Protein phosphatase 1 is a key player in nuclear events S Rebelo, M Santos, F Martins, EFC e Silva, OABC e Silva Cellular signalling 27 (12), 2589-2598, 2015 | 98 | 2015 |
Rare and common variants conferring risk of tooth agenesis L Jonsson, TE Magnusson, A Thordarson, T Jonsson, F Geller, B Feenstra, ... Journal of dental research 97 (5), 515-522, 2018 | 49 | 2018 |
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 |
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 |
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 |
The nuclear envelope protein, LAP1B, is a novel protein phosphatase 1 substrate M Santos, S Rebelo, PJM Van Kleeff, CE Kim, WT Dauer, M Fardilha, ... PloS one 8 (10), e76788, 2013 | 28 | 2013 |
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 |
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 |
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 |
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 |
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 |
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 |
Validation of LAP1B as a novel Protein Phosphatase 1 regulator M Santos Aveiro: Biology Department, University of Aveiro, 2009 | 5 | 2009 |
Parkin truncating variants result in a loss-of-function phenotype M Santos, S Morais, C Pereira, J Sequeiros, I Alonso Scientific Reports 9 (1), 16150, 2019 | 4 | 2019 |
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 |
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 |
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 |
TREX1 p. A129fs and p. Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients M Foddis, S Blumenau, M Holtgrewe, K Paquette, K Westra, I Alonso, ... Neurobiology of Aging 123, 208-215, 2023 | 2 | 2023 |
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 |
Progressive Microcephaly, Spasticity and Development Delay: Novel SLC1A4 Variants in Two Portuguese Families and Literature Review J Teixeira, S Dória, M Santos, I Alonso, M Leão J Genet Genomic Sci 5 (017), 2020 | 2 | 2020 |