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Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
Mroczek, Magdalena; Durmus, Hacer; Bijarnia-Mahay, Sunita; Töpf, Ana; Ghaoui, Roula; Bryen, Samantha; Duff, Jennifer; England, Eleina; Cooper, Sandra T; MacArthur, Daniel G; Straub, Volker.
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  • Mroczek M; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Durmus H; Department of Neurology, Neuromuscular disorders Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Bijarnia-Mahay S; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Ghaoui R; Department of Neurology, Royal Adelaide Hospital, Adelaide, Australia; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.
  • Bryen S; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.
  • Duff J; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • England E; Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, United States.
  • Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia; Children's Medical Research Institute, Functional Neuromics Group, Hawesbury Road, Westmead, Aus
  • MacArthur DG; Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA, United States; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, United States.
  • Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK. Electronic address: volker.straub@ncl.ac.uk.
Neuromuscul Disord ; 30(4): 310-314, 2020 04.
Article en En | MEDLINE | ID: mdl-32331917
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Adenilosuccinato Sintasa / Miopatías Distales Tipo de estudio: Prognostic_studies / Risk_factors_studies País/Región como asunto: Asia Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Adenilosuccinato Sintasa / Miopatías Distales Tipo de estudio: Prognostic_studies / Risk_factors_studies País/Región como asunto: Asia Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2020 Tipo del documento: Article