title: First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.
authors.affiliation: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy. r.mazzei@isn.cnr.it
authors.forename: R
authors.initials: R
authors.lastname: Mazzei
authors.forename: D
authors.initials: D
authors.lastname: Guidetti
authors.forename: C
authors.initials: C
authors.lastname: Ungaro
authors.forename: F L
authors.initials: FL
authors.lastname: Conforti
authors.forename: M
authors.initials: M
authors.lastname: Muglia
authors.forename: G
authors.initials: G
authors.lastname: Cenacchi
authors.forename: P L
authors.initials: PL
authors.lastname: Lanza
authors.forename: A
authors.initials: A
authors.lastname: Patitucci
authors.forename: T
authors.initials: T
authors.lastname: Sprovieri
authors.forename: P
authors.initials: P
authors.lastname: Riguzzi
authors.forename: A
authors.initials: A
authors.lastname: Magariello
authors.forename: A L
authors.initials: AL
authors.lastname: Gabriele
authors.forename: L
authors.initials: L
authors.lastname: Citrigno
authors.forename: P
authors.initials: P
authors.lastname: Preda
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D046589:CADASIL / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics*; D013702:Temporal Lobe / Q000473:pathology
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch