検索結果 - Stefania Corti

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction 著者: Monica Sciacco, Sabrina Lucchiari, Letizia Bertolasi, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Dario Ronchi, Dario Ronchi

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Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita 著者: Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Dario Ronchi, Dario Ronchi

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Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments? 著者: Elena Abati, Elena Abati, Eleonora Mauri, Martina Rimoldi, Martina Rimoldi, Barbara Madini, Francesca Patria, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti

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New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives 著者: Megi Meneri, Sara Bonato, Delia Gagliardi, Giacomo P. Comi, Stefania Corti

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Case Report: Acute onset hemiparesis in a young man: do not miss Crohn’s disease 著者: Virginia Iacobelli, Simone Tagliabue, Beatrice Modello, Daniele Velardo, Elena Abati, Fabio Triulzi, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Delia Gagliardi, Mosè Parisi

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Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives 著者: Claudia Alberti, Federica Rizzo, Alessia Anastasia, Giacomo Comi, Stefania Corti, Elena Abati

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Cardiac risk and myocardial fibrosis assessment with cardiac magnetic resonance in patients with myotonic dystrophy 著者: Elena Abati, Elena Abati, Claudia Alberti, Valentina Tambè, Anastasia Esseridou, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Giovanni Meola, Giovanni Meola, Francesco Secchi, Francesco Secchi

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A novel DNM2 variant associated with centronuclear myopathy: a case report 著者: Martina Rimoldi, Daniele Velardo, Simona Zanotti, Michela Ripolone, Roberto Del Bo, Patrizia Ciscato, Laura Napoli, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi

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Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review 著者: 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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Case report: A novel patient presenting TRIM32-related limb-girdle muscular dystrophy 著者: 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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Targeting PTB for Glia-to-Neuron Reprogramming In Vitro and In Vivo for Therapeutic Development in Neurological Diseases 著者: Matilde Contardo, Roberta De Gioia, Delia Gagliardi, Giacomo Pietro Comi, Linda Ottoboni, Monica Nizzardo, Stefania Corti

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Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant 著者: 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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Mitochondrial Fusion Proteins and Human Diseases 著者: Michela Ranieri, Simona Brajkovic, Giulietta Riboldi, Dario Ronchi, Federica Rizzo, Nereo Bresolin, Stefania Corti, Giacomo P. Comi

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A rare association of Guillain–Barré syndrome/Miller–Fisher syndrome overlap syndrome and Herpes Simplex Virus Type 1 infection: trigger or exacerbating factor? 著者: Claudia Alberti, Nicola Molitierno, Virginia Iacobelli, Daniele Velardo, Giacomo Pietro Comi, Stefania Corti, Mosè Parisi, Elena Abati

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Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition 著者: 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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NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients 著者: Arianna Manini, Delia Gagliardi, Megi Meneri, Sara Antognozzi, Roberto Del Bo, Giacomo Pietro Comi, Stefania Corti, Dario Ronchi

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Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets 著者: Delia Gagliardi, Elisa Pagliari, Megi Meneri, Valentina Melzi, Federica Rizzo, Giacomo Pietro Comi, Stefania Corti, Michela Taiana, Monica Nizzardo

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Exploring multiorgan mitochondrial dysfunction in the switch toward progressive MASLD in AMLN mice 著者: Marica Meroni, Erika Paolini, Miriam Longo, Michele Battistin, Daniele Dondossola, Michela Ripolone, Laura Napoli, Ettore Mosca, Stefania Corti, Paola Dongiovanni

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iPSC-Derived Neural Stem Cells Act via Kinase Inhibition to Exert Neuroprotective Effects in Spinal Muscular Atrophy with Respiratory Distress Type 1 著者: Chiara Simone, Monica Nizzardo, Federica Rizzo, Margherita Ruggieri, Giulietta Riboldi, Sabrina Salani, Monica Bucchia, Nereo Bresolin, Giacomo P. Comi, Stefania Corti

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The impact of upper motor neuron involvement on clinical features, disease progression and prognosis in amyotrophic lateral sclerosis 著者: Eleonora Colombo, Francesco Gentile, Alessio Maranzano, Alberto Doretti, Federico Verde, Federico Verde, Marco Olivero, Delia Gagliardi, Delia Gagliardi, Matteo Faré, Matteo Faré, Megi Meneri, Megi Meneri, Barbara Poletti, Luca Maderna, Stefania Corti, Stefania Corti, Massimo Corbo, Claudia Morelli, Vincenzo Silani, Vincenzo Silani, Nicola Ticozzi, Nicola Ticozzi

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