Simone Semprini

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OBJECTIVE To characterize a kindred with a distinctive autosomal dominant neuromuscular disorder. BACKGROUND The authors studied a large Italian family affected by a progressive neuromyopathy. Ten individuals over three generations were affected. The disease was characterized by onset from the late teens to early 50s with distal leg weakness and atrophy,(More)
Psoriasis is a chronic inflammatory dermatitis, affecting approximately 2% of the population. Major clinical features include red, scaly patches on scalp, elbows, and knees, with or without severe arthritis. Several putative susceptibility loci have been mapped by parametric and non-parametric linkage analysis to chromosome regions 2p, 4q, 6p, 8q, 16q, 17q,(More)
Psoriasis is a chronic skin disorder affecting approximately 2% of the Caucasian population. Family clustering of the disease is well established and nonparametric linkage analyzes have mapped disease susceptibility loci on chromosomes 6p (PSORS1) and 17q (PSORS2). Nonconfirmed evidence for linkage is also available for chromosomes 2q 3q, 4q (PSORS3), 8q,(More)
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a newborn prevalence of 1 in 10,000, and a carrier frequency of 1 in 40-60 individuals. The SMA locus has been mapped to chromosome 5q11.2-13. The disease is caused by a deletion of the SMN gene, often encompassing other genes and microsatellite markers. The SMN gene is present in two(More)
Formal languages are increasingly used to describe the functional requirements (specifications) of circuits. These requirements are used as a means to communicate design intent and as basis for verification. In both settings it is of utmost importance that the specifications are of high quality. However, formal requirements are seldom the object of(More)
The IEEE standard property specification language (PSL) allows to express all omega-regular properties mixing linear temporal logic (LTL) with sequential extended regular expressions (SEREs), and is increasingly used in many phases of the hardware design cycle, from specification to verification. Many verification engines are able to manipulate(More)
The DEGAS project aims at enriching standard UML-centred development environments in such a way that the developers of global applications can exploit automated formal analyses with minimal overhead. In this paper, we present For-LySa, an instantiation of the DEGAS approach for authentication analysis, which exploits an existing analysis tool developed for(More)