Publications
Information about journal articles, updated at 21-12-2025, from platform CIÊNCIAVITAE.
Circadian rhythms are disrupted in patients and preclinical models of Machado-Joseph disease
Ribeiro, Rodrigo F N; Pereira, Dina; Lopes, Sara M; Reis, Tiago; Silva, Patrick; Lobo, Diana D; Gaspar, Laetitia S; et al, Brain. 4127 - 4142. 11. 148. 2025. https://doi.org/10.1093/brain/awaf199 . 10.1093/brain/awaf199 . published Brain
Extracellular vesicle-based delivery of silencing sequences for the treatment of Machado-Joseph disease/spinocerebellar ataxia type 3
Rufino-Ramos, David; Albuquerque, Patrícia R.; Leandro, Kevin; Carmona, Vitor; Martins, Inês M.; Fernandes, Rita; Henriques, Carina; et al, Molecular Therapy. 1275 - 1292. 5. 31. 2023. http://dx.doi.org/10.1016/j.ymthe.2023.04.001 . 10.1016/j.ymthe.2023.04.001 . Molecular Therapy
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia
Martins, Mariana; Oliveira, Ana Rafaela; Martins, Solange; Vieira, José Pedro; Perdigão, Pedro; Fernandes, Ana Rita; de Almeida, Luís Pereira; et al, International Journal of Molecular Sciences. 16. 24. 2023. http://dx.doi.org/10.3390/ijms241612603 . 10.3390/ijms241612603 . published International Journal of Molecular Sciences
All projects
Information of exclusive responsibility of the researcher 21-12-2025 , from platform CIÊNCIAVITAE.
2022/01 -
Genome editing to rescue Machado-Joseph disease by alternative splicing
EXPL_MED-NEU_0936_2021
Researcher
Universidade de Coimbra Centro de Neurociências e Biologia Celular
Funders: Fundação para a Ciência e a Tecnologia
2021/01/19 -
miRSilencing
NA
Research Fellow
PTC Therapeutics Inc
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