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DLG4-related synaptopathy: a new rare brain disorder.
Rodríguez-Palmero, Agustí; Boerrigter, Melissa Maria; Gómez-Andrés, David; Aldinger, Kimberly A; Marcos-Alcalde, Íñigo; Popp, Bernt; Everman, David B; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V A; Bruel, Ange-Line; Challman, Thomas D; Cogné, Benjamin; Coubes, Christine; de Man, Stella A; Denommé-Pichon, Anne-Sophie; Dye, Thomas J; Elmslie, Frances; Feuk, Lars; García-Miñaúr, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B; Haldeman-Englert, Chad R; Haukanes, Bjørn Ivar; Hoyer, Juliane; Hurst, Anna C E; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E; Leppig, Kathleen A; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A; Moghadasi, Setareh; Morton, Jenny E; Moutton, Sebastien; Müller, Amelie J; O'Leary, Melanie; Pacio-Míguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit.
Afiliación
  • Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, and Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.
  • Boerrigter MM; Paediatric Neurology Unit, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Gómez-Andrés D; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Aldinger KA; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Marcos-Alcalde Í; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
  • Popp B; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Everman DB; Molecular Modelling Group, Severo Ochoa Molecular Biology Centre (CBM SO, CSIC-UAM), Madrid, Spain.
  • Lovgren AK; Bioscience Research Institute, School of Experimental Sciences, Francisco de Vitoria University, Pozuelo de Alarcón, Spain.
  • Arpin S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Bahrambeigi V; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Beunders G; Greenwood Genetic Center, Greenwood, SC, USA.
  • Bisgaard AM; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Bjerregaard VA; Service de génétique, CHU de Tours, UMR 1253, iBrain, Université de Tours, Inserm, Tours, France.
  • Bruel AL; Greenwood Genetic Center, Greenwood, SC, USA.
  • Challman TD; Graduate School of Biomedical Sciences, The University of Texas, MD Anderson Cancer Center UTHealth, Houston, TX, USA.
  • Cogné B; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.
  • Coubes C; Center for Rett syndrome, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.
  • de Man SA; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Denommé-Pichon AS; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.
  • Dye TJ; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA, USA.
  • Elmslie F; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • Feuk L; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • García-Miñaúr S; Département de Génétique Médicale, Maladies rares et Médecine personnalisée, CHU Montpellier, France.
  • Gertler T; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands.
  • Giorgio E; INSERM UMR1231, GAD, University of Burgundy, FHU-TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.
  • Gruchy N; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
  • Haack TB; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
  • Haldeman-Englert CR; South West Thames Regional Genetics Service, St George's University Hospitals, University of London, London, United Kingdom.
  • Haukanes BI; Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
  • Hoyer J; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, Madrid, Spain.
  • Hurst ACE; Division of Neurology, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.
  • Isidor B; Department of Medical Sciences, University of Turin, Torino, Italy.
  • Soller MJ; Service de Génétique, CHU Caen Clemenceau, Biotargen, Univ Caen, France.
  • Kushary S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Kvarnung M; Mission Fullerton Genetics Center, Asheville, NC, USA.
  • Landau YE; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
  • Leppig KA; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
  • Lindstrand A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Kleinendorst L; Service de Génétique Médicale, CHU Nantes, Nantes, France.
  • MacKenzie A; Université de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Mandrile G; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Mendelsohn BA; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Moghadasi S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
  • Morton JE; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
  • Moutton S; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Müller AJ; Leumit Health Care Services, Tel-Aviv, Israel.
  • O'Leary M; Metabolic Disease Service, Schneider Children's Medical Center of Israel, Tel-Aviv, Israel.
  • Pacio-Míguez M; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Palomares-Bralo M; Genetic Services, Kaiser Permanente of Washington, Seattle, WA, USA.
  • Parikh S; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Genet Med ; 23(5): 888-899, 2021 05.
Article en En | MEDLINE | ID: mdl-33597769
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: España
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Trastornos del Neurodesarrollo / Trastorno del Espectro Autista / Discapacidad Intelectual Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: España