Search Results - Luisa Politano
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Risk of Cardiac Arrhythmias in Patients with Late-Onset Pompe Disease—Results from a Long Follow-Up in a Group of 12 Patients and Review of Literature by Alberto Palladino, Luigia Passamano, Marianna Scutifero, Salvatore Morra, Esther Picillo, Andrea Antonio Papa, Gerardo Nigro, Luisa Politano
Published in Cardiogenetics (2024-02-01)Get full text
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Cardiac involvement in laminopathies – short invited review by Gerardo Nigro, Nicola Carboni, Michal Marchel, Alberto Palladino, Agnieszka Madej-Pilarczyk, Grzegorz Opolski, Irena Hausmanowa-Petrusewicz, Luisa Politano
Published in Family Medicine & Primary Care Review (2015-12-01)Get full text
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The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks by Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
Published in Orphanet Journal of Rare Diseases (2016-10-01)Get full text
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Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction by Cristina Cappelletti, Irene Tramacere, Paola Cavalcante, Elisa Schena, Luisa Politano, Nicola Carboni, Alessandra Gambineri, Adele D’Amico, Lucia Ruggiero, Giulia Ricci, Gabriele Siciliano, Giuseppe Boriani, Tiziana Enrica Mongini, Liliana Vercelli, Elena Biagini, Matteo Ziacchi, Maria Rosaria D’Apice, Giovanna Lattanzi, Renato Mantegazza, Lorenzo Maggi, Pia Bernasconi
Published in Cells (2020-06-01)Get full text
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Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy. by Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Angela Polo, Sara Vianello, Gianni Sorarù, Claudio Semplicini, Boris Pantic, Antonella Taglia, Ester Picillo, Francesca Magri, Ksenija Gorni, Sonia Messina, Gian Luca Vita, Giuseppe Vita, Giacomo P Comi, Mario Ermani, Vincenzo Calvo, Corrado Angelini, Eric P Hoffman, Elena Pegoraro
Published in PLoS ONE (2015-01-01)Get full text
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Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study by Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group
Published in Children (2023-04-01)Get full text
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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies by Burcu Ayoglu, Amina Chaouch, Hanns Lochmüller, Luisa Politano, Enrico Bertini, Pietro Spitali, Monika Hiller, Eric H Niks, Francesca Gualandi, Fredrik Pontén, Kate Bushby, Annemieke Aartsma‐Rus, Elena Schwartz, Yannick Le Priol, Volker Straub, Mathias Uhlén, Sebahattin Cirak, Peter A C ‘t Hoen, Francesco Muntoni, Alessandra Ferlini, Jochen M Schwenk, Peter Nilsson, Cristina Al‐Khalili Szigyarto
Published in EMBO Molecular Medicine (2014-06-01)Get full text
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Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia by Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri
Published in Frontiers in Endocrinology (2023-08-01)Get full text
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Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy. by Giorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, Simona Lucibello, Elisabetta Ferraroli, Adele d'Amico, Luca Bello, Elena Pegoraro, Sonia Messina, Federica Ricci, Tiziana Mongini, Angela Berardinelli, Riccardo Masson, Stefano C Previtali, Grazia D'angelo, Francesca Magri, Giacomo P Comi, Luisa Politano, Luigia Passamano, Gianluca Vita, Valeria A Sansone, Emilio Albamonte, Chiara Panicucci, Claudio Bruno, Antonella Pini, Enrico Bertini, Stefano Patarnello, Marika Pane, Eugenio Mercuri, italian DMD study group
Published in PLoS ONE (2022-01-01)Get full text
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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
Published in Current Issues in Molecular Biology (2023-04-01)Get full text
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24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. by Elena Stacy Mazzone, Marika Pane, Maria Pia Sormani, Roberta Scalise, Angela Berardinelli, Sonia Messina, Yvan Torrente, Adele D'Amico, Luca Doglio, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Francesca Magri, Francesca Rossi, Gessica Vasco, Gianluca Vita, Maria Chiara Motta, Maria Alice Donati, Michele Sacchini, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo Pietro Comi, Enrico Bertini, Eugenio Mercuri
Published in PLoS ONE (2013-01-01)Get full text
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Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Rep... by Fernanda Fortunato, Laura Fiocco, Alice Margutti, Marcella Neri, Adele D’Amico, Enrico Bertini, Enzo Ricci, Eugenio Maria Mercuri, Marika Pane, Roberto Massa, Giulia Greco, Angela Lucia Berardinelli, Cristina Cereda, Antonella Pini, Luciano Merlini, Carlo Fusco, Carmelo Rodolico, Sonia Messina, Chiara Fiorillo, Claudio Bruno, Marina Pedemonte, Monica Traverso, Isabella Moroni, Lorenzo Maggi, Sara Gibertini, Elena Pegoraro, Esther Picillo, Luisa Politano, Marianna Scutifero, Fabiana Vercellino, Francesca Massaro, Massimiliano Filosto, Paolo Gasparini, Federica Ricci, Tiziana Enrica Mongini, Rita Selvatici, Alessandra Ferlini, Francesca Gualandi
Published in Biomolecules (2025-10-01)Get full text
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Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. by Marika Pane, Elena Stacy Mazzone, Serena Sivo, Maria Pia Sormani, Sonia Messina, Adele D'Amico, Adelina Carlesi, Gianluca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Valentina Lanzillotta, Emanuela Viggiano, Paola D Ambrosio, Filippo Cavallaro, Silvia Frosini, Andrea Barp, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Alessandra Graziano, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Eugenio Mercuri
Published in PLoS ONE (2014-01-01)Get full text
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Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy by Luca Bello, Pietro Riguzzi, Emilio Albamonte, Guja Astrea, Roberta Battini, Andrea Barp, Angela L. Berardinelli, Enrico S. Bertini, Noemi Brolatti, Claudio Bruno, Stefania Corti, Adele D’Amico, Maria Grazia D’Angelo, Gianfranco Dallavalle, Rocco Liguori, Lorenzo Maggi, Francesca Magri, Michelangelo Mancuso, Riccardo Masson, Eugenio Mercuri, Carlo Minetti, Sonia Messina, Tiziana Mongini, Olimpia Musumeci, Vincenzo Nigro, Marika Pane, Chiara Panicucci, Marina Pedemonte, Antonella Pini, Luisa Politano, Stefano Previtali, Federica Ricci, Giulia Ricci, Lucia Ruggiero, Valeria Sansone, Gabriele Siciliano, Antonio Trabacca, Federica Trucco, Daniele Velardo, Elena Pegoraro, Giacomo P. Comi
Published in Drugs in R&D (2025-05-01)Get full text
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Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. by Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
Published in PLoS ONE (2018-01-01)Get full text
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6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes. by Marika Pane, Elena S Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri
Published in PLoS ONE (2014-01-01)Get full text
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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients by Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group
Published in Clinical Epigenetics (2024-10-01)Get full text
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