About the Authors

Elena Stacy Mazzone

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

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

Marika Pane

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

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

Maria Pia Sormani

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

Roberta Scalise

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

Angela Berardinelli

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

Sonia Messina

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

Yvan Torrente

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

Adele D’Amico

Affiliation Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy

Luca Doglio

Affiliation Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy

Emanuela Viggiano

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

Paola D’Ambrosio

Affiliation Dipartimento di Medicina Sperimentale, Seconda Università di Napoli, Naples 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, University of Pisa, Pisa, Italy

Luca Bello

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

Serena Bonfiglio

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

Roberto De Sanctis

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

Enrica Rolle

Affiliation Neuromuscular Center, SG. Battista Hospital, University of Turin, Turin, Italy

Flaviana Bianco

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

Francesca Magri

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

Francesca Rossi

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

Gessica Vasco

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

GianLuca Vita

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

Maria Chiara Motta

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

Maria Alice Donati

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

Michele Sacchini

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

Tiziana Mongini

Affiliation Neuromuscular Center, SG. 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, University of Pisa, 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

Sara Napolitano

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

Claudio Bruno

Affiliation Neuromuscular Disease Unit, G. Gaslini Institute, Genoa, Italy

Luisa Politano

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

Giacomo Pietro Comi

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

Enrico Bertini

Affiliation Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy

Eugenio Mercuri

mercuri@rm.unicatt.it

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

Competing Interests

E. Mazzone and Dr. Pane 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. Scalise, Dr. Berardinelli, Dr Messina, Dr. Torrente, Dr. D’Amico, Dr. Doglio, Dr. Viggiano, Dr. D’Ambrosio, F. Cavallaro, S. Frosini, Dr. Bello, Dr. Bonfiglio, R. De Sanctis, E. Rolle, Dr. Bianco, Dr. Magri, F. Rossi, and Dr. Vasco report no disclosures. Dr. Vita serves as an Associate Editor for Neurological Sciences. M.C. Motta, Dr. Donati and Dr. Sacchini report no disclosures. Dr. Mongini has received funding for travel from Genzyme Corporation; and has received research support from AIFA (Italian Government Drug Agency) and Telethon Italy. Dr. Pini and 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 and Dr. Politano report no disclosures. Dr. Comi is site PI for the PTC extension study of Ataluren in DMD, for the TROPHOS clinical trial on SMA and 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 TROPHOS clinical trial on SMA and 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 TROPHOS clinical trial on SMA and for the GSK study on exon skipping. He also receives funds from the Italian Telethon and SMA Europe. He has acted as advisory board for Shire and PTC Therapeutics, Inc, Prosensa. This does not alter the authors’ adherence to all the PLOS ONE policies on sharing data and materials.

Author Contributions

Conceived and designed the experiments: EM MP CB EB EM AD SM FB EP. Performed the experiments: EM LD FC RD SF FC LB PDA EV MS MCM GLV FR ER SB SN. Analyzed the data: EM MP MPS RS SM EM AB YT CB GC FM SP LP RB AP AD EP GV. Contributed reagents/materials/analysis tools: EM LD FC RD SF FC GV TM MAD. Wrote the paper: EM MP EB EM.