Your browser doesn't support javascript.
loading
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen, James P; Garber, Kathryn B; Perszyk, Riley; Khayat, Cara T; Kell, Steven A; Kaneko, Maki; Quindipan, Catherine; Saitta, Sulagna; Ladda, Roger L; Hewson, Stacy; Inbar-Feigenberg, Michal; Prasad, Chitra; Prasad, Asuri N; Olewiler, Leah; Mu, Weiyi; Rosenthal, Liana S; Scala, Marcello; Striano, Pasquale; Zara, Federico; McCullock, Tyler W; Jauss, Robin-Tobias; Lemke, Johannes R; MacLean, David M; Zhu, Cheng; Yuan, Hongjie; Myers, Scott J; Traynelis, Stephen F.
  • Allen JP; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.
  • Garber KB; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.
  • Perszyk R; Department of Human Genetics, Emory University School of Medicine, 615 Michael St., Atlanta GA 30322, United States.
  • Khayat CT; EGL Genetics, 2460 Mountain Industrial Blvd., Tucker, GA 30084, United States.
  • Kell SA; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.
  • Kaneko M; Department of Biomedical Engineering, Georgia Institute of Technology, 313 Ferst Drive, Atlanta, GA 30332, United States.
  • Quindipan C; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, 1510 Clifton Rd., Atlanta, GA 30322, United States.
  • Saitta S; Department of Chemistry, Emory University School of Medicine, 1515 Dickey Dr, Atlanta, GA 30322, United States.
  • Ladda RL; Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, United States.
  • Hewson S; Center for Personalized Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, United States.
  • Inbar-Feigenberg M; Center for Personalized Medicine, Children's Hospital Los Angeles, 4650 Sunset Blvd, Los Angeles, CA 90027, United States.
  • Prasad C; Division of Clinical Genetics, Departments of Human Genetics, OBGYN and Pediatrics, David Geffen School of Medicine at UCLA, 200 Medical Plaza, Los Angeles, CA 90095, United States.
  • Prasad AN; Division of Human Genetics, Department of Pediatrics, Penn State College of Medicine, 600 University Dr, Hershey, PA 17033, United States.
  • Olewiler L; Department of Genetic Counselling, The Hospital for Sick Children and Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, ON M5G 1X8, Canada.
  • Mu W; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children and Pediatrics, University of Toronto, 555 University Avenue, Toronto ON M5G 1X8, Canada.
  • Rosenthal LS; Department of Pediatrics (Section of Genetics and Metabolism), Western University and Schulich School of Medicine and Dentistry, Children's Hospital LHSC, 800 Commissioners Road East, London, ON N6A5W9, Canada.
  • Scala M; Division of Pediatric Neurology, Department of Pediatrics and Clinical Neurological Sciences, Western University and Schulich School of Medicine and Dentistry, Children's Hospital LHSC, 800 Commissioners Road East, London, ON N6A5W9, Canada.
  • Striano P; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, 2500 N. State St., Jackson, MS 39216, United States.
  • Zara F; Department of Genetic Medicine, Johns Hopkins University, 600 N. Wolfe St., Baltimore MD 21287, United States.
  • McCullock TW; Department of Neurology, Johns Hopkins University, 601 N. Caroline St., Baltimore MD 21287, United States.
  • Jauss RT; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Largo Paolo Daneo, 3, 16132 Genova GE, Italy.
  • Lemke JR; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Pavilion 16, Via Gerolamo Gaslini, 516147 Genoa GE, Italy.
  • MacLean DM; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Largo Paolo Daneo, 3, 16132 Genova GE, Italy.
  • Zhu C; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Pavilion 16, Via Gerolamo Gaslini, 516147 Genoa GE, Italy.
  • Yuan H; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Pavilion 20, Via Gerolamo Gaslini, 516147 Genoa GE, Italy.
  • Myers SJ; Department Pharmacology and Physiology, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester NY, 14642, United States.
  • Traynelis SF; Institute of Human Genetics, University of Leipzig Medical Center, Philipp-Rosenthal-Str. 55, Haus W, Leipzig 04103, Germany.
Hum Mol Genet ; 33(4): 355-373, 2024 Feb 01.
Article en En | MEDLINE | ID: mdl-37944084
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sistema Nervioso Central / Receptores de Glutamato Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sistema Nervioso Central / Receptores de Glutamato Límite: Humans Idioma: En Año: 2024 Tipo del documento: Article