publicações selecionadas
-
artigo académico
- Differential effects of lifespan-extending genetic manipulations in an animal model of MJD/SCA3. Mechanisms of Ageing and Development. 2025
- Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3. Journal of Clinical Investigation. 2024
- Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V. Pediatric Research. 2023
- Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients. Endocrine, Metabolic & Immune Disorders - Drug Targets. 2023
- Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions. Genetics in Medicine Open. 2023
- Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans. Biomedicine. 2022
- Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders. Frontiers in Neurology. 2021
- Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration. Molecular Neurobiology. 2020
- From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation. Neurotherapeutics. 2019
-
documento
- Establishment of a Novel Assay to identify drugs that enhance protein homeostasis: towards treatment of Neurodegenerative Diseases 2024
- Unveiling Promising Compounds for Boosting Proteostasis: A Rapid Whole-Organism Phenotypic Assay. 2023
- A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease 2019