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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz, Rebecca; Ghosh, Rajarshi; Kuo, Molly E; Hong, William; Lim, Jaehyung; Bernes, Saunder; Manberg, Stephanie; Crosby, Kathleen; Tanpaiboon, Pranoot; Bharucha-Goebel, Diana; Bonnemann, Carsten; Mohila, Carrie A; Mizerik, Elizabeth; Woodbury, Suzanne; Bi, Weimin; Lotze, Timothy; Antonellis, Anthony; Xiao, Rui; Potocki, Lorraine.
Afiliación
  • Markovitz R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Ghosh R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Kuo ME; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan.
  • Hong W; Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan.
  • Lim J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bernes S; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
  • Manberg S; Texas Children's Hospital, Houston, Texas.
  • Crosby K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Tanpaiboon P; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
  • Bharucha-Goebel D; Texas Children's Hospital, Houston, Texas.
  • Bonnemann C; Division of Child Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.
  • Mohila CA; Division of Child Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.
  • Mizerik E; Division of Genetics and Metabolism, Children's National Hospital, Rare Disease Institute, Washington, District of Columbia.
  • Woodbury S; Division of Genetics and Metabolism, Children's National Hospital, Rare Disease Institute, Washington, District of Columbia.
  • Bi W; Division of Neurology, Children's National Hospital, Washington, District of Columbia.
  • Lotze T; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland.
  • Antonellis A; Division of Neurology, Children's National Hospital, Washington, District of Columbia.
  • Xiao R; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland.
  • Potocki L; Department of Pathology, Texas Children's Hospital, Houston, Texas.
Am J Med Genet A ; 182(5): 1167-1176, 2020 05.
Article en En | MEDLINE | ID: mdl-32181591
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofias Musculares Espinales de la Infancia / Predisposición Genética a la Enfermedad / Proteína 1 para la Supervivencia de la Neurona Motora / Glicina-ARNt Ligasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofias Musculares Espinales de la Infancia / Predisposición Genética a la Enfermedad / Proteína 1 para la Supervivencia de la Neurona Motora / Glicina-ARNt Ligasa Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article