Browsing Health Sciences by Subject "Machado–Joseph disease"

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    • Normal ATXN3 allele but not CHIP polymorphisms modulates age at onset in Machado–Joseph disease 

      França Júnior, Marcondes Cavalcante; Emmel, Vanessa Erichsen; D'Abreu, Anelyssa Cysne Frota; Morelli, Cláudia Vianna Maurer; Secolin, Rodrigo; Bonadia, Luciana Cardoso; Silva, Marilza Santos; Nucci, Anamarli; Jardim, Laura Bannach; Pereira, Maria Luiza Saraiva; Marques Júnior, Wilson; Paulson, Henry L.; Lopes-Cendes, Iscia Teresinha (2012) [Journal article]
      Background: Age at onset (AO) in Machado–Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates ...

    • Peripheral oxidative stress biomarkers in spinocerebellar ataxia type 3/Machado–Joseph disease 

      Assis, Adriano Martimbianco de; Saute, Jonas Alex Morales; Santos, Aline Longoni dos; Haas, Clarissa Branco; Torrez, Vitor Rocco; Brochier, Andressa Wigner; Souza, Gabriele Nunes; Furtado, Gabriel Vasata; Gheno, Tailise Conte; Russo, Aline; Monte, Thais Lampert; Castilhos, Raphael Machado de; Schuh, Artur Francisco Schumacher; Davila, Rui; Donis, Karina Carvalho; Rieder, Carlos Roberto de Mello; Souza, Diogo Onofre Gomes de; Camey, Suzi Alves; Leotti, Vanessa Bielefeldt; Jardim, Laura Bannach; Portela, Luis Valmor Cruz (2017) [Journal article]
      Objectives: Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic ...