3 documents found, page 1 of 1
Feasibility and Effectiveness of a 12-Week Concurrent Exercise Training on Phys...
Barros, D; Silva-Fernandes, A; Martins, S; Guerreiro, S; Magalhães, J; Carvalho, J; Marques, EA"Objective To examine the feasibility and effects of a 12-week exercise intervention on physical performance, muscular strength, and circulating myokines in frail individuals living in nursing homes. Design A cluster randomized, 2-period, 2-intervention crossover trial. Setting and Participants Frail residents of 9 nursing homes were randomly assigned to either 12 weeks of concurrent exercise training (n = 5, 2...
Variant Rett Syndrome in a Girl with a Pericentric X-Chromosome Inversion Leadi...
Vieira, JP; Lopes, F; Silva-Fernandes, A; Sousa, MV; Moura, S; Sousa, S; Costa, BM; Barbosa, M; Ylstra, B; Temudo, T; Lourenço, T; Maciel, PRett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated the genetic basis of disease in a female patient with a Rett-like clinical. Karyotype analysis revealed a pericentric inversion in the X chromosome -46,X,inv(X)(p22.1q28), with breakpoints in the cytobands where the MECP2 and CDKL5 genes are located. FISH analysis revealed that the MECP2 gene is not dislocated ...
Motor uncoordination and neuropathology in a transgenic mouse model of Machado-...
Silva-Fernandes, A; Costa, MC; Duarte-Silva, S; Oliveira, P; Botelho, C; Martins, L; Mariz, J; Ferreira, T; Ribeiro, F; Correia-Neves, M; Costa, CMachado-Joseph disease (MJD) is a late-onset neurodegenerative disorder caused by a polyglutamine (polyQ) expansion in the ataxin-3 protein. We generated two transgenic mouse lineages expressing the expanded human ataxin-3 under the control of the CMV promoter: CMVMJD83 and CMVMJD94, carrying Q83 and Q94 stretches, respectively. Behavioral analysis revealed that the CMVMJD94 transgenic mice developed motor unco...