Pharmacotherapy of the Lipid-Lowering Drugs: Update on Efficacy and Risk by Sabata Pierno, Olimpia Musumeci

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

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Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative–Qualitative Study by Loredana Benedetto, Olimpia Musumeci, Annunziata Giordano, Mattia Porcino, Massimo Ingrassia

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Molecular Genetics Overview of Primary Mitochondrial Myopathies by Ignazio Giuseppe Arena, Alessia Pugliese, Sara Volta, Antonio Toscano, Olimpia Musumeci

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Statin-Induced Myopathy: Translational Studies from Preclinical to Clinical Evidence by Giulia Maria Camerino, Nancy Tarantino, Ileana Canfora, Michela De Bellis, Olimpia Musumeci, Sabata Pierno

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A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies by Olimpia Musumeci, Edoardo Ferlazzo, Edoardo Ferlazzo, Edoardo Ferlazzo, Carmelo Rodolico, Antonio Gambardella, Antonio Gambardella, Monica Gagliardi, Umberto Aguglia, Umberto Aguglia, Umberto Aguglia, Antonio Toscano

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Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD) by Daniela Parisi, Olimpia Musumeci, Stefania Mondello, Teresa Brizzi, Teresa Brizzi, Rosaria Oteri, Alba Migliorato, Annamaria Ciranni, Tiziana E. Mongini, Carmelo Rodolico, Giuseppe Vita, Antonio Toscano

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Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone by Massimiliano Filosto, Stefano Cotti Piccinelli, Anna Pichiecchio, Anna Pichiecchio, Olimpia Musumeci, Anna Galvagni, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Raimondo Vitale, Alessandro Padovani, Antonio Toscano

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Hippo signaling pathway is altered in Duchenne muscular dystrophy. by Gian Luca Vita, Francesca Polito, Rosaria Oteri, Roberto Arrigo, Anna Maria Ciranni, Olimpia Musumeci, Sonia Messina, Carmelo Rodolico, Rosa Maria Di Giorgio, Giuseppe Vita, M'Hammed Aguennouz

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Energy metabolism during exercise in patients with β‐enolase deficiency (GSDXIII) by Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing

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Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models by Angelo Iannielli, Simone Bido, Lucrezia Folladori, Alice Segnali, Cinzia Cancellieri, Alessandra Maresca, Luca Massimino, Alicia Rubio, Giuseppe Morabito, Leonardo Caporali, Francesca Tagliavini, Olimpia Musumeci, Giuliana Gregato, Erwan Bezard, Valerio Carelli, Valeria Tiranti, Vania Broccoli

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Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients by Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, Serenella Servidei, Giacomo Pietro Comi, Maurizio Moggio, Tiziana Mongini, Gabriele Siciliano, Massimiliano Filosto, Elena Pegoraro, Guido Primiano, Dario Ronchi, Liliana Vercelli, Daniele Orsucci, Luca Bello, Massimo Zeviani, Michelangelo Mancuso, Antonio Toscano

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Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions by Arianna Manini, Leonardo Caporali, Megi Meneri, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Valerio Carelli, Dario Ronchi, Dario Ronchi

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Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 a... by Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa

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Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study. by Andrea Martinuzzi, Domenico Montanaro, Marinela Vavla, Gabriella Paparella, Paolo Bonanni, Olimpia Musumeci, Erika Brighina, Hana Hlavata, Giuseppe Rossi, Gayane Aghakhanyan, Nicola Martino, Alessandra Baratto, Maria Grazia D'Angelo, Francesca Peruch, Marianna Fantin, Alessia Arnoldi, Andrea Citterio, Chiara Vantaggiato, Vincenzo Rizzo, Antonio Toscano, Nereo Bresolin, Maria Teresa Bassi

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A genetic modifier of symptom onset in Pompe diseaseResearch in context by Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel

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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation by Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium

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Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD) by Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino

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NGS in Hereditary Ataxia: When Rare Becomes Frequent by Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Marina A. B. Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli

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Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases by Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli

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