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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. Among authors: domenga v. 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
Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia.
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Maréchal E, Maciazek J, Vayssière C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: domenga v. Ann N Y Acad Sci. 1997 Sep 26;826:213-7. doi: 10.1111/j.1749-6632.1997.tb48472.x. Ann N Y Acad Sci. 1997. PMID: 9329692 Review.
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia.
Joutel A, Corpechot C, Ducros A, Vahedi K, Chabriat H, Mouton P, Alamowitch S, Domenga V, Cécillion M, Marechal E, Maciazek J, Vayssiere C, Cruaud C, Cabanis EA, Ruchoux MM, Weissenbach J, Bach JF, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: domenga v. Nature. 1996 Oct 24;383(6602):707-10. doi: 10.1038/383707a0. Nature. 1996. PMID: 8878478
17 results