Navegação por Autor "Martins, Sandra"

Resultados 1-2 de 2

    • Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10) 

      Almeida, Teresa; Alonso, Isabel da Conceição Moreira Pereira; Martins, Sandra; Ramos, Eliana Marisa; Azevedo, Luísa; Ohno, Kinji; Amorim, Antonio; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach; Matsuura, Tohru; Sequeiros, Jorge; Silveira, Isabel (2009) [Artigo de periódico]
      Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant neurodegenerative disease characterized by cerebellar ataxia and seizures. The disease is caused by a large ATTCT repeat expansion in the ATXN10 gene. The ...

    • 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 ...