MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization by Michela Ripolone, Simona Zanotti, Laura Napoli, Dario Ronchi, Patrizia Ciscato, Giacomo Pietro Comi, Maurizio Moggio, Monica Sciacco

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The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls by Francesca Magri, Laura Napoli, Michela Ripolone, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco, Simona Zanotti

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Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy by Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco

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Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia by Marica Meroni, Miriam Longo, Miriam Longo, Erika Paolini, Erika Paolini, Giada Tria, Michela Ripolone, Laura Napoli, Maurizio Moggio, Anna Ludovica Fracanzani, Anna Ludovica Fracanzani, Paola Dongiovanni

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Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy by Michela Ripolone, Daniele Velardo, Stefania Mondello, Simona Zanotti, Francesca Magri, Elisa Minuti, Sara Cazzaniga, Francesco Fortunato, Patrizia Ciscato, Francesca Tiberio, Monica Sciacco, Maurizio Moggio, Paolo Bettica, Giacomo P. Comi

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Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in <i>Phospholamban</i> Gene by Simona Zanotti, Michela Ripolone, Laura Napoli, Daniele Velardo, Sabrina Salani, Patrizia Ciscato, Silvia Priori, Deni Kukavica, Andrea Mazzanti, Luca Diamanti, Elisa Vegezzi, Maurizio Moggio, Stefania Corti, Giacomo Comi, Monica Sciacco

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Lafora Disease: A Case Report and Evolving Treatment Advancements by Carola Rita Ferrari Aggradi, Martina Rimoldi, Gloria Romagnoli, Daniele Velardo, Megi Meneri, Davide Iacobucci, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Maurizio Moggio, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti, Elena Abati

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Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review by Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi

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Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes by Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D’Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga

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Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant by Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi

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Cell environment shapes TDP-43 function with implications in neuronal and muscle disease by Urša Šušnjar, Neva Škrabar, Anna-Leigh Brown, Yasmine Abbassi, Hemali Phatnani, NYGC ALS Consortium, Andrea Cortese, Cristina Cereda, Enrico Bugiardini, Rosanna Cardani, Giovanni Meola, Michela Ripolone, Maurizio Moggio, Maurizio Romano, Maria Secrier, Pietro Fratta, Emanuele Buratti

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Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies by Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Nereo Bresolin, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Francesca Magri

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Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition by Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti

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Flvcr1a deficiency promotes heme-based energy metabolism dysfunction in skeletal muscle by Miriam Mistretta, Veronica Fiorito, Anna Lucia Allocco, Giorgia Ammirata, Myriam Y. Hsu, Sabrina Digiovanni, Marzia Belicchi, Laura Napoli, Michela Ripolone, Elena Trombetta, PierLuigi Mauri, Andrea Farini, Mirella Meregalli, Chiara Villa, Paolo Ettore Porporato, Barbara Miniscalco, Simonetta Geninatti Crich, Chiara Riganti, Yvan Torrente, Emanuela Tolosano

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Givinostat for Becker muscular dystrophy: A randomized, placebo-controlled, double-blind study by Giacomo P. Comi, Giacomo P. Comi, Erik H. Niks, Erik H. Niks, Krista Vandenborne, Claudia M. Cinnante, Hermien E. Kan, Hermien E. Kan, Rebecca J. Willcocks, Daniele Velardo, Francesca Magri, Michela Ripolone, Jules J. van Benthem, Nienke M. van de Velde, Nienke M. van de Velde, Simone Nava, Laura Ambrosoli, Sara Cazzaniga, Paolo U. Bettica

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