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A novel missense mutation in GRIN2A causes a nonepileptic neurodevelopmental disorder.
Fernández-Marmiesse, Ana; Kusumoto, Hirofumi; Rekarte, Saray; Roca, Iria; Zhang, Jin; Myers, Scott J; Traynelis, Stephen F; Couce, Mª Luz; Gutierrez-Solana, Luis; Yuan, Hongjie.
Afiliação
  • Fernández-Marmiesse A; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.
  • Kusumoto H; Centro de Investigación Biomédica de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Rekarte S; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
  • Roca I; Unit of Child Neurology, Department of Pediatrics, Hospital Infantil Universitario Niño Jesús de Madrid, Madrid, Spain.
  • Zhang J; Unit for the Diagnosis and Treatment of Congenital Metabolic Diseases, Clinical University Hospital of Santiago de Compostela, Health Research Institute of Santiago de Compostela, Santiago de Compostela, Galicia, Spain.
  • Myers SJ; Centro de Investigación Biomédica de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.
  • Traynelis SF; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
  • Couce ML; Department of Neurology, the First Hospital of Shanxi Medical University, Taiyuan, China.
  • Gutierrez-Solana L; Department of Pharmacology, Emory University School of Medicine, Rollins Research Center, Atlanta, Georgia, USA.
  • Yuan H; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.
Mov Disord ; 33(6): 992-999, 2018 Jul.
Article em En | MEDLINE | ID: mdl-29644724
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de N-Metil-D-Aspartato / Mutação de Sentido Incorreto / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Receptores de N-Metil-D-Aspartato / Mutação de Sentido Incorreto / Transtornos do Neurodesenvolvimento Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Mov Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Espanha