Similar articles for PMID: 19293235

Year	Number of Results
1940	1
1997	1
2000	1
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2002	1
2003	2
2004	5
2005	3
2006	9
2007	11
2008	8
2009	12
2010	11
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2012	24
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2014	23
2015	20
2016	8
2017	8
2018	7
2019	11
2020	19
2021	28
2022	44
2023	13
2024	0

1

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Monet-Leprêtre M, Bardot B, Lemaire B, Domenga V, Godin O, Dichgans M, Tournier-Lasserve E, Cohen-Tannoudji M, Chabriat H, Joutel A. Monet-Leprêtre M, et al. Brain. 2009 Jun;132(Pt 6):1601-12. doi: 10.1093/brain/awp049. Epub 2009 Mar 17. Brain. 2009. PMID: 19293235 Free PMC article.

2

The archetypal R90C CADASIL-NOTCH3 mutation retains NOTCH3 function in vivo.

Monet M, Domenga V, Lemaire B, Souilhol C, Langa F, Babinet C, Gridley T, Tournier-Lasserve E, Cohen-Tannoudji M, Joutel A. Monet M, et al. Hum Mol Genet. 2007 Apr 15;16(8):982-92. doi: 10.1093/hmg/ddm042. Epub 2007 Mar 1. Hum Mol Genet. 2007. PMID: 17331978

3

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.

Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E. Joutel A, et al. Am J Hum Genet. 2004 Feb;74(2):338-47. doi: 10.1086/381506. Epub 2004 Jan 8. Am J Hum Genet. 2004. PMID: 14714274 Free PMC article.

4

New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).

Abramycheva N, Stepanova M, Kalashnikova L, Zakharova M, Maximova M, Tanashyan M, Lagoda O, Fedotova E, Klyushnikov S, Konovalov R, Sakharova A, Illarioshkin S. Abramycheva N, et al. J Neurol Sci. 2015 Feb 15;349(1-2):196-201. doi: 10.1016/j.jns.2015.01.018. Epub 2015 Jan 17. J Neurol Sci. 2015. PMID: 25623805

5

Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.

Cognat E, Baron-Menguy C, Domenga-Denier V, Cleophax S, Fouillade C, Monet-Leprêtre M, Dewerchin M, Joutel A. Cognat E, et al. Stroke. 2014 Mar;45(3):842-9. doi: 10.1161/STROKEAHA.113.003339. Epub 2014 Jan 14. Stroke. 2014. PMID: 24425116

6

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.

7

Abnormal recruitment of extracellular matrix proteins by excess Notch3 ECD: a new pathomechanism in CADASIL.

Monet-Leprêtre M, Haddad I, Baron-Menguy C, Fouillot-Panchal M, Riani M, Domenga-Denier V, Dussaule C, Cognat E, Vinh J, Joutel A. Monet-Leprêtre M, et al. Brain. 2013 Jun;136(Pt 6):1830-45. doi: 10.1093/brain/awt092. Epub 2013 May 6. Brain. 2013. PMID: 23649698 Free PMC article.

8

Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients.

Tikka S, Mykkänen K, Ruchoux MM, Bergholm R, Junna M, Pöyhönen M, Yki-Järvinen H, Joutel A, Viitanen M, Baumann M, Kalimo H. Tikka S, et al. Brain. 2009 Apr;132(Pt 4):933-9. doi: 10.1093/brain/awn364. Epub 2009 Jan 27. Brain. 2009. PMID: 19174371 Free PMC article.

9

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.

Zea-Sevilla MA, Bermejo-Velasco P, Serrano-Heranz R, Calero M. Zea-Sevilla MA, et al. J Alzheimers Dis. 2015;43(2):363-7. doi: 10.3233/JAD-141218. J Alzheimers Dis. 2015. PMID: 25096610

10

Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.

Rutten JW, Dauwerse HG, Peters DJ, Goldfarb A, Venselaar H, Haffner C, van Ommen GJ, Aartsma-Rus AM, Lesnik Oberstein SA. Rutten JW, et al. Brain. 2016 Apr;139(Pt 4):1123-35. doi: 10.1093/brain/aww011. Epub 2016 Feb 19. Brain. 2016. PMID: 26912635

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