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Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.
Poole, Olivia V; Pizzamiglio, Chiara; Murphy, David; Falabella, Micol; Macken, William L; Bugiardini, Enrico; Woodward, Cathy E; Labrum, Robyn; Efthymiou, Stephanie; Salpietro, Vincenzo; Chelban, Viorica; Kaiyrzhanov, Rauan; Maroofian, Reza; Amato, Anthony A; Gregory, Allison; Hayflick, Susan J; Jonvik, Hallgeir; Wood, Nicholas; Houlden, Henry; Vandrovcova, Jana; Hanna, Michael G; Pittman, Alan; Pitceathly, Robert D S.
Afiliação
  • Poole OV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pizzamiglio C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Falabella M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
  • Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Bugiardini E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Woodward CE; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Labrum R; Neurogenetics Unit, The National Hospital for Neurology and Neurosurgery, London, UK.
  • Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Amato AA; Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
  • Gregory A; Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health and Science University, Portland, OR.
  • Hayflick SJ; Departments of Molecular and Medical Genetics, Pediatrics, and Neurology, Oregon Health and Science University, Portland, OR.
  • Jonvik H; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Wood N; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Vandrovcova J; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Hanna MG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
  • Pittman A; Genetics Research Centre, St. George's, University of London, London, UK.
  • Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
Ann Neurol ; 89(6): 1240-1247, 2021 06.
Article em En | MEDLINE | ID: mdl-33704825

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças Mitocondriais / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child, preschool / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: DNA Mitocondrial / Doenças Mitocondriais / Doenças do Sistema Nervoso Tipo de estudo: Diagnostic_studies Limite: Adolescent / Adult / Aged / Aged80 / Child, preschool / Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article