Encontrados 10 documentos, a visualizar página 1 de 1
Doença de Huntington : onde estamos agora?
Januário, CristinaTese de doutoramento em Medicina apresentada à Faculdade de Medicina da Universidade de Coimbra
Measuring complexity in a business cycle
Gracio, Clara; Januario, Cristina; Duarte, JorgeThe purpose of this paper is to study the dynamical behavior of a family of two- dimensional nonlinear maps associated to an economic model. Our objective is to measure the complexity of the system using techniques of symbolic dynamics in order to compute the topological entropy. The analysis of the variation of this im- portant topological invariant with the parameters of the system, allows us to distin- guish...
Measuring and controlling the chaotic motion of profits
Gracio, Clara; Januario, Cristina; Mendes, Diana; Duarte, JorgeThe study of economic systems has generated deep interest in exploring the complexity of chaotic motions in economy. Due to important developments in nonlinear dynamics, the last two decades have witnessed strong revival of interest in nonlinear endogenous business chaotic models. The inability to predict the behavior of dynamical systems in presence of chaos suggests the application of chaos control methods, w...
Complete screening for glucocerebrosidase mutations in Parkinson disease patien...
Brás, José; Paisan-Ruiz, Coro; Guerreiro, Rita; Ribeiro, Maria Helena; Morgadinho, Ana; Januário, Cristina; Sidransky, Ellen; Oliveira, CatarinaMutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. ; http://www.sciencedirect.com/science/article/B6T09-4RDB8NT-4/1/f950a1008e7a0869f9c1b72f485255a4
Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRK...
Brás, José; Guerreiro, Rita; Ribeiro, Maria; Morgadinho, Ana; Januario, Cristina; Dias, Margarida; Calado, Ana; Semedo, Cristina; Oliveira, CatarinaBackground: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe. Methods: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and la...
Chaotic behavior in a two--dimensional business cycle model
Grácio, Clara; Januário, Cristina; Ramos, José SousaWe consider a discrete-time economic model which is a particular case of the Kaldor-type business cycle model and it is described by a two-dimensional dynamical system. Under certain conditions the map can be reduced to a skew map whose components, the base and the fiber map, both have entropy. Our proposal is to study and measure the complexity of the system using symbolic dynamics techniques and the topologic...
Association of HFE common mutations with Parkinson's disease, Alzheimer's disea...
Guerreiro, Rita J.; Brás, José M.; Santana, Isabel; Januário, Cristina; Santiago, Beatriz; Morgadinho, Ana S.; Ribeiro, Maria H.; Hardy, JohnBackground: Pathological brain iron deposition has been implicated as a source of neurotoxic reactive oxygen species in Alzheimer (AD) and Parkinson diseases (PD). Iron metabolism is associated with the gene hemochromatosis (HFE Human genome nomenclature committee ID:4886), and mutations in HFE are a cause of the iron mismetabolism disease, hemochromatosis. Several reports have tested the association of HFE var...
Chaotic behavior in an economic model
Gracio, Clara; Januario, Cristina; Ramos, José SousaThe purpose of this work is to study a discrete-time nonlinear business cycle model of the Kaldor-type. The model is an extended Kaldor model and it is described by a two-dimensional dynamical system with income and capital as variables. We check the orbits of the system, their changes related to changes of the system parameters and their basins of attraction in order to understand the dynamic features of the m...
G2019S dardarin substitution is a common cause of Parkinson's disease in a Port...
Brás, José Miguel; Guerreiro, Rita João; Ribeiro, Maria Helena; Januário, Cristina; Morgadinho, Ana; Oliveira, Catarina Resende; Cunha, LuísLRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice. ©...
Molecular diagnosis of Huntington disease in Portugal : implications for geneti...
Costa, Maria do Carmo; Magalhães, Paula; Ferreirinha, Fátima; Guimarães, Laura; Januário, Cristina; Gaspar, Isabel; Loureiro, Leal; Vale, JoséHuntington disease (HD) is a eurodegenerative, autosomal dominant disorder of late-onset, caused by the expansion of a CAG repeat in the coding region of the gene. Ours is the reference laboratory for genetic testing in HD, in Portugal, since 1998; 90.1% of all 158 families known were identified for the first time, including patients with unusual presentation or without family history. A total of 338 genetic te...
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