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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy.
Al-Saady M, Beerepoot S, Plug BC, Breur M, Galabova H, Pouwels PJW, Boelens JJ, Lindemans C, van Hasselt PM, Matzner U, Vanderver A, Bugiani M, van der Knaap MS, Wolf NI. Al-Saady M, et al. Among authors: bugiani m. Ann Clin Transl Neurol. 2023 Jul;10(7):1146-1159. doi: 10.1002/acn3.51796. Epub 2023 May 22. Ann Clin Transl Neurol. 2023. PMID: 37212343 Free PMC article.
Cortical Pathology in Vanishing White Matter.
Man JHK, van Gelder CAGH, Breur M, Okkes D, Molenaar D, van der Sluis S, Abbink T, Altelaar M, van der Knaap MS, Bugiani M. Man JHK, et al. Among authors: bugiani m. Cells. 2022 Nov 12;11(22):3581. doi: 10.3390/cells11223581. Cells. 2022. PMID: 36429009 Free PMC article.
Cortical interneuron development is affected in 4H leukodystrophy.
Dooves S, Kok LML, Holmes DB, Breeuwsma N, Breur M, Bugiani M, Wolf NI, Heine VM. Dooves S, et al. Among authors: bugiani m. Brain. 2023 Jul 3;146(7):2846-2860. doi: 10.1093/brain/awad017. Brain. 2023. PMID: 36729681 Free PMC article.
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.
Passchier EMJ, Kerst S, Brouwers E, Hamilton EMC, Bisseling Q, Bugiani M, Waisfisz Q, Kitchen P, Unger L, Breur M, Hoogterp L, de Vries SI, Abbink TEM, Kole MHP, Leurs R, Vischer HF, Brignone MS, Ambrosini E, Feillet F, Born AP, Epstein LG, Mansvelder HD, Min R, van der Knaap MS. Passchier EMJ, et al. Among authors: bugiani m. Brain. 2023 Aug 1;146(8):3444-3454. doi: 10.1093/brain/awad146. Brain. 2023. PMID: 37143309 Free PMC article.
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Bugiani M, Abbink TEM, Edridge AWD, van der Hoek L, Hillen AEJ, van Til NP, Hu-A-Ng GV, Breur M, Aiach K, Drevot P, Hocquemiller M, Laufer R, Wijburg FA, van der Knaap MS. Bugiani M, et al. Ann Clin Transl Neurol. 2023 Jun;10(6):904-917. doi: 10.1002/acn3.51772. Epub 2023 May 11. Ann Clin Transl Neurol. 2023. PMID: 37165777 Free PMC article.
The neurovascular unit in diffuse intrinsic pontine gliomas.
El-Khouly FE, Haumann R, Breur M, Veldhuijzen van Zanten SEM, Kaspers GJL, Hendrikse NH, Hulleman E, van Vuurden DG, Bugiani M. El-Khouly FE, et al. Among authors: bugiani m. Free Neuropathol. 2021 Jul 5;2:2-17. doi: 10.17879/freeneuropathology-2021-3341. eCollection 2021 Jan. Free Neuropathol. 2021. PMID: 37284626 Free PMC article.
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathy.
Bergner CG, Breur M, Soto-Bernardini MC, Schäfer L, Lier J, Le Duc D, Bundalian L, Schubert S, Brenner D, Kreuz FR, Schulte B, Waisfisz Q, Bugiani M, Köhler W, Sticht H, Abou Jamra R, van der Knaap MS. Bergner CG, et al. Among authors: bugiani m. Brain. 2024 Mar 15:awae085. doi: 10.1093/brain/awae085. Online ahead of print. Brain. 2024. PMID: 38489591
Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models.
Neri I, Ramazzotti G, Mongiorgi S, Rusciano I, Bugiani M, Conti L, Cousin M, Giorgio E, Padiath QS, Vaula G, Cortelli P, Manzoli L, Ratti S. Neri I, et al. Among authors: bugiani m. Mol Neurobiol. 2023 Nov;60(11):6362-6372. doi: 10.1007/s12035-023-03461-1. Epub 2023 Jul 14. Mol Neurobiol. 2023. PMID: 37450245 Free PMC article. Review.
304 results