publicações selecionadas
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artigo académico
- Long-term predictors for psychological outcome of pre-symptomatic testing for late-onset neurological diseases. European Journal of Medical Genetics. 2018
- Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases. Interdisciplinaria. 2017
- Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact,Pruebas pre-sintomáticas de enfermedades neurodegenerativas: El impacto psicopatológico a largo plazo. Psicothema. 2017
- Risk perception in subjects at-risk for Familial Amyloidotic Polyneuropathy. . Universitas Psychologica. 2017
- Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases. Psychology Health & Medicine. 2016
- Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington's disease, Machado-Joseph disease, and familial amyloid polyneuropathy 2016
- Subjects At-Risk for Genetic Diseases in Portugal: Illness Representations 2016
- Depression as the Middle- and Long-Term Impact for Pre-Symptomatic Testing of Late-Onset Neurodegenerative Disorders: La Depresión como el Indicador de Impacto Psicológico a la Media y Largo Plazo de la Prueba Pre-Sintomática para Enfermedades de Aparición Tardía - A Depressão como Indicador do Impacto Psicológico a Médio e Longo Prazo do Teste Pré-Sintomático de Doenças Neurodegenerativas de Iníc. Temas em Psicologia. 2016
- Mid- and long-term anxiety levels associated with presymptomatic testing of Huntington’s disease, Machado-Joseph disease, and familial amyloid polyneuropathy 2016
- Depression levels in Pre-symptomatic Testing for Neurodegenerative Diseases: a psychological point of view. Journal of Life Medicine. 2014
- Paper Infomation. Journal of Life Medicine. 2014
- Atypical stereotypies and vocal ties in rett syndrome: An illustrative case. Movement Disorders. 2008
- O bem-estar psicológico em indivíduos de risco para doenças neurológicas hereditárias de aparecimento tardio e controlos. Psicologia, Saúde & Doenças. 2002
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artigo de revista
- Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3). Cerebellum. 2012
- The APOE ε2 allele increases the risk of Earlier Age at onset in Machado-Joseph disease. Archives of Neurology. 2011
- Rett syndrome with and without detected MECP2 mutations: An attempt to redefine phenotypes. Brain and Development. 2011
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Motor and cognitive deficits in the heterozygous leaner mouse, a Ca
v 2.1 voltage-gated Ca2+channel mutant. Neurobiology of Aging. 2008 - The C677T polymorphism in MTHFR is not associated with migraine in Portugal.. Disease Markers. 2008
- Abnormal movements in Rett syndrome are present before the regression period: A case study. Movement Disorders. 2007
- Functional genomics and biochemical characterization of the C-elegans orthologue of the Machado-Joseph disease protein ataxin-3. Faseb Journal. 2007
- NEDD8: A new ataxin-3 interactor. Biochimica Et Biophysica Acta-Molecular Cell Research. 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
- 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
- A whole genome screen for association with multiple sclerosis in Portuguese patients. Journal of Neuroimmunology. 2003
- Genetic interaction of CTLA-4 with HLA-DR15 in multiple sclerosis patients. Annals of Neurology. 2003
- 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
- Parecer sobre informação em saúde e registos informáticos de saúde [CNECV] 2011
- O bem-estar psicológico em indivíduos de risco para doenças neurológicas hereditárias de aparecimento tardio e controlos 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