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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: cerfontaine mn. Stroke. 2022 Jun;53(6):1964-1974. doi: 10.1161/STROKEAHA.121.036307. Epub 2022 Mar 18. Stroke. 2022. PMID: 35300531 Free PMC article.
NOTCH3 variant position is associated with NOTCH3 aggregation load in CADASIL vasculature.
Gravesteijn G, Hack RJ, Mulder AA, Cerfontaine MN, van Doorn R, Hegeman IM, Jost CR, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: cerfontaine mn. Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12751. doi: 10.1111/nan.12751. Epub 2021 Jul 30. Neuropathol Appl Neurobiol. 2022. PMID: 34297860 Free PMC article.
Disease Severity Staging System for NOTCH3-Associated Small Vessel Disease, Including CADASIL.
Gravesteijn G, Rutten JW, Cerfontaine MN, Hack RJ, Liao YC, Jolly AA, Guey S, Hsu SL, Park JY, Yuan Y, Kopczak A, Rifino N, Neilson SJ, Poggesi A, Shourav MMI, Saito S, Ishiyama H, Domínguez Mayoral A, Nogueira R, Muiño E, Andersen P, De Stefano N, Santo G, Sukhonpanich N, Mele F, Park A, Lee JS, Rodríguez-Girondo M, Vonk SJJ, Brodtmann A, Börjesson-Hanson A, Pantoni L, Fernández-Cadenas I, Silva AR, Montanaro VVA, Kalaria RN, Lopergolo D, Ihara M, Meschia JF, Muir KW, Bersano A, Pescini F, Duering M, Choi JC, Ling C, Kim H, Markus HS, Chabriat H, Lee YC, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: cerfontaine mn. JAMA Neurol. 2024 Nov 29. doi: 10.1001/jamaneurol.2024.4487. Online ahead of print. JAMA Neurol. 2024. PMID: 39610302
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: cerfontaine mn. Genet Med. 2024 Jun;26(6):101105. doi: 10.1016/j.gim.2024.101105. Epub 2024 Feb 27. Genet Med. 2024. PMID: 38430071 Free article.