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The genetic architecture of Parkinson's disease : emphasis on genetic susceptib...
Brás, José Miguel TomásParkinson’s disease (PD) is the second most frequent neurodegenerative disease, following Alzheimer’s disease, and has been commonly designated a sporadic disorder with few environmental triggers. To date, the single most important risk factor for the disease is ageing. Since the proportion of the elderly is growing steadily as the longevity of the population increases, this leads to greater numbers of patients...
Genetic screening of Alzheimer's disease genes in Iberian and African samples y...
Guerreiro, Rita João; Baquero, Miquel; Blesa, Rafael; Boada, Mercè; Brás, José Miguel; Bullido, Maria. J.; Calado, Ana; Crook, Richard; Ferreira, CarlaMutations in three genes (PSEN1, PSEN2, and APP) have been identified in patients with early-onset (<65years) Alzheimer’s disease (AD). We performed a screening for mutations in the coding regions of presenilins, as well as exons 16 and 17 of the APP gene in a total of 231 patients from the Iberian peninsular with a clinical diagnosis of early onset AD (mean age at onset of 52.9 years; range 31– 64). We found t...
As rotas de vinho como elementos de desenvolvimento económico
Brás, José Miguel da SilvaO sector do turismo em Portugal é responsável pela geração de importantes receitas e pela criação de um número considerável de postos de trabalho. No entanto, existem regiões do país onde a dependência no sector é mais evidente. O sector do turismo assume-se, deste modo, como um factor de alavanca do desenvolvimento socioeconómico e de dinamização e fortalecimento da base económica local, sobretudo devido ao ef...
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. ©...
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