Navegação Ciências da Saúde por Autor "Saba, Roberta Arb"

Resultados 1-2 de 2

    • Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease 

      Castilhos, Raphael Machado de; Augustin, Marina Coutinho; Santos, José Augusto dos; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Saba, Roberta Arb; Ferraz, Henrique Ballalai; Vargas, Fernando Regla; Furtado, Gabriel Vasata; Bonatto, Márcia Polese; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto de; Vargas, Carmen Regla; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica (2020) [Artigo de periódico]
      Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine ...

    • Minimal prevalence of Huntington's disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions 

      Castilhos, Raphael Machado de; Santos, José Augusto dos; Augustin, Marina Coutinho; Pedroso, José Luiz; Barsottini, Orlando Graziani Povoas; Saba, Roberta Arb; Ferraz, Henrique Ballalai; Godeiro Júnior, Clécio de Oliveira; Vargas, Fernando Regla; Salarini, Diego Zanotti; Furtado, Gabriel Vasata; Bonatto, Márcia Polese; Rodrigues, Luiza Paulsen; Sena, Lucas Schenatto de; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Clínica (2019) [Artigo de periódico]
      Huntington’s disease (HD) is due to dominant expansions of the CAG repeat of the HTT gene. Meiotic instability of the (CAG)n might impact the disorder frequency. We report on HD minimal prevalence in Rio Grande do Sul (RS) ...