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Cognitive processes and math performance: a study with children at third grade ...
Campos, I. S.; Almeida, L. S.; Ferreira, A. I.; Martinez, L. F.; Ramalho, G.WOS:000318367000015 (Nº de Acesso Web of Science) ; The present study aims to examine the relationship between cognitive factors and mathematical achievement in primary education. Participants were 103 Portuguese third grade students, aged 8 and 9. All participants completed a battery for working memory (WMTB-C), a test of general intelligence (Raven's Progressive Color Matrices), a selective attention test (d...
Novel mutation in the mitochondrial transfer RNACys gene in a child
Almeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L.Mitochondrial DNA (mtDNA) disorders are an important group of genetic diseases presenting with a multifacet array of clinical manifestations. Highly energy-dependent tissues such as central nervous system and skeletal and cardiac muscles are commonly involved either as multisystem or as isolated organ disease. Characteristic symptoms include epilepsy, myopathy, deafness and ophthalmoplegia, all associated with ...
Nuclear-Mitochondrial Intergenomic Communication Disorders
Almeida, L.S.; Nogueira, C.; Vilarinho, L.The focus of this chapter is to review the clinical and molecular etiologies of nuclear defects involved in mtDNA stability and in mitochondrial protein synthesis. The overview done here will hopefully provide insights towards best diagnostic strategies of mitochondrial cross–talk disorders, being useful for clinicians when facing similar cases. Additionally we will present a diagnostic algorithm for these dise...
"Double trouble” or digenic disorder in Complex I deficiency
Almeida, L.S.; Ferreira, M.; Nogueira, C.; Furtado, F.; Evangelista, T.; Santorelli, F.M.; Vilarinho, L.Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portu...
Characterization of novel SLC6A8 variants with the use of splice-site analysis ...
Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.The X-linked creatine transporter defect is caused by mutations in the SLC6A8 gene. Until now, 66 synonymous and intronic variants in SLC6A8 were detected in our laboratory. To gain more insight in the effect of the detected variants, we applied five free web-based splice-site analysis tools to 25 published variants that were stratified as (non-)disease causing. All were correctly predicted to have no effect (n...
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