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Unverricht-Lundborg Disease: Tackling the Challenges of a Complex Clinical Picture
Ferreira dos Santos, Mafalda; Laço, Mário; Robalo, Conceição; Palavra, FilipeUnverricht-Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is characterized by stimulus-induced myoclonus and seizures without major progressive cognitive deficit, usually presenting during late childhood and early adolescence. It is an autosomal recessive disease, and, so far, only pathogenic variants in the gene encoding cystatin B (CSTB) have been described. We report the case of a...
Data: 2024
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Origem: SINAPSE
Dysregulation of CREB Activation and Histone Acetylation in 3-Nitropropionic Ac...
Almeida, Sandra; Cunha-Oliveira, Teresa; Laço, Mário; Oliveira, Catarina R.; Rego, A. Cristina
Data: 2009
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Origem: Estudo Geral - Universidade de Coimbra