Maria Grazia Bellotti

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BACKGROUND POLG1 mutations have been associated with MELAS-like phenotypes. However given several clinical differences it is unknown whether POLG1 mutations are possible causes of MELAS or give raise to a distinct clinical and genetic entity, named POLG1-associated encephalopathy. CASE PRESENTATION We describe a 74 years old man carrying POLG1 mutations(More)
BACKGROUND Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For(More)
BACKGROUND The latest developments in Lewy Body Dementia (DLB) raise some controversies on clinical features, neuroimaging and therapy. The aim of our study is to determine clinical, neuropsychological, neuroimaging and EEG profile of DLB through retrospective and prospective data of 102 patients. METHODS data were collected with an analytical form that(More)
The aim of the study was to verify in the context of prenatal diagnosis if the communicative style in consultations is modified in relation to the seriousness of the diagnosis. Videoed consultations after executing amniocentesis and ultra-sound scanning of II level were included in the study with the consent of participants. Only visits with Italian(More)
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