Browsing Journal Articles by Subject "Loci gênicos"

Now showing items 1-1 of 1

    • Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease 

      Akçimen, Fulya; Martins, Sandra; Liao, Calwing; Bourassa, Cynthia V.; Catoire, Hélène; Nicholson, Garth A.; Riess, Olaf; Raposo, Mafalda; França Júnior, Marcondes Cavalcante; Vasconcelos, João; Lima, Manuela; Lopes-Cendes, Iscia Teresinha; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Sequeiros, Jorge; Dion, Patrick A.; Rouleau, Guy A. (2020) [Journal article]
      Machado-Joseph disease (MJD/SCA3) is the most common form of dominantly inherited ataxia worldwide. The disorder is caused by an expanded CAG repeat in the ATXN3 gene. Past studies have revealed that the length of the ...