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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...
Genotypes at the APOE and SCA2 loci do not predict the course of multiple scler...
Santos, Mónica; Costa, Maria do Carmo; Rio, Maria Edite; Sá, Maria José; Monteiro, Marta; Valença, Angela; Sá, Alfredo; Dinis, José; Figueiredo, JoséProva tipográfica (In Press) ; Multiple sclerosis (MS) is a demyelinating disease that affects about one in 500 young Europeans. In order to test the previously proposed influence of the APOE and SCA2 loci on susceptibility to MS, we studied these loci in 243 Portuguese patients and 192 healthy controls and both parents of 92 patients. We did not detect any significant difference when APOE and SCA2 allele freq...
A whole genome screen for association with multiple sclerosis in portuguese pat...
Santos, M.; Pinto-Basto, J.; Rio, M. E.; Valença, Angela; Sá, Alfredo; Dinis, J.; Figueiredo, J.; Bigotte de Almeida, Luís; Coelho, I.; Sawcer, S.Multiple sclerosis (MS) is common in Europe affecting up to 1:500 people. In an effort to identify genes influencing susceptibility to the disease, we have performed a population-based whole genome screen for association. In this study, 6000 microsatellite markers were typed in separately pooled DNA samples from MS patients (n = 188) and matched controls (n = 188). Interpretable data was obtained from 4661 of t...
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