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Intervenção Precoce: Estudo comparativo entre Portugal e Espanha
Miguel,Marta; Pereira,CristinaAbstract: The reality of Early Intervention (EI) in Europe takes on different facets in different countries. More specifically, the asymmetries from region to region, both in Portugal and in Spain, in terms of Early Intervention practices, have become more evident, leading to a need to create a common frame of reference. It is in this sense that two books have been published, through the Associação Nacional de ...
Leigh Syndrome Due to mtDNA Pathogenic Variants
Pereira,Cristina; Souza,Carolina Fischinger de; Vedolin,Leonardo; Vairo,Filippo; Lorea,Cláudia; Sobreira,Cláudia; Nogueira,Célia; Vilarinho,LauraAbstract Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. It is genetically heterogeneous, causative mutations have been disclosed in mitochondrial DNA and nuclear genes involved...