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Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
van der Knaap MS, Bugiani M, Mendes MI, Riley LG, Smith DEC, Rudinger-Thirion J, Frugier M, Breur M, Crawford J, van Gaalen J, Schouten M, Willems M, Waisfisz Q, Mau-Them FT, Rodenburg RJ, Taft RJ, Keren B, Christodoulou J, Depienne C, Simons C, Salomons GS, Mochel F. van der Knaap MS, et al. Among authors: breur m. Neurology. 2019 Mar 12;92(11):e1225-e1237. doi: 10.1212/WNL.0000000000007098. Epub 2019 Feb 8. Neurology. 2019. PMID: 30737337 Free PMC article.
Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.
Bugiani M, Dubey M, Breur M, Postma NL, Dekker MP, Ter Braak T, Boschert U, Abbink TEM, Mansvelder HD, Min R, van Weering JRT, van der Knaap MS. Bugiani M, et al. Among authors: breur m. Ann Clin Transl Neurol. 2017 Jun 6;4(7):450-465. doi: 10.1002/acn3.405. eCollection 2017 Jul. Ann Clin Transl Neurol. 2017. PMID: 28695146 Free PMC article.
Axonal abnormalities in vanishing white matter.
Klok MD, Bugiani M, de Vries SI, Gerritsen W, Breur M, van der Sluis S, Heine VM, Kole MHP, Baron W, van der Knaap MS. Klok MD, et al. Among authors: breur m. Ann Clin Transl Neurol. 2018 Mar 1;5(4):429-444. doi: 10.1002/acn3.540. eCollection 2018 Apr. Ann Clin Transl Neurol. 2018. PMID: 29687020 Free PMC article.
Leukodystrophies due to astroyctic dysfunction.
Bugiani M, Breur M. Bugiani M, et al. Among authors: breur m. Brain Pathol. 2018 May;28(3):369-371. doi: 10.1111/bpa.12607. Brain Pathol. 2018. PMID: 29740940 Free PMC article.
Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
Wolf NI, Breur M, Plug B, Beerepoot S, Westerveld ASR, van Rappard DF, de Vries SI, Kole MHP, Vanderver A, van der Knaap MS, Lindemans CA, van Hasselt PM, Boelens JJ, Matzner U, Gieselmann V, Bugiani M. Wolf NI, et al. Among authors: breur m. Ann Clin Transl Neurol. 2020 Feb;7(2):169-180. doi: 10.1002/acn3.50975. Epub 2020 Jan 22. Ann Clin Transl Neurol. 2020. PMID: 31967741 Free PMC article.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP. Staps P, et al. Among authors: breur m. J Inherit Metab Dis. 2020 Nov;43(6):1265-1278. doi: 10.1002/jimd.12275. Epub 2020 Jul 9. J Inherit Metab Dis. 2020. PMID: 32557630 Free PMC article.
39 results