Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutation

Neuroscience Letters

Volumn 506, Issue 1, 2012, Pages 116-120

  Ragno, Michele ^a   Pianese, Luigi ^a   Cacchiò, Gabriella ^a   Manca, Antonio ^b   Scarcella, Maria ^a   Silvestri, Serena ^a   Di Marzio, Fabio ^a   Caiazzo, Anna Rita ^a   Silvaggio, Flavia ^a   Tasca, Giorgio ^c   Mirabella, Massimiliano ^c,d   Trojano, Luigi ^e  

^a Mazzoni Hospital   (Italy)

^b INRCA   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

CADASIL; Multi systemic disease; Myopathy; Stroke; Vascular dementia

Indexed keywords

CREATINE KINASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE INHIBITOR; NOTCH3 RECEPTOR;

ABNORMALLY LOW SUBSTRATE CONCENTRATION IN BLOOD; ADULT; AGED; ARTICLE; CADASIL; CARDIOVASCULAR RISK; CAROTID ARTERY OBSTRUCTION; COGNITIVE DEFECT; CONTRAST ENHANCEMENT; CREATINE KINASE BLOOD LEVEL; DEMYELINATING SENSORY MOTOR POLINEUROPATHY; DISEASE SEVERITY; DOPPLER ECHOCARDIOGRAPHY; DRUG WITHDRAWAL; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; HEART ATRIUM SEPTAL ANEURYSM; HEART ATRIUM SEPTUM DEFECT; HEART INFARCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART MUSCLE CONDUCTION DISTURBANCE; HUMAN; HYPERCKEMIA; HYPERTENSION; ITALY; MAJOR CLINICAL STUDY; MALE; MEMORY DISORDER; MIGRAINE; MULTIINFARCT DEMENTIA; MUSCLE BIOPSY; MYALGIA; MYOPATHY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGICAL RECRUITMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYNEUROPATHY; PRIORITY JOURNAL; PROGNOSIS; RISK FACTOR; SEIZURE; SENSORY NEUROPATHY; SEX DIFFERENCE; SIDE EFFECT; SKELETAL MUSCLE; STROKE; TRANSESOPHAGEAL ECHOCARDIOGRAPHY; TWO DIMENSIONAL ECHOCARDIOGRAPHY;

ADULT; AGED; AGED, 80 AND OVER; ARGININE; CADASIL; CARDIOVASCULAR ABNORMALITIES; CHOLESTEROL; CREATINE KINASE; CYSTEINE; DISEASE PROGRESSION; ELECTROMYOGRAPHY; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; NEURAL CONDUCTION; NEUROPHYSIOLOGY; NEUROPSYCHOLOGICAL TESTS; PHENOTYPE; RECEPTORS, NOTCH; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84855187619     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2011.10.062     Document Type: Article

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