0000000000485725

AUTHOR

S Pozzi

showing 3 related works from this author

Searching for New Physics in two-neutrino double beta decay with CUPID

2021

Abstract In the past few years, attention has been drawn to the fact that a precision analysis of two-neutrino double beta decay (2υββ) allows the study of interesting physics cases like the emission of Majoron bosons and possible Lorentz symmetry violation. These processes modify the summed-energy distribution of the two electrons emitted in 2υββ. CUPID is a next-generation experiment aiming to exploit 100Mo-enriched scintillating Li2MoO4 crystals, operating as cryogenic calorimeters. Given the relatively fast half-life of 100Mo 2υββ and the large exposure that can be reached by CUPID, we expect to measure with very high precision the 100Mo 2υββ spectrum shape, reaching great sensitivities…

CUPID Neutrinoless Double Beta Decay LNGS Particle Physics Neutrino Majorana NeutrinoHistoryLNGS[PHYS.NEXP]Physics [physics]/Nuclear Experiment [nucl-ex]hiukkasfysiikkaNeutrinoless Double Beta DecayEducationcrystalCUPIDNeutrino[PHYS.HEXP]Physics [physics]/High Energy Physics - Experiment [hep-ex]double-beta decay: (2neutrino)Particle Physicsscintillation countersymmetry: violationbackgroundnew physics: search forMajorana Neutrinoneutriinotsensitivityviolation: LorentzMajoronComputer Science Applicationscalorimeter: cryogenicselectron: energy spectrumsymmetry: Lorentzydinfysiikka
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Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Hereditary sensory neuropathy; L-serine; Mutations; Deoxysphingolipids; AccumulationEnzyme complexJuvenile amyotrophic lateral sclerosisSerine C-Palmitoyltransferase/dk/atira/pure/subjectarea/asjc/2700/2728Whole Exome Sequencing0302 clinical medicineMedicineFamily historyAmyotrophic lateral sclerosisChildIndex caseExome sequencingOriginal Investigation0303 health sciencesNeurosciences and neurology3. Good healthChild PreschoolFailure to thriveFemalemedicine.symptomLife Sciences & BiomedicineL-SERINECommentsHumanAdultmedicine.medical_specialtyAdolescent; Adult; Amyotrophic Lateral Sclerosis; Child; Child Preschool; Female; Genetic Predisposition to Disease; Humans; Mutation; Serine C-Palmitoyltransferase; Whole Exome Sequencing; Young AdultAdolescentClinical NeurologyNO03 medical and health sciencesYoung AdultDEOXYSPHINGOLIPIDSInternal medicineExome SequencingOnline FirstHumansJuvenileGenetic Predisposition to DiseasePreschool030304 developmental biologyACCUMULATIONScience & TechnologySPTLC1business.industryMUTATIONSResearchAmyotrophic Lateral Sclerosis3112 Neurosciencesmedicine.diseaseHEREDITARY SENSORY NEUROPATHYjuvenileMutation3111 BiomedicineNeurology (clinical)Neurosciences & NeurologyALSgeneticbusiness030217 neurology & neurosurgeryAmyotrophic Lateral Sclerosi
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Coupling and Complexity of Interaction of STCA Networks

2009

This paper provides an overview on the results of an ENAV feasibility study, where we exploited an automatic safety data gathering tool to analyze the ATM system performances. In particular, it addresses the use of the EUROCONTROL tool, ASMT (Automatic Safety Monitoring Tool), as a support to monitor STCA performance. The contribution of this study is to explore how analysis methods derived from complex systems theory (i.e. network analysis) can assist in the understanding, monitoring and management of the performance of ATM systems. Our data show that a large number of STCAs do not occur in isolation, but rather that in roughly half of the cases the aircraft involved in an STCA are subsequ…

Air Traffic Management Networks Complex systems
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