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GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.

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Title: GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Authors: 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.; Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan., Hong W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Lim J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Bernes S; Division of Child Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona., Manberg S; Division of Child Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona., Crosby K; Division of Genetics and Metabolism, Children's National Hospital, Rare Disease Institute, Washington, District of Columbia., Tanpaiboon P; Division of Genetics and Metabolism, Children's National Hospital, Rare Disease Institute, Washington, District of Columbia., Bharucha-Goebel D; Division of Neurology, Children's National Hospital, Washington, District of Columbia.; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland., Bonnemann C; Division of Neurology, Children's National Hospital, Washington, District of Columbia.; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland., Mohila CA; Department of Pathology, Texas Children's Hospital, Houston, Texas.; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas., Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Woodbury S; Texas Children's Hospital, Houston, Texas.; Baylor College of Medicine, Department of Physical Medicine and Rehabilitation, Houston, Texas., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Lotze T; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas., Antonellis A; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Department of Neurology, University of Michigan, Ann Arbor, Michigan., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1167-1176. Date of Electronic Publication: 2020 Mar 17.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
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  Data: <searchLink fieldCode="AU" term="%22Markovitz+R%22">Markovitz R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Ghosh+R%22">Ghosh R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Kuo+ME%22">Kuo ME</searchLink>; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan.; Medical Scientist Training Program, University of Michigan, Ann Arbor, Michigan.<br /><searchLink fieldCode="AU" term="%22Hong+W%22">Hong W</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Lim+J%22">Lim J</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Bernes+S%22">Bernes S</searchLink>; Division of Child Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.<br /><searchLink fieldCode="AU" term="%22Manberg+S%22">Manberg S</searchLink>; Division of Child Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona.<br /><searchLink fieldCode="AU" term="%22Crosby+K%22">Crosby K</searchLink>; Division of Genetics and Metabolism, Children's National Hospital, Rare Disease Institute, Washington, District of Columbia.<br /><searchLink fieldCode="AU" term="%22Tanpaiboon+P%22">Tanpaiboon P</searchLink>; Division of Genetics and Metabolism, Children's National Hospital, Rare Disease Institute, Washington, District of Columbia.<br /><searchLink fieldCode="AU" term="%22Bharucha-Goebel+D%22">Bharucha-Goebel D</searchLink>; Division of Neurology, Children's National Hospital, Washington, District of Columbia.; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Bonnemann+C%22">Bonnemann C</searchLink>; Division of Neurology, Children's National Hospital, Washington, District of Columbia.; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, Maryland.<br /><searchLink fieldCode="AU" term="%22Mohila+CA%22">Mohila CA</searchLink>; Department of Pathology, Texas Children's Hospital, Houston, Texas.; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Mizerik+E%22">Mizerik E</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Woodbury+S%22">Woodbury S</searchLink>; Texas Children's Hospital, Houston, Texas.; Baylor College of Medicine, Department of Physical Medicine and Rehabilitation, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Bi+W%22">Bi W</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Lotze+T%22">Lotze T</searchLink>; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Antonellis+A%22">Antonellis A</searchLink>; Cellular and Molecular Biology Program, University of Michigan, Ann Arbor, Michigan.; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.; Department of Neurology, University of Michigan, Ann Arbor, Michigan.<br /><searchLink fieldCode="AU" term="%22Xiao+R%22">Xiao R</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Potocki+L%22">Potocki L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2020 May; Vol. 182 (5), pp. 1167-1176. <i>Date of Electronic Publication: </i>2020 Mar 17.
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