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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: vreijling j. 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.
Whole-exome Sequencing Identifies SLC52A1 and ZNF106 Variants as Novel Genetic Risk Factors for (Early) Multiple-organ Failure in Acute Pancreatitis.
van den Berg FF, Issa Y, Vreijling JP, Lerch MM, Weiss FU, Besselink MG, Baas F, Boermeester MA, van Santvoort HC; Dutch Pancreatitis Study Group. van den Berg FF, et al. Among authors: vreijling jp. Ann Surg. 2022 Jun 1;275(6):e781-e788. doi: 10.1097/SLA.0000000000004312. Epub 2021 Jan 8. Ann Surg. 2022. PMID: 33427755
The systemic inhibition of the terminal complement system reduces neuroinflammation but does not improve motor function in mouse models of CMT1A with overexpressed PMP22.
Michailidou I, Vreijling J, Rumpf M, Loos M, Koopmans B, Vlek N, Straat N, Agaser C, Kuipers TB, Mei H, Baas F, Fluiter K. Michailidou I, et al. Among authors: vreijling j. Curr Res Neurobiol. 2023 Feb 4;4:100077. doi: 10.1016/j.crneur.2023.100077. eCollection 2023. Curr Res Neurobiol. 2023. PMID: 36926597 Free PMC article.
19 results