Marianna Bugiani

DRS., Dr.

20102019
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Personal profile

External positions

neuropathologist, Academic Medical Centre (AMC)

1 Jan 2017 → …

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Research Output 2010 2019

Astroglia in leukodystrophies

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

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

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 othersSalomons, G. S. & Mochel, F., 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., 2019, In : Orphanet Journal of Rare Diseases. 14, 1, 33.

Research output: Contribution to journalReview articleAcademicpeer-review

Open Access

Vanishing white matter: deregulated integrated stress response as therapy target

Abbink, T. E. M., Wisse, L. E., Jaku, E., Thiecke, M. J., Voltolini-González, D., Fritsen, H., Bobeldijk, S., ter Braak, T. J., Polder, E., Postma, N. L., Bugiani, M., Struijs, E. A., Verheijen, M., Straat, N., van der Sluis, S., Thomas, A. A. M., Molenaar, D. & van der Knaap, M. S., 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1407-1422

Research output: Contribution to journalArticleAcademicpeer-review

Open Access