publicações selecionadas
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artigo académico
- Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing. Neurobiology of Disease. 2022
- Variações anatómicas das artérias vertebrais. Angiologia e Cirurgia Vascular. 2013
- Carotid Artery Restenosis: Ultrasonographic Characteristics. Journal for Vascular Ultrasound. 2011
- Schwannoma of the Posterior Tibial Nerve: An Unusual Finding during Arterial Ultrasound Examination of the Lower Extremities. Journal for Vascular Ultrasound. 2011
- Small Saphenous vein diameter and pattern of reflux. European Journal of Vascular and Endovascular Surgery. 2011
- Occlusion of Inferior Vena Cava: A Singular Presentation of Abdominal Aortic Aneurysm. Case Reports in Medicine. 2009
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artigo de conferência
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artigo de revista
- Novel candidate blood-based transcriptional biomarkers of machado-joseph disease. Movement Disorders. 2015
- 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
- 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
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capítulo de livro