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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: gravesteijn g. 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.
Age- and disease-specific reference values for neurofilament light presented in an online interactive support interface.
Vermunt L, Otte M, Verberk IMW, Killestein J, Lemstra AW, van der Flier WM, Pijnenburg YAL, Vijverberg EGB, Bouwman FH, Gravesteijn G, van de Berg WDJ, Scheltens P, van Harten AC, Willemse EAJ, Teunissen CE. Vermunt L, et al. Among authors: gravesteijn g. Ann Clin Transl Neurol. 2022 Nov;9(11):1832-1837. doi: 10.1002/acn3.51676. Epub 2022 Oct 5. Ann Clin Transl Neurol. 2022. PMID: 36196979 Free PMC article.
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Family Members With a Pathogenic NOTCH3 Variant Can Have a Normal Brain Magnetic Resonance Imaging and Skin Biopsy Beyond Age 50 Years.
Hack RJ, Gravesteijn G, Cerfontaine MN, Hegeman IM, Mulder AA, Lesnik Oberstein SAJ, Rutten JW. Hack RJ, et al. Among authors: gravesteijn g. Stroke. 2022 Jun;53(6):1964-1974. doi: 10.1161/STROKEAHA.121.036307. Epub 2022 Mar 18. Stroke. 2022. PMID: 35300531 Free PMC article.
Eighteen-Year Disease Progression and Survival in CADASIL.
Gravesteijn G, Hack RJ, Opstal AMV, van Eijsden BJ, Middelkoop HAM, Rodriguez Girondo MDM, Aartsma-Rus A, Grond JV, Rutten JW, Oberstein SAJL. Gravesteijn G, et al. J Stroke. 2021 Jan;23(1):132-134. doi: 10.5853/jos.2020.04112. Epub 2021 Jan 31. J Stroke. 2021. PMID: 33600711 Free PMC article. No abstract available.
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance.
Rutten JW, Hack RJ, Duering M, Gravesteijn G, Dauwerse JG, Overzier M, van den Akker EB, Slagboom E, Holstege H, Nho K, Saykin A, Dichgans M, Malik R, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: gravesteijn g. Neurology. 2020 Sep 29;95(13):e1835-e1843. doi: 10.1212/WNL.0000000000010525. Epub 2020 Jul 30. Neurology. 2020. PMID: 32732295 Free PMC article.
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