kuang, Rogelj Boris, Vrabec Katarina, Ravnik-Glavač Metka, Koritnik Blaž, Zidar Janez, Leonardis Lea, Grošelj Leja Dolenc, Millecamps Stéphanie, Salachas François, Meininger Vincent, de Carvalho Mamede, Pinto Susana, Mora Jesus S., Rojas-García Ricardo, Polak Meraida, Chandran Siddharthan, Colville Shuna, Swingler Robert, Morrison Karen E., Shaw Pamela J., Hardy John, Orrell Richard W., Pittman Alan, Sidle Katie, Fratta Pietro, Malaspina Andrea, Topp Simon, Petri Susanne, Abdulla Susanne, Drepper Carsten, Sendtner Michael, Meyer Thomas, Ophoff Roel A., Staats Kim A., Wiedau-Pazos Martina, Lomen-Hoerth Catherine, van Deerlin Vivianna M., Trojanowski John Q., Elman Lauren, McCluskey Leo, Basak A. Nazli, Tunca Ceren, Hamzeiy Hamid, Parman Yesim, Meitinger Thomas, Lichtner Peter, Radivojkov-Blagojevic Milena, Andres Christian R., Maurel Cindy, Bensimon Gilbert, Landwehrmeyer Bernhard, Brice Alexis, Payan Christine A. M., Saker-Delye Safaa, Dürr Alexandra, Wood Nicholas W., Tittmann Lukas, Lieb Wolfgang, Franke Andre, Rietschel Marcella, Cichon Sven, Nöthen Markus M., Amouyel Philippe, Tzourio Christophe, Dartigues Jean-François, Uitterlinden Andre G., Rivadeneira Fernando, Estrada Karol, Hofman Albert, Curtis Charles, Blauw Hylke M., van der Kooi Anneke J., de Visser Marianne, Goris An, Weber Markus, Shaw Christopher E., Smith Bradley N., Pansarasa Orietta, Cereda Cristina, del Bo Roberto, Comi Giacomo P., D'alfonso Sandra, Bertolin Cinzia, Sorarù Gianni, Mazzini Letizia, Pensato Viviana, Gellera Cinzia, Tiloca Cinzia, Ratti Antonia, Calvo Andrea, Moglia Cristina, Brunetti Maura, Arcuti Simona, Capozzo Rosa, Zecca Chiara, Lunetta Christian, Penco Silvana, Riva Nilo, Padovani Alessandro, Filosto Massimiliano, Muller Bernard, Stuit Robbert Jan, Blair Ian, Zhang Katharine, McCann Emily P., Fifita Jennifer A., Nicholson Garth A., Rowe Dominic B., Pamphlett Roger, Kiernan Matthew C., Grosskreutz Julian, Witte Otto W., Ringer Thomas, Prell Tino, Stubendorff Beatrice, Kurth Ingo, Hübner Christian A., Leigh P. Nigel, Casale Federico, Chio Adriano, Beghi Ettore, Pupillo Elisabetta, Tortelli Rosanna, Logroscino Giancarlo, Powell John, Ludolph Albert C., Weishaupt Jochen H., Robberecht Wim, van Damme Philip, Franke Lude, Pers Tune H., Brown Robert H., Glass Jonathan D., Landers John E., Hardiman Orla, Andersen Peter M., Corcia Philippe, Vourc'h Patrick, Silani Vincenzo, Wray Naomi R., Visscher Peter M., de Bakker Paul I. W., van Es Michael A., Pasterkamp R. Jeroen, Lewis Cathryn M., Breen Gerome, Al-Chalabi Ammar, van den Berg Leonard H., Veldink Jan H. Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis Nature genetics 2016;48 (9):1043-1048 [PubMed]
  • Dekker Annelot M., Seelen Meinie, van Doormaal Perry T. C., van Rheenen Wouter, Bothof Reinoud J. P., van Riessen Tim, Brands William J., van der Kooi Anneke J., de Visser Marianne, Voermans Nicol C., Pasterkamp R. Jeroen, Veldink Jan H., van den Berg Leonard H., van Es Michael A. Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers Neurobiology of aging 2016;39:220.e9-220.15 [PubMed]
  • Price Mark A., Barghout Victoria, Benveniste Olivier, Christopher-Stine Lisa, Corbett Alastair, de Visser Marianne, Hilton-Jones David, Kissel John T., Lloyd Thomas E., Lundberg Ingrid E., Mastaglia Francis, Mozaffar Tahseen, Needham Merrilee, Schmidt Jens, Sivakumar Kumaraswamy, DeMuro Carla, Tseng Brian S. Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia, Europe and the USA Journal of neuromuscular diseases 2016;3 (1):67-75 [PubMed]
  • ten Dam L., van der Kooi A. J., Verhamme C., Wattjes M. P., de Visser M. Muscle imaging in inherited and acquired muscle diseases European journal of neurology 2016;23 (4):688-703 [PubMed]
  • Huijbers Maartje G., Niks Erik H., Klooster Rinse, de Visser Marianne, Kuks Jan B., Veldink Jan H., Klarenbeek Pim, van Damme Philip, de Baets Marc H., van der Maarel Silvère M., van den Berg Leonard H., Verschuuren Jan J. Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis Neuromuscular disorders 2016;26 (6):350-353 [PubMed]
  • Kenna Kevin P., van Doormaal Perry T. C., Dekker Annelot M., Ticozzi Nicola, Kenna Brendan J., Diekstra Frank P., van Rheenen Wouter, van Eijk Kristel R., Jones Ashley R., Keagle Pamela, Shatunov Aleksey, Sproviero William, Smith Bradley N., van Es Michael A., Topp Simon D., Kenna Aoife, Miller Jack W., Fallini Claudia, Tiloca Cinzia, McLaughlin Russell L., Vance Caroline, Troakes Claire, Colombrita Claudia, Mora Gabriele, Calvo Andrea, Verde Federico, Al-Sarraj Safa, King Andrew, Calini Daniela, de Belleroche Jacqueline, Baas Frank, van der Kooi Anneke J., de Visser Marianne, ten Asbroek Anneloor L. M. A., Sapp Peter C., McKenna-Yasek Diane, Polak Meraida, Asress Seneshaw, Muñoz-Blanco José Luis, Strom Tim M., Meitinger Thomas, Morrison Karen E., Lauria Giuseppe, Williams Kelly L., Leigh P. Nigel, Nicholson Garth A., Blair Ian P., Leblond Claire S., Dion Patrick A., Rouleau Guy A. NEK1 variants confer susceptibility to amyotrophic lateral sclerosis Nature genetics 2016;48 (9):1037-1042 [PubMed]
  • Koopman Fieke S., Voorn Eric L., Beelen Anita, Bleijenberg Gijs, de Visser Marianne, Brehm Merel A., Nollet Frans No Reduction of Severe Fatigue in Patients With Postpolio Syndrome by Exercise Therapy or Cognitive Behavioral Therapy: Results of an RCT Neurorehabilitation and neural repair 2016;30 (5):402-410 [PubMed]
  • Schipper L. J., Raaphorst J., Aronica E., Baas F., de Haan R., de Visser M., Troost D. Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review Neuropathology and applied neurobiology 2016;42 (6):547-560 [PubMed]
  • Beeldman Emma, Raaphorst Joost, Klein Twennaar Michelle, de Visser Marianne, Schmand Ben A., de Haan Rob J. The cognitive profile of ALS: a systematic review and meta-analysis update Journal of neurology, neurosurgery, and psychiatry 2016;87 (6):611-619 [PubMed]
  • Govaarts Rosanne, Beeldman Emma, Kampelmacher Mike J., van Tol Marie-Jose, van den Berg Leonard H., van der Kooi Anneke J., Wijkstra Peter J., Zijnen-Suyker Marianne, Cobben Nicolle A. M., Schmand Ben A., de Haan Rob J., de Visser Marianne, Raaphorst Joost The frontotemporal syndrome of ALS is associated with poor survival Journal of neurology 2016;263 (12):2476-2483 [PubMed]
  • Koopman Fieke S. Treating fatigue in post-polio syndrome 2016. 268p. ISBN 9789462333574. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Nollet F., de Visser M.; Co-supervisors: Beelen J. A. J. M., Brehm M. A.)

2015

  • de Bleecker Jan L., de Paepe Boel, Aronica Eleonora, de Visser Marianne, Amato Anthony, Benveniste Olivier, de Bleecker Jan, de Boer Onno, Dimachkie Mazen, Gherardi Romain, Goebel Hans Hilmar, Hilton-Jones David, Holton Janice, Lundberg Ingrid E., Mammen Andrew, Mastaglia Frank, Nishino Ichizo, Rushing Elisabeth, Schroder Henrik Daa, Selcen Duygu, Stenzel Werner 205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands Neuromuscular disorders 2015;25 (3):268-272 [PubMed]
  • Beeldman Emma, van der Kooi Anneke J., de Visser Marianne, van Maarle Merel C., van Ruissen Fred, Baas Frank A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations Amyotrophic lateral sclerosis and frontotemporal degeneration 2015;16 (5-6):410-411 [PubMed]
  • Raaphorst Joost Cognition and behavior in motor neuron disease 2015. 225p. ISBN 9789462951808. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., Schmand B. A.; Co-supervisor: van Tol M. J.)
  • van de Vlekkert Janneke, Maas Mario, Hoogendijk Jessica E., de Visser Marianne, van Schaik Ivo N. Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy Muscle & nerve 2015;51 (2):253-258 [PubMed]
  • Draak Thomas H. P., Vanhoutte Els K., van Nes Sonja I., Gorson Kenneth C., van der Pol W.-Ludo, Notermans Nicolette C., Nobile-Orazio Eduardo, Lewis Richard A., Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., Hahn Angelika F., van den Berg Leonard H., van Doorn Pieter A., Cornblath David R., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G. Comparing the NIS vs. MRC and INCAT sensory scale through Rasch analyses Journal of the peripheral nervous system 2015;20 (3):277-288 [PubMed]
  • 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. Effect of Presymptomatic Body Mass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis JAMA Neurology 2015;72 (10):1155-1162 [PubMed]
  • Draak Thomas H. P., Pruppers Mariëlle H. J., van Nes Sonja I., Vanhoutte Els K., Bakkers Mayienne, Gorson Kenneth C., van der Pol W.-Ludo, Lewis Richard A., Notermans Nicolette C., Nobile-Orazio Eduardo, Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., van den Berg Leonard H., van Doorn Pieter A., Cornblath David R., Hahn Angelika F., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G. Grip strength comparison in immune-mediated neuropathies: Vigorimeter vs. Jamar Journal of the peripheral nervous system 2015;20 (3):269-276 [PubMed]
  • van de Vlekkert Janneke Idiopathic inflammatory myopathies: diagnosis, treatment and outcome 2015. 147p. ISBN 9789462951495. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., de Haan R. J.; Co-supervisor: Hoogendijk J. E.)
  • Vanhoutte Els K., Draak Thomas H. P., Gorson Kenneth C., van Nes Sonja I., Hoeijmakers Janneke G. J., van der Pol W.-Ludo, Notermans Nicolette C., Lewis Richard A., Nobile-Orazio Eduardo, Léger Jean-Marc, van den Bergh Peter Y. K., Lauria Giuseppe, Bril Vera, Katzberg Hans, Lunn Michael P. T., Pouget Jean, van der Kooi Anneke J., Hahn Angelika F., van Doorn Pieter A., Cornblath David R., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F. Impairment measures versus inflammatory RODS in GBS and CIDP: a responsiveness comparison Journal of the peripheral nervous system 2015;20 (3):289-295 [PubMed]
  • Van de Vlekkert J., Hoogendijk J. E., de Visser M. Myositis with endomysial cell invasion indicates inclusion body myositis even if other criteria are not fulfilled Neuromuscular disorders 2015;25 (6):451-456 [PubMed]
  • Scoto Mariacristina, Rossor Alexander M., Harms Matthew B., Cirak Sebahattin, Calissano Mattia, Robb Stephanie, Manzur Adnan Y., Martínez Arroyo Amaia, Rodriguez Sanz Aida, Mansour Sahar, Fallon Penny, Hadjikoumi Irene, Klein Andrea, Yang Michele, de Visser Marianne, Overweg-Plandsoen W. C. G. Truus, Baas Frank, Taylor J. Paul, Benatar Michael, Connolly Anne M., Al-Lozi Muhammad T., Nixon John, de Goede Christian G. E. L., Foley A. Reghan, Mcwilliam Catherine, Pitt Matthew, Sewry Caroline, Phadke Rahul, Hafezparast Majid, Chong W. K. Kling, Mercuri Eugenio, Baloh Robert H., Reilly Mary M., Muntoni Francesco Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy Neurology 2015;84 (7):668-679 [PubMed]
  • Pruppers Mariëlle H. J., Draak Thomas H. P., Vanhoutte Els K., van der Pol W.-Ludo, Gorson Kenneth C., Léger Jean-Marc, Nobile-Orazio Eduardo, Lewis Richard A., van den Berg Leonard H., Faber Catharina G., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., van der Kooi A. J., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G., Nobile-Orazio E., Padua L., Cornblath D. R., Gorson K. C., Lewis R. A., Illa I., Querol L., van Nes S. I. Outcome measures in MMN revisited: further improvement needed Journal of the peripheral nervous system 2015;20 (3):306-318 [PubMed]
  • Raaphorst J., van Tol M. J., de Visser M., van der Kooi A. J., Majoie C. B., van den Berg L. H., Schmand B., Veltman D. J. Prose memory impairment in amyotrophic lateral sclerosis patients is related to hippocampus volume European journal of neurology 2015;22 (3):547-554 [PubMed]
  • Vanhoutte Els K., Faber Catharina G., van Nes Sonja I., Cats Elisabeth A., van der Pol W.-Ludo, Gorson Kenneth C., van Doorn Pieter A., Cornblath David R., van den Berg Leonard H., Merkies Ingemar S. J., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., van der Kooi A. J., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G., Nobile-Orazio E., Padua L., Cornblath D. R., Gorson K. C., Lewis R. A., Illa I., Querol L., van Nes S. I. Rasch-built Overall Disability Scale for Multifocal motor neuropathy (MMN-RODS(C)) Journal of the peripheral nervous system 2015;20 (3):296-305 [PubMed]
  • Vanhoutte Els K., Hermans Mieke C. E., Faber Catharina G., Gorson Kenneth C., Merkies Ingemar S. J., Thonnard Jean-L., Barreira A. A., Bennett D., Hadden R. D., Hughes R. A. C., Lunn M. P. T., Reilly M. M., van den Berg L. H., van Doorn P. A., Faber C. G., van der Kooi A. J., Merkies I. S. J., Notermans N. C., Raaphorts J., van Schaik I. N., de Visser M., Cats E. A., van den Bergh P. Y. K., Bombelli F., Costa R., Franques J., Léger J.-M., Pouget J., Bril V., Hahn A. F., Katzberg H., Campanella A., Devigili G., Gallia F., Lauria G., Nobile-Orazio E., Padua L., Cornblath D. R., Gorson K. C., Lewis R. A., Illa I., Querol L., van Nes S. I. Rasch-ionale for neurologists Journal of the peripheral nervous system 2015;20 (3):260-268 [PubMed]
  • Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy Brain 2015;138 (2):e326 [PubMed]
  • Jaeger Bregje, de Visser Marianne, Aronica Eleonora, van der Kooi Anneke J. Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies Neuromuscular disorders 2015;25 (6):457-460 [PubMed]
  • Snoeck M., van Engelen B. G. M., Küsters B., Lammens M., Meijer R., Molenaar J. P. F., Raaphorst J., Verschuuren-Bemelmans C. C., Straathof C. S. M., Sie L. T. L., de Coo I. F., van der Pol W. L., de Visser M., Scheffer H., Treves S., Jungbluth H., Voermans N. C., Kamsteeg E.-J. RYR1-related myopathies: a wide spectrum of phenotypes throughout life European journal of neurology 2015;22 (7):1094-1112 [PubMed]
  • Heslop Emma, Csimma Cristina, Straub Volker, McCall John, Nagaraju Kanneboyina, Wagner Kathryn R., Caizergues Didier, Korinthenberg Rudolf, Flanigan Kevin M., Kaufmann Petra, McNeil Elizabeth, Mendell Jerry, Hesterlee Sharon, Wells Dominic J., Bushby Kate, McNeil Dawn Elizabeth, Allen Hugh, Bourke John, Burghes Arthur, Buyse Gunnar, Catlin Nick, Clemens Paula, Cnaan Avital, Comi Giacomo, Connor Edward, de Luca Annamaria, de Montleau Béatrice, de Visser Marianne, Day Simon, Dittrich Sven, Dubrosky Alberto, Eagle Michelle, Finkel Richard, Fishbeck Kenneth, Furlong Patricia, Grounds Miranda, Hauschke Dieter, Hoffman Eric, Irwin Joseph, Jarecki Jill, Kelly Michael, Laforêt Pascal, Lovering Richard, Larkindale Jane, Mayer Henry, McDonald Robert, McNally Elizabeth, Miller Debra, North Kathryn, Ouillade Marie-Christine The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development Orphanet journal of rare diseases 2015;10:49 [PubMed]
  • Koopman Fieke Sophia, Beelen Anita, Gilhus Nils Erik, de Visser Marianne, Nollet Frans Treatment for postpolio syndrome Cochrane database of systematic reviews (Online) 2015;2015 (5):CD007818 [PubMed]
  • Körver-Keularts I. M. L. W., de Visser M., Bakker H. D., Wanders R. J. A., Vansenne F., Scholte H. R., Dorland L., Nicolaes G. A. F., Spaapen L. M. J., Smeets H. J. M., Hendrickx A. T. M., van den Bosch B. J. C. Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy JIMD reports 2015;22:39-45 [PubMed]

2014

  • Schade van Westrum Steven M., Dekker Lukas R. C., de Voogt Willem G., Wilde Arthur A. M., Ginjaar Ieke B., de Visser Marianne, van der Kooi Anneke J. Cardiac involvement in Dutch patients with sarcoglycanopathy: a cross-sectional cohort and follow-up study Muscle & nerve 2014;50 (6):909-913 [PubMed]
  • van den Bergen J. C., Schade van Westrum S. M., Dekker L., van der Kooi A. J., de Visser M., Wokke B. H. A., Straathof C. S., Hulsker M. A., Aartsma-Rus A., Verschuuren J. J., Ginjaar H. B. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy Journal of neurology, neurosurgery, and psychiatry 2014;85 (1):92-98 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., Rövekamp Fleur, Linssen Wim H. J. P., de Visser Marianne Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies Neuromuscular disorders 2014;24 (12):1097-1102 [PubMed]
  • van der Kooi A. J., de Visser M. Idiopathic inflammatory myopathies Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn 2014;119:495-512 [PubMed]
  • van de Vlekkert Janneke, Hoogendijk Jessica E., de Visser Marianne Long-term follow-up of 62 patients with myositis Journal of neurology 2014;261 (5):992-998 [PubMed]
  • Marttila Minttu, Lehtokari Vilma-Lotta, Marston Steven, Nyman Tuula A., Barnerias Christine, Beggs Alan H., Bertini Enrico, Ceyhan-Birsoy Ozge, Cintas Pascal, Gerard Marion, Gilbert-Dussardier Brigitte, Hogue Jacob S., Longman Cheryl, Eymard Bruno, Frydman Moshe, Kang Peter B., Klinge Lars, Kolski Hanna, Lochmüller Hans, Magy Laurent, Manel Véronique, Mayer Michèle, Mercuri Eugenio, North Kathryn N., Peudenier-Robert Sylviane, Pihko Helena, Probst Frank J., Reisin Ricardo, Stewart Willie, Taratuto Ana Lia, de Visser Marianne, Wilichowski Ekkehard, Winer John, Nowak Kristen, Laing Nigel G., Winder Tom L., Monnier Nicole, Clarke Nigel F., Pelin Katarina, Grönholm Mikaela, Wallgren-Pettersson Carina Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies Human mutation 2014;35 (7):779-790 [PubMed]
  • Seelen Meinie, Visser Anne E., Overste Daniel J., Kim Hong J., Palud A., Wong Tsz H., van Swieten John C., Scheltens Philip, Voermans Nicol C., Baas Frank, de Jong J. M. B. V., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., Taylor J. Paul, van Es Michael A., van den Berg Leonard H. No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy Neurobiology of aging 2014;35 (8):1956.e9-1956.e11 [PubMed]
  • van Paassen Barbara W., van der Kooi Anneke J., van Spaendonck-Zwarts Karin Y., Verhamme Camiel, Baas Frank, de Visser Marianne PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies Orphanet journal of rare diseases 2014;9 (1):38 [PubMed]
  • Raaphorst Joost, van Tol Marie-José, Groot Paul F. C., Altena Ellemarije, van der Werf Ysbrand D., Majoie Charles B., van der Kooi Anneke J., van den Berg Leonard H., Schmand Ben, de Visser Marianne, Veltman Dick J. Prefrontal involvement related to cognitive impairment in progressive muscular atrophy Neurology 2014;83 (9):818-825 [PubMed]
  • Seelen Meinie, van Doormaal Perry T. C., Visser Anne E., Huisman Mark H. B., Roozekrans Margot H. J., de Jong Sonja W., van der Kooi Anneke J., de Visser Marianne, Voermans Nicol C., Veldink Jan H., van den Berg Leonard H. Prior medical conditions and the risk of amyotrophic lateral sclerosis Journal of neurology 2014;261 (10):1949-1956 [PubMed]
  • Seelen Meinie, Vermeulen Roel C. H., van Dillen Levien S., van der Kooi Anneke J., Huss Anke, de Visser Marianne, van den Berg Leonard H., Veldink Jan H. Residential exposure to extremely low frequency electromagnetic fields and the risk of ALS Neurology 2014;83 (19):1767-1769 [PubMed]
  • Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., de Visser M. Rhabdomyolysis: review of the literature Neuromuscular disorders 2014;24 (8):651-659 [PubMed]
  • Andersen Peter Høngaard, Moscicki Richard, Sahakian Barbara, Quirion Rémi, Krishnan Ranga, Race Tim, Phillips Anthony, Abe Michikazu, Baker Mary, Chlebus Magda, Connolly Enda, Craven Audrey, de Visser Marianne, Dean Brian, Dolmetsch Ricardo, Duffy Ciaran, Falkai Peter, Fontoura Paulo, Hamburg Karin, Higuchi Teruhiko, Insel Tom, Jones Declan, Kapur Shitij, Kasper Siegfried, Kato Tadafumi, Kimura Tatsuya, Kirkpatrick Peter, Klingmann Ingrid, Marsling Stine Hove, Minchin Michael, Möller Hans-Jürgen, Mosciki Richard, Nakabayashi Tetsuo, Ni Keni, Owa Takashi, Ozaki Norio, Simic Zoran, Stolk Pieter, Suhara Tetsuya, Sulcova Alexandra, Wilkerson Bill, Yamada Masaki, Yamawaki Shigeto, Yamori Takao, Zohar Joseph, Zvartau-Hind Marina Securing the future of drug discovery for central nervous system disorders Nature reviews. Drug discovery 2014;13 (12):871-872 [PubMed]
  • Radke Josefine, Pehl Debora, Aronica Eleonora, Schonenberg-Meinema Dieneke, Schneider Udo, Heppner Frank L., de Visser Marianne, Goebel Hans H., Stenzel Werner The lymphoid follicle variant of dermatomyositis Neurology® neuroimmunology & neuroinflammation 2014;1 (2):e19 [PubMed]
  • Beeldman Emma, Jaeger Bregje, Raaphorst Joost, Seelen Meinie, Veldink Jan, van den Berg Leonard, de Visser Marianne, Schmand Ben The verbal fluency index: Dutch normative data for cognitive testing in ALS Amyotrophic lateral sclerosis and frontotemporal degeneration 2014;15 (5-6):388-391 [PubMed]
  • Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M. A., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan X-linked adrenoleukodystrophy in women: a cross-sectional cohort study Brain 2014;137 (Part 3):693-706 [PubMed]

2013

  • Rose M. R., Amato Anthony A., van Engelen Baziel, Tseng Brian, Buccirechtweg Christina, Jones David Hilton, Radcliffe John, Seedat Farah, Lundberg Ingrid E., de Bleecker Jan, Schmidt Jens, Vissing John, Lowes Linda, Dewar Liz, Walter Maggie C., de Visser Marianne, Taylor Martin, Needham Merrilee, Hanna Michael, Rose Michael, Benveniste Olivier, Leff Richard, Ford Chadds, Sejersen Thomas, Hindle Tony, Badrising Umesh, Tawil Rabi 188th ENMC International Workshop: Inclusion Body Myositis, 2-4 December 2011, Naarden, The Netherlands Neuromuscular disorders 2013;23 (12):1044-1055 [PubMed]
  • de Bleecker Jan L., Lundberg Ingrid E., de Visser Marianne, Amato Anthony, Benveniste Olivier, Christopher-Stine Lisa, de Bleecker Jan, de Paepe Boel, Dimachkie Mazen, Dimitri Dalia, Gallardo Eduard, Gherardi Romain, Goebel Hans Hilmar, Gordon Patrick, Holton Janice, Mammen Andrew, Nennesmo Inger, Pestronk Alan, Piron Joke, Stenzel Werner, Udd Bjarne, Wedderburn Lucy 193rd ENMC International workshop Pathology diagnosis of idiopathic inflammatory myopathies 30 November - 2 December 2012, Naarden, The Netherlands Neuromuscular disorders 2013;23 (11):945-951 [PubMed]
  • Vanhoutte Els K., Faber Catharina G., Merkies Ingemar S. J., van den Bergh P., Bril V., van Doorn P. A., Faber C. G., Gorson K., Hahn A., Hughes R. A. C., van der Kooi A., Lauria G., Leger J. M., Lewis R., Lunn M., Merkies I. S. J., Nobile-Orazio E., Notermans N. C., Querol L., van Schaik I., Zollinger Daniel, Zitterstein Annelies, van Engelen Baziel, Barreira A. A., Bennett D., van den Berg P., Cornblath D. R., Devigili G., Hadden R. D., Illa I., Padua L., Pouget J., Reilly M. M., de Visser M., van Nes S. I., Walk D. 196th ENMC international workshop: Outcome measures in inflammatory peripheral neuropathies 8-10 February 2013, Naarden, The Netherlands Neuromuscular disorders 2013;23 (11):924-933 [PubMed]
  • van der Kooi Anneke J., ten Dam Leroy, Frankhuizen Wendy S., Straathof Chiara S. M., van Doorn Pieter A., de Visser Marianne, Ginjaar Ieke B. ANO5 mutations in the Dutch limb girdle muscular dystrophy population Neuromuscular disorders 2013;23 (6):456-460 [PubMed]
  • Løseth Sissel, Voermans Nicol C., Torbergsen Torberg, Lillis Sue, Jonsrud Christoffer, Lindal Sigurd, Kamsteeg Erik-Jan, Lammens Martin, Broman Marcus, Dekomien Gabriele, Maddison Paul, Muntoni Francesco, Sewry Caroline, Radunovic Aleksandar, de Visser Marianne, Straub Volker, van Engelen Baziel, Jungbluth Heinz A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene Journal of neurology 2013;260 (6):1504-1510 [PubMed]
  • Schade van Westrum Steven, Dekker Lukas, de Haan Rob, Endert Erik, Ginjaar Ieke, de Visser Marianne, van der Kooi Anneke Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers BMC neurology 2013;13:88 [PubMed]
  • Stalpers Xenia L., Verrips Aad, Poll-The Bwee Tien, Cobben Jan-Maarten, Snoeck Irina N., de Coo Irenaeus F. M., Brooks Alice, Bulk Saskia, Gooskens Rob, Fock Annemarie, Verschuuren-Bemelmans Corien, Sinke Richard J., de Visser Marianne, Lemmink Henny H. Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands Neuromuscular disorders 2013;23 (6):461-468 [PubMed]
  • Engelen Marc, Ofman Rob, Dijkgraaf Marcel, van Geel Bjorn, de Visser Marianne, Wanders Ronald, Poll-The Bwee Tien, Kemp Stephan Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit" Clinical neurology and neurosurgery 2013;115 (11):2401-2402 [PubMed]
  • Voermans N. C., Jungbluth H., Aronica E., Monnier N., Lunardi J., Swash M., de Visser M. Congenital myopathy with focal loss of cross-striations revisited Neuromuscular disorders 2013;23 (2):160-164 [PubMed]
  • Cudkowicz Merit E., van den Berg Leonard H., Shefner Jeremy M., Mitsumoto Hiroshi, Mora Jesus S., Ludolph Albert, Hardiman Orla, Bozik Michael E., Ingersoll Evan W., Archibald Donald, Meyers Adam L., Dong Yingwen, Farwell Wildon R., Kerr Douglas A., Henderson R., Kiernan M., Mathers S., Vucic S., de Bleecker J., Robberecht W., Briemberg H., Genge A., Korngut L., Matte G., Shoesmith C., Zinman L., Camu W., Desnuelle C., Destee A., Meininger V., Pouget J., Grehl T., Grosskreutz J., Ludolph A., Meyer T., Petri S., Hardiman O., de Visser M., Voermans N., van den Berg L., de Rivera F. J. R., Gamez J., Carbonell J. G., Pardina J. S. Mora, Povedano M., Persson L., Ronnevi L.-O., Al-Chalabi A., Morrison K., Shaw P. Dexpramipexole versus placebo for patients with amyotrophic lateral sclerosis (EMPOWER): a randomised, double-blind, phase 3 trial Lancet neurology 2013;12 (11):1059-1067 [PubMed]
  • Kyriakides T., Angelini C., Schaefer J., Mongini T., Siciliano G., Sacconi S., Joseph J., Burgunder J. M., Bindoff L. A., Vissing J., de Visser M., Hilton-Jones D. EFNS review on the role of muscle biopsy in the investigation of myalgia European journal of neurology 2013;20 (7):997-1005 [PubMed]
  • de Jong Sonja, Huisman Mark, Sutedja Nadia, van der Kooi Anneke, de Visser Marianne, Schelhaas Jurgen, van der Schouw Yvonne, Veldink Jan, van den Berg Leonard Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis Journal of neurology 2013;260 (2):507-512 [PubMed]
  • van Rheenen Wouter, Diekstra Frank P., van Doormaal Perry T. C., Seelen Meinie, Kenna Kevin, McLaughlin Russell, Shatunov Aleksey, Czell David, van Es Michael A., van Vught Paul W. J., van Damme Philip, Smith Bradley N., Waibel Stefan, Schelhaas H. Jurgen, van der Kooi Anneke J., de Visser Marianne, Weber Markus, Robberecht Wim, Hardiman Orla, Shaw Pamela J., Shaw Christopher E., Morrison Karen E., Al-Chalabi Ammar, Andersen Peter M., Ludolph Albert C., Veldink Jan H., van den Berg Leonard H. H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis Neurobiology of aging 2013;34 (5):1517.e5-1517.e7 [PubMed]
  • 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. Is the Frontal Assessment Battery reliable in ALS patients? Amyotrophic lateral sclerosis and frontotemporal degeneration 2013;14 (1):73-74 [PubMed]
  • Huisman Mark H. B., Seelen Meinie, de Jong Sonja W., Dorresteijn Kirsten R. I. S., van Doormaal Perry T. C., van der Kooi Anneke J., de Visser Marianne, Schelhaas Helenius Jurgen, van den Berg Leonard H., Veldink Jan Herman Lifetime physical activity and the risk of amyotrophic lateral sclerosis Journal of neurology, neurosurgery, and psychiatry 2013;84 (9):976-981 [PubMed]
  • Linssen W. H. J. P., de Voogt W. G., Krahn M., Bernard R., Levy N., Wokke J. H. J., Ginjaar H. B., de Visser M. Long-term follow-up study on patients with Miyoshi phenotype of distal muscular dystrophy European journal of neurology 2013;20 (6):968-974 [PubMed]
  • 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. Parental age and the risk of amyotrophic lateral sclerosis Amyotrophic lateral sclerosis and frontotemporal degeneration 2013;14 (3):224-227 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., van Wattingen Menno, de Haan Rob J., de Visser Marianne Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response Neurology 2013;80 (24):2275-2276 [PubMed]
  • Raaphorst Joost, Beeldman Emma, Schmand Ben, van den Berg Leonard H., de Visser Marianne, de Haan Rob J. Response to 'Exploring limits of neuropsychological screening in ALS: the FAB problem' Amyotrophic lateral sclerosis and frontotemporal degeneration 2013;14 (2):159-160 [PubMed]
  • Mazzone E., Bianco F., Main M., van den Hauwe M., Ash M., de Vries R., Fagoaga Mata J., Stein S., de Sanctis R., D'Amico A., Palermo C., Fanelli L., Scoto M. C., Mayhew A., Eagle M., Vigo M., Febrer A., Korinthenberg R., de Visser M., Bushby K., Muntoni F., Goemans N., Sormani M. P., Bertini E., Pane M., Mercuri E. Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study Neuromuscular disorders 2013;23 (8):624-628 [PubMed]
  • de Visser M., Fluit C., Timmer-Bonte J., Ottevanger P., Verhagen C., Klaassen T., van Laarhoven H. W. M. Teaching adjuvant endocrine breast cancer treatment to medical students Netherlands journal of medicine 2013;71 (4):215-219 [PubMed]
  • de Visser Marianne The efficacy of rituximab in refractory myositis: the jury is still out Arthritis and rheumatism 2013;65 (2):303-306 [PubMed]
  • Raaphorst J., Tuijp J., Verweij L., Westermann E. J. A., van der Kooi A. J., Gaytant M. A., van den Berg L. H., de Visser M., Kampelmacher M. J. Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral European journal of neurology 2013;20 (12):1524-1530 [PubMed]
  • Voermans Nicol C., de Visser Marianne, Wokke John H. J., Brusse Esther Verhoogde CK-activiteit in serum zonder klachten: vaak geen aanvullend onderzoek nodig Nederlands tijdschrift voor geneeskunde 2013;157 (41):A6315 [PubMed]

2012

  • Raaphorst Joost, Beeldman Emma, de Visser Marianne, de Haan Rob J., Schmand Ben A systematic review of behavioural changes in motor neuron disease Amyotrophic lateral sclerosis 2012;13 (6):493-501 [PubMed]
  • van der Beek Nadine A. M. E., de Vries Juna M., Hagemans Marloes L. C., Hop Wim C. J., Kroos Marian A., Wokke John H. J., de Visser Marianne, van Engelen Baziel G. M., Kuks Jan B. M., van der Kooi Anneke J., Notermans Nicolette C., Faber Karin G., Verschuuren Jan J. G. M., Reuser Arnold J. J., van der Ploeg Ans T., van Doorn Pieter A. Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study Orphanet journal of rare diseases 2012;7 (1):88 [PubMed]
  • 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. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Nature genetics 2012;44 (12):1370-1374 [PubMed]
  • de Vries Juna M., van der Beek Nadine A. M. E., Hop Wim C. J., Karstens Francois P. J., Wokke John H., de Visser Marianne, van Engelen Baziel G. M., Kuks Jan B. M., van der Kooi Anneke J., Notermans Nicolette C., Faber Catharina G., Verschuuren Jan J. G. M., Kruijshaar Michelle E., Reuser Arnold J. J., van Doorn Pieter A., van der Ploeg Ans T. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study Orphanet journal of rare diseases 2012;7 (1):73 [PubMed]
  • van Blitterswijk Marka, van Es Michael A., Hennekam Eric A. M., Dooijes Dennis, van Rheenen Wouter, Medic Jelena, Bourque Pierre R., Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, de Bakker Paul I. W., Veldink Jan H., van den Berg Leonard H. Evidence for an oligogenic basis of amyotrophic lateral sclerosis Human molecular genetics 2012;21 (17):3776-3784 [PubMed]
  • 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. Genetic overlap between apparently sporadic motor neuron diseases PLoS ONE 2012;7 (11):e48983 [PubMed]
  • van Rheenen Wouter, van Blitterswijk Marka, Huisman Mark H. B., Vlam Lotte, van Doormaal Perry T. C., Seelen Meinie, Medic Jelena, Dooijes Dennis, de Visser Marianne, van der Kooi Anneke J., Raaphorst Joost, Schelhaas Helenius J., van der Pol W. Ludo, Veldink Jan H., van den Berg Leonard H. Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases Neurology 2012;79 (9):878-882 [PubMed]
  • Verstraete Esther, Veldink Jan H., Huisman Mark H. B., Draak Tim, Uijtendaal Esther V., van der Kooi Anneke J., Schelhaas H. Jurgen, de Visser Marianne, van der Tweel Ingeborg, van den Berg Leonard H. Lithium lacks effect on survival in amyotrophic lateral sclerosis: a phase IIb randomised sequential trial Journal of neurology, neurosurgery, and psychiatry 2012;83 (5):557-564 [PubMed]
  • Vanhoutte Els Karla, Faber Catharina Gerritdina, van Nes Sonja Ingrid, Jacobs Bart Casper, van Doorn Pieter Antoon, van Koningsveld Rinske, Cornblath David Reid, van der Kooi Anneke Jelly, Cats Elisabeth Aviva, van den Berg Leonard Hendrik, Notermans Nicolette Claudia, van der Pol Willem Lodewijk, Hermans Mieke Catharina Elisabeth, van der Beek Nadine Anna Maria Elisabeth, Gorson Kenneth Craig, Eurelings Marijke, Engelsman Jeroen, Boot Hendrik, Meijer Ronaldus Jacobus, Lauria Giuseppe, Tennant Alan, Merkies Ingemar Sergio José, Barreira A. A., Bennett D., van den Bergh P. Y. K., Bril V., Devigili G., Hadden R. D., Hahn A. F., Hartung H.-P., Hughes R. A. C., Illa I., Katzberg H., Léger J.-M., Lewis R. A., Lunn M. P. T., Nascimento O. J. M., Nobile-Orazio E., Padua L., Pouget J., Reilly M. M., van Schaik I., Smith B., de Visser M., Walk D. Modifying the Medical Research Council grading system through Rasch analyses Brain 2012;135 (5):1639-1649 [PubMed]
  • Vanhoutte Els Karla, Faber Catharina Gerritdina, Merkies Ingemar Sergio José, Barreira A. A., Bennett D., van den Bergh P. Y. K., Bril V., Devigili G., Hadden R. D., Hahn A. F., Hartung H.-P., Hughes R. A. C., Illa I., Katzberg H., van der Kooi A. J., Léger J.-M., Lewis R. A., Lunn M. P. T., Nobile-Orazio E., Padua L., Pouget J., Reilly M. M., van Schaik I., de Visser M. MRC sum-score in the ICU: good reliability does not necessarily reflect "true reliability" Muscle & nerve 2012;45 (5):767-8; author reply 768-9 [PubMed]
  • Vlam Lotte, Schelhaas Helenius J., van Blitterswijk Marka, van Vught Paul W. J., de Visser Marianne, van der Kooi Anneke J., van der Pol W.-Ludo, van den Berg Leonard H. Mutations in the TRPV4 Gene Are Not Associated With Sporadic Progressive Muscular Atrophy Archives of neurology 2012;69 (6):790-791 [PubMed]
  • van Blitterswijk Marka, van Vught Paul W. J., van Es Michael A., Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients Neurobiology of aging 2012;33 (5):1016.e1-1016.e7 [PubMed]
  • van Blitterswijk Marka, Blokhuis Anna, van Es Michael A., van Vught Paul W. J., Rowicka Paulina A., Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients Neurobiology of aging 2012;33 (8):1845.e1-1845.e3 [PubMed]
  • van Spaendonck-Zwarts K. Y., van der Kooi A. J., van den Berg M. P., Ippel E. F., Boven L. G., Yee W.-C., van den Wijngaard A., Brusse E., Hoogendijk J. E., Doevendans P. A., de Visser M., Jongbloed J. D. H., van Tintelen J. P. Recurrent and founder mutations in the Netherlands: the cardiac phenotype of founder mutations p.S13F and p.N342D Netherlands heart journal 2012;20 (5):219-228 [PubMed]
  • ten Dam Leroy, van der Kooi Anneke J., van Wattingen Menno, de Haan Rob J., de Visser Marianne Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies Neurology 2012;79 (16):1716-1723 [PubMed]
  • Mahjneh Ibrahim, Bashir Rumaisa, Kiuru-Enari Sari, Linssen Wim, Lamminen Antti, de Visser Marianne Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study Neuromuscular disorders 2012;22 (2):S130-S136 [PubMed]
  • de Jong Sonja W., Huisman Mark H. B., Sutedja Nadia A., van der Kooi Anneke J., de Visser Marianne, Schelhaas Helenius J., Fischer Kathelijn, Veldink Jan H., van den Berg Leonard H. Smoking, alcohol consumption, and the risk of amyotrophic lateral sclerosis: a population-based study American journal of epidemiology 2012;176 (3):233-239 [PubMed]
  • Raaphorst Joost, Beeldman Emma, Schmand Ben, Berkhout Joris, Linssen Wim H. J. P., van den Berg Leonard H., Pijnenburg Yolande A., Grupstra Hepke F., Weikamp Janneke G., Schelhaas H. Jurgen, Papma Janne M., van Swieten John C., de Visser Marianne, de Haan Rob J. The ALS-FTD-Q A new screening tool for behavioral disturbances in ALS Neurology 2012;79 (13):1377-1383 [PubMed]
  • Engelen Marc Translational studies in X-linked adrenoleukodystrophy 2012. 135p. ISBN 9789461914743. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll-The B. T., de Visser M.; Co-supervisors: Kemp S., van Geel B. M.)
  • van Doormaal Perry T. C., van Rheenen Wouter, van Blitterswijk Marka, Schellevis Raymond D., Schelhaas Helenius J., de Visser Marianne, van der Kooi Anneke J., Veldink Jan H., van den Berg Leonard H. UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands Neurobiology of aging 2012;33 (9):2233.e7-2233.e8 [PubMed]
  • Diekstra Frank P., van Vught Paul W. J., van Rheenen Wouter, Koppers Max, Pasterkamp R. Jeroen, van Es Michael A., Schelhaas Helenius J., de Visser Marianne, Robberecht Wim, van Damme Philip, Andersen Peter M., van den Berg Leonard H., Veldink Jan H. UNC13A is a modifier of survival in amyotrophic lateral sclerosis Neurobiology of aging 2012;33 (3):630.e3-630.e8 [PubMed]
  • van der Graaff Maaike M. Upper motor and extra-motor neuron in volvement in recent-onset motor neuron disease 2012. 180p. ISBN 9789461911544. [UvA Dissertations Online] University of Amsterdam. (Supervisor: de Visser M.)
  • van Blitterswijk Marka, van Es Michael A., Koppers Max, van Rheenen Wouter, Medic Jelena, Schelhaas Helenius J., van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient Neurobiology of aging 2012;33 (12):2950.e1-2950.e4 [PubMed]
  • Koppers Max, van Blitterswijk Marka M., Vlam Lotte, Rowicka Paulina A., van Vught Paul W. J., Groen Ewout J. N., Spliet Wim G. M., Engelen-Lee Jooyeon, Schelhaas Helenius J., de Visser Marianne, van der Kooi Anneke J., van der Pol W.-Ludo, Pasterkamp R. Jeroen, Veldink Jan H., van den Berg Leonard H. VCP mutations in familial and sporadic amyotrophic lateral sclerosis Neurobiology of aging 2012;33 (4):837.e7-837.13 [PubMed]
  • Engelen Marc, Kemp Stephan, de Visser Marianne, van Geel Björn M., Wanders Ronald J. A., Aubourg Patrick, Poll-The Bwee Tien X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management Orphanet journal of rare diseases 2012;7 (1):51 [PubMed]

2011

  • van Es Michael A., Schelhaas Helenius J., van Vught Paul W. J., Ticozzi Nicola, Andersen Peter M., Groen Ewout J. N., Schulte Claudia, Blauw Hylke M., Koppers Max, Diekstra Frank P., Fumoto Katsumi, Leclerc Ashley Lyn, Keagle Pamela, Bloem Bastiaan R., Scheffer Hans, van Nuenen Bart F. L., van Blitterswijk Marka, van Rheenen Wouter, Wills Anne-Marie, Lowe Patrick P., Hu Guo-Fu, Yu Wenhao, Kishikawa Hiroko, Wu David, Folkerth Rebecca D., Mariani Claudio, Goldwurm Stefano, Pezzoli Gianni, van Damme Philip, Lemmens Robin, Dahlberg Caroline, Birve Anna, Fernández-Santiago Rubén, Waibel Stefan, Klein Christine, Weber Markus, van der Kooi Anneke J., de Visser Marianne, Verbaan Dagmar, van Hilten Jacobus J., Heutink Peter, Hennekam Eric A. M., Cuppen Edwin, Berg Daniela, Brown Robert H., Silani Vincenzo, Gasser Thomas, Ludolph Albert C., Robberecht Wim, Ophoff Roel A., Veldink Jan H., Pasterkamp R. Jeroen, de Bakker Paul I. W., Landers John E., van de Warrenburg Bart P., van den Berg Leonard H. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis Annals of neurology 2011;70 (6):964-973 [PubMed]
  • de Visser Marianne, Verhamme Camiel Ascorbic acid for treatment in CMT1A: what's next? Lancet neurology 2011;10 (4):291-293 [PubMed]
  • Schade van Westrum S. M., Hoogerwaard E. M., Dekker L., Standaar T. S., Bakker E., Ippel P. F., Oosterwijk J. C., Majoor-Krakauer D. F., van Essen A. J., Leschot N. J., Wilde A. A. M., de Haan R. J., de Visser M., van der Kooi A. J. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy Neurology 2011;77 (1):62-66 [PubMed]
  • Kuijper Barbara Cervical radiculopathy; diagnostic aspects and non-surgical treatment 2011. 141p. ISBN 9789461691002. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., Nollet F.; Co-supervisors: Tans J. Th J., Beelen A.)
  • Raaphorst Joost, de Visser Marianne, van Tol Marie-José, Linssen Wim H. J. P., van der Kooi Anneke J., de Haan Rob J., van den Berg Leonard H., Schmand Ben Cognitive dysfunction in lower motor neuron disease: executive and memory deficits in progressive muscular atrophy Journal of neurology, neurosurgery, and psychiatry 2011;82 (2):170-175 [PubMed]
  • Hak A. E., de Paepe B., de Bleecker J. L., Tak P.-P., de Visser M. Dermatomyositis and polymyositis: new treatment targets on the horizon Netherlands journal of medicine 2011;69 (10):410-421 [PubMed]
  • Huisman M. H. B., de Jong S. W., Verwijs M. C., Schelhaas H. J., van der Kooi A. J., de Visser M., Veldink J. H., van den Berg L. H. Family history of neurodegenerative and vascular diseases in ALS: a population-based study Neurology 2011;77 (14):1363-1369 [PubMed]
  • van der Kooi A. J., de Visser M. Hereditary neuromuscular diseases and cardiac involvementin: H. F. Baars, J. J. van der Smagt, P. A. F. M. Doevendans, editors. Clinical Cardiogenetics. London: Springer-Verlag; 2011. p. 385-400, ISBN 9781849964708
  • Kuijper B., Beelen A., van der Kallen B. F., Nollet F., Lycklama a Nijeholt G. J., de Visser M., Tans J. Th J. Interobserver agreement on MRI evaluation of patients with cervical radiculopathy Clinical radiology 2011;66 (1):25-29 [PubMed]
  • Huisman Mark H. B., de Jong Sonja W., van Doormaal Perry T. C., Weinreich Stephanie S., Schelhaas H. Jurgen, van der Kooi Anneke J., de Visser Marianne, Veldink Jan H., van den Berg Leonard H. Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology Journal of neurology, neurosurgery, and psychiatry 2011;82 (10):1165-1170 [PubMed]
  • Kuijper Barbara, Tans Jos Th J., van der Kallen Bas F., Nollet Frans, Lycklama A Nijeholt Geert J., de Visser Marianne Root compression on MRI compared with clinical findings in patients with recent onset cervical radiculopathy Journal of neurology, neurosurgery, and psychiatry 2011;82 (5):561-563 [PubMed]
  • 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. The phenotype of the Gly94fsX222 PMP22 insertion Journal of the peripheral nervous system 2011;16 (2):113-118 [PubMed]
  • Koopman Fieke Sophia, Uegaki Kimi, Gilhus Nils Erik, Beelen Anita, de Visser Marianne, Nollet Frans Treatment for postpolio syndrome Cochrane database of systematic reviews (Online) 2011;2011 (2):CD007818 [PubMed]
  • van der Graaff Maaike M., Sage Caroline A., Caan Matthan W. A., Akkerman Erik M., Lavini Cristina, Majoie Charles B., Nederveen Aart J., Zwinderman Aeilko H., Vos Frans, Brugman Frans, van den Berg Leonard H., de Rijk Maarten C., van Doorn Pieter A., van Hecke Wim, Peeters Ronald R., Robberecht Wim, Sunaert Stefan, de Visser Marianne Upper and extra-motoneuron involvement in early motoneuron disease: a diffusion tensor imaging study Brain 2011;134 (Part 4):1211-1228 [PubMed]
  • Engelen Marc, van der Kooi Anneke J., Kemp Stephan, Wanders Ronald J. A., Sistermans Erik A., Waterham Hans R., Koelman Johannes T. M., van Geel Björn M., de Visser Marianne X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy Journal of the peripheral nervous system 2011;16 (4):353-355 [PubMed]

2010

  • Raaphorst Joost, Grupstra Hepke F., Linssen Wim H. J. P., van Swieten John C., Schmand Ben, de Visser Marianne Amyotrofische laterale sclerose en frontotemporale dementie: overlap in kenmerken Nederlands tijdschrift voor geneeskunde 2010;154 (1):A631 [PubMed]
  • van der Graaff Maaike Maria, de Visser Marianne Bilateral Vocal Cord Paralysis: A Rare Onset of Amyotrophic Lateral Sclerosis Reply Archives of neurology 2010;67 (7):898-899
  • Verhamme Camiel Charcot-Marie-Tooth type 1A 2010. 181p. ISBN 9789081608114. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., Baas F.; Co-supervisor: van Schaik I. N.)
  • Koopman Fieke S., Beelen Anita, Gerrits Karin H., Bleijenberg Gijs, Abma Tineke A., de Visser Marianne, Nollet Frans Exercise therapy and cognitive behavioural therapy to improve fatigue, daily activity performance and quality of life in Postpoliomyelitis Syndrome: the protocol of the FACTS-2-PPS trial BMC neurology 2010;10 (1):8 [PubMed]
  • Groen Ewout J. N., van Es Michael A., van Vught Paul W. J., Spliet Wim G. M., van Engelen-Lee Jooyeon, de Visser Marianne, Wokke John H. J., Schelhaas Helenius J., Ophoff Roel A., Fumoto Katsumi, Pasterkamp R. Jeroen, Dooijes Dennis, Cuppen Edwin, Veldink Jan H., van den Berg Leonard H. FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands Archives of neurology 2010;67 (2):224-230 [PubMed]
  • Engelen Marc, Ofman Rob, Dijkgraaf Marcel G. W., Hijzen Michiel, van der Wardt Lucinda A., van Geel Bjorn M., de Visser Marianne, Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Lovastatin in X-Linked Adrenoleukodystrophy New England journal of medicine 2010;362 (3):276-277 [PubMed]
  • van der Graaff M. M., Lavini C., Akkerman E. M., Majoie Ch B., Nederveen A. J., Zwinderman A. H., Brugman F., van den Berg L. H., de Jong J. M. B. V., de Visser M. MR Spectroscopy Findings in Early Stages of Motor Neuron Disease AJNR. American journal of neuroradiology 2010;31 (10):1799-1806 [PubMed]
  • Van de Vlekkert J., Hoogendijk J. E., de Haan R. J., Algra A., van der Tweel I., van der Pol W. L., Uijtendaal E. V., de Visser M. Oral dexamethasone pulse therapy versus daily prednisolone in sub-acute onset myositis, a randomised clinical trial Neuromuscular disorders 2010;20 (6):382-389 [PubMed]
  • Bolling Maria C., Pas Hendri H., de Visser Marianne, Aronica Eleonora, Pfendner Ellen G., van den Berg Maarten P., Diercks Gilles F. H., Suurmeijer Albert J. H., Jonkman Marcel F. PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy Journal of investigative dermatology 2010;130 (4):1178-1181 [PubMed]
  • Kuijper Barbara, Tans Jos Th J., Beelen Anita, Nollet Frans, de Visser Marianne Recent ontstane cervicale radiculopathie: minder pijn met halskraag of fysiotherapie Nederlands tijdschrift voor geneeskunde 2010;154 (11):A1283 [PubMed]
  • 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 Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies American journal of human genetics 2010;86 (2):213-221 [PubMed]
  • Zutt R., van der Kooi A. J., Linthorst G. E., Wanders R. J. A., Verschuuren J. J. G. M., de Visser M. Recidiverende rabdomyolyse: zoek naar de onderliggende aandoening Nederlands tijdschrift voor geneeskunde 2010;154 (43):A2290 [PubMed]
  • Atary J. Z., de Visser M., van den Dijk R., Bosch J., Liem S. S., Antoni M. L., Bootsma M., Viergever E. P., Kirchhof C. J., Padmos I., Sedney M. I., van Exel H. J., Verwey H. F., Atsma D. E., van der Wal E. E., Jukema J. W., Schalij M. J. Standardised pre-hospital care of acute myocardial infarction patients: MISSION! guidelines applied in practice Netherlands heart journal 2010;18 (9):408-415 [PubMed]
  • Raaphorst Joost, de Visser Marianne, Linssen Wim H. J. P., de Haan Rob J., Schmand Ben The cognitive profile of amyotrophic lateral sclerosis: A meta-analysis Amyotrophic lateral sclerosis 2010;11 (1-2):27-U17 [PubMed]
  • Videler Annemieke J., Beelen Anita, van Schaik Ivo N., Verhamme Camiel, van den Berg Leonard H., de Visser Marianne, Nollet Frans Tripod pinch strength and thumb opposition are the major determinants of manual dexterity in Charcot-Marie-Tooth disease type 1A Journal of neurology, neurosurgery, and psychiatry 2010;81 (8):828-833 [PubMed]

2009

  • van der Kooi A. J., de Visser M., Carillo-Nunez I. M. A clinical approachin: R. P. Lisak, D. D. Truong, W. M. Carrol, R. Bhidayasiri, editors. International neurology. S.l.: Wiley-Blackwell; 2009. p. 215-222, ISBN 9781405157384
  • van den Berg-Vos Renske M., Visser Jeldican, Kalmijn Sandra, Fischer Kathelijn, de Visser Marianne, de Jong Vianney, de Haan Rob J., Franssen Hessel, Wokke John H. J., van den Berg Leonard H. A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes Archives of neurology 2009;66 (6):751-757 [PubMed]
  • van Es Michael A., van Vught Paul W. J., Veldink Jan H., Andersen Peter M., Birve Anna, Lemmens Robin, Cronin Simon, van der Kooi Anneke J., de Visser Marianne, Schelhaas Helenius J., Hardiman Orla, Ragoussis Ioannis, Lambrechts Diether, Robberecht Wim, Wokke John H. J., Ophoff Roel A., van den Berg Leonard H. Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis Amyotrophic lateral sclerosis 2009;10 (5-6):441-U274 [PubMed]
  • Bronner I. M., Hoogendijk J. E., de Visser M., Van de Vlekkert J., Badrising U. A., Wintzen A. R., Uitdehaag B. M. J., Blokland-Fromme M., Leusen J. H. W., van der Pol W.-L. Association of the leukocyte immunoglobulin G (Fcgamma) receptor IIIa-158V/F polymorphism with inflammatory myopathies in Dutch patients Tissue antigens 2009;73 (6):586-589 [PubMed]
  • Kuijper Barbara, Tans Jos Th J., Beelen Anita, Nollet Frans, de Visser Marianne Cervical collar or physiotherapy versus wait and see policy for recent onset cervical radiculopathy: randomised trial BMJ (Clinical research ed.) 2009;339:b3883 [PubMed]
  • van der Graaff M., Kuiper T., Zwinderman A., van de Warrenburg B., Poels P., Offeringa A., van der Kooi A., Speelman H., de Visser M. Clinical Identification of Dysarthria Types among Neurologists, Residents in Neurology and Speech Therapists European neurology 2009;61 (5):295-300 [PubMed]
  • Bodar E. J., Simon A., de Visser M., van der Meer J. W. M. Complete remission of severe idiopathic cold urticaria on interleukin-1 receptor antagonist (anakinra) Netherlands journal of medicine 2009;67 (9):302-305 [PubMed]
  • Kuijper B., Tans J. Th J., Schimsheimer R. J., van der Kallen B. F. W., Beelen A., Nollet F., de Visser M. Degenerative cervical radiculopathy: diagnosis and conservative treatment. A review European journal of neurology 2009;16 (1):15-20 [PubMed]
  • Brugman Frans, Veldink Jan H., Franssen Hessel, de Visser Marianne, de Jong J. M. B. Vianney, Faber Carin G., Kremer Berry H. P., Schelhaas H. Jurgen, van Doorn Pieter A., Verschuuren Jan J. G. M., Bruyn Richard P. M., Kuks Jan B. M., Robberecht Wim, Wokke John H. J., van den Berg Leonard H. Differentiation of Hereditary Spastic Paraparesis From Primary Lateral Sclerosis in Sporadic Adult-Onset Upper Motor Neuron Syndromes Archives of neurology 2009;66 (4):509-514 [PubMed]
  • 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, Giegling Ina, Muglia Pierandrea, Tomik Barbara, Slowik Agnieszka, Uitterlinden Andre G., Hendrich Corinna, Waibel Stefan, Meyer Thomas, Ludolph Albert C., Glass Jonathan D., Purcell Shaun, Cichon Sven, Nöthen Markus M., Wichmann H.-Erich, Schreiber Stefan, Vermeulen Sita H. H. M., Kiemeney Lambertus A., Wokke John H. J., Cronin Simon, McLaughlin Russell L., Hardiman Orla, Fumoto Katsumi, Pasterkamp R. Jeroen, Meininger Vincent, Melki Judith, Leigh P. Nigel, Shaw Christopher E., Landers John E., Al-Chalabi Ammar, Brown Robert H., Robberecht Wim, Andersen Peter M., Ophoff Roel A., van den Berg Leonard H. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis Nature genetics 2009;41 (10):1083-U53 [PubMed]
  • Carillo-Nunez I. M., van der Kooi A. J., de Visser M. Limb girdle dystrophiesin: R. P. Lisak, D. D. Truong, W. M. Carrol, R. Bhidayasiri, editors. International neurology. S.l.: Wiley-Blackwell; 2009. p. 215-222, ISBN 9781405157384
  • Videler Annemieke J., Beelen Anita, van Schaik Ivo N., de Visser Marianne, Nollet Frans Limited upper limb functioning has impact on restrictions in participation and autonomy of patients with hereditary motor and sensory neuropathy 1a Journal of rehabilitation medicine 2009;41 (9):746-750 [PubMed]
  • Hijdra A., de Gans J., van der Kooi A. J., de Visser M. Neurologische aandoeningenin: A. E. Meinders, R. O. B. Gans, M. M. Levi, J. A. Romijn, P. Vermeij, editors. Therapie in de interne geneeskunde. Maarssen: Elsevier gezondheidzorg; 2009. p. 913-963, ISBN 9789035230422
  • Hijdra A., de Gans J., van der Kooi A. J., de Visser M. Neurologische aandoeningen [Hoofdstuk 13]in: A. E. Meinders, R. O. B. Gans, M. M. Levi, J. A. Romijn, P. Vermeij, editors. Therapie in de interne geneeskunde [5e druk]. Maarssen: Elsevier gezondheidzorg; 2009. p. 913-963, ISBN 9789035230422
  • Verhamme Camiel, de Haan Rob J., Vermeulen Marinus, Baas Frank, de Visser Marianne, van Schaik Ivo N. Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial BMC medicine 2009;7 (1):70 [PubMed]
  • Bronner Irene M. Polymyositis and dermatomyositis: classsification, risk factors and outcome 2009. 124p. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser M., Wokke J. H. J.; Co-supervisors: Hoogendijk J. E., Linssen W. H. J. P.)
  • Piepers Sanne, Veldink Jan H., de Jong Sonja W., van der Tweel Ingeborg, van der Pol W.-Ludo, Uijtendaal Esther V., Schelhaas H. Jurgen, Scheffer Hans, de Visser Marianne, de Jong J. M. B. Vianney, Wokke John H. J., Groeneveld Geert Jan, van den Berg Leonard H. Randomized Sequential Trial of Valproic Acid in Amyotrophic Lateral Sclerosis Annals of neurology 2009;66 (2):227-234 [PubMed]
  • Trip Jeroen, Drost Gea, Ginjaar Ieke, Nieman Fred, van der Kooi A. J., de Visser Marianne, van Engelen Baziel G., Faber Catherina Redefining the clinical phenotypes of non-dystrophic myotonic syndromes Journal of neurology, neurosurgery, and psychiatry 2009;80 (6):647-652 [PubMed]
  • Cobben Jan Maarten, de Visser Marianne Response: Survival in SMA type 1 Neuromuscular disorders 2009;19 (1):76-76 [PubMed]
  • Videler Annemieke J. The hand in Charcot-Marie-Tooth disease 1A 2009. 150p. ISBN 9789090244822. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Nollet F., de Visser M.; Co-supervisors: Beelen J. A. J. M., van Schaik I. N.)
  • Verhamme Camiel, van Schaik Ivo N., Koelman Johannes H. T. M., de Haan Rob J., de Visser Marianne The natural history of Charcot-Marie-Tooth type 1A in adults: a 5-year follow-up study Brain 2009;132 (Part 12):3252-3262 [PubMed]
  • Blok M. J., van den Bosch B. J., Jongen E., Hendrickx A., de Die-Smulders C. E., Hoogendijk J. E., Brusse E., de Visser M., Poll-The B. T., Bierau J., de Coo I. F., Smeets H. J. The unfolding clinical spectrum of POLG mutations Journal of medical genetics 2009;46 (11):776-785 [PubMed]
  • van der Graaff M. M., de Jong J. M. B. V., Baas F., de Visser M. Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: A clinical and brain imaging review Neuromuscular disorders 2009;19 (1):53-58 [PubMed]
  • van der Graaff Maaike M., Grolman Wilko, Westermann Erik J., Boogaardt Hans C., Koelman Hans, van der Kooi Anneke J., Tijssen Marina A., de Visser Marianne Vocal cord dysfunction in amyotrophic lateral sclerosis: four cases and a review of the literature Archives of neurology 2009;66 (11):1329-1333 [PubMed]
  • Argov Zohar, de Visser Marianne What we do not know about pregnancy in hereditary neuromuscular disorders Neuromuscular disorders 2009;19 (10):675-679 [PubMed]

2008

  • Visser Jeldican Adult-onset sporadic progressive muscular atrophy . Natural history, diagnosis, and prognostic factors 2008. 142p. ISBN 9789090226439. [UvA Dissertations Online] University of Amsterdam. (Supervisors: van den Berg L. H., de Visser M.)
  • Piepers S., van den Berg L. H., Brugman F., Scheffer H., Ruiterkamp-Versteeg M., van Engelen B. G., Faber C. G., de Visser M., van der Pol W.-L., Wokke J. H. J. A natural history study of late onset spinal muscular atrophy types 3b and 4 Journal of neurology 2008;255 (9):1400-1404 [PubMed]
  • van der Kooi A. J., van Langen I. M., Aronica E., van Doorn P. A., Wokke J. H. J., Brusse E., Langerhorst C. T., Bergin P., Dekker L. R. C., Deprez R. H. Lekanne dit, de Visser M. Extension of the clinical spectrum of Danon disease Neurology 2008;70 (16):1358-1359 [PubMed]
  • 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 Hypertension risk in idiopathic hyperCKemia Journal of neurology 2008;255 (1):11-15 [PubMed]
  • Trip Jeroen, Drost Gea, Verbove Dennis J., van der Kooi Anneke J., Kuks Jan B. M., Notermans Nicolette C., Verschuuren Jan J., de Visser Marianne, van Engelen Baziel G. M., Faber Carin G., Ginjaar Ieke B. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia European journal of human genetics 2008;16 (8):921-929 [PubMed]
  • Visser J., de Visser M., van den Berg-Vos R. M., van den Berg L. H., Wokke J. H. J., de Jong J. M. B. V., Franssen H. Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy Journal of neurology 2008;255 (6):903-909 [PubMed]
  • Videler Annemieke J., Beelen Anita, van Schaik Ivo N., de Visser Marianne, Nollet Frans Manual dexterity in hereditary motor and sensory neuropathy type 1a: severity of limitations and feasibility and reliability of two assessment instruments Journal of rehabilitation medicine 2008;40 (2):132-136 [PubMed]
  • Videler A. J., van Dijk J. P., Beelen A., de Visser M., Nollet F., van Schaik I. N. Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a Neurology 2008;71 (16):1254-1260 [PubMed]
  • Vergouwen M. D. I., Sistermans E. A., Baas F., Koelman J. H., de Visser M. Novel mutation in the SPAST gene in a patient with spastic paraparesis Journal of neurology 2008;255 (2):303-304 [PubMed]
  • Monnier Nicole, Marty Isabelle, Faure Julien, Castiglioni Claudia, Desnuelle Claude, Sacconi Sabrina, Estournet Brigitte, Ferreiro Ana, Romero Norma, Laquerriere Annie, Lazaro Leila, Martin Jean-Jacques, Morava Eva, Rossi Annick, van der Kooi Anneke, de Visser Marianne, Verschuuren Corien, Lunardi Joël Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores Human mutation 2008;29 (5):670-678 [PubMed]
  • Brugman F., Scheffer H., Wokke J. H. J., Nillesen W. M., de Visser M., Aronica E., Veldink J. H., van den Berg L. H. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes Neurology 2008;71 (19):1500-1505 [PubMed]
  • Van de Vlekkert J., Hoogendijk J. E., Frijns C. J. M., de Visser M. Spontaneous recovery of dermatomyositis and unspecified myositis in three adult patients Journal of neurology, neurosurgery, and psychiatry 2008;79 (6):729-730 [PubMed]
  • Cobben J. M., Lemmink H. H., Snoeck I., Barth P. A., van der Lee J. H., de Visser M. Survival in SMA type I: a prospective analysis of 34 consecutive cases Neuromuscular disorders 2008;18 (7):541-544 [PubMed]
  • Visser Jeldican, de Jong J. M. B. Vianney, de Visser Marianne The history of progressive muscular atrophy - Syndrome or disease? Neurology 2008;70 (9):723-727 [PubMed]
  • Titulaer M. J., Wirtz P. W., Kuks J. B. M., Schelhaas H. J., van der Kooi A. J., Faber C. G., van der Pol W. L., de Visser M., Sillevis Smitt P. A. E., Verschuuren J. J. G. M. The Lambert-Eaton myasthenic syndrome 1988-2008: A clinical picture in 97 patients Journal of neuroimmunology 2008;201:153-158 [PubMed]
  • Mercuri E., Mayhew A., Muntoni F., Messina S., Straub V., van Ommen G. J., Voit T., Bertini E., Bushby K., Ambrosini A., Beràrd C., Cobben J., Eagle M., Florence J., Glanzmann A., Hynan L. S., Main M., Mazzone E., Rudnik-Schoeneborn S., Steffensen B., Swoboda K., de Visser M., Griggs R., Atkinson L., Christensen J., Cossu G., Cwik V., Davies K., del Signore S., Denefle P., Denti M., Elfring G., Escolar D., Flanigan K., Furlong P., Heslop E., de Kimpe S., Korinthenberg R., Laouenan H., Lynn S., Marler J., Meier T., Partridge T., Porter J., Spinella G., Takeda S., Tapscott S., Tinsley J., Torrente Y., Tremblay J. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France Neuromuscular disorders 2008;18 (11):894-903 [PubMed]
  • Bronner Irene M., Hoogendijk Jessica E., Veldman Henk, Ramkema Marja, van den Bergh Weerman Marius A., Rozemuller Annemieke J. M., de Visser Marianne Tubuloreticular structures in different types of myositis: implications for pathogenesis Ultrastructural pathology 2008;32 (4):123-126 [PubMed]

2007

  • Bienfait Henriette M. E. Axonal phenotypes in Charcot-Marie-Tooth disease 2007. 115p. ISBN 9789090214801. [UvA Dissertations Online] University of Amsterdam. (Supervisors: de Visser Marianne, Baas Frank; Co-supervisor: Koelman Johannes H. T. M.)
  • van der Kooi Anneke J., de Voogt Willem G., de Visser Marianne Cardiac involvement in Bethlem myopathy - Reply Archives of neurology 2007;64 (6):915-916
  • Visser Jeldican, van den Berg-Vos Renske M., Franssen Hessel, van den Berg Leonard H., Wokke John H., de Jong J. M. Vianney, Holman Rebecca, de Haan Rob J., de Visser Marianne Disease course and prognostic factors of progressive muscular atrophy Archives of neurology 2007;64 (4):522-528 [PubMed]
  • Norwood F., de Visser M., Eymard B., Lochmüller H., Bushby K. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies European journal of neurology 2007;14 (12):1305-1312 [PubMed]
  • van der Kooi A. J., Frankhuizen W. S., Barth P. G., Howeler C. J., Padberg G. W., Spaans F., Wintzen A. R., Wokke J. H. J., van Ommen G.-J. B., de Visser M., Bakker E., Ginjaar H. B. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families Neurology 2007;68 (24):2125-2128 [PubMed]
  • de Visser Marianne Myopathies with early contracturesin: Marianne de Visser, editors. Handbook of Clinical Neurology. Amsterdam: Elsevier; 2007. p. 35-59, ISBN 9780444518996
  • Bienfait H. M. E., Baas F., Koelman J. H. T. M., de Haan R. J., van Engelen B. G. M., Gabreels-Festen A. A. W. M., Ongerboer de Visser B. W., Meggouh F., Weterman M. A. J., de Jonghe P., Timmerman V., de Visser M. Phenotype of Charcot-Marie-Tooth disease Type 2 Neurology 2007;68 (20):1658-1667 [PubMed]

2006

  • Züchner Stephan, de Jonghe Peter, Jordanova Albena, Claeys Kristl G., Guergueltcheva Velina, Cherninkova Sylvia, Hamilton Steven R., van Stavern Greg, Krajewski Karen M., Stajich Jeffery, Tournev Ivajlo, Verhoeven Kristien, Langerhorst Christine T., de Visser Marianne, Baas Frank, Bird Thomas, Timmerman Vincent, Shy Michael, Vance Jeffery M. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 Annals of neurology 2006;59 (2):276-281 [PubMed]
  • van der Kooi Anneke J., de Voogt Willem G., Bertini Enrico, Merlini Luciano, Talim F. Beril, Ben Yaou Rabah, Urtziberea Andoni, de Visser Marianne Cardiac and pulmonary investigations in Bethlem myopathy Archives of neurology 2006;63 (11):1617-1621 [PubMed]
  • Meggouh F., Bienfait H. M. E., Weterman M. A. J., de Visser M., Baas F. Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene Neurology 2006;67 (8):1476-1478 [PubMed]
  • 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 Comparison of CMT1A and CMT2: similarities and differences Journal of neurology 2006;253 (12):1572-1580 [PubMed]
  • Farbu E., Gilhus N. E., Barnes M. P., Borg K., de Visser M., Driessen A., Howard R., Nollet F., Opara J., Stalberg E. EFNS guideline on diagnosis and management of post-polio syndrome. Report of an EFNS task force European journal of neurology 2006;13 (8):795-801 [PubMed]
  • Lamont P. J., Udd B., Mastaglia F. L., de Visser M., Hedera P., Voit T., Bridges L. R., Fabian V., Rozemuller A., Laing N. G. Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy Journal of neurology, neurosurgery, and psychiatry 2006;77 (2):208-215 [PubMed]
  • Bienfait H. M. E., Faber C. G., Baas F., Gabreëls-Festen A. A. W. M., Koelman J. H. T. M., Hoogendijk J. E., Verschuuren J. J., Wokke J. H. J., de Visser M. Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation Journal of neurology, neurosurgery, and psychiatry 2006;77 (4):534-537 [PubMed]
  • Bronner I. M., van der Meulen M. F. G., de Visser M., Kalmijn S., van Venrooij W. J., Voskuyl A. E., Dinant H. J., Linssen W. H. J. P., Wokke J. H. J., Hoogendijk J. E. Long-term outcome in polymyositis and dermatomyositis Annals of the rheumatic diseases 2006;65 (11):1456-1461 [PubMed]
  • de Visser Marianne Neuromuscular disorders: orphan diseases deserve attention Lancet neurology 2006;5 (1):13-14 [PubMed]
  • Farbu E., Gilhus N. E., Barnes M. P., Borg K., de Visser M., Howard R., Nollet F., Opara J., Stalberg E. Post-polio syndromein: R. Hughes, M. Brainin, N. E. Gilhus, editors. European handbook of neurological management. S.l.: s.n.; 2006. p. 311-320
  • Goudeau Bertrand, Rodrigues-Lima Fernando, Fischer Dirk, Casteras-Simon Monique, Sambuughin Nyamkhishig, de Visser Marianne, Laforet Pascal, Ferrer Xavier, Chapon Françoise, Sjöberg Gunnar, Kostareva Anna, Sejersen Thomas, Dalakas Marinos C., Goldfarb Lev G., Vicart Patrick Variable pathogenic potentials of mutations located in the desmin alpha-helical domain Human mutation 2006;27 (9):906-913 [PubMed]

2005

  • Lucioli S., Giusti B., Mercuri E., Vanegas O. Camacho, Lucarini L., Pietroni V., Urtizberea A., Ben Yaou R., de Visser M., van der Kooi A. J., Bönnemann C., Iannaccone S. T., Merlini L., Bushby K., Muntoni F., Bertini E., Chu M.-L., Pepe G. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy Neurology 2005;64 (11):1931-1937 [PubMed]
  • Hoogerwaard Edo M., Ginjaar Ieke B., Bakker Egbert, de Visser Marianne Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy Neurology 2005;65 (12):1984-1986 [PubMed]
  • Meggouh Farid, de Visser Marianne, Arts Willem F. M., de Coo Rene I. F. M., van Schaik Ivo N., Baas Frank Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease Annals of neurology 2005;57 (4):589-591 [PubMed]
  • Badrising Umesh A., Maat-Schieman Marion L. C., van Houwelingen Johannes C., van Doorn Peter 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. Inclusion body myositis Clinical features and clinical course of the disease in 64 patients Journal of neurology 2005;252 (12):1448-1454 [PubMed]
  • 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. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? Journal of molecular medicine (Berlin, Germany) 2005;83 (1):79-83 [PubMed]
  • van den Berg J. P., Kalmijn S., Lindeman E., Veldink J. H., de Visser M., van der Graaff M. M., Wokke J. H. J., van den Berg L. H. Multidisciplinary ALS care improves quality of life in patients with ALS Neurology 2005;65 (8):1264-1267 [PubMed]
  • de Visser M., van Ballegooijen M., Bloemers S. M., van Deventer S. J. H., Jansen J. B. M. J., Jespersen J., Kluft C., Meijer G. A., Stoker J., de Valk G. A., Verweij M. F., Vlems F. A. Report on the Dutch consensus development meeting for implementation and further development of population screening for colorectal cancer based on FOBT Cellular oncology 2005;27 (1):17-29 [PubMed]
  • Hoogendijk J. E., Bijlsma J. W. J., van Engelen B. G. M., Lindeman E., van Royen-Kerkhof A., de Rie M. A., de Visser M., Jennekens F. G. I. Richtlijn 'dermatomyositis, polymyositis en sporadische "inclusion body"-myositis' Nederlands tijdschrift voor geneeskunde 2005;149 (38):2104-2111 [PubMed]

2004

  • Hoogendijk Jessica E., Amato Anthony A., Lecky Bryan R., Choy Ernest H., Lundberg Ingrid E., Rose Michael R., Vencovsky Jiri, de Visser Marianne, Hughes Richard A. 119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10-12 October 2003, Naarden, The Netherlands Neuromuscular disorders 2004;14 (5):337-345 [PubMed]
  • Badrising U. A., Schreuder G. M. Th, Giphart M. J., Geleijns K., Verschuuren J. J. G. M., Wintzen A. R., Maat-Schieman M. L. C., van Doorn P., van Engelen B. G. M., Faber C. G., Hoogendijk J. E., de Jager A. E., Koehler P. J., de Visser M., van Duinen S. G. Associations with autoimmune disorders and HLA class I and II antigens in inclusion body myositis Neurology 2004;63 (12):2396-2398 [PubMed]
  • Verhamme Camiel, van Schaik Ivo N., Koelman Johannes H. T. M., de Haan Rob J., Vermeulen Marinus, de Visser Marianne Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia Journal of neurology 2004;251 (12):1491-1497 [PubMed]
  • Vodusek David B., Grisold Wolfgang, de Visser Marianne, Gilhus Nils Erik, Cavaletti Guido Guidelines by the European Federation of Neurological Societies (EFNS) subcommittee for Continuing Medical Education (CME)--modification 2003 European journal of neurology 2004;11 (3):145-151 [PubMed]
  • Martín M. A., Rubio J. C., Wevers R. A., van Engelen B. G. M., Steenbergen G. C. H., van Diggelen O. P., de Visser M., de Die-Smulders C., Blázquez A., Andreu A. L., Arenas J. Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease Annals of human genetics 2004;68 (Part 1):17-22 [PubMed]
  • 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. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1) American journal of human genetics 2004;75 (4):703-708 [PubMed]
  • Bronner Irene M., Linssen Wim H. J. P., van der Meulen Marjon F. G., Hoogendijk Jessica E., de Visser Marianne Polymyositis: an ongoing discussion about a disease entity Archives of neurology 2004;61 (1):132-135 [PubMed]
  • Nollet Frans, de Visser Marianne Postpolio syndrome Archives of neurology 2004;61 (7):1142-1144 [PubMed]
  • Wirtz P. W., van Dijk J. G., van Doorn P. A., van Engelen B. G. M., van der Kooi A. J., Kuks J. B., Twijnstra A., de Visser M., Visser L. H., Wokke J. H., Wintzen A. R., Verschuuren J. J. The epidemiology of the Lambert-Eaton myasthenic syndrome in the Netherlands Neurology 2004;63 (2):397-398 [PubMed]

2003

  • Bonne Gisèle, Yaou Rabah Ben, Béroud Christophe, Boriani Giuseppe, Brown Sue, de Visser Marianne, Duboc Denis, Ellis Juliet, Hausmanowa-Petrusewicz Irena, Lattanzi Giovanna, Merlini Luciano, Morris Glenn, Muntoni Francesco, Opolski Grzegorz, Pinto Yigal M., Sangiuolo Federica, Toniolo Daniela, Trembath Richard, van Berlo Jop H., van der Kooi Anneke J., Wehnert Manfred 108th ENMC international workshop, 3rd workshop of the myo-cluster project: euromen, 7th international emery-dreifuss muscular dystrophy (edmd) workshop, 13-15 september 2002, naarden, the netherlands Neuromuscular disorders 2003;13 (6):508-515 [PubMed]
  • Nanayakkara Prabath W. B., Hartdorff Caroline M., Stehouwer Coen D. A., Vermeulen Roland J., de Visser Marianne A man with fever and a persistent handgrip Lancet 2003;362 (9389):1038 [PubMed]
  • Groeneveld G. J., Veldink Jan H., van der Tweel Ingeborg, Kalmijn Sandra, Beijer Cornelis, de Visser Marianne, Wokke John H. J., Franssen Hessel, van den Berg Leonard H. A randomized sequential trial of creatine in amyotrophic lateral sclerosis Annals of neurology 2003;53 (4):437-445 [PubMed]
  • Visser J., Mans E., de Visser M., van den Berg-Vos R. M., Franssen H., de Jong J. M. B. V., van den Berg L. H., Wokke J. H. J., de Haan R. J. Comparison of maximal voluntary isometric contraction and hand-held dynamometry in measuring muscle strength of patients with progressive lower motor neuron syndrome Neuromuscular disorders 2003;13 (9):744-750 [PubMed]
  • Bronner I. M., Hoogendijk J. E., Wintzen A. R., van der Meulen M. F. G., Linssen W. H. J. P., Wokke J. H. J., de Visser M. Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy Journal of neurology 2003;250 (4):480-485 [PubMed]
  • Nollet Frans, Beelen Anita, Twisk Jos W., Lankhorst Gustaaf J., de Visser Marianne Perceived health and physical functioning in postpoliomyelitis syndrome: A 6-year prospective follow-up study Archives of physical medicine and rehabilitation 2003;84 (7):1048-1056 [PubMed]
  • van der Meulen M. F. G., Bronner I. M., Hoogendijk J. E., Burger H., van Venrooij W. J., Voskuyl A. E., Dinant H. J., Linssen W. H. J. P., Wokke J. H. J., de Visser M. Polymyositis - An overdiagnosed entity Neurology 2003;61 (3):316-321 [PubMed]
  • Horemans H. L. D., Nollet F., Beelen A., Drost G., Stegeman D. F., Zwarts M. J., Bussmann J. B. J., de Visser M., Lankhorst G. J. Pyridostigmine in postpolio syndrome: no decline in fatigue and limited functional improvement Journal of neurology, neurosurgery, and psychiatry 2003;74 (12):1655-1661 [PubMed]
  • Beelen Anita, Nollet Frans, de Visser Marianne, de Jong Bareld A., Lankhorst Gustaaf J., Sargeant Anthony J. Quadriceps muscle strength and voluntary activation after polio Muscle & nerve 2003;28 (2):218-226 [PubMed]
  • Helderman-van den Enden A. T. J. M., Ginjaar H. B., Kneppers A. L. J., Bakker E., Breuning M. H., de Visser M. Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures Neuromuscular disorders 2003;13 (4):317-321 [PubMed]
  • van den Berg-Vos R. M., Visser J., Franssen H., de Visser M., de Jong J. M. B. V., Kalmijn S., Wokke J. H. J., van den Berg L. H. Sporadic lower motor neuron disease with adult onset: classification of subtypes Brain 2003;126 (Part 5):1036-1047 [PubMed]
  • Peters E. W., Bienfait H. M. E., de Visser M., de Haan R. J. The reliability of assessment of vibration sense Acta neurologica Scandinavica 2003;107 (4):293-298 [PubMed]
  • van den Berg-Vos R. M., van den Berg L. H., Visser J., de Visser M., Franssen H., Wokke J. H. J. The spectrum of lower motor neuron syndromes Journal of neurology 2003;250 (11):1279-1292 [PubMed]

2002

  • Bonne Gisèle, Capeau Jaqueline, de Visser Marianne, Duboc Denis, Merlini Luciano, Morris Glenn E., Muntoni Francesco, Recan Dominique, Sewry Caroline, Squarzoni Stefano, Stewart Colin, Talim Beril, van der Kooi Anneke, Worman Howard, Schwartz Ketty 82nd ENMC international workshop, 5th international Emery-Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15-16 September 2000, Naarden, The Netherlands Neuromuscular disorders 2002;12 (2):187-194 [PubMed]
  • Bastianutto Carlo, de Visser Marianne, Muntoni Francesco, Klamut Henry J., Patarnello Tomaso A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene Genomics 2002;80 (6):614-620 [PubMed]
  • Pepe Guglielmina, de Visser Marianne, Bertini Enrico, Bushby Kate, Vanegas Olga Camacho, Chu Mon Li, Lattanzi Giovanna, Merlini Luciano, Muntoni Francesco, Urtizberea Andoni Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands Neuromuscular disorders 2002;12 (3):296-305 [PubMed]
  • Pepe Guglielmina, Bertini Enrico, Bonaldo Paolo, Bushby Kate, Giusti Betti, de Visser Marianne, Guicheney Pascale, Lattanzi Giovanna, Merlini Luciano, Muntoni Francesco, Nishino Ichizo, Nonaka Ikuya, Yaou Rabah Ben, Sabatelli Patrizia, Sewry Caroline, Topaloglu Haluk, van der Kooi Anneke Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands Neuromuscular disorders 2002;12 (10):984-993 [PubMed]
  • 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. Comparison of weakness progression in inclusion body myositis during treatment with methotrexate or placebo Annals of neurology 2002;51 (3):369-372 [PubMed]
  • Wirtz P. W., Sotodeh M., Nijnuis M., van Doorn P. A., van Engelen B. G. M., Hintzen R. Q., de Kort P. L. M., Kuks J. B., Twijnstra A., de Visser M., Visser L. H., Wokke J. H., Wintzen A. R., Verschuuren J. J. Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome Journal of neurology, neurosurgery, and psychiatry 2002;73 (6):766-768 [PubMed]
  • van den Berg-Vos R. M., Franssen H., Visser J., de Visser M., de Haan R. J., Wokke J. H. J., van den Berg L. H. Disease severity in multifocal motor neuropathy and its association with the response to immunoglobulin treatment Journal of neurology 2002;249 (3):330-336 [PubMed]
  • Bronner I. M., van der Meulen M. F. G., Linssen W. H. J. P., Hoogendijk J. E., de Visser M. Drie patiënten met uiteenlopende presentaties van idiopathische inflammatoire myopathie Nederlands tijdschrift voor geneeskunde 2002;146 (18):833-838 [PubMed]
  • van der Kooi A. J., Bonne G., Eymard B., Duboc D., Talim B., van der Valk M., Reiss P., Richard P., Demay L., Merlini L., Schwartz K., Busch H. F. M., de Visser M. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy Neurology 2002;59 (4):620-623 [PubMed]
  • Visser J., van den Berg-Vos R. M., Franssen H., van den Berg L. H., Vogels O. J., Wokke J. H. J., de Jong J. M. B. V., de Visser M. Mimic syndromes in sporadic cases of progressive spinal muscular atrophy Neurology 2002;58 (11):1593-1596 [PubMed]
  • Donner Kati, Ollikainen Miina, Ridanpää Maaret, Christen Hans-Jürgen, Goebel Hans H., de Visser Marianne, Pelin Katarina, Wallgren-Pettersson Carina Mutations in the beta-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy Neuromuscular disorders 2002;12 (2):151-158 [PubMed]
  • Nollet F., Ivanyi B., Beelen A., de Haan R. J., Lankhorst G. J., de Visser M. Perceived health in a population based sample of victims of the 1956 polio epidemic in the Netherlands Journal of neurology, neurosurgery, and psychiatry 2002;73 (6):695-700 [PubMed]
  • Cobben J. M., de Visser M. SMN2 deletion in childhood-onset spinal muscular atrophy American journal of medical genetics 2002;109 (3):246 [PubMed]
  • Bienfait H. M. E., Baas F., Gabreëls-Festen A. A. W. M., Koelman J. H. T. M., Langerhorst C. T., de Visser M. Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot-Marie-Tooth disease associated with light-near dissociation Neuromuscular disorders 2002;12 (3):281-285 [PubMed]
  • den Dunnen J. T., de Visser M., Bakker E. Van gen naar ziekte; het dystrofinegen, betrokken bij Duchenne- en Becker-spierdystrofie Nederlands tijdschrift voor geneeskunde 2002;146 (8):364-ev. [PubMed]

2001

  • Bronner I. M., Linssen W. H., de Visser M. Diagnose in beeld (29). Adulte vorm van proximale spinale spieratrofie Nederlands tijdschrift voor geneeskunde 2001;145 (11):530 [PubMed]
  • de Visser M. Diagnose in beeld (53). Facioscapulohumerale spierdystrofie Nederlands tijdschrift voor geneeskunde 2001;145 (35):1690 [PubMed]
  • Rosenberg N. R., Portegies P., de Visser M., Vermeulen M. Diagnostic investigation of patients with chronic polyneuropathy: evaluation of a clinical guideline Journal of neurology, neurosurgery, and psychiatry 2001;71 (2):205-209 [PubMed]
  • Bastianutto C., Bestard J. A., Lahnakoski K., Broere D., de Visser M., Zaccolo M., Pozzan T., Ferlini A., Muntoni F., Patarnello T., Klamut H. J. Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy Human molecular genetics 2001;10 (23):2627-2635 [PubMed]
  • Wirtz P. W., Roep B. O., Schreuder G. M., van Doorn P. A., van Engelen B. G., Kuks J. B., Twijnstra A., de Visser M., Visser L. H., Wokke J. H., Wintzen A. R., Verschuuren J. J. HLA class I and II in Lambert-Eaton myasthenic syndrome without associated tumor Human immunology 2001;62 (8):809-813 [PubMed]
  • Nollet F., Beelen A., Sargeant A. J., de Visser M., Lankhorst G. J., de Jong B. A. Submaximal exercise capacity and maximal power output in polio subjects Archives of physical medicine and rehabilitation 2001;82 (12):1678-1685 [PubMed]
  • Wirtz P. W., de Keizer R. J., de Visser M., Wintzen A. R., Verschuuren J. J. Tonic pupils in Lambert-Eaton myasthenic syndrome Muscle & nerve 2001;24 (3):444-445 [PubMed]
  • Hoogerwaard E. M., Schouten Y., van der Kooi A. J., Gorgels J. P., de Visser M., Sanders G. T. Troponin T and troponin I in carriers of Duchenne and Becker muscular dystrophy with cardiac involvement Clinical chemistry 2001;47 (5):962-963 [PubMed]
  • Cobben J. M., de Visser M., Scheffer H. Van gen naar ziekte; 'survival'-motorneuroneiwit en erfelijke proximale spinale spieratrofie Nederlands tijdschrift voor geneeskunde 2001;145 (52):2525-2527 [PubMed]

2000

  • Epidemiology of inclusion body myositis in the Netherlands: a nationwide study Neurology 2000;55 (9):1385-1387 [PubMed]
  • Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases Journal of neurology, neurosurgery, and psychiatry 2000;69 (1):114-116 [PubMed]
  • Het hartzeer van een spierdystrofie Nederlands tijdschrift voor geneeskunde 2000;144 (46):2181-2184 [PubMed]
  • Muchir A., Bonne G., van der Kooi A. J., van Meegen M., Baas F., Bolhuis P. A., de Visser M., Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) Human molecular genetics 2000;9 (9):1453-1459 [PubMed]
  • Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography Nucleic acids research 2000;28 (20):E89 [PubMed]
  • Oral pulsed high-dose dexamethasone for myositis Journal of neurology 2000;247 (2):102-105 [PubMed]
  • Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy Journal of neurology 2000;247 (7):524-529 [PubMed]

1999

  • A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies Neuromuscular disorders 1999;9 (8):555-563 [PubMed]
  • Jöbsis G. J., Boers J. M., Barth P. G., de Visser M. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures Brain 1999;122 (4):649-655 [PubMed]
  • Calpainopathy-a survey of mutations and polymorphisms American journal of human genetics 1999;64 (6):1524-1540 [PubMed]
  • Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy Neuromuscular disorders 1999;9 (5):347-351 [PubMed]
  • Disability and functional assessment in former polio patients with and without postpolio syndrome Archives of physical medicine and rehabilitation 1999;80 (2):136-143 [PubMed]
  • Impact of neurologic signs and symptoms on functional status in peripheral neuropathies Neurology 1999;52 (1):151-156 [PubMed]
  • Ivanyi B., Nollet F., Redekop W. K., de Haan R., Wohlgemuht M., van Wijngaarden J. K., de Visser M. Late onset polio sequelae: disabilities and handicaps in a population-based cohort of the 1956 poliomyelitis outbreak in The Netherlands Archives of physical medicine and rehabilitation 1999;80 (6):687-690 [PubMed]
  • Hoogerwaard E. M., Bakker E., Ippel P. F., Oosterwijk J. C., Majoor-Krakauer D. F., Leschot N. J., van Essen A. J., Brunner H. G., van der Wouw P. A., Wilde A. A., de Visser M. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study Lancet 1999;353 (9170):2116-2119 [PubMed]

1998

  • A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy Neuromuscular disorders 1998;8 (5):305-308 [PubMed]
  • Computed tomographic study of the skeletal musculature of the lower body in 45 postpolio patients Muscle & nerve 1998;21 (4):540-542 [PubMed]
  • Dropped head syndrome and bent spine syndrome: two separate clinical entities or different manifestations of axial myopathy? Journal of neurology, neurosurgery, and psychiatry 1998;65 (2):258-259 [PubMed]
  • Genetic heterogeneity in Miyoshi-type distal muscular dystrophy Neuromuscular disorders 1998;8 (5):317-320 [PubMed]
  • Limb girdle muscular dystrophy: a pathological and immunohistochemical reevaluation Muscle & nerve 1998;21 (5):584-590 [PubMed]
  • The heart in limb girdle muscular dystrophy Heart (British Cardiac Society) 1998;79 (1):73-77 [PubMed]

1997

  • Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) Human genetics 1997;99 (4):501-505 [PubMed]
  • Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period Journal of neurology 1997;244 (10):657-663 [PubMed]
  • Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21 American journal of human genetics 1997;60 (4):891-895 [PubMed]
  • Machado-Joseph disease presenting as severe asymmetric proximal neuropathy Journal of neurology, neurosurgery, and psychiatry 1997;63 (4):534-536 [PubMed]
  • Miyoshi-type distal muscular dystrophy. Clinical spectrum in 24 Dutch patients Brain 1997;120 ( Pt 11):1989-1996 [PubMed]
  • Vocational perspectives and neuromuscular disorders International journal of rehabilitation research. Internationale Zeitschrift für Rehabilitationsforschung. Revue internationale de recherches de réadaptation 1997;20 (3):255-273 [PubMed]

1996

  • A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement Annals of neurology 1996;39 (5):636-642 [PubMed]
  • Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies Annals of neurology 1996;40 (4):672-675 [PubMed]
  • Genetic localization of Bethlem myopathy Neurology 1996;46 (3):779-782 [PubMed]
  • Het postpoliosyndroom; de grens van neuromusculaire adaptatie? Nederlands tijdschrift voor geneeskunde 1996;140 (22):1169-1173 [PubMed]
  • Muscle strength in postpolio patients: a prospective follow-up study Muscle & nerve 1996;19 (6):738-742 [PubMed]
  • Prenatal prediction of spinal muscular atrophy. Experience with linkage studies and consequences of present SMN deletion analysis European journal of human genetics 1996;4 (4):231-236 [PubMed]
  • Sleep complaints in postpolio syndrome Archives of physical medicine and rehabilitation 1996;77 (6):609-611 [PubMed]
  • The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands Brain 1996;119 ( Pt 5):1471-1480 [PubMed]
  • Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease Neurology 1996;47 (3):761-765 [PubMed]
  • Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures Nature genetics 1996;14 (1):113-115 [PubMed]
  • Vooralsnog ziekte van Duchenne niet behandelen met prednison Nederlands tijdschrift voor geneeskunde 1996;140 (21):1109-1111 [PubMed]

1995

  • A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis Neuromuscular disorders 1995;5 (6):441-443 [PubMed]
  • Cobben J. M., van der Steege G., Grootscholten P., de Visser M., Scheffer H., Buys C. H. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy American journal of human genetics 1995;57 (4):805-808 [PubMed]
  • Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects Journal of the neurological sciences 1995;129 (Suppl):56-57 [PubMed]
  • Ziekten veroorzaakt door mitochondriale DNA-mutaties Nederlands tijdschrift voor geneeskunde 1995;139 (26):1322-1326 [PubMed]
  • Ziekte van Wilson; ontmaskering met behulp van kernspinresonantie-tomografie Nederlands tijdschrift voor geneeskunde 1995;139 (15):796-799 [PubMed]

1994

  • Apparent SMA I unlinked to 5q Journal of medical genetics 1994;31 (3):242-244 [PubMed]
  • Dysphagia in postpolio patients: a videofluorographic follow-up study Dysphagia 1994;9 (2):96-98 [PubMed]
  • Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype Muscle & nerve 1994;17 (1):85-90 [PubMed]
  • Limb girdle muscular dystrophy: reappraisal of a rejected entity Clinical neurology and neurosurgery 1994;96 (3):209-218 [PubMed]
  • Macro EMG follow-up study in post-poliomyelitis patients Journal of neurology 1994;242 (1):37-40 [PubMed]

1993

  • Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A Human molecular genetics 1993;2 (12):2143-2146 [PubMed]
  • Confirmation of clinical diagnosis in requests for prenatal prediction of SMA type I Journal of neurology, neurosurgery, and psychiatry 1993;56 (3):319-321 [PubMed]
  • Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B Nature genetics 1993;5 (1):35-39 [PubMed]
  • Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia Neuromuscular disorders 1993;3 (1):77-79 [PubMed]
  • Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy Neurology 1993;43 (1):218-221 [PubMed]
  • Linkage and apparent heterogeneity in proximal spinal muscular atrophies Neuromuscular disorders 1993;3 (4):327-333 [PubMed]
  • Toepassing van gecombineerde DNA- en dystrofine-eiwitanalyse in de diagnostiek van Duchenne- en van Becker-spierdystrofie bij 102 Nederlandse patiënten Nederlands tijdschrift voor geneeskunde 1993;137 (2):68-75 [PubMed]

1992

  • Conduction block in hereditary motor and sensory neuropathy type I Muscle & nerve 1992;15 (4):520-1; author reply 523 [PubMed]
  • Valentijn L. J., Baas F., Wolterman R. A., Hoogendijk J. E., van den Bosch N. H., Zorn I., Gabreëls-Festen A. W., de Visser M., Bolhuis P. A. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A Nature genetics 1992;2 (4):288-291 [PubMed]
  • Myopathieën in het beloop van de HIV-infectie Nederlands tijdschrift voor geneeskunde 1992;136 (30):1446-1449 [PubMed]
  • Polio en het post-poliosyndroom TVZ 1992 (20):706-708 [PubMed]
  • Secondary changes of the motor endplate in Lambert-Eaton myasthenic syndrome: a quantitative study Acta neuropathologica 1992;83 (2):202-206 [PubMed]
  • Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type I Journal of neurology 1992;239 (5):277-283 [PubMed]
  • The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy Muscle & nerve 1992;15 (5):591-596 [PubMed]
  • The postpolio syndrome: no evidence for poliovirus persistence Annals of neurology 1992;32 (6):728-732 [PubMed]

1991

  • A family with severe X-linked arthrogryposis European journal of pediatrics 1991;150 (9):656-660 [PubMed]
  • Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy Neuromuscular disorders 1991;1 (6):389-391 [PubMed]
  • DNA-onderzoek bij proximale spinale spieratrofieën Nederlands tijdschrift voor geneeskunde 1991;135 (30):1340-1342 [PubMed]
  • Duplicatie van DNA bij hereditaire motorische en sensibele neuropathie (ziekte van Charcot-Marie-Tooth) type Ia Nederlands tijdschrift voor geneeskunde 1991;135 (51):2412-2414 [PubMed]
  • Raeymaekers P., Timmerman V., Nelis E., de Jonghe P., Hoogendijk J. E., Baas F., Barker D. F., Martin J. J., de Visser M., Bolhuis P. A. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group Neuromuscular disorders 1991;1 (2):93-97 [PubMed]
  • The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2 Human genetics 1991;88 (2):215-218 [PubMed]

1990

  • Accuracy and interobserver variation in the interpretation of computed tomography in solitary brain lesions Archives of neurology 1990;47 (5):520-523 [PubMed]
  • An unusual variant of Becker muscular dystrophy Annals of neurology 1990;27 (5):578-581 [PubMed]
  • Calf enlargement in hereditary motor and sensory neuropathy Muscle & nerve 1990;13 (1):40-46 [PubMed]
  • Defesche J. C., Hoogendijk J. E., de Visser M., de Visser O., Bolhuis P. A. Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17 Neurology 1990;40 (9):1450-1453 [PubMed]

1989

  • Early ultrastructural alterations in adult dermatomyositis. Capillary abnormalities precede other structural changes in muscle Journal of the neurological sciences 1989;94 (1-3):181-192 [PubMed]
  • Initial bolus of conventional versus high-dose dexamethasone in metastatic spinal cord compression Neurology 1989;39 (9):1255-1257 [PubMed]
  • Intramedullary spinal cord metastasis following a slowly progressive course Journal of neurology, neurosurgery, and psychiatry 1989;52 (12):1451-1452 [PubMed]
  • Mosaic 47,XY,+8/48,XXYY in a mentally non-retarded man with phenotypical and neurological abnormalities Clinical genetics 1989;35 (6):446-449 [PubMed]
  • Supratentorial meningeal spread from brainstem glioma Journal of neurology, neurosurgery, and psychiatry 1989;52 (8):1011-1013 [PubMed]

1988

  • Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family Journal of the neurological sciences 1988;88 (1-3):241-246 [PubMed]
  • De betekenis van verhoogde creatine-kinase-activiteit in het serum van patiënten zonder primair neuromusculaire ziekte Nederlands tijdschrift voor geneeskunde 1988;132 (23):1081-1083 [PubMed]
  • Diagnostiek van neuromusculaire ziekten met behulp van computertomografie Nederlands tijdschrift voor geneeskunde 1988;132 (23):1061-1064 [PubMed]
  • Electromyographic and computed tomographic findings in five patients with monomelic spinal muscular atrophy European neurology 1988;28 (3):135-138 [PubMed]
  • Lymphomatoid granulomatosis: clinical and histopathological report of a patient presenting with spinal cord involvement Journal of neurology 1988;235 (7):432-434 [PubMed]
  • Persistent hyperCKemia: fourteen patients studied in retrospect Acta neurologica Scandinavica 1988;77 (1):60-63 [PubMed]
  • Rapid determination of the hypoxanthine increase in ischemic exercise tests Clinical chemistry 1988;34 (8):1607-1610 [PubMed]

1987

  • Het post polio-syndroom Nederlands tijdschrift voor geneeskunde 1987;131 (39):1703-1705 [PubMed]

1986

  • Pseudohypertrophy of the calf following S1 radiculopathy Neuroradiology 1986;28 (3):279-280 [PubMed]
  • Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset Neurology 1986;36 (3):367-372 [PubMed]

1985

  • Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy Clinical genetics 1985;27 (3):269-275 [PubMed]
  • Computed tomography of the skeletal musculature in Becker-type muscular dystrophy and benign infantile spinal muscular atrophy Muscle & nerve 1985;8 (5):435-444 [PubMed]
  • DNA-onderzoek en erfelijkheidadviezen Nederlands tijdschrift voor geneeskunde 1985;129 (24):1134-1136 [PubMed]

1984

  • Histopathological findings in Becker-type muscular dystrophy Archives of neurology 1984;41 (7):729-733 [PubMed]

1983

  • Computed tomographic findings of the skeletal musculature in sporadic distal myopathy with early adult onset Journal of the neurological sciences 1983;59 (3):331-339 [PubMed]