publicações selecionadas
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artigo académico
- In Vivo Molecular Signatures of Cerebellar Pathology in Spinocerebellar Ataxia Type 3. Movement Disorders. 2020
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artigo de revista
- Citalopram Reduces Aggregation of ATXN3 in a YAC Transgenic Mouse Model of Machado-Joseph Disease. Molecular Neurobiology. 2018
- Dominant negative effect of polyglutamine expansion perturbs normal function of ataxin-3 in neuronal cells. Human Molecular Genetics. 2015
- Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products. Neurobiology of Disease. 2010
- Absence of ataxin-3 leads to cytoskeletal disorganization and increased cell death. Biochimica Et Biophysica Acta-Molecular Cell Research. 2010
- Ataxin-3 Plays a Role in Mouse Myogenic Differentiation through Regulation of Integrin Subunit Levels. Antibiotics. 2010
- Increased transcript diversity: Novel splicing variants of Machado-Joseph Disease gene (ATXN3). Neurogenetics. 2010
- Functional genomics and biochemical characterization of the C-elegans orthologue of the Machado-Joseph disease protein ataxin-3. Faseb Journal. 2007
- Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype. Journal of Human Genetics. 2006
- The CAG repeat at the Huntington disease gene in the Portuguese population: Insights into its dynamics and to the origin of the mutation. Journal of Human Genetics. 2006
- Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology. 2005
- Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea. Neurogenetics. 2005
- Population genetics of wild-type CAG repeats in the Machado-Joseph Disease gene in Portugal. Human Heredity. 2005
- Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: Trapping early oligomers of non-expanded ataxin-3. Journal of Molecular Biology. 2005
- Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.. Genomics. 2004
- 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
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documento
- Preclinical evidence supporting serotonergic modulation as a therapeutic approach for Spinocerebellar Ataxia 3 2019
- Susceptibility and disease progression in Portuguese patients with multiple sclerosis: study of the role of APOE and SCA2 loci 2002
- Study of the APOE and SCA2 loci in multiple sclerosis patients of Portuguese origin 2002
- Identification of 3 new intragenic polymorphisms in the MJD1 gene and study of its frequency in the portuguese population 2001
- Identification of three novel polymorphisms in the MJD1 gene and their frequency study in a Portuguese population 2001
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teses