publicações selecionadas
-
artigo académico
- Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of Disease. 2022
-
artigo de revista
- Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. Movement Disorders. 2015
- Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of Machado-Joseph disease. Neurodegenerative Diseases. 2013
- Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3). Neurogenetics. 2010
- The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): A comparison between DNA and mRNA in patients and controls. European Journal of Human Genetics. 2010
- Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: A study in normal families from the Azores islands (Portugal). Journal of Human Genetics. 2008