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Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel.
Umanah, George K E; Pignatelli, Marco; Yin, Xiling; Chen, Rong; Crawford, Joshua; Neifert, Stewart; Scarffe, Leslie; Behensky, Adam A; Guiberson, Noah; Chang, Melissa; Ma, Erica; Kim, Jin Wan; Castro, Cibele C; Mao, Xiaobo; Chen, Li; Andrabi, Shaida A; Pletnikov, Mikhail V; Pulver, Ann E; Avramopoulos, Dimitrios; Bonci, Antonello; Valle, David; Dawson, Ted M; Dawson, Valina L.
Afiliação
  • Umanah GKE; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pignatelli M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Yin X; Intramural Research Program, National Institute on Drug Abuse, Baltimore, MD 21224, USA.
  • Chen R; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Crawford J; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Neifert S; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Scarffe L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Behensky AA; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Guiberson N; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Chang M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Ma E; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Kim JW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Castro CC; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Mao X; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Chen L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Andrabi SA; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pletnikov MV; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Pulver AE; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Avramopoulos D; School of Public Health, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Bonci A; Department of Biology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Valle D; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Dawson TM; Department of Biochemistry, Institute for Basic Health Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil.
  • Dawson VL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Sci Transl Med ; 9(420)2017 Dec 13.
Article em En | MEDLINE | ID: mdl-29237760
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Piridonas / Variação Genética / Transmissão Sináptica / ATPases Associadas a Diversas Atividades Celulares / Glutamatos Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Sci Transl Med Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Piridonas / Variação Genética / Transmissão Sináptica / ATPases Associadas a Diversas Atividades Celulares / Glutamatos Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Sci Transl Med Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Estados Unidos