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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

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Title: Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Authors: 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.
Source: Annals of neurology [Ann Neurol] 2018 Jun; Vol. 83 (6), pp. 1105-1124.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
Journal Info: 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
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
– Name: Author
  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Oates+EC%22">Oates EC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jones+KJ%22">Jones KJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Donkervoort+S%22">Donkervoort S</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Charlton+A%22">Charlton A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Brammah+S%22">Brammah S</searchLink>; Electron Microscope Unit, Department of Anatomical Pathology, Concord Repatriation General Hospital, Concord, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Smith+JE+3rd%22">Smith JE 3rd</searchLink>; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ.<br /><searchLink fieldCode="AU" term="%22Ware+JS%22">Ware JS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Yau+KS%22">Yau KS</searchLink>; Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Swanson+LC%22">Swanson LC</searchLink>; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Whiffin+N%22">Whiffin N</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Peduto+AJ%22">Peduto AJ</searchLink>; Department of Radiology, Westmead Hospital, Sydney, New South Wales, Australia.; University of Sydney Western Clinical School, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Bournazos+A%22">Bournazos A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Waddell+LB%22">Waddell LB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Farrar+MA%22">Farrar MA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sampaio+HA%22">Sampaio HA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Teoh+HL%22">Teoh HL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lamont+PJ%22">Lamont PJ</searchLink>; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Mowat+D%22">Mowat D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Fitzsimons+RB%22">Fitzsimons RB</searchLink>; Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Corbett+AJ%22">Corbett AJ</searchLink>; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Ryan+MM%22">Ryan MM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22O'Grady+GL%22">O'Grady GL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sandaradura+SA%22">Sandaradura SA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ghaoui+R%22">Ghaoui R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Joshi+H%22">Joshi H</searchLink>; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Marshall+JL%22">Marshall JL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nolan+MA%22">Nolan MA</searchLink>; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand.<br /><searchLink fieldCode="AU" term="%22Kaur+S%22">Kaur S</searchLink>; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Punetha+J%22">Punetha J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Töpf+A%22">Töpf A</searchLink>; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Harris+E%22">Harris E</searchLink>; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bakshi+M%22">Bakshi M</searchLink>; Department of Clinical Genetics, Liverpool Hospital, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Marttila+M%22">Marttila M</searchLink>; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Werlauff+U%22">Werlauff U</searchLink>; Danish National Rehabilitation Center for Neuromuscular Diseases, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Streichenberger+N%22">Streichenberger N</searchLink>; Neuropathology Department, Hospices Civils Lyon, Claude Bernard University, Lyon1, France.; NeuroMyogene Institute, CNRS UMR 5310, INSERM U1217, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Pestronk+A%22">Pestronk A</searchLink>; Department of Neurology, Washington University School of Medicine, Saint Louis, MO.; Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, MO.<br /><searchLink fieldCode="AU" term="%22Mazanti+I%22">Mazanti I</searchLink>; Cellular Pathology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pinner+JR%22">Pinner JR</searchLink>; Department of Medical Genomics, Royal Prince Alfred Hospital, Camperdown, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Vuillerot+C%22">Vuillerot C</searchLink>; Woman-Mother-Child Hospital, Hospices Civils Lyon, Bron, France.; Claude Bernard University Lyon1, France.<br /><searchLink fieldCode="AU" term="%22Grosmann+C%22">Grosmann C</searchLink>; University of California, San Diego/Rady Children's Hospital, San Diego, CA.<br /><searchLink fieldCode="AU" term="%22Camacho+A%22">Camacho A</searchLink>; Child Neurology Unit, Department of Neurology, October 12 University Hospital, Faculty of Medicine, Complutense University, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mohassel+P%22">Mohassel P</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Leach+ME%22">Leach ME</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Foley+AR%22">Foley AR</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22Bharucha-Goebel+D%22">Bharucha-Goebel D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Collins+J%22">Collins J</searchLink>; Mercy Clinic Pediatric Neurology, Springfield, MO.<br /><searchLink fieldCode="AU" term="%22Connolly+AM%22">Connolly AM</searchLink>; Neuromuscular Division, Departments of Neurology and Pediatrics, Washington University School of Medicine, Saint Louis, MO.<br /><searchLink fieldCode="AU" term="%22Gilbreath+HR%22">Gilbreath HR</searchLink>; Department of Advanced Practice, Children's Medical Center of Dallas, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Iannaccone+ST%22">Iannaccone ST</searchLink>; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Castro+D%22">Castro D</searchLink>; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX.; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX.<br /><searchLink fieldCode="AU" term="%22Cummings+BB%22">Cummings BB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Webster+RI%22">Webster RI</searchLink>; T. Y. Nelson Department of Neurology and Neurosurgery, Children's Hospital at Westmead, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Lazaro+L%22">Lazaro L</searchLink>; Pediatric Service, Basque Coast Hospital Center, Bayonne, France.<br /><searchLink fieldCode="AU" term="%22Vissing+J%22">Vissing J</searchLink>; Neuromuscular Clinic and Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Coppens+S%22">Coppens S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Deconinck+N%22">Deconinck N</searchLink>; Department of Pediatric Neurology, Neuromuscular Reference Center, Queen Fabiola Children's University Hospital, Free University of Brussels, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Luk+HM%22">Luk HM</searchLink>; Clinical Genetic Service, Department of Health, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Thomas+NH%22">Thomas NH</searchLink>; Department of Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Foulds+NC%22">Foulds NC</searchLink>; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Illingworth+MA%22">Illingworth MA</searchLink>; Department of Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ellard+S%22">Ellard S</searchLink>; University of Exeter Medical School, Exeter, United Kingdom.; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22McLean+CA%22">McLean CA</searchLink>; Department of Anatomical Pathology, Alfred Hospital, Melbourne, Victoria, Australia.; Faculty of Medicine, Nursing, and Health Sciences, Monash University, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Phadke+R%22">Phadke R</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Witting+N%22">Witting N</searchLink>; Copenhagen Neuromuscular Unit and Department of Neurology, Rigshospitalet, Copenhagen University, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Hackman+P%22">Hackman P</searchLink>; Folkhälsan Institute of Genetics, Medicum, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Richard+I%22">Richard I</searchLink>; Généthon, INSERM U951, INTEGRARE Research Unit, Évry, France.<br /><searchLink fieldCode="AU" term="%22Cooper+ST%22">Cooper ST</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Kamsteeg+EJ%22">Kamsteeg EJ</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hoffman+EP%22">Hoffman EP</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bushby+K%22">Bushby K</searchLink>; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Straub+V%22">Straub V</searchLink>; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Udd+B%22">Udd B</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ferreiro+A%22">Ferreiro A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22North+KN%22">North KN</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Clarke+NF%22">Clarke NF</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lek+M%22">Lek M</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Beggs+AH%22">Beggs AH</searchLink>; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.<br /><searchLink fieldCode="AU" term="%22Bönnemann+CG%22">Bönnemann CG</searchLink>; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.<br /><searchLink fieldCode="AU" term="%22MacArthur+DG%22">MacArthur DG</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA.<br /><searchLink fieldCode="AU" term="%22Granzier+H%22">Granzier H</searchLink>; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ.<br /><searchLink fieldCode="AU" term="%22Davis+MR%22">Davis MR</searchLink>; Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Laing+NG%22">Laing NG</searchLink>; Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.
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  Data: <searchLink fieldCode="JN" term="%227707449%22">Annals of neurology</searchLink> [Ann Neurol] 2018 Jun; Vol. 83 (6), pp. 1105-1124.
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