Roberta Brusa

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The AEGIS experiment, currently being set up at the Antiproton Decelerator at CERN, has the objective of studying the free fall of antimatter in the Earth’s gravitational field by means of a pulsed cold atomic beam of antihydrogen atoms. Both duration of free fall and vertical displacement of the horizontally emitted atoms will be measured, allowing a first(More)
The assessment of iron deficiency represents a major aspect of routine laboratory chemico-clinical analysis, but the results provided by traditional hemato-clinical tests (sideremia, transferrinemia, mean cell volume and red blood cell levels) may not prove conclusive. During pregnancy iron deficiency is common and it would be extremely valuable to obtain a(More)
INTRODUCTION Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. Their molecular definition is fundamental for prognostic and therapeutic purposes. METHODS We created an Italian LGMD registry that included 370 molecularly defined patients. We reviewed detailed(More)
BACKGROUND Limb Girdle Muscular Dystrophy (LGMD), caused by defective α-dystroglycan (α-DG) glycosylation, was recently associated with mutations in Isoprenoid synthase domain-containing (ISPD) and GDP-mannose pyrophosphorylase B (GMPPB) genes. The frequency of ISPD and GMPPB gene mutations in the LGMD population is unknown. METHODS We investigated the(More)
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