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J-GLOBAL ID：201902218024876265   Reference number：19A1836498

Expansion of the clinical spectrum associated with AARS2-related disorders

AARS2関連疾患に関連した臨床スペクトラムの拡大【JST・京大機械翻訳】

Author (15)： Srivastava Siddharth (Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts) ,  Butala Ankur (Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland) ,  Mahida Sonal (Department of Neurology, Boston Children’s Hospital, Boston, Massachusetts) ,  Richter John (Department of Neurology, Mayo Clinic, Jacksonville, Florida) ,  Mu Weiyi (Institute of Genetic Medicine, The Johns Hopkins Hospital, Baltimore, Maryland) ,  Poretti Andrea (Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland) ,  Poretti Andrea (Department of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland) ,  Vernon Hilary (Institute of Genetic Medicine, The Johns Hopkins Hospital, Baltimore, Maryland) ,  VanGerpen Jay (Department of Neurology, Mayo Clinic, Jacksonville, Florida) ,  Atwal Paldeep S. (Department of Neurology, Mayo Clinic, Jacksonville, Florida) ,  Middlebrooks Erik H. (Department of Radiology and Neurosurgery, Mayo Clinic, Jacksonville, Florida) ,  Zee David S. (Department of Neurology, The Johns Hopkins Hospital, Baltimore, Maryland) ,  Zee David S. (Department of Ophthalmology, Otolaryngology, Head and Neck Surgery and Neuroscience, The Johns Hopkins Hospital, Baltimore, Maryland) ,  Naidu SakkuBai (Department of Neurogenetics, Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, Maryland) ,  Naidu SakkuBai (Department of Neurology and Pediatrics, The Johns Hopkins Hospital, Baltimore, Maryland)
Material： American Journal of Medical Genetics. Part A  (Am J Med Genet Part A)
Volume： 179  Issue： 8  Page： 1556-1564  Publication year： 2019 
JST Material Number： E0725C  ISSN： 1552-4825  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Biallelic pathogenic variants ...

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Thesaurus term： psychotic disorder ,  Dementia ,  depression (symptom) ,  case report ,  human ,  Mitochondria ,  man ,  adult (person) ,  dystonia ,  Ataxia ,  woman ,  allele ,  white matter ,  *spectrum ,  tremor (disease) ,  childhood
Semi thesaurus term： 発症 , 【Automatic Indexing@JST】

Author keywords (4)： AARS2 ,  leukodystrophy ,  movement disorder ,  polyneuropathy

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O)

Terms in the title (4)： 疾患 ,  臨床 ,  スペクトラム ,  拡大