○Kayoko Saito1, Day John W2, Deconinck Nicolas3, Mazzone Elena S4, Nascimento Andres5, Oskoui Maryam6, Vuillerot Carole7, Braid Jessica8, Gerber Marianne9, Gorni Ksenija8, Martin Carmen8, Scalco Renata S9, Yeung Wai Yin8, Mercuri Eugenio4
(1.Institute of Medical Genetics, Tokyo Women's Medical University, Japan, 2.Department of Neurology, Stanford University, Palo Alto, CA, USA, 3.Neuromuscular Reference Center, UZ Gent, Ghent, Belgium, 4.Pediatric Neurology Institute, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome, Italy, 5.Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Deu, Fundacion Sant Joan de Deu, CIBERER - ISC III, Barcelona, Spain, 6.Departments of Pediatrics and Neurology Neurosurgery, McGill University, Montreal, Canada, 7.Department of Pediatric Physical Medicine and Rehabilitation, Hopital Mere Enfant, CHU-Lyon, Lyon, France, 8.Roche Products Ltd, Welwyn Garden City, UK, 9.F. Hoffmann-La Roche Ltd, Basel, Switzerland)
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