Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Seq... by Simona Zanotti, Daniele Velardo, Monica Sciacco

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Statins Neuromuscular Adverse Effects by Silvia Attardo, Olimpia Musumeci, Daniele Velardo, Antonio Toscano

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Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Wom... by Gioconda Furciniti, Giuseppe Casalino, Francesco M. Lo Russo, Niccolò Bolli, Megi Meneri, Giacomo P. Comi, Stefania P. Corti, Daniele Velardo

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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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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

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Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient by Elena Abati, Irene Faravelli, Francesca Magri, Alessandra Govoni, Daniele Velardo, Delia Gagliardi, Eleonora Mauri, Roberta Brusa, Nereo Bresolin, Giovanna Fabio, Giacomo Pietro Comi, Maria Carrabba, Stefania Corti

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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

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Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes by Daniele Velardo, Maria Grazia D'Angelo, Andrea Citterio, Elena Panzeri, Laura Napoli, Claudia Cinnante, Claudia Cinnante, Maurizio Moggio, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Maria Teresa Bassi

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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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Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review by Marco Olivero, Delia Gagliardi, Delia Gagliardi, Gianluca Costamagna, Daniele Velardo, Francesca Magri, Fabio Triulzi, Giorgio Conte, Giacomo P. Comi, Giacomo P. Comi, Stefania Corti, Stefania Corti, Megi Meneri, Megi Meneri

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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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Clinical and genetic features of a cohort of patients with MFN2-related neuropathy by Elena Abati, Arianna Manini, Daniele Velardo, Roberto Del Bo, Laura Napoli, Federica Rizzo, Maurizio Moggio, Nereo Bresolin, Emilia Bellone, Maria Teresa Bassi, Maria Grazia D’Angelo, Giacomo Pietro Comi, Stefania Corti

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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

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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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NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia by Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza Lamperti

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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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Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature by Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Elena Abati, Roberta Brusa, Irene Faravelli, Daniela Piga, Dario Ronchi, Fabio Triulzi, Lorenzo Peverelli, Monica Sciacco, Nereo Bresolin, Nereo Bresolin, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Stefania Corti, Alessandra Govoni, Alessandra Govoni

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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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