Research output per year
Research output per year
Personal profile
Keywords
- RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
- Leukodystrophy, hypomyelination, treatment, MRI
Network
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
-
Cortical interneuron development is affected in 4H leukodystrophy
Dooves, S., Kok, L. M. L., Holmes, D. B., Breeuwsma, N., Breur, M., Bugiani, M., Wolf, N. I. & Heine, V. M., 2 Feb 2023, (E-pub ahead of print) In: Brain : a journal of neurology.Research output: Contribution to journal › Article › Academic › peer-review
-
Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy
Beerepoot, S., Wolf, N. I., Wehner, K., Bender, B., van der Knaap, M. S., Krägeloh-Mann, I. & Groeschel, S., 1 Mar 2022, In: European Journal of Paediatric Neurology. 37, p. 87-93 7 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access3 Citations (Scopus) -
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy
Berdowski, W. M., van der Linde, H. C., Breur, M., Oosterhof, N., Beerepoot, S., Sanderson, L., Wijnands, L. I., de Jong, P., Tsai-Meu-Chong, E., de Valk, W., de Witte, M., van IJcken, W. F. J., Demmers, J., van der Knaap, M. S., Bugiani, M., Wolf, N. I. & van Ham, T. J., 1 Aug 2022, In: Acta Neuropathologica. 144, 2, p. 211-239 29 p.Research output: Contribution to journal › Article › Academic › peer-review
Open Access3 Citations (Scopus) -
Erratum: De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy (The American Journal of Human Genetics (2021) 108(1) (186–193), (S0002929720304389), (10.1016/j.ajhg.2020.12.002))
Djordjevic, D., Pinard, M., Gauthier, M-S., Smith-Hicks, C., Hoffman, T. L., Wolf, N. I., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S. B., Coulombe, B. & Yoon, G., 7 Apr 2022, In: American journal of human genetics. 109, 4, p. 759-763 5 p.Research output: Contribution to journal › Comment/Letter to the editor › Academic
Open Access -
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Wortmann, S. B., Oud, M. M., Alders, M., Coene, K. L. M., van der Crabben, S. N., Feichtinger, R. G., Garanto, A., Hoischen, A., Langeveld, M., Lefeber, D., Mayr, J. A., Ockeloen, C. W., Prokisch, H., Rodenburg, R., Waterham, H. R., Wevers, R. A., van de Warrenburg, B. P. C., Willemsen, M. A. A. P., Wolf, N. I., Vissers, L. E. L. M., & 1 others, Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 663-681 19 p.Research output: Contribution to journal › Review article › Academic › peer-review
Open Access2 Citations (Scopus)