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Marjo S. van der Knaap

amsterdam university medical centre

98H-index
804Paper Count
3.4WCitation Count
Published Papers 223
Publication Date
The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study
err2025-12-16
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errOAAI
errAdam Le; Kelly-Ann Thibault; Pouneh Amir Yazdani; Alexandra Chapleau; Romy J. van Voorst; Enrico Bertini; Francesco Nicita; Daniela Pohl; Sunita Venkateswaran; Stephanie Keller; Deborah Renaud; Dolores Gonzalez Moron; Marcelo Kauffman; Danilo De Assis Pereira; Adeline Vanderver; Marjo S. van der Knaap; Maxime Morsa; Geneviève Bernard
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Altered Mechanical Properties of Astrocytes Lacking MLC1: Implications for the Leukodystrophy MLC
errGlia
IF5.1
err2025-12-02
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errOAAI
errQuinty Bisseling; Emma M. J. Passchier; Freya M. Kirwan; Nelda Antonovaite; Serena Camerini; Maria S. Brignone; Amélie Freal; Huibert D. Mansvelder; Elena Ambrosini; Marjo S. van der Knaap; Rogier Min
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Endogenous Repair in Vanishing White Matter
err2025-10-27
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errOAAI
errBonnie C. Plug MSc; Jodie H.K. Man MSc; Marjolein Breur BSc; Erik Nutma PhD; Menno D. Stellingwerff MD; Truus E.M. Abbink PhD; Marianna Bugiani MD, PhD; Marjo S. van der Knaap MD, PhD.
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Critical functional domains in pediatric onset TUBB4A-related leukodystrophy: a clinical and caregiver’s perspective
err2025-10-03
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PREAI
errFrancesco Gavazzi; Virali Patel; Jacqueline A. Erler; Brittany Charsar; Ylenia Vaia; Anjana Sevagamoorthy; Ariel Vincent; Sarah Woidill; Evangeline Wassmer; Henry Houlden; Angeles Garcia- Cazorla; Davide Tonduti; Nicole I. Wolf; Marjo Van der Knaap; Geneviève Bernard; Laura A. Adang; Adeline Vanderver
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Cell-specific Eif2b5 mutant mice: novel insights into roles of macroglia in vanishing white matter
errBRAIN
IF11.7
err2025-10-01
err1
PREAI
errTrinanes-Ramos, Javier; Bugiani, Marianna; van Rooijen-van Leeuwen, Gemma M.; Chevalier, Juliette A.; Siu, Yuan Jiew; van Utenhove, Elise L. H.; Hoogterp, Leoni; Witkamp, Diede; Oudejans, Ellen; Lodder, Bastiaan; Kole, Maarten H. P.; Saher, Gesine; Nave, Klaus-Armin; Abbink, Truus E. M.; van der Knaap, Marjo S.
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The impact of vanishing white matter on unaffected family members
err2025-08-28
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errOAAI
errRomy J. van Voorst; Daphne H. Schoenmakers; Irene van Beelen; Francesco Gavazzi; Alexandra Chapleau; Adeline Vanderver; Geneviève Bernard; Ingeborg Krägeloh-Mann; Marjo S. van der Knaap
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ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
err2025-08-02
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errOAAI
errShanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf
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Impaired Volume Regulation and Electrophysiology of Astrocytes In Situ in a Mouse Model for Megalencephalic Leukoencephalopathy With Subcortical Cysts
errGLIA
IF5.1
err2025-05-30
err0
errOAAI
errSven Kerst; Nina Meesters; Tim S. Heistek; Marjo S. van der Knaap; Huibert D. Mansvelder; Rogier Min
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Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1
err2025-04-02
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errOAAI
errBeerepoot, Shanice; Grinwis, Lucas; Vanderver, Adeline L.; van der Knaap, Marjo S.; Kuijpers, Taco W.
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The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
err2025-03-01
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PREAI
errGavazzi, Francesco; Charsar, Brittany; Hamilton, Eline; Erler, Jacqueline A.; Patel, Virali; Woidill, Sarah; Sevagamoorthy, Anjana; Helman, Guy; Schmidt, Johanna; Pizzino, Amy; Muirhead, Kayla; Takanohashi, Asako; Bonkowsky, Joshua L.; Meyerhoffer, Kelsee; Simons, Cas; Doi, Hiroshi; Satoko, Miyatake; Matsumoto, Naomichi; Delgado, Mauricio R.; Sanchez-Castillo, Meredith; Wang, Jingming; de Carvalho, Daniel Rocha; Tournev, Ivailo; Chamova, Teodora; Jordanova, Albena; Clegg, Nancy J.; Nicita, Francesco; Bertini, Enrico; Teng, Michelle; Williams, Dan; Tonduti, Davide; Houlden, Henry; Stellingwerff, Menno; Wassmer, Evangeline; Garcia-Cazorla, Angeles; Bernard, Genevieve; Mirchi, Amytice; Toutounchi, Helia; Wolf, Nicole I.; van der Knaap, Marjo S.; Shults, Justine; Adang, Laura A.; Vanderver, Adeline L.
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Myelin-water imaging and multi-shell diffusion-weighted imaging in adults with adrenoleukodystrophy
err2025-01-01
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PREAI
errYska, Hemmo A. F.; Stellingwerff, Menno D.; Roosendaal, Stefan D.; Voermans, Marije M. C.; van der Knaap, Marjo S.; Pouwels, Petra J. W.; Engelen, Marc
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Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell development
err2024-10-01
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errOAAI
errBeerepoot, Shanice; Wolf, Nicole I.; van der Knaap, Marjo S.; Nierkens, Stefan; Plantinga, Maud
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Framework for Multistakeholder Patient Registries in the Field of Rare Diseases
err2024-09-24
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errOAAI
errSchoenmakers, Daphne H.; van den Berg, Sibren; Timmers, Lonneke; Adang, Laura A.; Baumer, Tobias; Bosch, Annet; van de Casteele, Marc; Datema, Mareen R.; Dekker, Hanka; Donnelly, Conan; Driessens, Mariette H. E.; Graessner, Holm; Greger, Valerie; Haddad, Tala; Hoglinger, Gunter U.; van den Hout, Hannerieke; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J.; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas; van der Knaap, Marjo S.; Papadopoulou, Andri; Plueschke, Kelly; van Rijn, Sanne; Rosenberg, Noa; Saunier-Vivar, Elise F.; Vieira, Bruna dos Santos; Hollak, Carla E. M.; Goettsch, Wim G.; Wolf, Nicole I.
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Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
err2024-09-23
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errOAAI
errKlouwer, Femke C. C.; Roosendaal, Stefan D.; Hollak, Carla E. M.; Langeveld, Mirjam; Poll-The, Bwee Tien; van Sorge, Arlette J.; Wolf, Nicole I.; van der Knaap, Marjo S.; Engelen, Marc
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Region-specific and age-related differences in astrocytes in the human brain
err2024-08-01
err2
errOAAI
errMan, Jodie H. K.; Breur, Marjolein; van Gelder, Charlotte A. G. H.; Marcon, Gabriella; Maderna, Emanuela; Giaccone, Giorgio; Altelaar, Maarten; van der Knaap, Marjo S.; Bugiani, Marianna
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MALIGNANT GLIOMA IN L-2-HYDROXY GLUTARIC ACIDURIA; THOROUGH MOLECULAR CHARACTERIZATION OF A CASE AND LITERATURE REVIEW
err2024-06-18
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errOAAI
errCordier, Fleur; Wesseling, Pieter; Tops, Bastiaan B. J.; Kester, Lennart; French, Pim J.; van den Bent, Martin; Hinz, Felix; Aronica, Eleonora; Slot, K. Mariam; Abbink, Floor; van der Knaap, Marjo; Kranendonk, Mariette E. G.
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Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies
err2024-05-31
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errOAAI
errPlug, Bonnie C.; Revers, Ilma M.; Breur, Marjolein; Gonzalez, Gema Munoz; Timmerman, Jaap A.; Meijns, Niels R. C.; Hamberg, Daniek; Wagendorp, Jikke; Nutma, Erik; Wolf, Nicole I.; Luchicchi, Antonio; Mansvelder, Huibert D.; van Til, Niek P.; van der Knaap, Marjo S.; Bugiani, Marianna
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