• 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) [Artigo de periódico]
      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 ...
    • The Parkinson's Disease genome-wide association study locus browser 

      Schuh, Artur Francisco Schumacher; Grenn, Francis P.; Blauwendraat, Cornelis (2020) [Artigo de periódico]
      Background: Parkinson's disease (PD) is a neurodegenerative disease with an often complex component identifiable by genome-wide association studies. The most recent large-scale PD genome-wide association studies have ...