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Items: 15

1.

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.

Neurology. 2019 Feb 8. pii: 10.1212/WNL.0000000000007098. doi: 10.1212/WNL.0000000000007098. [Epub ahead of print]

PMID:
30737337
2.

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

Yadak R, Breur M, Bugiani M.

Orphanet J Rare Dis. 2019 Feb 8;14(1):33. doi: 10.1186/s13023-019-1016-6. Review.

3.

MELK Inhibition in Diffuse Intrinsic Pontine Glioma.

Meel MH, de Gooijer MC, Guillén Navarro M, Waranecki P, Breur M, Buil LCM, Wedekind LE, Twisk JWR, Koster J, Hashizume R, Raabe EH, Montero Carcaboso A, Bugiani M, van Tellingen O, van Vuurden DG, Kaspers GJL, Hulleman E.

Clin Cancer Res. 2018 Nov 15;24(22):5645-5657. doi: 10.1158/1078-0432.CCR-18-0924. Epub 2018 Jul 30.

PMID:
30061363
4.

Vanishing white matter: a leukodystrophy due to astrocytic dysfunction.

Bugiani M, Vuong C, Breur M, van der Knaap MS.

Brain Pathol. 2018 May;28(3):408-421. doi: 10.1111/bpa.12606. Review.

PMID:
29740943
5.

Leukodystrophies due to astroyctic dysfunction.

Bugiani M, Breur M.

Brain Pathol. 2018 May;28(3):369-371. doi: 10.1111/bpa.12607.

PMID:
29740940
6.

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.

Ann Clin Transl Neurol. 2018 Mar 1;5(4):429-444. doi: 10.1002/acn3.540. eCollection 2018 Apr.

7.

Increased White Matter Inflammation in Aging- and Alzheimer's Disease Brain.

Raj D, Yin Z, Breur M, Doorduin J, Holtman IR, Olah M, Mantingh-Otter IJ, Van Dam D, De Deyn PP, den Dunnen W, Eggen BJL, Amor S, Boddeke E.

Front Mol Neurosci. 2017 Jun 30;10:206. doi: 10.3389/fnmol.2017.00206. eCollection 2017.

8.

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.

Ann Clin Transl Neurol. 2017 Jun 6;4(7):450-465. doi: 10.1002/acn3.405. eCollection 2017 Jul.

9.

Ageing and recurrent episodes of neuroinflammation promote progressive experimental autoimmune encephalomyelitis in Biozzi ABH mice.

Peferoen LA, Breur M, van de Berg S, Peferoen-Baert R, Boddeke EH, van der Valk P, Pryce G, van Noort JM, Baker D, Amor S.

Immunology. 2016 Oct;149(2):146-56. doi: 10.1111/imm.12644. Epub 2016 Aug 9.

10.

Small heat shock proteins are induced during multiple sclerosis lesion development in white but not grey matter.

Peferoen LA, Gerritsen WH, Breur M, Ummenthum KM, Peferoen-Baert RM, van der Valk P, van Noort JM, Amor S.

Acta Neuropathol Commun. 2015 Dec 22;3:87. doi: 10.1186/s40478-015-0267-2.

11.

GM-CSF promotes migration of human monocytes across the blood brain barrier.

Vogel DY, Kooij G, Heijnen PD, Breur M, Peferoen LA, van der Valk P, de Vries HE, Amor S, Dijkstra CD.

Eur J Immunol. 2015 Jun;45(6):1808-19. doi: 10.1002/eji.201444960. Epub 2015 May 3.

12.

Activation status of human microglia is dependent on lesion formation stage and remyelination in multiple sclerosis.

Peferoen LA, Vogel DY, Ummenthum K, Breur M, Heijnen PD, Gerritsen WH, Peferoen-Baert RM, van der Valk P, Dijkstra CD, Amor S.

J Neuropathol Exp Neurol. 2015 Jan;74(1):48-63. doi: 10.1097/NEN.0000000000000149.

PMID:
25470347
13.

Human macrophage polarization in vitro: maturation and activation methods compared.

Vogel DY, Glim JE, Stavenuiter AW, Breur M, Heijnen P, Amor S, Dijkstra CD, Beelen RH.

Immunobiology. 2014 Sep;219(9):695-703. doi: 10.1016/j.imbio.2014.05.002. Epub 2014 May 28.

PMID:
24916404
14.

Macrophages migrate in an activation-dependent manner to chemokines involved in neuroinflammation.

Vogel DY, Heijnen PD, Breur M, de Vries HE, Tool AT, Amor S, Dijkstra CD.

J Neuroinflammation. 2014 Feb 1;11:23. doi: 10.1186/1742-2094-11-23.

15.

Inflammation in neurodegenerative diseases--an update.

Amor S, Peferoen LA, Vogel DY, Breur M, van der Valk P, Baker D, van Noort JM.

Immunology. 2014 Jun;142(2):151-66. doi: 10.1111/imm.12233. Review.

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