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Neurogenetics|July 8, 2020
Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patientsShanice Beerepoot, Silvy J M van Dooren, Gajja S Salomons, et al.
Journal of Inherited Metabolic Disease|March 2, 2024
Longitudinal volumetric analysis of gray matter atrophy in metachromatic leukodystrophyMurtadha L Al-Saady, Hristina Galabova, Daphne H Schoenmakers, et al.
Brain : a Journal of Neurology|August 16, 2021
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophyShanice Beerepoot, Hans Heijst, Birthe Roos, et al.
Annals of Clinical and Translational Neurology|May 22, 2023
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophyMurtadha Al-Saady, Shanice Beerepoot, Bonnie C Plug, et al.
Clinical Chemistry and Laboratory Medicine|January 12, 2024
Neurofilament light protein as a biomarker for spinal muscular atrophy: a review and reference rangesSherif Bayoumy, Inge M W Verberk, Lisa Vermunt, et al.
Annals of Clinical and Translational Neurology|January 23, 2020
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correctionNicole I Wolf, Marjolein Breur, Bonnie Plug, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Acta Neuropathologica|June 17, 2022
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophyWoutje M Berdowski, Herma C van der Linde, Marjolein Breur, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 12, 2025
Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related DisorderHemmo A F Yska, Marianne Golse, Shanice Beerepoot, et al.
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