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Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady, Gina L; Lek, Monkol; Lamande, Shireen R; Waddell, Leigh; Oates, Emily C; Punetha, Jaya; Ghaoui, Roula; Sandaradura, Sarah A; Best, Heather; Kaur, Simranpreet; Davis, Mark; Laing, Nigel G; Muntoni, Francesco; Hoffman, Eric; MacArthur, Daniel G; Clarke, Nigel F; Cooper, Sandra; North, Kathryn.
Afiliación
  • O'Grady GL; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Lek M; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Lamande SR; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Waddell L; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA.
  • Oates EC; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA.
  • Punetha J; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.
  • Ghaoui R; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.
  • Sandaradura SA; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Best H; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Kaur S; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Davis M; Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC.
  • Laing NG; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Muntoni F; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Hoffman E; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • MacArthur DG; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • Clarke NF; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Cooper S; Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia.
  • North K; Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
Ann Neurol ; 80(1): 101-11, 2016 07.
Article en En | MEDLINE | ID: mdl-27159402

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Distrofias Musculares Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Revista: Ann Neurol Año: 2016 Tipo del documento: Article País de afiliación: Australia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Predisposición Genética a la Enfermedad / Distrofias Musculares Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Humans / Infant Idioma: En Revista: Ann Neurol Año: 2016 Tipo del documento: Article País de afiliación: Australia