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Marjo S. van der Knaap

amsterdam university medical centre

98H指数
804论文数
3.4W被引数
收录论文 223
发表时间
The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative StudyPOLR3相关脑白质营养不良对未受影响的家庭成员的影响:一项定性研究
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缺乏MLC1的星形胶质细胞的机械特性改变:对MLC白质营养不良的启示
errGlia
IF5.1
err2025-12-02
err0
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范氏白质溶解症的内源性修复
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儿童期发病的TUBB4A相关白质脑病的核心功能域:临床与照护者视角
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细胞特异性Eif2b5基因突变小鼠:关于少突胶质细胞在髓鞘消失病变中作用的新见解
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弥漫性白质萎缩对未受影响家庭成员的影响
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 LeukodystrophyARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关
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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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
err0
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髓鞘水成像和多壳扩散加权成像在肾上腺脑白质营养不良成人患者中的应用
err2025-01-01
err0
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
err1
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人类死后器官型脑切片培养: 研究病理机制和测试疗法的工具
err2024-05-31
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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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