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9 results on '"Oliveri, Rosario L."'

1. A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings

Author

Oliveri, Rosario L., Muglia, Maria, De Stefano, Nicole, Mazzei, Rosalucia, Labate, Angelo, Conforti, Francesca L., Patitucci, Allessandra, Gabriele, Anna L., Tagarelli, Giuseppe, Magariello, Angela, Zappia, Mario, Gambardella, Antonio, Federico, Antonio, and Quattrone, Aldo

Published
2001

4. Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sj�gren syndrome

Author

Aguglia, Umberto, primary, Annesi, Grazia, additional, Pasquinelli, Gianandrea, additional, Spadafora, Patrizia, additional, Gambardella, Antonio, additional, Annesi, Ferdinanda, additional, Pasqua, Angela Aurora, additional, Cavalcanti, Francesca, additional, Crescibene, Lucia, additional, Bagal�, Angelo, additional, Bono, Francesco, additional, Oliveri, Rosario L., additional, Valentino, Paola, additional, Zappia, Mario, additional, and Quattrone, Aldo, additional

Published
2000
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5. The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

Author

Oliveri, Rosario L., primary, Annesi, Grazia, additional, Zappia, Mario, additional, Civitelli, Donatella, additional, De Marco, Elvira V., additional, Pasqua, Angela A., additional, Annesi, Ferdinanda, additional, Spadafora, Patrizia, additional, Gambardella, Antonio, additional, Nicoletti, Giuseppe, additional, Branca, Damiano, additional, Caracciolo, Manuela, additional, Aguglia, Umberto, additional, and Quattrone, Aldo, additional

Published
2000
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6. Apolipoprotein E polymorphisms and Parkinson's disease

Author

Oliveri, Rosario L, primary, Nicoletti, Giuseppe, additional, Cittadella, Rita, additional, Manna, Ida, additional, Branca, Damiano, additional, Zappia, Mario, additional, Gambardella, Antonio, additional, Caracciolo, Manuela, additional, and Quattrone, Aldo, additional

Published
1999
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9. Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings.

Author

Oliveri, Rosario L., Muglia, Maria, De Stefano, Nicole, Mazzei, Rosalucia, Labate, Angelo, Conforti, Francesca L., Patitucci, Allessandra, Gabriele, Anna L., Tagarelli, Giuseppe, Magariello, Angela, Zappia, Mario, Gambardella, Antonio, Federico, Antonio, and Quattrone, Aldo

Subjects
GENETIC disorders, NOTCH genes, CEREBRAL infarction
Abstract

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary syndrome caused by mutations of the Notch3 gene, usually localized to exons 3 and 4. Objectives: To report a novel pathogenetic mutation occurring in exon 6 of the Notch3 gene, a location not previously recognized in patients with CADASIL, and to report the results of magnetic resonance spectroscopy in CADASIL. Methods: Mutation analysis of the Notch3 gene was performed in 2 patients belonging to a large kindred manifesting CADASIL, as well as in 7 clinically unaffected members of the family and 200 control chromosomes. Proton magnetic resonance spectroscopy was used to estimate metabolite resonance intensities in the 2 affected subjects. Results: Sequence analysis of the Notch3 gene showed a new missense mutation CGC→TGC in codon 332 of exon 6, resulting in the replacement of an arginine residue with a cysteine. This mutation was never observed in the 7 unaffected members of the family and the 200 control chromosomes examined. Proton magnetic resonance spectroscopy showed a diffuse decrease in cerebral N-acetylaspartate, indicating the presence of widespread axonal damage. Conclusions: Our findings emphasize the role of direct DNA sequence analysis for the diagnosis of CADASIL. Moreover, the results of proton magnetic resonance spectroscopy suggest that widespread axonal damage may be an early finding of the disease. [ABSTRACT FROM AUTHOR]

Published
2001
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