Diogo Ribeiro

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Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only the most common variant but also one of(More)
Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence.(More)
Cystatin B (CSTB) gene mutations cause Unverricht-Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at(More)
Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker. Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that(More)
This paper presents an innovative platform that permits the aggregation of multiple e-mail and accounts, to make the day to day handling of e-mail messages more manageable and pleasant. The new product illustrates a launching supported by low level of investment and the search for innovation based in the finding of an unexplored need in the fast moving of(More)
This paper describes and evaluates the experience of the Civil Engineering Department of ISEP to promote academic internships in the Civil Engineering Master course. Special emphasis is given to the creation and promotion of a list of companies of the sector, providing internships for the students. Some advantages of this initiative from the perspective of(More)
Objectives. Development of a simple mutation directed method in order to allow lowering the cost of mutation testing using an easily obtainable biological material. Assessment of the feasibility of such method was tested using a GC-rich amplicon. Design and Methods. A method of denaturing high-performance liquid chromatography (dHPLC) was improved and(More)
1 — The goal of this work is to depict the impact of cell partitioning in cell capacity of CDMA-based system. In this paper we examine the implementation of four partitions per cell as well as the influence of various height of the base station transceiver antenna to the system. We contemplated the urban area as the target, therefore the COST-231 Walfisch –(More)
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