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In: Anaesthesia. (Anaesthesia, November 2024, 79(11):1165-1179)

Jones, Hannah F; Bryen, Samantha J; Waddell, Leigh B; Bournazos, Adam; Davis, Mark; Farrar, Michelle A; McLean, Catriona A; Mowat, David R; Sampaio, Hugo; Woodcock, Ian R; Ryan, Monique M; Jones, Kristi J; Cooper, Sandra T

Neuromuscular Disorders. 29(12):913-919

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Oates EC; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, New South Wales, Australia.; Jones KJ; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Charlton A; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Department of Histopathology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Brammah S; Electron Microscope Unit, Department of Anatomical Pathology, Concord Repatriation General Hospital, Concord, Sydney, New South Wales, Australia.; Smith JE 3rd; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ.; Ware JS; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom.; Yau KS; Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Swanson LC; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Whiffin N; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London, United Kingdom.; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom.; Peduto AJ; Department of Radiology, Westmead Hospital, Sydney, New South Wales, Australia.; University of Sydney Western Clinical School, Sydney, New South Wales, Australia.; Bournazos A; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Waddell LB; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Farrar MA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.; Sampaio HA; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.; Teoh HL; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.; Lamont PJ; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.; Mowat D; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.; Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Fitzsimons RB; Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.; Corbett AJ; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.; Ryan MM; Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; University of Melbourne, Parkville, Victoria, Australia.; O'Grady GL; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand.; Sandaradura SA; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Ghaoui R; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Joshi H; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Marshall JL; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA.; Nolan MA; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand.; Kaur S; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Punetha J; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC.; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC.; Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Harris E; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.; Genetti CA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Marttila M; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Werlauff U; Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.; Streichenberger N; Neuropathology Department, Hospices Civils Lyon, Claude Bernard University, Lyon1, France.; NeuroMyogene Institute, CNRS UMR 5310, INSERM U1217, Lyon, France.; Pestronk A; Department of Neurology, Washington University School of Medicine, Saint Louis, MO.; Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO.; Mazanti I; Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Pinner JR; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, Sydney, New South Wales, Australia.; Vuillerot C; Woman-Mother-Child Hospital, Hospices Civils Lyon, Bron, France.; Claude Bernard University Lyon1, France.; Grosmann C; University of California, San Diego/Rady Children's Hospital, San Diego, CA.; Camacho A; Child Neurology Unit, Department of Neurology, October 12 University Hospital, Faculty of Medicine, Complutense University, Madrid, Spain.; Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Bharucha-Goebel D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Division of Neurology, Children's National Health System, Washington, DC.; Collins J; Mercy Clinic Pediatric Neurology, Springfield, MO.; Connolly AM; Neuromuscular Division, Departments of Neurology and Pediatrics, Washington University School of Medicine, Saint Louis, MO.; Gilbreath HR; Department of Advanced Practice, Children's Medical Center of Dallas, Dallas, TX.; Iannaccone ST; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX.; Castro D; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX.; Cummings BB; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA.; Webster RI; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Lazaro L; Pediatric Service, Basque Coast Hospital Center, Bayonne, France.; Vissing J; Neuromuscular Clinic and Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Coppens S; Department of Pediatric Neurology, Neuromuscular Reference Center, Erasmus Hospital, Free University of Brussels, Brussels, Belgium.; Department of Pediatric Neurology, Neuromuscular Reference Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.; Deconinck N; Department of Pediatric Neurology, Neuromuscular Reference Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.; Luk HM; Clinical Genetic Service, Department of Health, Hong Kong, China.; Thomas NH; Department of Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Foulds NC; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Illingworth MA; Department of Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.; Ellard S; University of Exeter Medical School, Exeter, United Kingdom.; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.; McLean CA; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, Australia.; Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.; National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, United Kingdom.; Ravenscroft G; Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.; Witting N; Copenhagen Neuromuscular Unit and Department of Neurology, Rigshospitalet, Copenhagen University, Copenhagen, Denmark.; Hackman P; Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Richard I; Généthon, INSERM U951, INTEGRARE Research Unit, Évry, France.; Cooper ST; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hoffman EP; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC.; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC.; Bushby K; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.; Udd B; Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Neuromuscular Research Center, Tampere University and University Hospital, Neurology, Tampere, Finland.; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.; Vaasa Central Hospital, Department of Neurology, Vaasa, Finland.; Ferreiro A; Pathophysiology of Striated Muscles Laboratory, Unit of Functional and Adaptative Biology, BFA, Paris Diderot University/CNRS, Sorbonne Paris Cité, Paris, France.; Public Hospital Network of Paris, Paris-East Reference Center Neuromuscular Diseases, Pitié-Salpêtrière Hospital Group, Paris, France.; North KN; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.; Clarke NF; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.; Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.; Beggs AH; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.; Granzier H; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ.; Davis MR; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Western Australia, Australia.; Laing NG; Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol

Marsden, R. A.; Ryan, T. J.; Vanhegan, R. I.; Walshe, Margaret; Hill, Hilary; Mowat, A. G.

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