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pro vyhledávání: '"Gilbreath, Heather R."'
Autor:
Gilbreath, Heather R.
Publikováno v:
In Physician Assistant Clinics October 2016 1(4):583-597
Autor:
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., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.
Publikováno v:
Annals of Neurology, 83, 6, pp. 1105-1124
Annals of Neurology, 83, 1105-1124
Oates, E C, Jones, K J, Donkervoort, S, Charlton, A, Brammah, S, Smith, J E, Ware, J S, Yau, K S, Swanson, L C, Whiffin, N, Peduto, A J, Bournazos, A, Waddell, L B, Farrar, M A, Sampaio, H A, Teoh, H L, Lamont, P J, Mowat, D, Fitzsimons, R B, Corbett, A J, Ryan, M M, O'Grady, G L, Sandaradura, S A, Ghaoui, R, Joshi, H, Marshall, J L, Nolan, M A, Kaur, S, Punetha, J, Töpf, A, Harris, E, Bakshi, M, Genetti, C A, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J R, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M E, Foley, A R, Bharucha-Goebel, D, Collins, J, Connolly, A M, Gilbreath, H R, Iannaccone, S T, Castro, D, Cummings, B B, Webster, R I, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H M, Thomas, N H, Foulds, N C, Illingworth, M A, Ellard, S, McLean, C A, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, S T, Kamsteeg, E J, Hoffman, E P, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, K N, Clarke, N F, Lek, M, Beggs, A H, Bönnemann, C G, MacArthur, D G, Granzier, H, Davis, M R & Laing, N G 2018, ' Congenital Titinopathy : Comprehensive characterization and pathogenic insights ', Annals of Neurology, vol. 83, no. 6, pp. 1105-1124 . https://doi.org/10.1002/ana.25241
Annals of Neurology, 83, 1105-1124
Oates, E C, Jones, K J, Donkervoort, S, Charlton, A, Brammah, S, Smith, J E, Ware, J S, Yau, K S, Swanson, L C, Whiffin, N, Peduto, A J, Bournazos, A, Waddell, L B, Farrar, M A, Sampaio, H A, Teoh, H L, Lamont, P J, Mowat, D, Fitzsimons, R B, Corbett, A J, Ryan, M M, O'Grady, G L, Sandaradura, S A, Ghaoui, R, Joshi, H, Marshall, J L, Nolan, M A, Kaur, S, Punetha, J, Töpf, A, Harris, E, Bakshi, M, Genetti, C A, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J R, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M E, Foley, A R, Bharucha-Goebel, D, Collins, J, Connolly, A M, Gilbreath, H R, Iannaccone, S T, Castro, D, Cummings, B B, Webster, R I, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H M, Thomas, N H, Foulds, N C, Illingworth, M A, Ellard, S, McLean, C A, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, S T, Kamsteeg, E J, Hoffman, E P, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, K N, Clarke, N F, Lek, M, Beggs, A H, Bönnemann, C G, MacArthur, D G, Granzier, H, Davis, M R & Laing, N G 2018, ' Congenital Titinopathy : Comprehensive characterization and pathogenic insights ', Annals of Neurology, vol. 83, no. 6, pp. 1105-1124 . https://doi.org/10.1002/ana.25241
Contains fulltext : 196367.pdf (Publisher’s version ) (Open Access) OBJECTIVE: Comprehensive clinical characterization of congenital titinopathy to facilitate diagnosis and management of this important emerging disorder. METHODS: Using massively pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8ad71b0f4b31ce3e824fff2aed5191eb
https://hdl.handle.net/2066/196367
https://hdl.handle.net/2066/196367
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Autor:
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.
Publikováno v:
Annals of neurology [Ann Neurol] 2018 Jun; Vol. 83 (6), pp. 1105-1124.