About the Authors

Monika Hiller

Roles Formal analysis, Investigation, Methodology, Resources, Visualization, Writing – original draft, Writing – review & editing

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Maria Sofia Falzarano

Roles Formal analysis, Investigation, Methodology, Writing – review & editing

Affiliation UOL of Medical Genetics, University of Ferrara, Ferrara, Italy

Iker Garcia-Jimenez

Roles Formal analysis, Investigation, Writing – review & editing

Affiliation Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain

Valentina Sardone

Roles Formal analysis, Investigation, Methodology, Writing – review & editing

Affiliation Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, United Kingdom

Ruurd C. Verheul

Roles Formal analysis, Methodology, Writing – review & editing

Affiliation BioMarin Nederland B.V., Leiden, The Netherlands

Linda Popplewell

Roles Formal analysis, Investigation, Methodology, Writing – review & editing

Affiliation Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway University of London, London, United Kingdom

Karen Anthony

Roles Formal analysis, Investigation, Methodology, Writing – review & editing

Affiliations Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, United Kingdom, Faculty of Health and Society, University of Northampton, Northampton, United Kingdom

Estibaliz Ruiz-Del-Yerro

Roles Formal analysis, Writing – review & editing

Affiliation Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain

Hana Osman

Roles Formal analysis, Investigation, Methodology, Writing – review & editing

Affiliation UOL of Medical Genetics, University of Ferrara, Ferrara, Italy

Jelle J. Goeman

Roles Formal analysis, Validation, Visualization, Writing – review & editing

Affiliation Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands

Kamel Mamchaoui

Roles Resources, Writing – review & editing

Affiliation INSERM, Institute of Myology, Center of Research in Myology, Sorbonne Universities, UPMC Univ Paris 6, Paris, France

George Dickson

Roles Project administration, Writing – review & editing

Affiliation Centre of Biomedical Sciences, School of Biological Sciences, Royal Holloway University of London, London, United Kingdom

Alessandra Ferlini

Roles Conceptualization, Project administration, Writing – review & editing

Affiliation UOL of Medical Genetics, University of Ferrara, Ferrara, Italy

Francesco Muntoni

Roles Conceptualization, Project administration, Writing – review & editing

Affiliations Dubowitz Neuromuscular Centre, University College London Great Ormond Street Institute of Child Health, London, United Kingdom, MRC Centre for Neuromuscular Diseases, University College London Great Ormond Street Institute of Child Health, London, United Kingdom

Annemieke Aartsma-Rus

Roles Conceptualization, Project administration, Resources, Supervision, Writing – review & editing

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Virginia Arechavala-Gomeza

Roles Conceptualization, Formal analysis, Investigation, Methodology, Project administration, Resources, Writing – review & editing

Affiliation Neuromuscular Disorders Group, Biocruces Bizkaia Health Research Institute, Barakaldo, Spain

Nicole A. Datson

Roles Investigation, Project administration, Writing – review & editing

Affiliation BioMarin Nederland B.V., Leiden, The Netherlands

Pietro Spitali

Roles Conceptualization, Investigation, Project administration, Supervision, Writing – original draft, Writing – review & editing

p.spitali@lumc.nl

Affiliation Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands

Competing Interests

ERDY, HO, IGJ, JJG, KA, KM, MH, MSF, PS, VAG and VS report no disclosures. AAR discloses being employed by LUMC which has patents on exon skipping technology. As coinventor of some of these patents AAR is entitled to a share of royalties. AAR further discloses being ad hoc consultant for PTC Therapeutics, BioMarin Pharmaceuticals Inc., Global Guidepoint and GLG consultancy, Grunenthal, Wave and BioClinica, having been a member of the Duchenne Network Steering Committee (BioMarin) and being a member of the scientific advisory boards of ProQR and Philae Pharmaceuticals. Remuneration for these activities is paid to LUMC. LUMC also received speaker honoraria from PTC Therapeutics and BioMarin Pharmaceuticals. AF is principal investigator of past (BioMarin Nederland BV) and ongoing (Sarepta Therapeutics) clinical trials. FM has served on scientific advisory boards for Acceleron Pharma, Genzyme, AVI BioPharma, Debiopharma Group, GlaxoSmithKline, Prosensa, Servier, Summit and Santhera Pharmaceutical, receives research support from Trophos, and GlaxoSmithKline, and has received funding for trials from AVI, PTC and Sarepta Therapeutics. Cover Letter LP and GD are co-inventors on exon skipping technology patents owned by RHUL, and have received research support from Sarepta Therapeutics, Shire Pharmaceuticals Ltd, Benitec Biopharma Ltd and UCB Pharma. RCV and NAD are employees of BioMarin Nederland BV, a company providing innovative therapeutics to patients with serious unmet medical needs. BioMarin has several patents on exon skipping technology. BioMarin did not contribute to the funding of this study, other than the salaries and lab consumables for the work performed by RCV and NAD. This does not alter our adherence to PLOS ONE policies on sharing data and materials.