A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient

Journal of the Neurological Sciences

Volumn 267, Issue 1-2, 2008, Pages 170-173

  Pescini, Francesca ^a   Bianchi, Silvia ^b   Salvadori, Emilia ^a   Poggesi, Anna ^a   Dotti, Maria Teresa ^b   Federico, Antonio ^b   Inzitari, Domenico ^a   Pantoni, Leonardo ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

Author keywords

Aging; CADASIL; Genotype; Leukoencephalopathy; Magnetic resonance imaging; NOTCH3; Phenotype; Stroke

Indexed keywords

CYSTEINE; EPIDERMAL GROWTH FACTOR; NOTCH3 RECEPTOR;

AGED; ANAMNESIS; ARTICLE; CADASIL; CONTROLLED STUDY; EXON; FOLLOW UP; GENE MUTATION; HUMAN; LABORATORY TEST; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; STROKE; SUBSTITUTION REACTION; WHITE MATTER;

AGE FACTORS; AGED, 80 AND OVER; AMINO ACID SUBSTITUTION; BRAIN; CADASIL; CEREBRAL ARTERIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EARLY DIAGNOSIS; EXONS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, NOTCH;

EID: 39049083790     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.10.017     Document Type: Article

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