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Shanice Beerepoot

vrije universiteit amsterdam and amsterdam neuroscience

12H-index
32Paper Count
500Citation Count
Published Papers 18
Publication Date
The ILLUMINATE natural history study in colony-stimulating factor 1 receptor-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
err2026-07-14
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errDavid S Lynch; Charles Wade; Ludger Schöls; Stefanie N Hayer; Jeffrey M Gelfand; Wolfgang Köhler; Christa-Caroline Bergner; Paulo Victor Sgobbi de Souza; Elizabeth C Finger; Nicole I Wolf; Shanice Beerepoot; Jennifer L Orthmann-Murphy; Tomasz Chmiela; Raj Rajagovindan; Donald G McLaren; Francois Gaudreault; Christian Mirescu; Denitza Raitcheva; Andreas Meier; David Gray; Juan Chavez; Petra Kaufmann; Zbigniew K Wszolek
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A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS)
err2026-02-08
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errAnjana Sevagamoorthy; Francesco Gavazzi; Zarrin Tashnim; Peter Hong; Ylenia Vaia; Min Ae Lee-Kirsch; Despina Eleftheriou; Shanice Beerepoot; Marie Hully; Elizabeth M. Berry Kravis; Pamela Ventola; Melissa Raspa; Anne Wheeler; Sara B. DeMauro; Allan M. Glanzman; Elise Townsend; Tina Duong; Stacy Cusack; Ann T. Harrington; Samuel Pierce
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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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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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Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder
err2025-07-11
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errHemmo A.F. Yska MD; Marianne Golse MD; Shanice Beerepoot MD; Stefanie Hayer MD; Caroline Bergner MD; Anderson Rodrigues Brandao de Paiva MD, PhD
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Comparison of children and adults undergoing subdural grid electrode implantation or stereoelectroencephalography in a refractory epilepsy cohort from four European centers
err2025-05-20
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errMatea Rados; Shanice Beerepoot; Martin M. Tisdall; Ronit M. Pressler; J. Helen Cross; Rachel C. Thornton; Beate Diehl; Andrew W. McEvoy; Anna Miserocchi; Josemir W. Sander; John S. Duncan; Jane de Tisi; Francesco Cardinale; Laura Tassi; Giorgio Lo Russo; Stefano Francione; Herm J. Lamberink; Frans S. S. Leijten; Willem M. Otte; Sandra M. A. van der Salm; Kees P. J. Braun; Pieter van Eijsden
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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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errBeerepoot, Shanice; Grinwis, Lucas; Vanderver, Adeline L.; van der Knaap, Marjo S.; Kuijpers, Taco W.
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Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
err2024-11-28
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errSchoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca
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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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errBeerepoot, Shanice; Wolf, Nicole I.; van der Knaap, Marjo S.; Nierkens, Stefan; Plantinga, Maud
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Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference ranges
err2024-01-15
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errBayoumy, Sherif; Verberk, Inge M. W.; Vermunt, Lisa; Willemse, Eline; den Dulk, Ben; van der Ploeg, Ans T.; Pajkrt, Dasja; Nitz, Elisa; van den Hout, Johanna M. P.; van der Post, Julie; Wolf, Nicole I.; Beerepoot, Shanice; Groen, Ewout J. N.; Tuengler, Victoria; Teunissen, Charlotte E.
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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
err2023-05-22
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errAl-Saady, Murtadha; Beerepoot, Shanice; Plug, Bonnie C.; Breur, Marjolein; Galabova, Hristina; Pouwels, Petra J. W.; Boelens, Jaap-Jan; Lindemans, Caroline; van Hasselt, Peter M.; Matzner, Ulrich; Vanderver, Adeline; Bugiani, Marianna; van Der Knaap, Marjo S.; Wolf, Nicole I.
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Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
err2022-11-05
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errSchoenmakers, Daphne H.; Beerepoot, Shanice; Krageloh-Mann, Ingeborg; Elgun, Saskia; Bender, Benjamin; van der Knaap, Marjo S.; Wolf, Nicole, I; Groeschel, Samuel
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Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
err2022-06-17
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errBerdowski, Woutje M.; van der Linde, Herma C.; Breur, Marjolein; Oosterhof, Nynke; Beerepoot, Shanice; Sanderson, Leslie; Wijnands, Lieve I.; de Jong, Patrick; Tsai-Meu-Chong, Elisa; de Valk, Walter; de Witte, Moniek; van IJcken, Wilfred F. J.; Demmers, Jeroen; van der Knaap, Marjo S.; Bugiani, Marianna; Wolf, Nicole I.; van Ham, Tjakko J.
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Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
err2022-02-14
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errSchoenmakers, Daphne H.; Beerepoot, Shanice; van den Berg, Sibren; Adang, Laura; Bley, Annette; Boelens, Jaap-Jan; Fumagalli, Francesca; Goettsch, Wim G.; Gronborg, Sabine; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Lindemans, Caroline; Mochel, Fanny; Mol, Peter G. M.; Sevin, Caroline; Zerem, Ayelet; Schols, Ludger; Wolf, Nicole, I
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The effect of intrathecal recombinant arylsulfatase A therapy on demyelination load in children with metachromatic leukodystrophy
err2022-02-01
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PREAI
errGroeschel, Samuel; Beerepoot, Shanice; Amedick, Lucas Bastian; Krageloh-Mann, Ingeborg; Li, Jing; Whiteman, David A. H.; Wolf, Nicole I.; Port, John D.
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Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
errBRAIN
IF11.7
err2021-08-16
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errBeerepoot, Shanice; Heijst, Hans; Roos, Birthe; Wamelink, Mirjam M. C.; Boelens, Jaap Jan; Lindemans, Caroline A.; van Hasselt, Peter M.; Jacobs, Edwin H.; van der Knaap, Marjo S.; Teunissen, Charlotte E.; Wolf, Nicole, I
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Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
err2020-01-22
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errWolf, Nicole, I; Breur, Marjolein; Plug, Bonnie; Beerepoot, Shanice; Westerveld, Aimee S. R.; van Rappard, Diane F.; de Vries, Sharon, I; Kole, Maarten H. P.; Vanderver, Adeline; van der Knaap, Marjo S.; Lindemans, Caroline A.; van Hasselt, Peter M.; Boelens, Jaap J.; Matzner, Ulrich; Gieselmann, Volkmar; Bugiani, Marianna
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RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum
err2019-12-08
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errMendes, Marisa, I; Green, Lydia M. C.; Bertini, Enrico; Tonduti, Davide; Aiello, Chiara; Smith, Desiree; Salsano, Ettore; Beerepoot, Shanice; Hertecant, Jozef; von Spiczak, Sarah; Livingston, John H.; Emrick, Lisa; Fraser, Jamie; Russell, Laura; Bernard, Genevieve; Magri, Stefania; Di Bella, Daniela; Taroni, Franco; Koenig, Mary K.; Moroni, Isabella; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rhee, Jullie; Mendelsohn, Bryce A.; Helbig, Ingo; Helbig, Katherine; Muhle, Hiltrud; Ismayl, Omar; Vanderver, Adeline L.; Salomons, Gajja S.; van der Knaap, Marjo S.; Wolf, Nicole, I
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Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
err2019-11-04
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errBeerepoot, Shanice; Nierkens, Stefan; Boelens, Jaap Jan; Lindemans, Caroline; Bugiani, Marianna; Wolf, Nicole I.
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