부산대학교 도서관

Zlatic SA; Departments of Cell Biology, Emory University, Atlanta, GA 30322, USA.; Duong D; Departments of Biochemistry, Emory University, Atlanta, GA 30322, USA.; Gadalla KKE; Simons Initiative for the Developing Brain, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK.; Murage B; Simons Initiative for the Developing Brain, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK.; Ping L; Departments of Biochemistry, Emory University, Atlanta, GA 30322, USA.; Shah R; The Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, King's Buildings, Max Born Crescent, Edinburgh EH9 3BF, UK.; Fink JJ; Q-State Biosciences, Cambridge, MA 02139, USA.; Khwaja O; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Swanson LC; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Sahin M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Rayaprolu S; Departments of Neurology, Emory University, Atlanta, GA 30322, USA.; Kumar P; Departments of Neurology, Emory University, Atlanta, GA 30322, USA.; Rangaraju S; Departments of Neurology, Emory University, Atlanta, GA 30322, USA.; Bird A; The Wellcome Centre for Cell Biology, University of Edinburgh, Michael Swann Building, King's Buildings, Max Born Crescent, Edinburgh EH9 3BF, UK.; Tarquinio D; Center for Rare Neurological Diseases, Norcross, GA 30093, USA.; Carpenter R; Rett Syndrome Research Trust, Trumbull, CT 06611, USA.; Cobb S; Simons Initiative for the Developing Brain, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh EH8 9XD, UK.; Faundez V; Departments of Cell Biology, Emory University, Atlanta, GA 30322, USA.

Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE

Goeldner C; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland. celia.goeldner@roche.com.; Kishnani PS; Duke Clinical Research Institute, Durham, NC, 27710, USA.; Skotko BG; Down Syndrome Program, Division of Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Medical Genetics, Boston, MA, 02114, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Casero JL; Hospital Infantil Universitario Niño Jesus, Pediatria Social, 28009, Madrid, Spain.; Hipp JF; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Derks M; Pharmaceutical Sciences, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Welwyn, Welwyn Garden City, UK.; Hernandez MC; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Khwaja O; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Current affiliation: VectivBio AG, Basel, Switzerland.; Lennon-Chrimes S; Pharmaceutical Sciences, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Welwyn, Welwyn Garden City, UK.; Noeldeke J; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Pellicer S; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Squassante L; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Visootsak J; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center New York, New York, USA.; Current affiliation: Novartis Gene Therapies, New York, USA.; Wandel C; Pharmaceutical Sciences, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Fontoura P; Roche Neuroscience Product Development, Basel, Switzerland.; d'Ardhuy XL; Neuroscience and Rare Diseases Discovery and Translational Area, Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, Grenzacherstrasse 124, 4070, Basel, Switzerland.; Current affiliation: Loulou Foundation, London, UK.

Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Mercuri E; Paediatric Neurology and Nemo Center, Catholic University and Policlinico Gemelli, Rome, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it.; Deconinck N; Neuromuscular Reference Center, UZ Gent, Ghent, Belgium; Neuromuscular Reference Center and Paediatric Neurology, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels, Belgium.; Mazzone ES; Paediatric Neurology and Nemo Center, Catholic University and Policlinico Gemelli, Rome, Italy.; Nascimento A; Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Déu, CIBERER - ISC III, Barcelona, Spain.; Oskoui M; Department of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Saito K; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.; Vuillerot C; Service de Rééducation Pédiatrique Infantile 'L'Escale', Hôpital Femme Mère Enfant, CHU-Lyon, Bron, France; Neuromyogen Institute, CNRS UMR 5310 - INSERM U1217 Université de Lyon, Lyon, France.; Baranello G; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, Great Ormond Street NHS Trust, London, UK; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Boespflug-Tanguy O; I-Motion, Institut de Myologie, APHP, Hôpital Armand Trousseau, Paris, France; NeuroDiderot, UMR 1141, Université de Paris, Paris, France.; Goemans N; Neuromuscular Reference Centre, Department of Paediatrics and Child Neurology, University Hospitals Leuven, Leuven, Belgium.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Freiburg, Germany; Division of Neuropediatrics, Faculty of Medicine, University Hospital Bonn, Bonn, Germany.; Kostera-Pruszczyk A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Servais L; I-Motion, Institut de Myologie, APHP, Hôpital Armand Trousseau, Paris, France; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK; Reference Center for Neuromuscular Disease, Centre Hospitalier Régional de La Citadelle, Liège, Belgium.; Gerber M; F Hoffmann-La Roche, Basel, Switzerland.; Gorni K; F Hoffmann-La Roche, Basel, Switzerland.; Khwaja O; F Hoffmann-La Roche, Basel, Switzerland; Voyager Therapeutics, Cambridge, MA, USA.; Kletzl H; F Hoffmann-La Roche, Basel, Switzerland.; Scalco RS; F Hoffmann-La Roche, Basel, Switzerland.; Staunton H; Roche Products, Welwyn Garden City, UK.; Yeung WY; Roche Products, Welwyn Garden City, UK.; Martin C; Roche Products, Welwyn Garden City, UK.; Fontoura P; F Hoffmann-La Roche, Basel, Switzerland.; Day JW; Department of Neurology, Stanford University, Palo Alto, CA, USA.

Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Lane JB; Lee HS; Smith LW; Cheng P; Percy AK; Glaze DG; Neul JL; Motil KJ; Barrish JO; Skinner SA; Annese F; McNair L; Graham J; Khwaja O; Barnes K; Krischer JP; Lane, J B; Lee, H-S; Smith, L W; Cheng, P

Neurology; 11/15/2011, Vol. 77 Issue 20, p1812-1818, 7p

Darras BT; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Masson R; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Mazurkiewicz-Bełdzińska M; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Rose K; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Xiong H; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Zanoteli E; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Baranello G; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Bruno C; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Vlodavets D; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Wang Y; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; El-Khairi M; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Gerber M; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Gorni K; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Khwaja O; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Kletzl H; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Scalco RS; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Fontoura P; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).; Servais L; From the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (R.M., G.B.), and the Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa (C.B.) - both in Italy; the Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland (M.M.-B.); the Paediatric Gait Analysis Service of New South Wales, the Children's Hospital at Westmead and the University of Sydney, Sydney (K.R.); the Department of Pediatrics, Peking University First Hospital, Beijing (H.X.), and Children's Hospital of Fudan University, Shanghai (Y.W.) - both in China; the Department of Neurology, Faculdade de Medicina, Universidade de São Paulo, São Paulo (E.Z.); the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, the Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; Russian Children Neuromuscular Center, Veltischev Clinical Pediatric Research Institute, Pirogov Russian National Research Medical University, Moscow (D.V.); Pharma Development, Safety (M.G.), Product Development Medical Affairs - Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K.) - both in Basel, Switzerland; the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, the Department of Pediatrics, University Hospital Liege, University of Liege, Liege, Belgium (L.S.); and I-Motion, Institut de Myologie, Assistance Publique Hôpitaux de Paris, Hôpital Armand Trousseau, Paris (L.S.).

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Taher AT; Department of Internal Medicine, Division of Hematology and Oncology, American University of Beirut Medical Center, Beirut, Lebanon.; Viprakasit V; Department of Pediatrics and Siriraj Thalassemia Center, Division of Hematology and Oncology, Mahidol University, Bangkok, Thailand.; Cappellini MD; Department of Medicine, Ca'Granda Foundation IRCCS, University of Milan, Milan, Italy.; Kraus D; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Cech P; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Volz D; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Winter E; Roche Pharma Research and Early Development, Roche Innovation Center New York, New York, NY, USA.; Nave S; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Dukart J; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Institute of Neuroscience and Medicine, Brain & Behaviour (INM-7), Research Centre Jülich, Jülich, Germany.; Institute of Systems Neuroscience, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Khwaja O; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Koerner A; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Hermosilla R; Roche Pharma Research and Early Development, Roche Innovation Center Basel, Basel, Switzerland.; Brugnara C; Department of Laboratory Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Harvard Medical School, Boston, MA, USA.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2141 (Electronic) Linking ISSN: 00071048 NLM ISO Abbreviation: Br J Haematol Subsets: MEDLINE

Baranello G; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Darras BT; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Day JW; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Deconinck N; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Klein A; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Masson R; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Mercuri E; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Rose K; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; El-Khairi M; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Gerber M; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Gorni K; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Khwaja O; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Kletzl H; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Scalco RS; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Seabrook T; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Fontoura P; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).; Servais L; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Del Valle Rubido M; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland. marta.del_valle_rubido@roche.com.; Hollander E; Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine and Montefiore Medicine, Bronx, NY, USA.; McCracken JT; Psychiatry and Behavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Shic F; Center for Child Health, Behavior and Development, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Noeldeke J; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland.; Roche Global Product Strategy Neuroscience, Basel, Switzerland.; Boak L; Roche Product Development Neuroscience, Basel, Switzerland.; Khwaja O; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland.; Sadikhov S; Roche Product Development Neuroscience, Basel, Switzerland.; Fontoura P; Roche Product Development Neuroscience, Basel, Switzerland.; Umbricht D; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland.

Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Del Valle Rubido M; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland. marta.del_valle_rubido@roche.com.; Hollander E; Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine and Montefiore Medicine, Bronx, NY, USA.; McCracken JT; Psychiatry and Behavioral Sciences, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Shic F; Center for Child Health, Behavior and Development, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Noeldeke J; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland.; Roche Global Product Strategy Neuroscience, Basel, Switzerland.; Boak L; Roche Product Development Neuroscience, Basel, Switzerland.; Khwaja O; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland.; Sadikhov S; Roche Product Development Neuroscience, Basel, Switzerland.; Fontoura P; Roche Product Development Neuroscience, Basel, Switzerland.; Umbricht D; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development, NRD, Basel, Switzerland.

Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: PubMed not MEDLINE; MEDLINE

Demarest S; Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado.; Pestana-Knight EM; Cleveland Clinic, Neurological Institute Cleveland, Ohio; Epilepsy Center, Cleveland, Ohio.; Olson HE; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital Boston, Massachusetts.; Downs J; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.; Kaufmann WE; M.I.N.D. Institute, Department of Neurology, University of California Davis Health System, Sacramento, California; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.; Partridge CA; CDKL5 UK, Somerset, UK.; Leonard H; School of Physiotherapy and Exercise Science, Curtin University, Perth, Western Australia, Australia.; Gwadry-Sridhar F; Department of Computer Science, University of Western Ontario and Pulse Infoframe, London, Ontario, Canada.; Frame KE; CDKL5 Research Collaborative, Dexter, Michigan.; Cross JH; UCL Great Ormond Street Institute of Child Health & NIHR GOSH BRC, London, UK.; Chin RFM; University of Edinburgh and Royal Hospital for Sick Children, Edinburgh, UK.; Parikh S; Epilepsy Center, Cleveland, Ohio.; Panzer A; DRK Westend Clinic Berlin, Berlin, Germany.; Weisenberg J; Neurology, Division of Pediatric Neurology, Epilepsy Section, Washington University School of Medicine, St. Louis Children's Hospital, St Louis, Missouri.; Utley K; International Foundation for CDKL5 Research, Wadwsorth, Ohio.; Jaksha A; International Foundation for CDKL5 Research, Wadwsorth, Ohio.; Amin S; University of Bristol, UK.; Khwaja O; Roche Innovation Center Basel, Roche Pharmaceutical Research and Early Development NORD, Basel, Switzerland.; Devinsky O; Department of Neurology, New York University, New York, New York.; Neul JL; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Tennessee.; Percy AK; University of Alabama at Birmingham, Pediatrics, Neurology, Neurobiology, Genetics, and Psychology, Birmingham, Alabama.; Benke TA; Children's Hospital Colorado and University of Colorado School of Medicine Aurora, Colorado; Department of Pediatrics, Aurora, Colorado; Department of Pharmacology, Aurora, Colorado; Department of Neurology, Aurora, Colorado; Department of Otolaryngology, Aurora, Colorado. Electronic address: tim.benke@ucdenver.edu.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE