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A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.
Piard, Juliette; Umanah, George K Essien; Harms, Frederike L; Abalde-Atristain, Leire; Amram, Daniel; Chang, Melissa; Chen, Rong; Alawi, Malik; Salpietro, Vincenzo; Rees, Mark I; Chung, Seo-Kyung; Houlden, Henry; Verloes, Alain; Dawson, Ted M; Dawson, Valina L; Van Maldergem, Lionel; Kutsche, Kerstin.
Afiliação
  • Piard J; Centre de génétique humaine, Université de Franche-Comté, Besançon, France.
  • Umanah GKE; Integrative and Cognitive Neurosciences Research Unit EA481, University of Franche-Comté, Besançon, France.
  • Harms FL; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Abalde-Atristain L; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Amram D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Chang M; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Chen R; Cellular and Molecular Medicine Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Alawi M; Unité fonctionnelle de génétique clinique, Centre hospitalier intercommunal, Créteil, France.
  • Salpietro V; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Rees MI; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Chung SK; Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Houlden H; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
  • Verloes A; University Medical Center Hamburg-Eppendorf, Bioinformatics Core Facility, 20246 Hamburg, Germany.
  • Dawson TM; Heinrich-Pette-Institute, Leibniz-Institute for Experimental Virology, Virus Genomics, Hamburg, Germany.
  • Dawson VL; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Van Maldergem L; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea, UK.
  • Kutsche K; Neurology Research Group, Institute of Life Science, Swansea University Medical School, Swansea University, Swansea, UK.
Brain ; 141(3): 651-661, 2018 03 01.
Article em En | MEDLINE | ID: mdl-29390050
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Regulação da Expressão Gênica / Receptores de AMPA / ATPases Associadas a Diversas Atividades Celulares / Mutação / Neurônios Tipo de estudo: Etiology_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Regulação da Expressão Gênica / Receptores de AMPA / ATPases Associadas a Diversas Atividades Celulares / Mutação / Neurônios Tipo de estudo: Etiology_studies Limite: Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article