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Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates, Emily C; Jones, Kristi J; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E; Ware, James S; Yau, Kyle S; Swanson, Lindsay C; Whiffin, Nicola; Peduto, Anthony J; Bournazos, Adam; Waddell, Leigh B; Farrar, Michelle A; Sampaio, Hugo A; Teoh, Hooi Ling; Lamont, Phillipa J; Mowat, David; Fitzsimons, Robin B; Corbett, Alastair J; Ryan, Monique M; O'Grady, Gina L; Sandaradura, Sarah A; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L; Nolan, Melinda A; Kaur, Simranpreet; Punetha, Jaya; Töpf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E; Foley, A Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M; Gilbreath, Heather R; Iannaccone, Susan T.
Affiliation
  • Oates EC; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
  • Jones KJ; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Donkervoort S; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Charlton A; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, New South Wales, Australia.
  • Brammah S; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Smith JE; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Ware JS; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.
  • Yau KS; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Swanson LC; Department of Histopathology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Whiffin N; Electron Microscope Unit, Department of Anatomical Pathology, Concord Repatriation General Hospital, Concord, Sydney, New South Wales, Australia.
  • Peduto AJ; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ.
  • Bournazos A; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London, United Kingdom.
  • Waddell LB; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom.
  • Farrar MA; Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Sampaio HA; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.
  • Teoh HL; National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London, London, United Kingdom.
  • Lamont PJ; Royal Brompton and Harefield Hospitals NHS Trust, London, United Kingdom.
  • Mowat D; Department of Radiology, Westmead Hospital, Sydney, New South Wales, Australia.
  • Fitzsimons RB; University of Sydney Western Clinical School, Sydney, New South Wales, Australia.
  • Corbett AJ; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Ryan MM; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • O'Grady GL; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Sandaradura SA; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Ghaoui R; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Joshi H; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.
  • Marshall JL; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Nolan MA; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.
  • Kaur S; Department of Neurology, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Punetha J; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.
  • Töpf A; Neurogenetic Unit, Department of Neurology, Royal Perth Hospital, Perth, Western Australia, Australia.
  • Harris E; School of Women's and Children's Health, University of New South Wales Sydney, Sydney, New South Wales, Australia.
  • Bakshi M; Department of Medical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.
  • Genetti CA; Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia.
  • Marttila M; Department of Neurology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia.
  • Werlauff U; Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Streichenberger N; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
  • Pestronk A; University of Melbourne, Parkville, Victoria, Australia.
  • Mazanti I; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Pinner JR; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Vuillerot C; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand.
  • Grosmann C; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Camacho A; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Mohassel P; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Leach ME; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
  • Foley AR; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Bharucha-Goebel D; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
  • Collins J; Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA.
  • Connolly AM; Paediatric Neuroservices, Starship Child Health, Auckland, New Zealand.
  • Gilbreath HR; Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
  • Iannaccone ST; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC.
Ann Neurol ; 83(6): 1105-1124, 2018 06.
Article in En | MEDLINE | ID: mdl-29691892
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Muscle, Skeletal / Connectin / Muscle Proteins Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Ann Neurol Year: 2018 Type: Article Affiliation country: United kingdom
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Dilated / Muscle, Skeletal / Connectin / Muscle Proteins Type of study: Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Ann Neurol Year: 2018 Type: Article Affiliation country: United kingdom