Navegação Ciências Biológicas por Assunto "Machado-Joseph disease"

Resultados 1-5 de 5

    • 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 ...

    • Machado-Joseph disease enhances genetic fitness : a comparison between affected and unaffected women and between MJD and the general population 

      Prestes, Priscilla Ribeiro; Pereira, Maria Luiza Saraiva; Silveira, I.; Sequeiros, Jorge; Jardim, Laura Bannach (2008) [Artigo de periódico]
      Background: Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little ...

    • A model for the dynamics of expanded CAG repeat alleles : ATXN2 and ATXN3 as prototypes 

      Sena, Lucas Schenatto de; Lemes, Renan Barbosa; Furtado, Gabriel Vasata; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach (2023) [Artigo de periódico]
      Background: Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age of onset of symptoms (AO) correlates with the CAGexp length. Repeat instability ...

    • Occupational therapy in spinocerebellar ataxia type 3 : an open-label trial 

      Silva, Renata Cristina Rocha da; Saute, Jonas Alex Morales; Silva, Andrew Chaves Feitosa da; Coutinho, Ana Carolina de Oliveira; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach (2010) [Artigo de periódico]
      Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical ...

    • State biomarkers for Machado Joseph disease : validation, feasibility and responsiveness to change 

      Furtado, Gabriel Vasata; Oliveira, Camila Maria de; Bolzan, Gabriela; Saute, Jonas Alex Morales; Pereira, Maria Luiza Saraiva; Jardim, Laura Bannach (2019) [Artigo de periódico]
      Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no ...