Works by Ricci, Enzo


Results: 66
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    Biochemical Characterization of Patients With In-Frame or Out-of-Frame DMD Deletions Pertinent to Exon 44 or 45 Skipping.

    Published in:
    JAMA Neurology, 2014, v. 71, n. 1, p. 32, doi. 10.1001/jamaneurol.2013.4908
    By:
    • Anthony, Karen;
    • Arechavala-Gomeza, Virginia;
    • Ricotti, Valeria;
    • Torelli, Silvia;
    • Feng, Lucy;
    • Janghra, Narinder;
    • Tasca, Giorgio;
    • Guglieri, Michela;
    • Barresi, Rita;
    • Armaroli, Annarita;
    • Ferlini, Alessandra;
    • Bushby, Katherine;
    • Straub, Volker;
    • Ricci, Enzo;
    • Sewry, Caroline;
    • Morgan, Jennifer;
    • Muntoni, Francesco
    Publication type:
    Article
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    Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 450, doi. 10.1038/ng.1103
    By:
    • Sarparanta, Jaakko;
    • Jonson, Per Harald;
    • Golzio, Christelle;
    • Sandell, Satu;
    • Luque, Helena;
    • Screen, Mark;
    • McDonald, Kristin;
    • Stajich, Jeffrey M;
    • Mahjneh, Ibrahim;
    • Vihola, Anna;
    • Raheem, Olayinka;
    • Penttilä, Sini;
    • Lehtinen, Sara;
    • Huovinen, Sanna;
    • Palmio, Johanna;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Hackman, Peter;
    • Hauser, Michael;
    • Katsanis, Nicholas
    Publication type:
    Article
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    Estrogens recover muscle regeneration impaired by the pathogenic gene, DUX4, in orthotopic human xenograft.

    Published in:
    European Journal of Translational Myology, 2023, v. 33, n. 2, p. 46, doi. 10.4081/ejtm.2023.11427
    By:
    • Maiullari, Silvia;
    • di Blasio, Giorgia;
    • Mele, Giada;
    • Manni, Isabella;
    • Teveroni, Emanuela;
    • Calandra, Patrizia;
    • Giorgini, Ludovica;
    • Mancino, Fabio;
    • Proietti, Luca;
    • Maiullari, Fabio;
    • Rizzi, Roberto;
    • Ricci, Enzo;
    • Gargioli, Cesare;
    • Pontecorvi, Alfredo;
    • Luvisetto, Siro;
    • Deidda, Giancarlo;
    • Moretti, Fabiola
    Publication type:
    Article
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    An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients.

    Published in:
    Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00564
    By:
    • Piano, Carla;
    • Di Stasio, Enrico;
    • Primiano, Guido;
    • Janiri, Delfina;
    • Luigetti, Marco;
    • Frisullo, Giovanni;
    • Vollono, Catello;
    • Lucchini, Matteo;
    • Brunetti, Valerio;
    • Monforte, Mauro;
    • Guglielmi, Valeria;
    • Della Marca, Giacomo;
    • Evoli, Amelia;
    • Marra, Camillo;
    • Mirabella, Massimiliano;
    • Quaranta, Davide;
    • Ricci, Enzo;
    • Servidei, Serenella;
    • Silvestri, Gabriella;
    • Bellavia, Simone
    Publication type:
    Article
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    Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD.

    Published in:
    Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.01027
    By:
    • Cascella, Raffaella;
    • Strafella, Claudia;
    • Caputo, Valerio;
    • Galota, Rosaria Maria;
    • Errichiello, Valeria;
    • Scutifero, Marianna;
    • Petillo, Roberta;
    • Marella, Gian Luca;
    • Arcangeli, Mauro;
    • Colantoni, Luca;
    • Zampatti, Stefania;
    • Ricci, Enzo;
    • Deidda, Giancarlo;
    • Politano, Luisa;
    • Giardina, Emiliano
    Publication type:
    Article
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    Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy.

    Published in:
    PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100292
    By:
    • Tasca, Giorgio;
    • Monforte, Mauro;
    • Iannaccone, Elisabetta;
    • Laschena, Francesco;
    • Ottaviani, Pierfrancesco;
    • Leoncini, Emanuele;
    • Boccia, Stefania;
    • Galluzzi, Giuliana;
    • Pelliccioni, Marco;
    • Masciullo, Marcella;
    • Frusciante, Roberto;
    • Mercuri, Eugenio;
    • Ricci, Enzo
    Publication type:
    Article
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    Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.

    Published in:
    FASEB Journal, 2007, v. 21, n. 4, p. 1210, doi. 10.1096/fj.06-7285com
    By:
    • Pescatori, Mario;
    • Broccolini, Aldobrando;
    • Minetti, Carlo;
    • Bertini, Enrico;
    • Bruno, Claudio;
    • D'amico, Adele;
    • Bernardini, Camilla;
    • Mirabela, Massimiliano;
    • Silvestri, Gabriella;
    • Giglio, Vincenzo;
    • Modoni, Anna;
    • Pedemonte, Marina;
    • Tasca, Giorgio;
    • Galluzzi, Giuliana;
    • Mercuri, Eugenio;
    • Tonali, Pietro A.;
    • Ricci, Enzo
    Publication type:
    Article
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    The variability of SMCHD1 gene in FSHD patients: evidence of new mutations.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 23, p. 3912, doi. 10.1093/hmg/ddz239
    By:
    • Strafella, Claudia;
    • Caputo, Valerio;
    • Galota, Rosaria Maria;
    • Campoli, Giulia;
    • Bax, Cristina;
    • Colantoni, Luca;
    • Minozzi, Giulietta;
    • Orsini, Chiara;
    • Politano, Luisa;
    • Tasca, Giorgio;
    • Novelli, Giuseppe;
    • Ricci, Enzo;
    • Giardina, Emiliano;
    • Cascella, Raffaella
    Publication type:
    Article
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    Characterization of D4Z4 alleles and assessment of de novo cases in Facioscapulohumeral dystrophy (FSHD) in a cohort of Italian families.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 3, p. 335, doi. 10.1111/cge.14466
    By:
    • Strafella, Claudia;
    • Colantoni, Luca;
    • Megalizzi, Domenica;
    • Trastulli, Giulia;
    • Piorgo, Emma Proietti;
    • Primiano, Guido;
    • Sancricca, Cristina;
    • Ricci, Giulia;
    • Siciliano, Gabriele;
    • Caltagirone, Carlo;
    • Filosto, Massimiliano;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Cascella, Raffaella;
    • Giardina, Emiliano
    Publication type:
    Article
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    Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.

    Published in:
    Brain: A Journal of Neurology, 2011, v. 134, n. 12, p. 3544, doi. 10.1093/brain/awr291
    By:
    • Anthony, Karen;
    • Cirak, Sebahattin;
    • Torelli, Silvia;
    • Tasca, Giorgio;
    • Feng, Lucy;
    • Arechavala-Gomeza, Virginia;
    • Armaroli, Annarita;
    • Guglieri, Michela;
    • Straathof, Chiara S.;
    • Verschuuren, Jan J.;
    • Aartsma-Rus, Annemieke;
    • Helderman-van den Enden, Paula;
    • Bushby, Katherine;
    • Straub, Volker;
    • Sewry, Caroline;
    • Ferlini, Alessandra;
    • Ricci, Enzo;
    • Morgan, Jennifer E.;
    • Muntoni, Francesco
    Publication type:
    Article
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    Parallel protein and transcript profiles of FSHD patient muscles correlate to the D4Z4 arrangement and reveal a common impairment of slow to fast fibre differentiation and a general deregulation of MyoD-dependent genes.

    Published in:
    Proteomics, 2006, v. 6, n. 19, p. 5303, doi. 10.1002/pmic.200600056
    By:
    • Barbara Celegato;
    • Daniele Capitanio;
    • Mario Pescatori;
    • Chiara Romualdi;
    • Beniamina Pacchioni;
    • Stefano Cagnin;
    • Agnese Viganò;
    • Luca Colantoni;
    • Shajna Begum;
    • Enzo Ricci;
    • Robin Wait;
    • Gerolamo Lanfranchi;
    • Cecilia Gelfi
    Publication type:
    Article
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    Hospital admissions from the emergency department of adult patients affected by myopathies.

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16214
    By:
    • Monforte, Mauro;
    • Torchia, Eleonora;
    • Bortolani, Sara;
    • Ravera, Beatrice;
    • Ricci, Enzo;
    • Silvestri, Gabriella;
    • Servidei, Serenella;
    • Primiano, Guido;
    • Mirabella, Massimiliano;
    • Sabatelli, Mario;
    • Mercuri, Eugenio;
    • Franceschi, Francesco;
    • Calabresi, Paolo;
    • Covino, Marcello;
    • Tasca, Giorgio
    Publication type:
    Article
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    Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials.

    Published in:
    European Journal of Neurology, 2022, v. 29, n. 3, p. 843, doi. 10.1111/ene.15174
    By:
    • Garibaldi, Matteo;
    • Nicoletti, Tommaso;
    • Bucci, Elisabetta;
    • Fionda, Laura;
    • Leonardi, Luca;
    • Morino, Stefania;
    • Tufano, Laura;
    • Alfieri, Girolamo;
    • Lauletta, Antonio;
    • Merlonghi, Gioia;
    • Perna, Alessia;
    • Rossi, Salvatore;
    • Ricci, Enzo;
    • Alonso Perez, Jorge;
    • Tartaglione, Tommaso;
    • Petrucci, Antonio;
    • Pennisi, Elena Maria;
    • Salvetti, Marco;
    • Cutter, Gary;
    • Díaz‐Manera, Jordi
    Publication type:
    Article
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    Muscle diffusion tensor imaging in facioscapulohumeral muscular dystrophy.

    Published in:
    Muscle & Nerve, 2024, v. 70, n. 2, p. 248, doi. 10.1002/mus.28179
    By:
    • Barzaghi, Leonardo;
    • Paoletti, Matteo;
    • Monforte, Mauro;
    • Bortolani, Sara;
    • Bonizzoni, Chiara;
    • Thorsten, Feiweier;
    • Bergsland, Niels;
    • Santini, Francesco;
    • Deligianni, Xeni;
    • Tasca, Giorgio;
    • Ballante, Elena;
    • Figini, Silvia;
    • Ricci, Enzo;
    • Pichiecchio, Anna
    Publication type:
    Article
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    The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.

    Published in:
    2017
    By:
    • Magri, Francesca;
    • Nigro, Vincenzo;
    • Angelini, Corrado;
    • Mongini, Tiziana;
    • Mora, Marina;
    • Moroni, Isabella;
    • Toscano, Antonio;
    • D'angelo, Maria Grazia;
    • Tomelleri, Giuliano;
    • Siciliano, Gabriele;
    • Ricci, Giulia;
    • Bruno, Claudio;
    • Corti, Stefania;
    • Musumeci, Olimpia;
    • Tasca, Giorgio;
    • Ricci, Enzo;
    • Monforte, Mauro;
    • Sciacco, Monica;
    • Fiorillo, Chiara;
    • Gandossini, Sandra
    Publication type:
    journal article
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    To the Editor.

    Published in:
    2017
    By:
    • Monforte, Mauro;
    • Servidei, Serenella;
    • Ricci, Enzo;
    • Tasca, Giorgio
    Publication type:
    Letter to the Editor
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    Redox Homeostasis in Muscular Dystrophies.

    Published in:
    Cells (2073-4409), 2021, v. 10, n. 6, p. 1364, doi. 10.3390/cells10061364
    By:
    • Mosca, Nicola;
    • Petrillo, Sara;
    • Bortolani, Sara;
    • Monforte, Mauro;
    • Ricci, Enzo;
    • Piemonte, Fiorella;
    • Tasca, Giorgio
    Publication type:
    Article
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