Browsing by Author "Houlden, Henry H."

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    • 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 ...