المؤلفون: Diaz J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France., Gérard X; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France., Emerit MB; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France., Areias J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France., Geny D; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France., Dégardin J; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France., Simonutti M; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France., Guerquin MJ; CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, France., Collin T; Saint Pères Paris Institute for the Neurosciences CNRS - UMR 8003 Université de Paris, Paris 75006, France., Viollet C; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France., Billard JM; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France., Métin C; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France., Hubert L; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France., Larti F; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran., Kahrizi K; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran., Jobling R; The Hospital for Sick Children, Molecular Genetics, Toronto, Canada., Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, 00146 Rome, Italy., Shaheen R; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia., Zigler A; CHU Angers, Génétique, France., Rouiller-Fabre V; CEA, DSV, IRCM, SCSR, Fontenay-Aux-Roses, France., Rozet JM; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France., Picaud S; INSERM UMR-S968, Institut de la vision, Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Paris F-75012, Université Pierre et Marie Curie, France., Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, 00146 Rome, Italy., Alameer S; Department of Pediatrics, King Khaled National Guard Hospital, King Abdulaziz Medical City, Jeddah, Saudi Arabia., Najmabadi H; University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran 19834, Iran., Cohn R; The Hospital for Sick Children, Molecular Genetics, Toronto, Canada., Munnich A; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France., Barth M; CHU Angers, Génétique, France., Lugli L; Division of Neonatal Intensive Care Unit, Department of Pediatrics, University Hospital, 41125 Modena, Italy., Alkuraya FS; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia., Blaser S; Division of Neuroradiology, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Gashlan M; King Faisal Specialist Hospital and Research Center, Developmental Genetics Unit, Riyadh 11211, Saudi Arabia., Besmond C; INSERM UMR-S1163 Imagine Institute for Genetic Diseases, Paris Descartes-Sorbonne Paris Cité University, France., Darmon M; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France., Masson J; INSERM UMR894, Center for Psychiatry and Neuroscience, Paris F-75014, Université Paris Descartes, Sorbonne Paris Cité - Paris 5, France.; INSERM, UMR-S1270, Institut du Fer à Moulin, Sorbonne Université, Paris F-75005, France.

المصدر: Brain : a journal of neurology [Brain] 2020 Oct 01; Vol. 143 (10), pp. 2911-2928.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Cilia/*genetics , Golgi Apparatus/*genetics , Mutation/*genetics , Neurodevelopmental Disorders/*genetics , Vesicular Transport Proteins/*genetics, Animals ; Cells, Cultured ; Cilia/pathology ; Female ; Golgi Apparatus/pathology ; Humans ; Male ; Mice ; Mice, Knockout ; Neurodevelopmental Disorders/diagnostic imaging