المؤلفون: Ung DC; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France., Pietrancosta N; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France.; Laboratoire des biomolécules, Département de chimie, École normale supérieure, PSL University, Sorbonne Université, CNRS, 75005, Paris, France., Badillo EB; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France., Raux B; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France., Tapken D; Department of Biochemistry I - Receptor Biochemistry, Faculty of Chemistry and Biochemistry, Ruhr University Bochum, D-44780, Bochum, Germany., Zlatanovic A; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France., Doridant A; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France., Pode-Shakked B; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, 5262000, Israel.; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, 5262000, Israel.; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel., Raas-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, 5262000, Israel.; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel., Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Abu-Libdeh B; Department of Pediatrics, Makassed Hospital and Faculty of Medicine, Al-Quds University, East Jerusalem, Jerusalem, Palestine., Hamed N; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, 5262000, Israel., Papon MA; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France., Marouillat S; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France., Thépault RA; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France., Stevanin G; Univ. Bordeaux, INCIA, UMR 5287 CNRS EPHE, F-33000, Bordeaux, France., Elegheert J; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France., Letellier M; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France., Hollmann M; Department of Biochemistry I - Receptor Biochemistry, Faculty of Chemistry and Biochemistry, Ruhr University Bochum, D-44780, Bochum, Germany., Lambolez B; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France., Tricoire L; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France., Toutain A; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France. annick.toutain@univ-tours.fr.; Unité fonctionnelle de Génétique Médicale, Centre Hospitalier Universitaire, 37044, Tours, France. annick.toutain@univ-tours.fr., Hepp R; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France. regine.hepp@upmc.fr., Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France. frederic.laumonnier@inserm.fr.; Service de Génétique, Centre Hospitalier Universitaire, 37044, Tours, France. frederic.laumonnier@inserm.fr.

المصدر: Molecular psychiatry [Mol Psychiatry] 2024 Apr; Vol. 29 (4), pp. 1205-1215. Date of Electronic Publication: 2024 Feb 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Synapses*/metabolism , Synapses*/genetics , Receptors, Metabotropic Glutamate*/genetics , Receptors, Metabotropic Glutamate*/metabolism , Signal Transduction*/genetics, Humans ; Male ; Female ; Homozygote ; Receptors, Glutamate/genetics ; Receptors, Glutamate/metabolism ; Receptor, Metabotropic Glutamate 5/metabolism ; Receptor, Metabotropic Glutamate 5/genetics ; Pedigree ; Adult ; Paraplegia/genetics ; Paraplegia/metabolism ; Animals ; Child ; Neurons/metabolism ; Adolescent ; HEK293 Cells ; Mutation/genetics

المؤلفون: Desprez F; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Ung DC; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Vourc'h P; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Laboratoire de Biochimie et de Biologie Moléculaire, Centre Hospitalier Régional Universitaire, Tours, France., Jeanne M; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Laumonnier F; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.

المصدر: Frontiers in neuroscience [Front Neurosci] 2023 Apr 17; Vol. 17, pp. 1154446. Date of Electronic Publication: 2023 Apr 17 (Print Publication: 2023).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE

المؤلفون: Boitnott A; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Garcia-Forn M; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Ung DC; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Niblo K; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Mendonca D; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Park Y; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Flores M; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Biology, New York University, College of Arts and Sciences, New York, New York., Maxwell S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; The Bronx High School of Science, New York, New York., Ellegood J; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada., Qiu LR; Wellcome Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom., Grice DE; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York., Lerch JP; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada; Wellcome Centre for Integrative Neuroimaging, FMRIB, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom., Rasin MR; Department of Neuroscience and Cell Biology, Rutgers University, Robert Wood Johnson Medical School, Piscataway, New Jersey., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York., Drapeau E; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address: silvia.derubeis@mssm.edu.

المصدر: Biological psychiatry [Biol Psychiatry] 2021 Dec 01; Vol. 90 (11), pp. 742-755. Date of Electronic Publication: 2021 Jun 07.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0213264 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2402 (Electronic) Linking ISSN: 00063223 NLM ISO Abbreviation: Biol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*, Animals ; DEAD-box RNA Helicases/genetics ; Disease Models, Animal ; Female ; Mice ; Neurogenesis ; Phenotype ; Syndrome

المؤلفون: Halewa J; UMR1253, iBrain, INSERM, University of Tours, Tours, France., Marouillat S; UMR1253, iBrain, INSERM, University of Tours, Tours, France., Dixneuf M; UMR1253, iBrain, INSERM, University of Tours, Tours, France., Thépault RA; UMR1253, iBrain, INSERM, University of Tours, Tours, France., Ung DC; UMR1253, iBrain, INSERM, University of Tours, Tours, France., Chatron N; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, CNRS UMR-5310, INSERM U-1217, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France., Gérard B; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Ghoumid J; EA7364 RADEME, Clinique de Génétique Guy Fontaine, Université de Lille, CHU de Lille, Lille, France., Lesca G; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, CNRS UMR-5310, INSERM U-1217, Univ Lyon, Université Claude Bernard Lyon 1, Lyon, France., Till M; Department of Genetics, Hospices Civils de Lyon, Lyon, France., Smol T; EA7364 RADEME, Institut de Génétique Médicale, Université de Lille, CHU de Lille, Lille, France., Couque N; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Ruaud L; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France., Chune V; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France., Grotto S; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France., Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; INSERM, UMR1141, Denis Diderot School of Medicine, Paris University, Paris, France., Vuillaume ML; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France., Toutain A; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France., Raynaud M; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France., Laumonnier F; UMR1253, iBrain, INSERM, University of Tours, Tours, France.; Service de Génétique, Centre hospitalier régional universitaire de Tours, Tours, France.

المصدر: Human mutation [Hum Mutat] 2021 Jul; Vol. 42 (7), pp. 848-861. Date of Electronic Publication: 2021 May 03.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Autism Spectrum Disorder*/genetics , Intellectual Disability*/genetics , Membrane Proteins*/genetics, Animals ; Cell Membrane/metabolism ; Humans ; Male ; Mice ; Mutation, Missense

المؤلفون: Jeanne M; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Ung DC; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Vancollie VE; Wellcome Sanger Institute, Wellcome Genome Campus, Cambridge, Hinxton, UK., Wagner C; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France., Collins SC; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France., Vonwill S; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Haye D; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Chelloug N; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Kummeling J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Moizard MP; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Marouillat S; UMR 1253, iBrain, University of Tours, Inserm, Tours, France., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Yalcin B; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (Inserm), U 1258, Illkirch, France.; Université de Strasbourg, Illkirch, France., Laumonnier F; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France. frederic.laumonnier@inserm.fr.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France. frederic.laumonnier@inserm.fr., Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.

المصدر: Human genetics [Hum Genet] 2021 Jun; Vol. 140 (6), pp. 885-896. Date of Electronic Publication: 2021 Jan 08.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Haploinsufficiency*, Cell Cycle Proteins/*genetics , DiGeorge Syndrome/*genetics , Histone Chaperones/*genetics , Neurodevelopmental Disorders/*genetics , Neuronal Plasticity/*genetics , Neurons/*metabolism , Transcription Factors/*genetics, Animals ; Base Sequence ; Cell Cycle Proteins/antagonists & inhibitors ; Cell Cycle Proteins/deficiency ; Cell Cycle Proteins/metabolism ; Child ; Child, Preschool ; Corpus Callosum/metabolism ; Corpus Callosum/pathology ; DiGeorge Syndrome/metabolism ; DiGeorge Syndrome/pathology ; Female ; Fornix, Brain/metabolism ; Fornix, Brain/pathology ; Gene Expression ; Heterozygote ; Hippocampus/metabolism ; Hippocampus/pathology ; Histone Chaperones/antagonists & inhibitors ; Histone Chaperones/deficiency ; Histone Chaperones/metabolism ; Humans ; Mice ; Neurodevelopmental Disorders/metabolism ; Neurodevelopmental Disorders/pathology ; Neurogenesis/genetics ; Neurons/pathology ; Primary Cell Culture ; RNA, Small Interfering/genetics ; RNA, Small Interfering/metabolism ; Transcription Factors/antagonists & inhibitors ; Transcription Factors/deficiency ; Transcription Factors/metabolism

المؤلفون: Vuillaume ML; Service de Génétique, Centre Hospitalier Universitaire de Tours, France; UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Cogné B; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Nantes, France; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France., Jeanne M; Service de Génétique, Centre Hospitalier Universitaire de Tours, France; UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Direction de La Recherche Fondamentale, CEA, Evry, France., Ung DC; UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Quinquis D; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Nantes, France., Besnard T; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Nantes, France., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, Direction de La Recherche Fondamentale, CEA, Evry, France., Redon R; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France., Bézieau S; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Nantes, France; INSERM, CNRS, UNIV Nantes, l'Institut du Thorax, Nantes, France., Laumonnier F; Service de Génétique, Centre Hospitalier Universitaire de Tours, France; UMR 1253, iBrain, Université de Tours, Inserm, Tours, France., Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, France; UMR 1253, iBrain, Université de Tours, Inserm, Tours, France. Electronic address: annick.toutain@univ-tours.fr.

المصدر: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2018 Oct; Vol. 485, pp. 218-223. Date of Electronic Publication: 2018 Jun 30.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

مواضيع طبية MeSH: Whole Genome Sequencing*, Forkhead Transcription Factors/*genetics , Intellectual Disability/*genetics , Repressor Proteins/*genetics, Adult ; Autism Spectrum Disorder ; Female ; Humans ; Language Disorders ; Mutation ; RNA, Messenger/genetics ; Seizures

المؤلفون: Ung DC; University François-Rabelais, UMR Imaging and Brain, Tours, France.; Institut National de la Santé et de la Recherche Médicale, U930, Tours, France., Iacono G; Department of Molecular Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands., Méziane H; CELPHEDIA PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France., Blanchard E; University François-Rabelais, UMR Imaging and Brain, Tours, France.; Institut National de la Santé et de la Recherche Médicale, U966, Tours, France.; Centre Hospitalier Régional Universitaire, Tours, France., Papon MA; University François-Rabelais, UMR Imaging and Brain, Tours, France.; Institut National de la Santé et de la Recherche Médicale, U930, Tours, France., Selten M; Department of Cognitive Neuroscience, Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., van Rhijn JR; Department of Cognitive Neuroscience, Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Montjean R; Institut Cochin, 24 rue du Fg St Jacques, Paris, France.; Institut National de la Santé et de la Recherche Médicale, U1016 Paris, France.; Centre National de la Recherche Scientifique, UMR8104, Paris, France.; University Paris Descartes, Institut Cochin, Paris, France., Rucci J; Institut Cochin, 24 rue du Fg St Jacques, Paris, France.; Institut National de la Santé et de la Recherche Médicale, U1016 Paris, France.; Centre National de la Recherche Scientifique, UMR8104, Paris, France.; University Paris Descartes, Institut Cochin, Paris, France., Martin S; Université Côte d'Azur, INSERM, CNRS, IPMC, France., Fleet A; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Birling MC; CELPHEDIA PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France., Marouillat S; University François-Rabelais, UMR Imaging and Brain, Tours, France.; Institut National de la Santé et de la Recherche Médicale, U930, Tours, France., Roepman R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Selloum M; CELPHEDIA PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France., Lux A; CELPHEDIA PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France., Thépault RA; University François-Rabelais, UMR Imaging and Brain, Tours, France.; Institut National de la Santé et de la Recherche Médicale, U930, Tours, France., Hamel P; Department of Laboratory Medicine and Pathobiology, Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Mittal K; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Vincent JB; Molecular Neuropsychiatry & Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Dorseuil O; Institut Cochin, 24 rue du Fg St Jacques, Paris, France.; Institut National de la Santé et de la Recherche Médicale, U1016 Paris, France.; Centre National de la Recherche Scientifique, UMR8104, Paris, France.; University Paris Descartes, Institut Cochin, Paris, France., Stunnenberg HG; Department of Molecular Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands., Billuart P; Institut Cochin, 24 rue du Fg St Jacques, Paris, France.; Institut National de la Santé et de la Recherche Médicale, U1016 Paris, France.; Centre National de la Recherche Scientifique, UMR8104, Paris, France.; University Paris Descartes, Institut Cochin, Paris, France., Nadif Kasri N; Department of Cognitive Neuroscience, Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hérault Y; CELPHEDIA PHENOMIN, Institut Clinique de la Souris (ICS), CNRS, INSERM, University of Strasbourg, Illkirch-Graffenstaden, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire Illkirch, Illkirch-Graffenstaden, France.; University of Strasbourg, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France., Laumonnier F; University François-Rabelais, UMR Imaging and Brain, Tours, France.; Institut National de la Santé et de la Recherche Médicale, U930, Tours, France.; Centre Hospitalier Régional Universitaire, Tours, France.

المصدر: Molecular psychiatry [Mol Psychiatry] 2018 May; Vol. 23 (5), pp. 1356-1367. Date of Electronic Publication: 2017 Apr 18.

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

بيانات الدورية: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Cognitive Dysfunction/*metabolism , Membrane Proteins/*deficiency , Synapses/*metabolism, Animals ; Basic Helix-Loop-Helix Transcription Factors/metabolism ; Cognition/physiology ; Cognitive Dysfunction/genetics ; Disks Large Homolog 4 Protein/genetics ; Disks Large Homolog 4 Protein/metabolism ; Guanylate Kinases/genetics ; Guanylate Kinases/metabolism ; Hippocampus/metabolism ; Male ; Membrane Proteins/genetics ; Membrane Proteins/metabolism ; Mice ; Mice, Inbred C57BL ; Neurons/metabolism ; Signal Transduction ; Synapses/genetics ; Synaptic Transmission