Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.

Ragno, M; Cacchiò, G; Fabrizi, G M; Scarcella, M; Silvaggio, F; Cavallaro, T; Taioli, F; Trojano, L

Ragno, M; Cacchiò, G; Fabrizi, G M; Scarcella, M; Silvaggio, F; Cavallaro, T; Taioli, F; Trojano, L.

Affiliation

Ragno M; Division of Neurology, C. and G. Mazzoni Hospital, Ascoli Piceno, and Department of Neurological and Visual Science, University of Verona, Italy.

Neurol Sci ; 28(4): 181-4, 2007 Aug.

Article in En | MEDLINE | ID: mdl-17690848

Subject(s)

CADASIL/genetics; Cystine/genetics; Exons/genetics; Glycine/genetics; Mutation; Receptors, Notch/genetics; Aged; CADASIL/pathology; Family Health; Female; Humans; Italy; Magnetic Resonance Imaging; Male; Middle Aged; Receptor, Notch3

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Collection: 01-internacional Database: MEDLINE Main subject: Exons / Cystine / CADASIL / Receptors, Notch / Glycine / Mutation Limits: Aged / Female / Humans / Male / Middle aged Country/Region as subject: Europa Language: En Journal: Neurol Sci Journal subject: NEUROLOGIA Year: 2007 Type: Article Affiliation country: Italy

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