20072019

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

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

Gastrointestinal Dysmotility in MNGIE: From thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal

Yadak, R., Breur, M. & Bugiani, M., 8 Feb 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 33.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21

Schut, P. C., ten Broek, C. M. A., Cohen-Overbeek, T. E., Bugiani, M., Steegers, E. A. P., Eggink, A. J. & Galis, F., 18 Jul 2019, In : Journal of Maternal-Fetal and Neonatal Medicine. 32, 14, p. 2280-2286

Research output: Contribution to journalArticleAcademicpeer-review

Open Access