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Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a recently identified seizure disorder. The disease maps to the long arm of chromosome 20 and may be related in some families to a missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit. We describe one of the first European family with ADNFLE, including five affected(More)
Fanconi anemia (FA) is a rare genetic disease characterized by chromosome instability, progressive pancytopenia and cancer susceptibility. Telomeres are intimately related to chromosome stability and play an important role in organismal viability at the hematological level. Since previous works suggested an accelerated shortening of telomeres in FA, we have(More)
Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients. However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients(More)
Application-level access control is an important requirement in many distributed environments. For instance, in new scenarios such as e-commerce, access to resources by previously unknown users is an essential problem to be solved. The integration of Privilege Management Infrastructure (PMI) services in the access control system represents a scalable way to(More)
Public-Key Infrastructures are considered the basis of the protocols and tools needed to guarantee the security demanded for new Internet applications like electronic commerce, government-citizen relationships and digital distribution. This paper introduces a new infrastructure design, Cert'eM, a key management and certification system that is based on the(More)
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a(More)
Authentication between protocol agents is widely studied in the cryptographic protocol analysis area. It is essential in a virtual environment to rely on protocol parties' identity. In the academic literature there are many protocols that provide the authentication property. We present in this paper a new mechanism to verify authentication using SDL,(More)