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5
Akademický článek
POLR3B de novo variants are a rare cause of infantile myoclonic epilepsy.
Autor: De Dominicis A; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Stregapede F; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata', Rome, Italy., Colona VL; Movement Analysis and Robotics Laboratory (MARlab), Research Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Nicita F; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sartorelli J; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Sparascio FP; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy., Bertini ES; Research Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: enricosilvio.bertini@opbg.net., Trivisano M; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.
Publikováno v: Seizure [Seizure] 2024 Oct; Vol. 121, pp. 141-146. Date of Electronic Publication: 2024 Aug 17.
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6
Akademický článek
Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise.
Autor: Pane M; Paediatric Neurology, Catholic University, Rome, Italy.; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, Dep.t of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy., Russo E; Pfizer Italia Medical Affairs Director - Rare Disease, Italy., Gatto F; Pfizer Italia Medical Affairs Scientist - Rare Disease, Italy., Di Virgilio R; Pfizer Italia - HTA HEOR Lead, Italy., Spandonaro F; C.R.E.A. Sanità, University of Rome Tor Vergata, Rome, Italy., d'Angela D; C.R.E.A. Sanità, University of Rome Tor Vergata, Rome, Italy., Polistena B; C.R.E.A. Sanità, University of Rome Tor Vergata, Rome, Italy., d'Errico M; C.R.E.A. Sanità, University of Rome Tor Vergata, Rome, Italy.
Publikováno v: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology [Acta Myol] 2024 Sep; Vol. 43 (3), pp. 95-101.
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7
Akademický článek
The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.
Autor: Lavorgna L; Department of Advanced Medical and Surgical Sciences Napoli, University of Campania Luigi Vanvitelli, Napoli, Italy., Maida E; Department of Advanced Medical and Surgical Sciences Napoli, University of Campania Luigi Vanvitelli, Napoli, Italy., Reinhard C; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospitals Tubingen, Tubingen, Germany., Cras P; Department of Neurology, University Hospital Antwerp, Edegem, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, University Hospital Antwerp, Edegem, Belgium., Reetz K; Department of Neurology, RWTH Aachen University, Aachen, Germany.; Forschungszentrum Julich GmbH, JARA Institute Molecular Neuroscience and Neuroimaging, Julich, Germany., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Nonnekes J; Department of Rehabilitation, Sint Maartenskliniek, Nijmegen, The Netherlands., Medijainen K; Tartu University Hospital, Tartu, Estonai., Summa S; Department of Neurorehabilitation and Robotics, Movement Analysis and Robotics Laboratory (MARLab), Bambino Gesu Pediatric Hospital, Roma, Italy., Diserens K; Neurology, CHUV, Lausanne, Switzerland., Petrarca M; Department of Neurorehabilitation and Robotics, Movement Analysis and Robotics Laboratory (MARLab), Bambino Gesu Pediatric Hospital, Roma, Italy., Albanese A; Neurology, Istituto Clinico Humanitas, Rozzano, Italy., Leocani L; Institute of Experimental Neurology and Neurological Department, San Raffaele Hospital, Milano, Italy., Delussi M; Department of translational biomedicine and neuroscience 'DiBraiN', University of Bari Aldo Moro, Bari, Italy., Vinciguerra C; University Hospital 'San Giovanni di Dio e Ruggi d'Aragona', Salerno, Italy., Pagliano E; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Kubica J; Institute of Physiotherapy, Faculty of Health Science, Jagiellonian University Medical College, Krakow, Poland., Lallemant P; Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Sorbonne Université, Paris, France.; Pediatric Physical Medicine and Rehabilitation Department, Sorbonne Université, Paris, France., Wenning G; Department of Neurology and Neurosurgery, Medical University Innsbruck, Innsbruck, Austria., Sival D; Department of Pediatrics, University of Groningen, Beatrix Children's Hospital, Groningen, The Netherlands., Groleger Srsen K; Rehabilitation Institute of Republic Slovenia, University of Ljubljana, Ljubljana, Slovenia.; Medical faculty, University of Ljubljana, Ljubljana, Slovenia., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Lopane G; IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy., Boesch S; Department of Neurology and Neurosurgery, Center for rare movement disorders, Innsbruck Medical University, Innsbruck, Austria., Bonavita S; Department of Advanced Medical and Surgical Sciences Napoli, University of Campania Luigi Vanvitelli, Napoli, Italy., Crosiers D; Department of Neurology, University Hospital Antwerp, Edegem, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, University Hospital Antwerp, Edegem, Belgium., Muresanu D; Department of Neuroscience, Iuliu Hagieganu University of Medicine and Pharmacy Faculty of Medicine, Cluj Napoca, Romania.; RoNeuro Institute for Neurological Research and Diagnostic, Cluj-Napoca, Romania., Timmann D; Department of Neurology, Center for Translational Neuro, and Behavioral Sciences (C-TNBS), University Hospital Essen, Essen, Germnany., Federico A; Dept. Medicine, Surgery and Neurosciences, Siena University Hospital, Siena, Italy.
Publikováno v: Telemedicine journal and e-health : the official journal of the American Telemedicine Association [Telemed J E Health] 2024 Sep; Vol. 30 (9), pp. 2419-2430. Date of Electronic Publication: 2024 Jul 01.
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8
Akademický článek
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Autor: Berti B; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy., Verrigni D; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Nasca A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Di Nottia M; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy., Leone D; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy., Torraco A; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy., Rizza T; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy., Bellacchio E; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Legati A; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Palermo C; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy., Marchet S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy., Novelli A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Mercuri EM; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy., Bertini ES; Neuromuscular Disorders Research Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy., Pane M; Centro Clinico Nemo and Pediatric Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo Agostino Gemelli, 8, 00168 Rome, Italy.; Pediatric Neurology Unit, Università Cattolica del Sacro Cuore, Largo Francesco Vito, 1, 00168 Rome, Italy., Ghezzi D; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy., Carrozzo R; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, Bambino Gesù Children's Hospital IRCCS, 00146 Rome, Italy.
Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 16; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 16.
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Akademický článek
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Autor: Kalm T; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Schob C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Völler H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Klabunde-Cherwon A; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Ries M; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Beccaria F; Epilepsy Center, Department of Child Neuropsychiatry, Territorial Social-Health Agency, 46100 Mantova, Italy., Madia F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Scala M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy., Hofstede F; Department of General Pediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, the Netherlands., Simon MEH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Jaarsveld RH; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Oegema R; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., van Gassen KLI; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Holwerda SJB; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3000 CA, the Netherlands., Álvarez S; Genomics and Medicine, NIMGenetics, 28108 Madrid, Spain., Fernández-Jaén A; Pediatric Neurology Department, Quironsalud University Hospital Madrid, School of Medicine, European University of Madrid, 28224 Madrid, Spain., Porta J; Genomics, Genologica Medica, 29016 Málaga, Spain., Accogli A; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Department of Human Genetics, McGill University, QC H4A 3J1 Montreal, Canada., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16145 Genoa, Italy; Pediatric Neurology and Neuromuscular Diseases Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Jang S; Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-744, Republic of Korea., Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Hospital, Seoul 03080, Republic of Korea., Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto ON M5G 1E2 Toronto, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, M5G 1X8 Toronto, Canada; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, AB T6G 2H7 Edmonton, Canada., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kampmeier A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Surowy H; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, 45122 Essen, Germany., Bertini ES; Neuromuscular Disorders, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Pizzi S; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy., Gauthier L; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Genevieve D; Montpellier University, Inserm U1183, Montpellier, France; Department of Clinical Genetics, University Hospital of Montpellier, 34295 Montpellier, France., Tharreau M; Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, University Hospital of Montpellier, 34295 Montpellier, France., Azoulay N; The Genetic Institute of Maccabi Health Services, Rehovot 7610000, Israel; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel., Zaks-Hoffer G; Raphael Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petach Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel., Gilad NK; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Orenstein N; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 69978, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah Tikvah 4920235, Israel., Bernard G; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre, QC H4A 3J1 Montreal, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Canada., Thiffault I; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Bähring R; Institute for Cellular and Integrative Physiology, Center for Experimental Medicine, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: r.baehring@uke.uni-hamburg.de., Kindler S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany. Electronic address: kindler@uke.de.
Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1206-1221. Date of Electronic Publication: 2024 May 20.
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Akademický článek
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Autor: Trucco F; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Ridout D; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Weststrate H; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Scoto M; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Rohwer A; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Coratti G; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Main ML; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Mayhew AG; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Montes J; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., De Sanctis R; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Pane M; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Pera MC; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Sansone VA; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Albamonte E; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., D'Amico A; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Bruno C; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Messina SS; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Childs AM; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Willis T; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Ong MT; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Servais L; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Majumdar A; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Hughes I; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Marini-Bettolo C; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Parasuraman D; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Gowda VL; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Baranello G; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Bertini ES; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., De Vivo DC; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Darras BT; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Day JW; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Mayer O; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Zolkipli-Cunningham Z; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Finkel RS; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Mercuri E; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom., Muntoni F; Dubowitz Neuromuscular Centre (FT, HW, MS, AR, MLM, GB, FM), UCL Institute of Child Health & Great Ormond Street Hospital, London; Department Paediatric Neuroscience Evelina London Children's Hospital and Department Paediatric Respiratory Medicine (FT), Royal Brompton Hospital, Guy's and St Thomas NHS Trust London, United Kingdom; Pediatric Neurology and Muscular Diseases Unit (FT), IRCCS Istituto Giannina Gaslini, Genova and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Italy; Population (DR), Policy and Practice Programme, UCL GOS Institute of Child Health, London; Paediatric Neurology (GC, RDS, MP, MCP, EM), Università Cattolica del Sacro Cuore; Centro Clinico Nemo (GC, RDS, MP, MCP, EM), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy; Newcastle University and Newcastle Hospitals NHS Foundation Trust (AGM, CM-B), Newcastle Upon Tyne, United Kingdom; Department of Rehabilitation and Regenerative Medicine (JM), Columbia University Irving Medical Center, New York; Neurorehabilitation Unit (VAS, EA), University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital; Unit of Neuromuscular and Neurodegenerative Disorders (ADA, ESB), Bambino Gesù Children's Hospital IRCCS, Rome; Center of Experimental and Translational Myology (CB), IRCCS Istituto Giannina Gaslini, Genoa and Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud (SSM), University of Messina, Italy; Leeds Children Hospital (A-MC); The Robert Jones and Agnes Hunt Orthopaedic Hospital (TW), Oswestry; Sheffield Children's Hospital (MTO, LS); MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre (LS), University of Oxford, United Kingdom; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Belgium; Royal Hospital for Children (AM), Bristol; Royal Manchester Children's Hospital (IH); University Hospitals Birmingham (DP), United Kingdom; Evelina London Children's Hospital (VLG), London, UK; Departments of Neurology and Pediatrics (DCDV), Columbia University Irving Medical Center, New York; Department of Neurology (BTD), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Neurology (JWD), Stanford University, Palo Alto, CA; Department of Paediatrics The Children's Hospital of Philadelphia (OM, ZZ-C), Philadelphia, PA; Nemours Children's Hospital (RSF), University of Central Florida College of Medicine, Orlando; St. Jude Children's Research Hospital (RSF), Memphis, TN; and NIHR Great Ormond Street Hospital Biomedical Research Centre (FM), London, United Kingdom.
Publikováno v: Neurology. Clinical practice [Neurol Clin Pract] 2024 Jun; Vol. 14 (3), pp. e200298. Date of Electronic Publication: 2024 May 17.
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