| 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 | 118 | 2017 |
| Pharmacological chaperones: a therapeutic approach for diseases caused by destabilizing missense mutations L Liguori, M Monticelli, M Allocca, B Hay Mele, J Lukas, MV Cubellis, ... International journal of molecular sciences 21 (2), 489, 2020 | 101 | 2020 |
| Immunological aspects of congenital disorders of glycosylation (CDG): a review M Monticelli, T Ferro, J Jaeken, V dos Reis Ferreira, PA Videira Journal of inherited metabolic disease 39 (6), 765-780, 2016 | 69 | 2016 |
| Looking for protein stabilizing drugs with thermal shift assay G Andreotti, M Monticelli, MV Cubellis Drug testing and analysis 7 (9), 831-834, 2015 | 57 | 2015 |
| Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women M Monticelli, B Hay Mele, E Benetti, C Fallerini, M Baldassarri, S Furini, ... Genes 12 (4), 596, 2021 | 50 | 2021 |
| Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance MV Cubellis, L Pignata, A Verma, A Sparago, R Del Prete, M Monticelli, ... Clinical epigenetics 12, 1-13, 2020 | 45 | 2020 |
| β-Glucose-1, 6-bisphosphate stabilizes pathological phophomannomutase2 mutants in vitro and represents a lead compound to develop pharmacological chaperones for the most common … M Monticelli, L Liguori, M Allocca, G Andreotti, MV Cubellis International Journal of Molecular Sciences 20 (17), 4164, 2019 | 38 | 2019 |
| The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can … V Citro, C Cimmaruta, M Monticelli, G Riccio, B Hay Mele, MV Cubellis, ... International journal of molecular sciences 19 (8), 2218, 2018 | 36 | 2018 |
| Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19 M Monticelli, BH Mele, G Andreotti, MV Cubellis, G Riccio European journal of medical genetics 64 (6), 104227, 2021 | 22 | 2021 |
| Drug repositioning for Fabry disease: acetylsalicylic acid potentiates the stabilization of lysosomal alpha-galactosidase by pharmacological chaperones M Monticelli, L Liguori, M Allocca, A Bosso, G Andreotti, J Lukas, ... International Journal of Molecular Sciences 23 (9), 5105, 2022 | 19 | 2022 |
| Mechanistic insight into the mode of action of acid β-glucosidase enhancer ambroxol S Pantoom, L Hules, C Schöll, A Petrosyan, M Monticelli, J Pospech, ... International journal of molecular sciences 23 (7), 3536, 2022 | 15 | 2022 |
| Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or … L Pignata, F Cecere, A Verma, B Hay Mele, M Monticelli, B Acurzio, ... Clinical Epigenetics 14 (1), 71, 2022 | 12 | 2022 |
| Oxidoreductases and metal cofactors in the functioning of the earth B Hay Mele, M Monticelli, S Leone, D Bastoni, B Barosa, M Cascone, ... Essays in Biochemistry 67 (4), 653-670, 2023 | 11 | 2023 |
| Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease M Monticelli, B Hay Mele, M Allocca, L Liguori, J Lukas, MC Monti, ... International Journal of Molecular Sciences 24 (2), 1095, 2023 | 10 | 2023 |
| Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease RC Vignogna, M Allocca, M Monticelli, JW Norris, R Steet, EO Perlstein, ... Elife 11, e79346, 2022 | 10 | 2022 |
| Congenital disorders of glycosylation: narration of a story through its patents M Monticelli, T D’Onofrio, J Jaeken, E Morava, G Andreotti, MV Cubellis Orphanet Journal of Rare Diseases 18 (1), 247, 2023 | 9 | 2023 |
| Enzyme replacement therapy for FABRY disease: possible strategies to improve its efficacy I Iacobucci, B Hay Mele, F Cozzolino, V Monaco, C Cimmaruta, M Monti, ... International Journal of Molecular Sciences 24 (5), 4548, 2023 | 8 | 2023 |
| E-learning for rare diseases: An example using Fabry disease C Cimmaruta, L Liguori, M Monticelli, G Andreotti, V Citro International Journal of Molecular Sciences 18 (10), 2049, 2017 | 7 | 2017 |
| Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective M Monticelli, R Francisco, S Brasil, D Marques-da-Silva, T Rijoff, ... Orphanet Journal of Rare Diseases 17 (1), 303, 2022 | 5 | 2022 |
| Gen-COVID Multicenter Study M Monticelli, B Hay Mele, E Benetti, C Fallerini, M Baldassarri, S Furini, ... Genes 12, 596, 2021 | 5 | 2021 |
Maria Vittoria CubellisUniversity of Naples Federico II在 unina.it 的电子邮件经过验证
