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. |
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| 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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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.61544 |
