基本信息
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Career Trajectory
Bio
Mariana Santos has a BSc degree in Pathologic Anatomy and a master’s degree in Molecular and Cellular Biology. She was awarded a fellowship from FCT to pursue a PhD degree in Biomedical Sciences by the University of Aveiro, which was successfully concluded in 2014. Her thesis was focused on the characterization of protein interactions and protein phosphorylation to understand the cellular and molecular mechanisms underlying DYT1 dystonia, a rare neurological disorder.
In 2015 she initiated a post-doctoral fellow at IBMC/i3S in Porto, where she studied protein degradation in Parkinson’s disease, particularly the impact of variants on parkin cellular function. Besides, she also worked on a project aiming to identify new causative genes in spinocerebellar degenerations (hereditary spastic paraplegias and cerebellar ataxias) and validate its functions in vitro and in vivo. In 2017 she was awarded a post-doctoral fellowship from FCT, which included a period working at UCL to study the genetic basis of hereditary cerebellar ataxias using next-generation sequencing technologies. In 2019 she obtained a 6-year Junior Researcher position to continue her work on the field of hereditary cerebellar ataxias.
Research Interests
Papers共 50 篇Author StatisticsCo-AuthorSimilar Experts
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Journal of Neurologyno. 9 (2024): 1-16
Mariana Santos, Emanuelly Cristina Lopes Silva,Luana Dandara Barreto Torres, POLLYANA LIMA ALVES DIAS, NIVALDO CERQUEIRA CONCEIÇÃO JÚNIOR
openalex(2024)
Estefania Carvalho, Andreia Dias,Teresa Coelho,Daniela Felicio, Alda Sousa,Miguel Alves-Ferreira,Mariana Santos,Carolina Lemos
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 344-344
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Clinical geneticsno. 4 (2023): 479-485
Joao Sequeira,Monica Santos,Mariana Santos,Rui Pedro Guerreiro,Pedro Miguel Paredes Abreu,Sonia Batista,Joao Cerqueira,Filipa Ladeira,Joao Ferreira,Lia Leitao, Janice Alves,Emanuel Martins,Maria Jose Sa, Joao Carlos Correia Sa,Carlos Capela
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The Journal of headache and painno. 1 (2023)
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Author Statistics
#Papers: 50
#Citation: 325
H-Index: 10
G-Index: 17
Sociability: 6
Diversity: 3
Activity: 22
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