An Italian case of CADASIL with mutation CGC-TCG in codon 1006, exon 19 Notch3 gene

Neurological Sciences

Volumn 24, Issue 6, 2004, Pages 401-406

  Guidetti, D ^a   Casali, B ^a   Mazzei, R L ^b   Cenacchi, G ^c   Di Berti, G ^d   Zuccoli, G ^d   Nicoli, D ^a   Conforti, F L ^b   Sprovieri, T ^b   Pasquinelli, G ^c   Brini, M ^d  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b IMSEB CNR   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d Santa Maria Nuova Hospital   (Italy)

Author keywords

CADASIL; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Leukoencephalopathy; Notch3 gene

Indexed keywords

CYSTEINE; GLYCINE; NOTCH3 RECEPTOR; OSMIUM; THREONINE;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; BASEMENT MEMBRANE; BRAIN INFARCTION; BRAIN ISCHEMIA; CADASIL; CASE REPORT; CLINICAL FEATURE; CODON; COGNITIVE DEFECT; DEMENTIA; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HISTOPATHOLOGY; HOSPITAL ADMISSION; HUMAN; ITALY; MEDICAL LITERATURE; MIGRAINE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PSEUDOBULBAR PALSY; PYRAMIDAL SIGN; RECURRENT DISEASE; SEQUENCE ANALYSIS; SKIN CAPILLARY; STROKE; TRANSIENT ISCHEMIC ATTACK; ULTRASTRUCTURE;

BRAIN; CODON; DEMENTIA, MULTI-INFARCT; EXONS; FAMILY HEALTH; FEMALE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; MUTATION, MISSENSE; PROTO-ONCOGENE PROTEINS; RECEPTORS, CELL SURFACE; RECEPTORS, NOTCH; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 10744233032     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10072-003-0196-x     Document Type: Article

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