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[CADASIL: genetics and physiopathology].
Joutel A, François A, Chabriat H, Vahedi K, Andreux F, Domenga V, Cecillon M, Maciazek J, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: domenga v. Bull Acad Natl Med. 2000;184(7):1535-42; discussion 1542-4. Bull Acad Natl Med. 2000. PMID: 11261257 Review. French.
Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis.
Joutel A, Favrole P, Labauge P, Chabriat H, Lescoat C, Andreux F, Domenga V, Cécillon M, Vahedi K, Ducros A, Cave-Riant F, Bousser MG, Tournier-Lasserve E. Joutel A, et al. Among authors: domenga v. Lancet. 2001 Dec 15;358(9298):2049-51. doi: 10.1016/S0140-6736(01)07142-2. Lancet. 2001. PMID: 11755616
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
17 results