About the Authors

Marika Pane

Contributed equally to this work with: Marika Pane, Elena Stacy Mazzone, Serena Sivo

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Elena Stacy Mazzone

Contributed equally to this work with: Marika Pane, Elena Stacy Mazzone, Serena Sivo

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Serena Sivo

Contributed equally to this work with: Marika Pane, Elena Stacy Mazzone, Serena Sivo

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Maria Pia Sormani

Affiliation Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy

Sonia Messina

Affiliation Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

Adele D′Amico

Affiliation Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy

Adelina Carlesi

Affiliation Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy

Gianluca Vita

Affiliation Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

Lavinia Fanelli

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Angela Berardinelli

Affiliation Child Neurology and Psychiatry Unit, “Casimiro Mondino” Foundation, Pavia, Italy

Yvan Torrente

Affiliation Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

Valentina Lanzillotta

Affiliation Neuromuscular Disease Unit, Giannina Gaslini Institute, Genoa, Italy

Emanuela Viggiano

Affiliation Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy

Paola D′Ambrosio

Affiliation Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy

Filippo Cavallaro

Affiliation Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

Silvia Frosini

Affiliation Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy

Andrea Barp

Affiliation Department of Neurosciences, University of Padua, Padua, Italy

Serena Bonfiglio

Affiliation Child Neurology and Psychiatry Unit, Maggiore Hospital, Bologna, Italy

Roberta Scalise

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Roberto De Sanctis

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Enrica Rolle

Affiliation Neuromuscular Center, San Giovanni Battista Hospital, University of Turin, Turin, Italy

Alessandra Graziano

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Francesca Magri

Affiliation Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

Concetta Palermo

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Francesca Rossi

Affiliation Developmental Neurology Unit, Neurological Institute Carlo Besta, Milan, Italy

Maria Alice Donati

Affiliation Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy

Michele Sacchini

Affiliation Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy

Maria Teresa Arnoldi

Affiliation Developmental Neurology Unit, Neurological Institute Carlo Besta, Milan, Italy

Giovanni Baranello

Affiliation Developmental Neurology Unit, Neurological Institute Carlo Besta, Milan, Italy

Tiziana Mongini

Affiliation Neuromuscular Center, San Giovanni Battista Hospital, University of Turin, Turin, Italy

Antonella Pini

Affiliation Child Neurology and Psychiatry Unit, Maggiore Hospital, Bologna, Italy

Roberta Battini

Affiliation Department of Developmental Neuroscience, Stella Maris Institute, Pisa, Italy

Elena Pegoraro

Affiliation Department of Neurosciences, University of Padua, Padua, Italy

Stefano Previtali

Affiliation Department of Neurology, San Raffaele Scientific Institute, Milan, Italy

Claudio Bruno

Affiliation Neuromuscular Disease Unit, Giannina Gaslini Institute, Genoa, Italy

Luisa Politano

Affiliation Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Napoli, Italy

Giacomo P. Comi

Affiliation Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Neurology Unit, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

Enrico Bertini

Affiliation Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, Rome, Italy

Eugenio Mercuri

mercuri@rm.unicatt.it

Affiliation Department of Paediatric Neurology, Catholic University, Rome, Italy

Competing Interests

Dr. Pane, Dr. Sivo and E. Mazzone report no disclosures. Dr. Sormani: serves on a scientific advisory board for Biogen Idec.; has received funding for travel or speaker honoraria from Merck Serono; serves as consultant for Merck Serono, Actelion Pharmaceuticals Lts. Biogen Idec, and Synthon; and serves on the speakers' bureaus of Teva Pharmaceutical Industries Ltd., Merck Serono, and Biogen Idec. Dr. D'Amico and Dr. Messina report no disclosures. Dr. Vita serves as an Associate Editor for Neurological Sciences. L. Fanelli, Dr. Berardinelli, Dr. Torrente, V. Lanzillotta, Dr. Viggiano, Dr. D'Ambrosio, F. Cavallaro, S. Frosini, Dr. Barp, Dr. Bonfiglio, Dr. Scalise, R. De Sanctis, E. Rolle, Dr. Graziano, Dr. Magri, Dr. Palermo, F. Rossi, Dr. Donati, Dr. Sacchini, Dr. Arnoldi, Dr. Baranello report no disclosures. Dr. Mongini has served on a scientific advisory board for Telethon Italy; has received funding for travel from Genzyme Corporation; and has received research support from AIFA (Italian Government Drug Agency) and Telethon Italy. Dr. Pini, Dr. Battini report no disclosures. Dr. Pegoraro has served on a scientific advisory board for BioMarin Pharmaceutical Inc.; has received funding for travel from Genzyme Corporation; and has received speaker honoraria from MedaPharma; and receives research support from Wellstone and Telethon Italy. Dr. Previtali, Dr. Bruno, Dr. Politano report no disclosures. Dr. Comi: is site PI for the PTC extension study of Ataluren in DMD, for the GSK study on exon skipping; receives research support from Telethon Italy and SMA Europe. Dr. Bertini is site PI for the PTC extension study of Ataluren in DMD, for the GSK study on exon skipping. He also receives funds from the Italian Telethon, the Italian Ministry of Health and SMA Europe for observational studies on outcome measures. Dr. Mercuri is site PI for the PTC extension study of Ataluren in DMD, for the GSK Prosensa and Sarepta studies on exon skipping. He also receives funds from the Italian Telethon and SMA Europe. He has acted as advisory board for Acceleron Pharma, Shire and PTC Therapeutics, Inc, Prosensa. The disclosures shown in the paper do not alter the authors' adherence to PLOS ONE policies on sharing data and materials.

Author Contributions

Conceived and designed the experiments: MP ESM SS LF RDS EM. Performed the experiments: SM LF RDS VL FC ER SF MTA FR. Analyzed the data: MP ESM SS MPS SM AD AC GV AB YT VL EV PD FC SF AB SB CP RS RDS ER AG FM MAD MS MTA FR GB TM AP RB EP SP CB LP GPC EB EM. Wrote the paper: MP ESM SS MPS SM AD AC GV LF AB YT VL EV PD FC SF AB SB CP RS RDS ER AG FM MAD MS MTA FR GB TM AP RB EP SP CB LP GPC EB EM.