| International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: diagnosis, treatment and follow up R Altassan, R Péanne, J Jaeken, R Barone, M Bidet, D Borgel, S Brasil, ... Journal of inherited metabolic disease 42 (1), 5-28, 2019 | 133 | 2019 |
| Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, ... Journal of inherited metabolic disease 40, 195-207, 2017 | 126 | 2017 |
| The challenge of CDG diagnosis R Francisco, D Marques-da-Silva, S Brasil, C Pascoal, ... Molecular genetics and metabolism 126 (1), 1-5, 2019 | 117 | 2019 |
| Recognizable phenotypes in CDG CR Ferreira, R Altassan, D Marques-Da-Silva, R Francisco, J Jaeken, ... Journal of inherited metabolic disease 41, 541-553, 2018 | 110 | 2018 |
| CDG therapies: from bench to bedside S Brasil, C Pascoal, R Francisco, D Marques-da-Silva, G Andreotti, ... International journal of molecular sciences 19 (5), 1304, 2018 | 101 | 2018 |
| Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature D Marques-da-Silva, R Francisco, D Webster, V Dos Reis Ferreira, ... Journal of Inherited Metabolic Disease 40, 657-672, 2017 | 68 | 2017 |
| International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up, and management R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ... Journal of inherited metabolic disease 44 (1), 148-163, 2021 | 52 | 2021 |
| Caveolin-rich lipid rafts of the plasma membrane of mature cerebellar granule neurons are microcompartments for calcium/reactive oxygen and nitrogen species cross-talk signaling. D Marques-da-Silva, C Gutierrez-Merino Cell Calcium 56, 108-23, 2014 | 44 | 2014 |
| Molecular mechanisms linking environmental toxicants to cancer development: Significance for protective interventions with polyphenols R Lagoa, D Marques-da-Silva, M Diniz, M Daglia, A Bishayee Seminars in Cancer Biology 80, 118-144, 2022 | 43 | 2022 |
| Polyoxovanadate inhibition of Escherichia coli growth shows a reverse correlation with Ca 2+-ATPase inhibition D Marques-da-Silva, G Fraqueza, R Lagoa, AA Vannathan, SS Mal, ... New Journal of Chemistry 43 (45), 17577-17587, 2019 | 38 | 2019 |
| Metal alginates for polyphenol delivery systems: Studies on crosslinking ions and easy-to-use patches for release of protective flavonoids in skin J Silva, P Vanat, D Marques-da-Silva, JR Rodrigues, R Lagoa Bioactive Materials 5 (3), 447-457, 2020 | 37 | 2020 |
| Stimulation and clustering of cytochrome b5 reductase in caveolin-rich lipid microdomains is an early event in oxidative stress-mediated apoptosis of cerebellar granule neurons AK Samhan-Arias, D Marques-da-Silva, N Yanamala, C Gutierrez-Merino Journal of proteomics 75 (10), 2934-2949, 2012 | 37 | 2012 |
| Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review C Pascoal, S Brasil, R Francisco, D Marques-da-Silva, A Rafalko, ... Orphanet Journal of Rare Diseases 13, 1-16, 2018 | 33 | 2018 |
| New insights into immunological involvement in congenital disorders of glycosylation (CDG) from a people-centric approach R Francisco, C Pascoal, D Marques-da-Silva, S Brasil, ... Journal of Clinical Medicine 9 (7), 2092, 2020 | 31 | 2020 |
| L-type calcium channels and cytochrome b5 reductase are components of protein complexes tightly associated with lipid rafts microdomains of the neuronal plasma membrane D Marques-da-Silva, AK Samhan-Arias, T Tiago, C Gutierrez-Merino Journal of proteomics 73 (8), 1502-1510, 2010 | 30 | 2010 |
| L-type voltage-operated calcium channels, N-methyl-D-aspartate receptors and neuronal nitric-oxide synthase form a calcium/redox nano-transducer within lipid rafts D Marques-da-Silva, C Gutierrez-Merino Biochemical and Biophysical Research Communications 420 (2), 257-262, 2012 | 29 | 2012 |
| Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review R Francisco, C Pascoal, D Marques‐da‐Silva, E Morava, GA Gole, ... Journal of inherited metabolic disease 42 (1), 29-48, 2019 | 27 | 2019 |
| Early disruption of the actin cytoskeleton in cultured cerebellar granule neurons exposed to 3-morpholinosydnonimine-oxidative stress is linked to alterations of the cytosolic … T Tiago, D Marques-da-Silva, AK Samhan-Arias, M Aureliano, ... Cell Calcium 49 (3), 174-183, 2011 | 26 | 2011 |
| Creatine protects against cytosolic calcium dysregulation, mitochondrial depolarization and increase of reactive oxygen species production in rotenone-induced cell death of … S Fortalezas, D Marques-da-Silva, C Gutierrez-Merino Neurotoxicity Research 34, 717-732, 2018 | 19 | 2018 |
| Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them? C Cardao, L Barros, R Francisco, D Silva, VR Ferreira Disability and Health Journal 14 (3), 101065, 2021 | 18 | 2021 |
