Hasil Pencarian - Maria Monticelli

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  1. 1
    E-Learning for Rare Diseases: An Example Using Fabry Disease

    E-Learning for Rare Diseases: An Example Using Fabry Disease oleh Chiara Cimmaruta, Ludovica Liguori, Maria Monticelli, Giuseppina Andreotti, Valentina Citro

    Diterbitkan 2017-09-01
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  2. 2
    β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG

    β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Diso... oleh Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, Giuseppina Andreotti, Maria Vittoria Cubellis

    Diterbitkan 2019-08-01
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  3. 3
    Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach

    Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach oleh Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Maria Vittoria Cubellis, Bruno Hay Mele

    Diterbitkan 2020-08-01
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  4. 4
    Congenital disorders of glycosylation: narration of a story through its patents

    Congenital disorders of glycosylation: narration of a story through its patents oleh Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis

    Diterbitkan 2023-08-01
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  5. 5
    The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

    The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification... oleh Valentina Citro, Chiara Cimmaruta, Maria Monticelli, Guglielmo Riccio, Bruno Hay Mele, Maria Vittoria Cubellis, Giuseppina Andreotti

    Diterbitkan 2018-07-01
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  6. 6
    Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations

    Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations oleh Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Bruno Hay Mele, Jan Lukas, Maria Vittoria Cubellis, Giuseppina Andreotti

    Diterbitkan 2020-01-01
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  7. 7
    Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy

    Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy oleh Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, Vittoria Monaco, Chiara Cimmaruta, Maria Monti, Giuseppina Andreotti, Maria Monticelli

    Diterbitkan 2023-02-01
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  8. 8
    Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol

    Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol oleh Supansa Pantoom, Larissa Hules, Christopher Schöll, Andranik Petrosyan, Maria Monticelli, Jola Pospech, Maria Vittoria Cubellis, Andreas Hermann, Jan Lukas

    Diterbitkan 2022-03-01
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  9. 9
    Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

    Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease oleh Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, Joy W Norris, Richard Steet, Ethan O Perlstein, Giuseppina Andreotti, Gregory I Lang

    Diterbitkan 2022-10-01
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  10. 10
    The current paradigm of cardiac troponin increase among athletes

    The current paradigm of cardiac troponin increase among athletes oleh Mihail Celeski, Andrea Segreti, Mariagrazia Piscione, Luigi Maria Monticelli, Giuseppe Di Gioia, Chiara Fossati, Gian Paolo Ussia, Fabio Pigozzi, Francesco Grigioni

    Diterbitkan 2024-04-01
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  11. 11
    Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease

    Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease oleh Maria Monticelli, Bruno Hay Mele, Mariateresa Allocca, Ludovica Liguori, Jan Lukas, Maria Chiara Monti, Elva Morretta, Maria Vittoria Cubellis, Giuseppina Andreotti

    Diterbitkan 2023-01-01
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  12. 12
    Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective

    Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective oleh Maria Monticelli, Rita Francisco, Sandra Brasil, Dorinda Marques-da-Silva, Tatiana Rijoff, Carlota Pascoal, Jaak Jaeken, Paula A. Videira, Vanessa dos Reis Ferreira

    Diterbitkan 2022-07-01
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  13. 13
    Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones

    Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones oleh Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, Andrea Bosso, Giuseppina Andreotti, Jan Lukas, Maria Chiara Monti, Elva Morretta, Maria Vittoria Cubellis, Bruno Hay Mele

    Diterbitkan 2022-05-01
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  14. 14
    Human Cryptic Host Defence Peptide GVF27 Exhibits Anti-Infective Properties against Biofilm Forming Members of the <i>Burkholderia cepacia</i> Complex

    Human Cryptic Host Defence Peptide GVF27 Exhibits Anti-Infective Properties against Biofilm Forming Members of the <i>Burkholderia cepacia</i> Complex oleh Andrea Bosso, Rosa Gaglione, Rocco Di Girolamo, Edwin J. A. Veldhuizen, Pilar García-Vello, Salvatore Fusco, Valeria Cafaro, Maria Monticelli, Rosanna Culurciello, Eugenio Notomista, Angela Arciello, Elio Pizzo

    Diterbitkan 2022-02-01
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  15. 15
    Changes in Cardiopulmonary Capacity Parameters after Surgery: A Pilot Study Exploring the Link between Heart Function and Knee Surgery

    Changes in Cardiopulmonary Capacity Parameters after Surgery: A Pilot Study Exploring the Link between Heart Function and Knee Surgery oleh Andrea Segreti, Chiara Fossati, Luigi Maria Monticelli, Daniele Valente, Dajana Polito, Emiliano Guerra, Andrea Zampoli, Giorgio Albimonti, Biagio Zampogna, Sebastiano Vasta, Rocco Papalia, Raffaele Antonelli Incalzi, Fabio Pigozzi, Francesco Grigioni

    Diterbitkan 2024-09-01
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