20072020

Research output per year

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Personal profile

External positions

neuropathologist, Academic Medical Centre (AMC)

1 Jan 2017 → …

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Research Output

Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome

Staps, P., Rizzo, W. B., Vaz, F. M., Bugiani, M., Giera, M., Heijs, B., van Kampen, A. H. C., Pras-Raves, M. L., Breur, M., Groen, A., Ferdinandusse, S., van der Graaf, M., Van Goethem, G., Lammens, M., Wevers, R. A. & Willemsen, M. A. A. P., 1 Jan 2020, (Accepted/In press) In : Journal of Inherited Metabolic Disease.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Endothelin-1 signaling maintains glial progenitor proliferation in the postnatal subventricular zone

Adams, K. L., Riparini, G., Banerjee, P., Breur, M., Bugiani, M. & Gallo, V., 1 Dec 2020, In : Nature Communications. 11, 1, 2138.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Astroglia in leukodystrophies

Jorge, M. S. & Bugiani, M., 1 Jan 2019, Advances in Experimental Medicine and Biology. Springer New York LLC, Vol. 1175. p. 199-225 27 p. (Advances in Experimental Medicine and Biology; vol. 1175).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Open Access

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

van der Knaap, M. S., Bugiani, M., Mendes, M. I., Riley, L. G., Smith, D. E. C., Rudinger-Thirion, J., Frugier, M., Breur, M., Crawford, J., van Gaalen, J., Schouten, M., Willems, M., Waisfisz, Q., Mau-Them, F. T., Rodenburg, R. J., Taft, R. J., Keren, B., Christodoulou, J., Depienne, C., Simons, C. & 2 others, Salomons, G. S. & Mochel, F., 12 Mar 2019, In : Neurology. 92, 11, p. E1225-E1237

Research output: Contribution to journalArticleAcademicpeer-review