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

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor. The highly stereotyped nature of the mutations, which alter the number of cysteine residues with...

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Detalhes bibliográficos
Main Authors: Monet-Leprêtre, Marie, Bardot, Boris, Lemaire, Barbara, Domenga, Valérie, Godin, Ophélia, Dichgans, Martin, Tournier-Lasserve, Elisabeth, Cohen-Tannoudji, Michel, Chabriat, Hugues, Joutel, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2685919/
https://ncbi.nlm.nih.gov/pubmed/19293235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awp049
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