publicações selecionadas
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artigo académico
- Inflammation and Exosomes in Fabry Disease Pathogenesis. Cells. 2024
- A divided ventricle: A rare case of hypertrophic cardiomyopathy with ‘burned out’ apex. Revista Portuguesa de Cardiologia. 2015
- Aortic root to left atrium fistula: a rare complication of infective endocarditis in a native aortic valve. Int J Cardiovasc Imaging. 2014
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artigo de conferência
- Gait classification of patients with Fabry's disease based on normalized gait features obtained using multiple regression models. IEEE International Conference on Bioinformatics and Biomedicine - BIBM. 2019
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artigo de revista
- Fabry disease and the heart: a comprehensive review. International Journal of Molecular Sciences. 2021
- Fabry Disease Therapy: State-of-the-Art and Current Challenges. International Journal of Molecular Sciences. 2020
- Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees. Journal of Parkinson's Disease. 2020
- Screening for Fabry disease in patients with left ventricular noncompaction. Revista Portuguesa de Cardiologia. 2019
- p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. Cardiology. 2019
- High-resolution seismocardiogram acquisition and analysis system. Bioengineering. 2018
- Biomarkers of myocardial fibrosis: Revealing the natural history of fibrogenesis in Fabry disease cardiomyopathy. Annals of Vascular Surgery. 2018
- Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. European Journal of Medical Genetics. 2018
- New biomarkers defining a novel early stage of Fabry nephropathy: A diagnostic test study. Molecular Genetics and Metabolism. 2017
- Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease. Cardiology. 2017
- Prosthetic aortic valve: a bone in the system. Revista Portuguesa de Cardiologia. 2015
- Reduced glucosylceramide in the mouse model of Fabry disease: correction by successful enzyme replacement therapy. Gene. 2014
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capítulo de livro
- Gait Characteristics and Their Discriminative Ability in Patients with Fabry Disease with and Without White-Matter Lesions. Computational Methods in Applied Sciences. 2020
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documento
- Old meets new: 2. eDNA metabarcoding vs morphological analyses for detecting ichthyoplankton in the Guadiana estuary. 2023
- The association between potential risk factors and cerebral white matter lesions in Fabry Disease patients 2021
- Normalization of gait features using Multiple Regression approach to classify Fabry's Disease 2020
- Performance analysis of different kernels on SVM classification using different feature selection methods on Parkinsonian gait 2019
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teses