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Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendation...
Gomes, Tiago; Guimaraes, Joana; Leão, Miguel; Grupo de Neurogenética do Centro Hospitalar São João, Em nome doIn recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics of...
Data: 2017
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Origem: Acta Médica Portuguesa