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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: kruit m. Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G, Dauwerse JG, Overzier M, Brouwer G, Hegeman I, Mulder AA, Baas F, Kruit MC, Terwindt GM, van Duinen SG, Jost CR, Aartsma-Rus A, Lesnik Oberstein SAJ, Rutten JW. Gravesteijn G, et al. Among authors: kruit mc. Hum Mol Genet. 2020 Jul 21;29(11):1853-1863. doi: 10.1093/hmg/ddz285. Hum Mol Genet. 2020. PMID: 31960911 Free PMC article.
A case of co-occurrence of radiation-induced leukoencephalopathy and CADASIL.
Donker Kaat L, van der Wielen-Jongen JCF, Kruit MC, Bromberg JEC, Baas F, Lesnik Oberstein SAMJ. Donker Kaat L, et al. Among authors: kruit mc. Neurol Clin Pract. 2020 Jun;10(3):e19-e21. doi: 10.1212/CPJ.0000000000000705. Neurol Clin Pract. 2020. PMID: 32642329 Free PMC article. No abstract available.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.
Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD. Stam AH, et al. Among authors: kruit mc. Brain. 2016 Nov 1;139(11):2909-2922. doi: 10.1093/brain/aww217. Brain. 2016. PMID: 27604306 Free PMC article.
Systemic features of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a monogenic small vessel disease.
Pelzer N, Hoogeveen ES, Haan J, Bunnik R, Poot CC, van Zwet EW, Inderson A, Fogteloo AJ, Reinders MEJ, Middelkoop HAM, Kruit MC, van den Maagdenberg AMJM, Ferrari MD, Terwindt GM. Pelzer N, et al. Among authors: kruit mc. J Intern Med. 2019 Mar;285(3):317-332. doi: 10.1111/joim.12848. Epub 2018 Nov 8. J Intern Med. 2019. PMID: 30411414 Free article.
Structural brain changes in migraine.
Palm-Meinders IH, Koppen H, Terwindt GM, Launer LJ, Konishi J, Moonen JM, Bakkers JT, Hofman PA, van Lew B, Middelkoop HA, van Buchem MA, Ferrari MD, Kruit MC. Palm-Meinders IH, et al. Among authors: kruit mc. JAMA. 2012 Nov 14;308(18):1889-97. doi: 10.1001/jama.2012.14276. JAMA. 2012. PMID: 23150008 Free PMC article.
MRI evaluation of the relationship between carotid artery endothelial shear stress and brain white matter lesions in migraine.
Hoogeveen ES, Arkink EB, van der Grond J, van Buchem MA, Ferrari MD, Terwindt GM, Kruit MC; PROSPER Study Group. Hoogeveen ES, et al. Among authors: kruit mc. J Cereb Blood Flow Metab. 2020 May;40(5):1040-1047. doi: 10.1177/0271678X19857810. Epub 2019 Jun 18. J Cereb Blood Flow Metab. 2020. PMID: 31213163 Free PMC article. Clinical Trial.
Volumetric brain changes in migraineurs from the general population.
Palm-Meinders IH, Arkink EB, Koppen H, Amlal S, Terwindt GM, Launer LJ, van Buchem MA, Ferrari MD, Kruit MC. Palm-Meinders IH, et al. Among authors: kruit mc. Neurology. 2017 Nov 14;89(20):2066-2074. doi: 10.1212/WNL.0000000000004640. Epub 2017 Oct 11. Neurology. 2017. PMID: 29021356 Free PMC article.
66 results