Showing 1 - 20 results of 21 for search 'Giacomo Pietro Comi', query time: 0.04s
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Advancing Drug Discovery for Neurological Disorders Using iPSC-Derived Neural Organoids by Gianluca Costamagna, Giacomo Pietro Comi, Stefania Corti
Published 2021-03-01
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Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis by Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giacomo Pietro Comi, Giovanni Meola, Giovanni Meola, Serena Pagliarani
Published 2024-02-01
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Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy by Daniele Velardo, Sara Antognozzi, Martina Rimoldi, Serena Pagliarani, Filippo Cogiamanian, Sergio Barbieri, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi
Published 2023-06-01
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Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy by Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi
Published 2024-01-01
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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
Published 2023-11-01
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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
Published 2023-01-01
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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
Published 2024-03-01
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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
Published 2023-12-01
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Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric study by Delia Gagliardi, Delia Gagliardi, Paolo Ripellino, Megi Meneri, Megi Meneri, Roberto Del Bo, Sara Antognozzi, Giacomo Pietro Comi, Giacomo Pietro Comi, Claudio Gobbi, Claudio Gobbi, Antonia Ratti, Antonia Ratti, Nicola Ticozzi, Nicola Ticozzi, Vincenzo Silani, Vincenzo Silani, Dario Ronchi, Stefania Corti, Stefania Corti
Published 2023-05-01
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Biallelic Variants in <i>ENDOG</i> Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions by Alessia Nasca, Andrea Legati, Megi Meneri, Melisa Emel Ermert, Chiara Frascarelli, Nadia Zanetti, Manuela Garbellini, Giacomo Pietro Comi, Alessia Catania, Costanza Lamperti, Dario Ronchi, Daniele Ghezzi
Published 2022-03-01
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Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the <i>SGCB</i> Gene by Francesca Magri, Simona Zanotti, Sabrina Salani, Francesco Fortunato, Patrizia Ciscato, Simonetta Gerevini, Lorenzo Maggi, Monica Sciacco, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Published 2022-08-01
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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation by Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri
Published 2023-04-01
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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
Published 2023-12-01
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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
Published 2023-03-01
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