Personal profile
Specialisation
Child neurology
Leukodystrophy
Neurogenetics
MR imaging
Clinical trials
Gene therapy
Research interests
I work on leukodystrophies, mainly on metachromatic leukodystrophy (MLD) and hypomyelinating diseases (HLDs). Regarding MLD, I focus on disease and treatment mechanisms, using MRI, biomarkers and brain tissue. We also investigate genotype-phenotype relationships.
HLDs are a group of heterogeneous leukodystrophies, with a wide variation in clinical presentation and late, slow neurodegeneration. My research tries to understand the different presentations and process of degeneration, using advanced MR techniques and biomarkers.
In addition, better treatments of leukodystrophies are a main goal. We are conducting clinical trials, either as investigator-initiated trial (e.g. deferiprone for Pelizaeus-Merzbacher disease) or as a trial site for an industry-sponsored trial.
Related documents
Keywords
- RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Fingerprint
- 1 Similar Profiles
Collaborations and top research areas from the last five years
-
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction
Wolf, N. I., Breur, M., Plug, B., Beerepoot, S., Westerveld, A. S. R., van Rappard, D. F., de Vries, S. I., Kole, M. H. P., Vanderver, A., van der Knaap, M. S., Lindemans, C. A., van Hasselt, P. M., Boelens, J. J., Matzner, U., Gieselmann, V. & Bugiani, M., 1 Feb 2020, In: Annals of clinical and translational neurology. 7, 2, p. 169-180 12 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile17 Downloads (Pure) -
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions
Asbreuk, M. A. B. C., Schoenmakers, D. H., Adang, L. A., Beerepoot, S., Bergner, C., Bley, A., Boelens, J. J., Bugiani, M., Calbi, V., García-Cazorla, À., Eklund, E. A., Fumagalli, F., Grønborg, S. W., Groeschel, S., van Hasselt, P. M., Hollak, C. E. M., Jones, S. A., de Koning, T. J., van Kuilenburg, A. B. P. & Laugwitz, L. & 10 others, , 27 Jun 2025, In: Neurology. 105, 2, 10.1212/WNL.0000000000213817.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile32 Downloads (Pure) -
Hypomyelinating leukodystrophies — unravelling myelin biology
Wolf, N. I., ffrench-Constant, C. & van der Knaap, M. S., 1 Feb 2021, In: Nature reviews. Neurology. 17, 2, p. 88-103 16 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open AccessFile37 Downloads (Pure) -
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
Al-Saady, M., Beerepoot, S., Plug, B. C., Breur, M., Galabova, H., Pouwels, P. J. W., Boelens, J.-J., Lindemans, C., van Hasselt, P. M., Matzner, U., Vanderver, A., Bugiani, M., van der Knaap, M. S. & Wolf, N. I., 1 Jul 2023, In: Annals of clinical and translational neurology. 10, 7, p. 1146-1159 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile29 Downloads (Pure) -
Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
Beerepoot, S., Heijst, H., Roos, B., Wamelink, M. M. C., Boelens, J. J., Lindemans, C. A., van Hasselt, P. M., Jacobs, E. H., van der Knaap, M. S., Teunissen, C. E. & Wolf, N. I., 29 Mar 2022, In: Brain. 145, 1, p. 105-118 14 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile30 Downloads (Pure)