| Bone marrow mesenchymal stem cells' secretome exerts neuroprotective effects in a Parkinson's disease rat model B Mendes-Pinheiro, SI Anjo, B Manadas, JD Da Silva, A Marote, LA Behie, ... Frontiers in bioengineering and biotechnology 7, 294, 2019 | 92 | 2019 |
| From pathogenesis to novel therapeutics for spinocerebellar ataxia type 3: evading potholes on the way to translation JD Da Silva, A Teixeira-Castro, P Maciel Neurotherapeutics 16 (4), 1009-1031, 2019 | 55 | 2019 |
| Tet3 ablation in adult brain neurons increases anxiety-like behavior and regulates cognitive function in mice C Antunes, JD Da Silva, S Guerra-Gomes, ND Alves, F Ferreira, ... Molecular psychiatry 26 (5), 1445-1457, 2021 | 53 | 2021 |
| Phospholipase D functional ablation has a protective effect in an Alzheimer’s disease Caenorhabditis elegans model FV Bravo, J Da Silva, RB Chan, G Di Paolo, A Teixeira-Castro, TG Oliveira Scientific Reports 8 (1), 3540, 2018 | 24 | 2018 |
| Case Report: A Novel GNB1 Mutation Causes Global Developmental Delay With Intellectual Disability and Behavioral Disorders JD Da Silva, MD Costa, B Almeida, F Lopes, P Maciel, A Teixeira-Castro Frontiers in Neurology 12, 735549, 2021 | 11 | 2021 |
| Tet3 Deletion in Adult Brain Neurons of Female Mice Results in Anxiety-like Behavior and Cognitive Impairments C Antunes, JD Da Silva, S Guerra-Gomes, ND Alves, E Loureiro-Campos, ... Molecular Neurobiology 59 (8), 4892-4901, 2022 | 9 | 2022 |
| 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 … JD Da Silva, AR Soares, AM Fortuna, N Tkachenko Genetics in Medicine Open 1 (1), 100781, 2023 | 7 | 2023 |
| Ellis-van Creveld Syndrome JD Da Silva, N Tkachenko, AR Soares | 6 | 2023 |
| Aripiprazole Offsets Mutant ATXN3-Induced Motor Dysfunction by Targeting Dopamine D2 and Serotonin 1A and 2A Receptors in C. elegans A Jalles, C Vieira, J Pereira-Sousa, D Vilasboas-Campos, AF Mota, ... Biomedicines 10 (2), 370, 2022 | 6 | 2022 |
| Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of spinocerebellar ataxia type 3 S Duarte-Silva, JD Da Silva, D Monteiro-Fernandes, MD Costa, ... The Journal of Clinical Investigation 134 (5), 2024 | 5 | 2024 |
| Telehealth in genetic counselling consultations: the impact of COVID-19 in a Portuguese genetic healthcare service MAA Dantas, JD Da Silva, N Tkachenko, M Paneque Journal of Community Genetics 14 (1), 91-100, 2023 | 5 | 2023 |
| Regulation of neuronal mRNA splicing and tau isoform ratio by ATXN3 through deubiquitylation of splicing factors A Neves-Carvalho, S Duarte-Silva, JM Silva, L Meireles-Costa, ... BioRxiv, 711424, 2019 | 4 | 2019 |
| Loss of egli-1, the Caenorhabditis elegans Orthologue of a Downstream Target of SMN, Leads to Abnormalities in Sensorimotor Integration JD Da Silva, S Oliveira, J Pereira-Sousa, A Teixeira-Castro, MD Costa, ... Molecular Neurobiology 57, 1553-1569, 2020 | 3 | 2020 |
| Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V JD Da Silva, Â Pereira, AR Soares, A Guimas, S Rocha, M Cardoso, ... Pediatric Research 96 (2), 365-371, 2024 | 2 | 2024 |
| Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients. JD Da Silva, I Ribeiro, C Caseiro, E Pinto, S Rocha, H Ribeiro, C Ferreira, ... Endocrine, Metabolic & Immune Disorders Drug Targets, 2023 | 2 | 2023 |
| GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity L Kleinendorst, O Abawi, N Vos, ES van der Valk, SM Maas, AT Morgan, ... Clinical obesity, e12661, 2024 | 1 | 2024 |
| 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 … JD Da Silva, AR Soares, AM Fortuna, N Tkachenko EUROPEAN JOURNAL OF HUMAN GENETICS 32, 402-403, 2024 | 1 | 2024 |
| An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy  Pereira, N Tkachenko, AM Fortuna, I Alonso, M Cardoso, JD Da Silva Neurological Sciences 44 (9), 3303-3305, 2023 | 1 | 2023 |
| Refining the Clinical Spectrum of the 17p13. 3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication JD Da Silva, D Gonzaga, A Barreta, H Correia, AM Fortuna, AR Soares, ... Biomedicines 10 (12), 3078, 2022 | 1 | 2022 |
| Opicapone in Parkinson’s Disease: Real-World Data from a Portuguese Center F Meira-Carvalho, JD Da Silva, M Rodrigues European Neurology 84 (2), 129-131, 2021 | 1 | 2021 |