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
Published 2019-02-01

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

by Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Published 2019-01-01

Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

by Claudia Brogna, Giorgia Coratt, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group
Published 2019-01-01

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

by Giulia Ricci, Fabiano Mele, Monica Govi, Lucia Ruggiero, Francesco Sera, Liliana Vercelli, Cinzia Bettio, Lucio Santoro, Tiziana Mongini, Luisa Villa, Maurizio Moggio, Massimiliano Filosto, Marina Scarlato, Stefano C. Previtali, Silvia Maria Tripodi, Elena Pegoraro, Roberta Telese, Antonio Di Muzio, Carmelo Rodolico, Elisabetta Bucci, Giovanni Antonini, Maria Grazia D’Angelo, Angela Berardinelli, Lorenzo Maggi, Rachele Piras, Maria Antonietta Maioli, Gabriele Siciliano, Giuliano Tomelleri, Corrado Angelini, Rossella Tupler
Published 2020-12-01

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

by Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi
Published 2020-07-01

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

by Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan De Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Pietro Comi, Filippo Maria Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro
Published 2018-10-01

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

by Ana Nikolic, Takako I Jones, Monica Govi, Fabiano Mele, Louise Maranda, Francesco Sera, Giulia Ricci, Lucia Ruggiero, Liliana Vercelli, Simona Portaro, Luisa Villa, Chiara Fiorillo, Lorenzo Maggi, Lucio Santoro, Giovanni Antonini, Massimiliano Filosto, Maurizio Moggio, Corrado Angelini, Elena Pegoraro, Angela Berardinelli, Maria Antonetta Maioli, Grazia D’Angelo, Antonino Di Muzio, Gabriele Siciliano, Giuliano Tomelleri, Maurizio D’Esposito, Floriana Della Ragione, Arianna Brancaccio, Rachele Piras, Carmelo Rodolico, Tiziana Mongini, Frederique Magdinier, Valentina Salsi, Peter L. Jones, Rossella Tupler
Published 2020-04-01

North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

by Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, on behalf on the International DMD Group and the iMDEX Consortium
Published 2021-01-01

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 2013-01-01

Correction: 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 2013-01-01

Correction: 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 2013-01-01

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 2014-01-01

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 2018-01-01

Correction: 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 2015-01-01

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

by Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D'Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Maria Grazia D'Angelo, Enrico Bertini, Eugenio Mercuri
Published 2016-01-01

Genetic modifiers of respiratory function in Duchenne muscular dystrophy

by Luca Bello, Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, Sandra Gandossini, Francesca Magri, Giacomo P. Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D’Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria A. Sansone, Stefano Previtali, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P. Hoffman, Lauren Morgenroth, Heather Gordish‐Dressman, Craig M. McDonald, CINRG‐DNHS Investigators, Elena Pegoraro
Published 2020-05-01

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 2014-01-01

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

by Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Eugenio Mercuri, Alessandra Ferlini, Alessandra Ferlini
Published 2020-03-01

A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial

by Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri
Published 2018-05-01