| Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30 M Santos, J Massano, AM Lopes, AF Brandão, JP Freixo, J Oliveira neurogenetics 24 (3), 215-218, 2023 | | 2023 |
| BRI2 and BRI3 are functionally distinct phosphoproteins F Martins, S Rebelo, M Santos, CZ Cotrim, EFC e Silva, OABC e Silva Cellular signalling 28 (1), 130-144, 2016 | 14 | 2016 |
| Characterization of Novel LAP1 Complexes and Their Relevance in DYT1 Dystonia MSM Graça PQDT-Global, 2014 | 2 | 2014 |
| Clinical and genetic characterization of Brazilian patients with ataxia and oculomotor apraxia SCG da Costa, FM Rezende Filho, JL de Freitas, ... Movement Disorders 37 (6), 1309-1316, 2022 | 2 | 2022 |
| Comparison of simple sucrose and percoll based methodologies for synaptosome enrichment P Tenreiro, S Rebelo, F Martins, M Santos, ED Coelho, M Almeida, ... Analytical Biochemistry 517, 1-8, 2017 | 22 | 2017 |
| Complex Movement Disorders in Ataxia with Oculomotor Apraxia Type 1: Beyond the Cerebellar Syndrome JL Pedroso, TC Vale, SCG da Costa, M Santos, I Alonso, OGP Barsottini Tremor and Other Hyperkinetic Movements 10, 2020 | 5 | 2020 |
| DYT1 dystonia-associated mutant affects cytoskeletal dynamics M Santos, S Rebelo, EFC e Silva, OABC e Silva Microscopy and Microanalysis 21 (S6), 26, 2015 | 3 | 2015 |
| EXPANDING THE MUTATIONAL SPECTRUM OF KMT2B GENE: SIX NOVEL VARIANTS AND TWO CASES WITH ATYPICAL PRESENTATIONS A Lopes, S Sousa, A Lopes, P Silva, S Morais, AF Brandao, F Lopes, ... MEDICINE 101 (30), 2022 | 1 | 2022 |
| Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine A Dias, M Santos, E Carvalho, D Felício, P Silva, I Alves, T Pinho, A Sousa, ... Clinical Genetics 104 (4), 479-485, 2023 | 1 | 2023 |
| Identification of a Novel Complex AβPP: Fe65: PP1 that Regulates AβPP Thr668 Phosphorylation Levels S Rebelo, SC Domingues, M Santos, M Fardilha, SLC Esteves, SI Vieira, ... Journal of Alzheimer's Disease 35 (4), 761-775, 2013 | 33 | 2013 |
| Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation. RS Santos M, Domingues SC, Costa P, Muller T, Galozzi S, Marcus K, da Cruz e ... PLoS One 9, e113732, 2014 | 45 | 2014 |
| Immunolocalization of PPP1C Isoforms in SH-SY5Y Cells during the Cell Cycle M Santos, S Rebelo, OABC e Silva, EFC e Silva Microscopy and Microanalysis 18 (S5), 41-42, 2012 | 2 | 2012 |
| Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease D Felício, M Alves-Ferreira, M Santos, M Quintas, AM Lopes, C Lemos, ... Briefings in Functional Genomics 23 (2), 138-149, 2024 | 3 | 2024 |
| LAP1 is a crucial protein for the maintenance of the nuclear envelope structure and cell cycle progression M Santos, P Costa, F Martins, EF da Cruz e Silva, OAB da Cruz e Silva, ... Molecular and cellular biochemistry 399, 143-153, 2015 | 28 | 2015 |
| Modelling SCA11 in cells using CRISPR/Cas9: functional validation of a new TTBK2 missense variant D Felicio, J Sequeiros, M Santos EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 270-270, 2022 | | 2022 |
| Molecular Characterization of Portuguese Patients with Hereditary Cerebellar Ataxia M Santos, J Damásio, S Carmona, JL Neto, N Dehghani, LC Guedes, ... Cells 11 (6), 981, 2022 | 6 | 2022 |
| Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility D Felício, A Dias, S Martins, E Carvalho, AM Lopes, N Pinto, C Lemos, ... The Journal of Headache and Pain 24 (1), 78, 2023 | | 2023 |
| Novel KMT2B mutation causes cerebellar ataxia: Expanding the clinical phenotype J Damásio, M Santos, R Samões, M Araújo, M Macedo, A Sardoeira, ... Clinical Genetics 100 (6), 743-747, 2021 | 5 | 2021 |
| Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype M Santos, J Damásio, C Kun-Rodrigues, C Barbot, J Sequeiros, J Brás, ... Journal of Clinical Medicine 9 (4), 1212, 2020 | 3 | 2020 |
| Nuclear Accumulation of LAP1: TRF2 Complex during DNA Damage Response Uncovers a Novel Role for LAP1 CD Pereira, F Martins, M Santos, T Müeller, OAB da Cruz e Silva, ... Cells 9 (8), 1804, 2020 | 19 | 2020 |
