基本信息
浏览量:0
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
个人简介
Is graduated in Biology (2008) and master in Forensic Genetics both by the FCUP (Faculty of Sciences, University of Porto). After 20 months of experience as research fellow iniciated a PhD in Biomedical Science at ICBAS (Instituto de Ciências Biomédicas Abel Salazar, University of Porto) concluded in 2017. In September 2017, iniciated a post-doc. Currently (2019), I became a junior researcher at CNC, Coimbra.
As research fellow, worked on the project " Phenotypic variability and modifier genes in familial amyloid polyneuropathy (TTR-FAP Val30Met). During the PhD, focused on age-at-onset (AO) variability in TTR-FAP Val30Met with aim of exploring "the role of genetic and epigenetic mechanisms as modifiers of AO in TTR-FAP Val30Met". After the PhD, iniciated a post-doc (2017 to present), focusing now on a different project, where have characterized the impact of the intronic and synonymous variants and establishing their causative role in different neurological conditions.
Co-supervised one MSc student, successfully concluded. Recently, received some awards, including from the Portuguese Society of Human Genetics and Symposium in Advanced Research in TTR-Amyloidosis.
研究兴趣
论文共 24 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Joana Damásio, Diana Santos, S. Sara Morais, José Brás, Rita Guerreiro, Ana Sardoeira, Sara Cavaco, Inês Carrilho, Clara Barbot, José Barros, Jorge Sequeiros
crossref(2021)
Annals of Clinical and Translational Neurologyno. 4 (2019): 748-754
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn