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Page 1
CADASIL.
Hack RJ, Rutten J, Lesnik Oberstein SAJ. Hack RJ, et al. 2000 Mar 15 [updated 2019 Mar 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2000 Mar 15 [updated 2019 Mar 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301673 Free Books & Documents. Review.
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
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.
Effect of blood pressure-lowering agents on microvascular function in people with small vessel diseases (TREAT-SVDs): a multicentre, open-label, randomised, crossover trial.
Kopczak A, Stringer MS, van den Brink H, Kerkhofs D, Blair GW, van Dinther M, Reyes CA, Garcia DJ, Onkenhout L, Wartolowska KA, Thrippleton MJ, Kampaite A, Duering M, Staals J, Lesnik-Oberstein S, Muir KW, Middeke M, Norrving B, Bousser MG, Mansmann U, Rothwell PM, Doubal FN, van Oostenbrugge R, Biessels GJ, Webb AJS, Wardlaw JM, Dichgans M; TREAT-SVDs collaborators. Kopczak A, et al. Lancet Neurol. 2023 Nov;22(11):991-1004. doi: 10.1016/S1474-4422(23)00293-4. Lancet Neurol. 2023. PMID: 37863608 Clinical Trial.
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
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.
51 results