publicações selecionadas
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artigo académico
- Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.. Journal of Human Genetics. 2002
- Improvement in the molecular diagnosis of Machado-Joseph disease. Archives of Neurology. 2001
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artigo de revista
- Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3). Neurogenetics. 2010
- Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 2005
- Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin. Multiple Sclerosis. 2004
- Molecular diagnosis of Huntington disease in Portugal: Implications for genetic counselling and clinical practice. European Journal of Human Genetics. 2003