Now showing items 1-3 of 3

    • 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 ...
    • Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing 

      Raposo, Mafalda; Bettencourt, Conceição; Melo, Ana Rosa Vieira; Ferreira, Ana F.; Alonso, Isabel da Conceição Moreira Pereira; Silva, Paulo; Vasconcelos, João; Kay, Teresa; Pereira, Maria Luiza Saraiva; Costa, Marta Daniela; Vilasboas Campos, Daniela; Bettencourt, Bruno Filipe; Bruges-Armas, Jácome; Houlden, Henry H.; Heutink, Peter; Jardim, Laura Bannach; Sequeiros, Jorge; Maciel, Patrícia; Lima, Manuela (2022) [Journal article]
      Machado-Joseph disease (MJD/SCA3) is a neurodegenerative polyglutamine disorder exhibiting a wide spectrum of phenotypes. The abnormal size of the (CAG)n at ATXN3 explains ~55% of the age at onset variance, suggesting the ...
    • Population-specific genetic modification of Huntington's disease in Venezuela 

      Chao, Michael J.; Kim, Kyung Hee; Shin, Ju Wan; Lucente, Diane E.; Wheeler, Vanessa C.; Li, Hong; Roach, Jared C.; Hood, Leroy; Wexler, Nancy S.; Jardim, Laura Bannach; Holmans, Peter; Jones, Lesley A.; Orth, Michael; Kwak, Seung P.; MacDonald, Marcy E.; Gusella, James F.; Lee, Jong Min (2018) [Journal article]
      Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset ...