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Small Vessel Disease Phenotype Associated With Monoallelic NOTCH3 Loss-of-Function Variants.
van Asbeck JS, Gravesteijn G, Cerfontaine MN, Vreijling JP, Mulder AA, Koning RI, Kruit MC, Bersano A, Muir KW, Neilson SJ, Meschia JF, Shourav MMI, Koupparis A, Lee YC, Rifino N, Hack RJ, Nibbeling EAR, Lesnik Oberstein SAJ, Rutten JW. van Asbeck JS, et al. Among authors: hack rj. Neurology. 2025 Sep 23;105(6):e214021. doi: 10.1212/WNL.0000000000214021. Epub 2025 Aug 29. Neurology. 2025. PMID: 40882175 Free PMC article.
Association Between Vascular NOTCH3 Aggregation and Disease Severity in a CADASIL Cohort - Implications for NOTCH3 Variant-Specific Disease Prediction.
Cerfontaine MN, Gravesteijn G, Hack RJ, Dijkstra KL, Rodríguez-Girondo M, Gesierich B, Witjes-Ané MW, van Doorn R, Duering M, Rutten JW, Lesnik Oberstein SAJ. Cerfontaine MN, et al. Among authors: hack rj. Ann Neurol. 2025 Aug;98(2):273-285. doi: 10.1002/ana.27240. Epub 2025 Apr 23. Ann Neurol. 2025. PMID: 40265482 Free PMC article.
Topographic Localization of Chronic Cerebellar Ischemic Lesions: Implications for Underlying Cause.
Kneihsl M, Hakim A, Goeldlin MB, Branca M, Fenzl S, Abend S, Gattringer T, Enzinger C, Dawson J, Gesierich B, Kopczak A, Hack RJ, Cerfontaine MN, Rutten JW, Lesnik Oberstein SAJ, Pasi M, Fischer U, Duering M, Meinel TR. Kneihsl M, et al. Among authors: hack rj. Stroke. 2025 Jul;56(7):1823-1831. doi: 10.1161/STROKEAHA.124.049337. Epub 2025 Apr 3. Stroke. 2025. PMID: 40177749
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: hack rj. JAMA Neurol. 2025 Jan 1;82(1):49-60. doi: 10.1001/jamaneurol.2024.4487. JAMA Neurol. 2025. PMID: 39610302
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