SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples von Abiusi, Emanuela, Infante, Paola, Cagnoli, Cinzia, Lospinoso Severini, Ludovica, Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, D'Amico, Adele, Diano, Federica, Novelli, Agnese, Spartano, Serena, Fiori, Stefania, Baranello, Giovanni, Moroni, Isabella, Mora, Marina, Pasanisi, Maria Barbara, Pocino, Krizia, Le Pera, Loredana, D'Amico, Davide, Travaglini, Lorena, Ria, Francesco, Bruno, Claudio, Locatelli, Denise, Bertini, Enrico Silvio, Morandi, Lucia Ovidia, Mercuri, Eugenio, Di Marcotullio, Lucia, Tiziano, Francesco Danilo

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Amifampridine phosphate in the treatment of muscle-specific kinase myasthenia gravis: a phase IIb, randomized, double-blind, placebo-controlled, double crossover study von Bonanno, Silvia, Pasanisi, Maria Barbara, Frangiamore, Rita, Maggi, Lorenzo, Antozzi, Carlo, Andreetta, Francesca, Campanella, Angela, Brenna, Greta, Cottini, Lorenzo, Mantegazza, Renato

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Serum miR-34a-5p, miR-103a-3p, and miR-376a-3p as possible biomarkers of conversion from relapsing-remitting to secondary progressive multiple sclerosis von Agostini, Simone, Mancuso, Roberta, Citterio, Lorenzo Agostino, Caputo, Domenico, Oreni, Letizia, Nuzzi, Riccardo, Pasanisi, Maria Barbara, Rovaris, Marco, Clerici, Mario

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Myelin Basic Protein in Oligodendrocyte-Derived Extracellular Vesicles as a Diagnostic and Prognostic Biomarker in Multiple Sclerosis: A Pilot Study von Agliardi, Cristina, Guerini, Franca Rosa, Zanzottera, Milena, Bolognesi, Elisabetta, Picciolini, Silvia, Caputo, Domenico, Rovaris, Marco, Pasanisi, Maria Barbara, Clerici, Mario

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Two Single Nucleotide Polymorphisms in the Purinergic Receptor P2X7 Gene Are Associated with Disease Severity in Multiple Sclerosis von Guerini, Franca Rosa, Agliardi, Cristina, Bolognesi, Elisabetta, Zanzottera, Milena, Caputo, Domenico, Pasanisi, Maria Barbara, Rovaris, Marco, Clerici, Mario

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Acute and chronic synaptic pathology in multiple sclerosis gray matter von Vercellino, Marco, Marasciulo, Stella, Grifoni, Silvia, Vallino-Costassa, Elena, Bosa, Chiara, Pasanisi, Maria Barbara, Crociara, Paola, Casalone, Cristina, Chiò, Adriano, Giordana, Maria Teresa, Corona, Cristiano, Cavalla, Paola

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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy von Osborn, Daniel P.S., Pond, Heather L., Mazaheri, Neda, Dejardin, Jeremy, Munn, Christopher J., Mushref, Khaloob, Cauley, Edmund S., Moroni, Isabella, Pasanisi, Maria Barbara, Sellars, Elizabeth A., Hill, R. Sean, Partlow, Jennifer N., Willaert, Rebecca K., Bharj, Jaipreet, Malamiri, Reza Azizi, Galehdari, Hamid, Shariati, Gholamreza, Maroofian, Reza, Mora, Marina, Swan, Laura E., Voit, Thomas, Conti, Francesco J., Jamshidi, Yalda, Manzini, M. Chiara

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Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over study von Sechi, Annalisa, Zuccarelli, Lucrezia, Grassi, Bruno, Frangiamore, Rita, De Amicis, Ramona, Marzorati, Mauro, Porcelli, Simone, Tullio, Annarita, Bacco, Anna, Bertoli, Simona, Dardis, Andrea, Biasutti, Lea, Pasanisi, Maria Barbara, Devigili, Grazia, Bembi, Bruno

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Quantitative Muscle MRI Protocol as Possible Biomarker in Becker Muscular Dystrophy von Maggi, Lorenzo, Moscatelli, Marco, Frangiamore, Rita, Mazzi, Federica, Verri, Mattia, De Luca, Alberto, Pasanisi, Maria Barbara, Baranello, Giovanni, Tramacere, Irene, Chiapparini, Luisa, Bruzzone, Maria Grazia, Mantegazza, Renato, Aquino, Domenico

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Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study von Tiziano, Francesco D, Lomastro, Rosa, Di Pietro, Lorena, Barbara Pasanisi, Maria, Fiori, Stefania, Angelozzi, Carla, Abiusi, Emanuela, Angelini, Corrado, Sorarù, Gianni, Gaiani, Alessandra, Mongini, Tiziana, Vercelli, Liliana, Vasco, Gessica, Vita, Giuseppe, Luca Vita, Gian, Messina, Sonia, Politano, Luisa, Passamano, Luigia, Di Gregorio, Grazia, Montomoli, Cristina, Orsi, Chiara, Campanella, Angela, Mantegazza, Renato, Morandi, Lucia

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DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies von Ruggieri, Alessandra, Saredi, Simona, Zanotti, Simona, Pasanisi, Maria Barbara, Maggi, Lorenzo, Mora, Marina

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Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy von Ruggieri, Alessandra, Brancati, Francesco, Zanotti, Simona, Maggi, Lorenzo, Pasanisi, Maria Barbara, Saredi, Simona, Terracciano, Chiara, Antozzi, Carlo, D Apice, Maria Rosaria, Sangiuolo, Federica, Novelli, Giuseppe, Marshall, Christian R, Scherer, Stephen W, Morandi, Lucia, Federici, Luca, Massa, Roberto, Mora, Marina, Minassian, Berge A

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Biobank of Cells, Tissues and DNA from Patients with Neuromuscular Diseases: An Indispensable link between Clinical Centers and the Scientific Community von Mora, Marina, Bragato, Cinzia, Gibertini, Sara, Zanotti, Simona, Curcio, Maurizio, Canioni, Eleonora, Salerno, Franco, Blasevich, Flavia, Saredi, Simona, Ruggieri, Alessandra, Pasanisi, Maria Barbara, Bernasconi, Pia, Maggi, Lorenzo, Mantegazza, Renato, Andreetta, Francesca

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Natural history of skeletal muscle laminopathies: a 2-year prospective study von Santovito, Luca Spiro, Bonanno, Silvia, Pasanisi, Maria Barbara, Gallone, Annamaria, Ricci, Federica, Tramacere, Irene, Zanin, Riccardo, Previtali, Stefano Carlo, Maggi, Lorenzo

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Aging‐associated genes and let‐7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy von Cappelletti, Cristina, Galbardi, Barbara, Bruttini, Mirella, Salerno, Franco, Canioni, Eleonora, Pasanisi, Maria Barbara, Rodolico, Carmelo, Brizzi, Teresa, Mora, Marina, Renieri, Alessandra, Maggi, Lorenzo, Bernasconi, Pia, Mantegazza, Renato

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders von Savarese, Marco, Maggi, Lorenzo, Vihola, Anna, Jonson, Per Harald, Tasca, Giorgio, Ruggiero, Lucia, Bello, Luca, Magri, Francesca, Giugliano, Teresa, Torella, Annalaura, Evilä, Anni, Di Fruscio, Giuseppina, Vanakker, Olivier, Gibertini, Sara, Vercelli, Liliana, Ruggieri, Alessandra, Antozzi, Carlo, Luque, Helena, Janssens, Sandra, Pasanisi, Maria Barbara, Fiorillo, Chiara, Raimondi, Monika, Ergoli, Manuela, Politano, Luisa, Bruno, Claudio, Rubegni, Anna, Pane, Marika, Santorelli, Filippo M, Minetti, Carlo, Angelini, Corrado, De Bleecker, Jan, Moggio, Maurizio, Mongini, Tiziana, Comi, Giacomo Pietro, Santoro, Lucio, Mercuri, Eugenio, Pegoraro, Elena, Mora, Marina, Hackman, Peter, Udd, Bjarne, Nigro, Vincenzo

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A Chaperone Enhances Blood α-Glucosidase Activity in Pompe Disease Patients Treated With Enzyme Replacement Therapy von Parenti, Giancarlo, Fecarotta, Simona, la Marca, Giancarlo, Rossi, Barbara, Ascione, Serena, Donati, Maria Alice, Morandi, Lucia Ovidia, Ravaglia, Sabrina, Pichiecchio, Anna, Ombrone, Daniela, Sacchini, Michele, Pasanisi, Maria Barbara, De Filippi, Paola, Danesino, Cesare, Della Casa, Roberto, Romano, Alfonso, Mollica, Carmine, Rosa, Margherita, Agovino, Teresa, Nusco, Edoardo, Porto, Caterina, Andria, Generoso

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Dietary habits, nutritional status and risk of a first demyelinating event: an incident case-control study in a southern European cohort von Cavalla, Paola, Golzio, Paola, Maietta, Daniela, Bosa, Chiara, Pasanisi, Maria Barbara, Alteno, Anastasia, Schillaci, Valentina, Costantini, Gianfranco, Durelli, Paola, Cuffini, Erica, Panizzolo, Stefania, De Francesco, Antonella, Chiò, Adriano, Vercellino, Marco

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Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene von Pasanisi, Maria Barbara, Missaglia, Sara, Cassandrini, Denise, Salerno, Franco, Farina, Stefania, Andreini, Daniele, Agostoni, Piergiuseppe, Morandi, Lucia, Mora, Marina, Tavian, Daniela

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Perceived efficacy of salbutamol by persons with spinal muscular atrophy: A mixed methods study: Perceived Efficacy of Salbutamol in SMA von Giovannetti, Ambra M., Pasanisi, Maria Barbara, Černiauskaitė, Milda, Bussolino, Chiara, Leonardi, Matilde, Morandi, Lucia

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