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Page 1
Translational models for vascular cognitive impairment: a review including larger species.
Hainsworth AH, Allan SM, Boltze J, Cunningham C, Farris C, Head E, Ihara M, Isaacs JD, Kalaria RN, Lesnik Oberstein SA, Moss MB, Nitzsche B, Rosenberg GA, Rutten JW, Salkovic-Petrisic M, Troen AM. Hainsworth AH, et al. Among authors: rutten jw. BMC Med. 2017 Jan 25;15(1):16. doi: 10.1186/s12916-017-0793-9. BMC Med. 2017. PMID: 28118831 Free PMC article. 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: rutten jw. JAMA Neurol. 2025 Jan 1;82(1):49-60. doi: 10.1001/jamaneurol.2024.4487. JAMA Neurol. 2025. PMID: 39610302
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H, Lesnik Oberstein SAJ. Rutten JW, et al. Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22. Genet Med. 2019. PMID: 30032161 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: rutten jw. 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.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
Rutten JW, Klever RR, Hegeman IM, Poole DS, Dauwerse HG, Broos LA, Breukel C, Aartsma-Rus AM, Verbeek JS, van der Weerd L, van Duinen SG, van den Maagdenberg AM, Lesnik Oberstein SA. Rutten JW, et al. Acta Neuropathol Commun. 2015 Dec 29;3:89. doi: 10.1186/s40478-015-0268-1. Acta Neuropathol Commun. 2015. PMID: 26715087 Free PMC article.
Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice.
Gravesteijn G, Munting LP, Overzier M, Mulder AA, Hegeman I, Derieppe M, Koster AJ, van Duinen SG, Meijer OC, Aartsma-Rus A, van der Weerd L, Jost CR, van den Maagdenberg AMJM, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: rutten jw. Transl Stroke Res. 2020 Jun;11(3):517-527. doi: 10.1007/s12975-019-00742-7. Epub 2019 Oct 30. Transl Stroke Res. 2020. PMID: 31667734 Free PMC article.
Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patients.
Gravesteijn G, Dauwerse JG, Overzier M, Brouwer G, Hegeman I, Mulder AA, Baas F, Kruit MC, Terwindt GM, van Duinen SG, Jost CR, Aartsma-Rus A, Lesnik Oberstein SAJ, Rutten JW. Gravesteijn G, et al. Among authors: rutten jw. Hum Mol Genet. 2020 Jul 21;29(11):1853-1863. doi: 10.1093/hmg/ddz285. Hum Mol Genet. 2020. PMID: 31960911 Free PMC article.
34 results