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: Papon MA; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France., Le Feuvre Y; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France., Barreda-Gómez G; Department of Pharmacology, University of the Basque Country UPV/EHU, Leioa, Spain., Favereaux A; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France., Farrugia F; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France., Bouali-Benazzouz R; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France., Nagy F; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France., Rodríguez-Puertas R; Department of Pharmacology, University of the Basque Country UPV/EHU, Leioa, Spain., Landry M; Institut Interdisciplinaire de Neurosciences, University of Bordeaux, Bordeaux, France.; CNRS UMR 5297, Institut Interdisciplinaire de Neurosciences, Bordeaux, France.

المصدر: Frontiers in cellular neuroscience [Front Cell Neurosci] 2020 Jul 15; Vol. 14, pp. 214. Date of Electronic Publication: 2020 Jul 15 (Print Publication: 2020).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477935 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5102 (Print) Linking ISSN: 16625102 NLM ISO Abbreviation: Front Cell Neurosci Subsets: PubMed not MEDLINE

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

المؤلفون: El Khoury NB; Université Laval, Faculté de Médecine, Département de Psychiatrie et Neurosciences, Québec, QC, Canada; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Gratuze M; Université Laval, Faculté de Médecine, Département de Psychiatrie et Neurosciences, Québec, QC, Canada; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Petry F; Université Laval, Faculté de Médecine, Département de Psychiatrie et Neurosciences, Québec, QC, Canada; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Papon MA; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Julien C; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Marcouiller F; Université Laval, Faculté de Médecine, Département de Psychiatrie et Neurosciences, Québec, QC, Canada; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Morin F; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Nicholls SB; MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Alzheimer's Disease Research Laboratory, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA., Calon F; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada; Université Laval, Faculté de Pharmacie, Québec, Canada., Hébert SS; Université Laval, Faculté de Médecine, Département de Psychiatrie et Neurosciences, Québec, QC, Canada; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada., Marette A; Centre de Recherche de l'Institut Universitaire de Cardiologie et de Pneumologie de Québec, Quebec City, QC, Canada., Planel E; Université Laval, Faculté de Médecine, Département de Psychiatrie et Neurosciences, Québec, QC, Canada; Centre de recherche du Centre Hospitalier de l'Université Laval de Québec, Axe Neurosciences, Québec, QC, Canada. Electronic address: emmanuel@planel.org.

المصدر: Neurobiology of disease [Neurobiol Dis] 2016 Apr; Vol. 88, pp. 55-65. Date of Electronic Publication: 2016 Jan 09.

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

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

مواضيع طبية MeSH: Hypothermia, Induced*, Aging/*physiology , Diabetes Mellitus, Type 2/*therapy , tau Proteins/*metabolism, Analysis of Variance ; Animals ; Blood Glucose ; Body Weight/genetics ; Body Weight/physiology ; Brain/metabolism ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/pathology ; Disease Models, Animal ; Gene Expression Regulation/genetics ; Glycemic Index ; Insulin Resistance/genetics ; Leptin/deficiency ; Leptin/genetics ; MAP Kinase Kinase 4/metabolism ; Male ; Mice ; Mice, Mutant Strains ; Phosphorylation/genetics ; Signal Transduction/genetics

المؤلفون: Whittington RA; Department of Anesthesiology, Columbia University, College of Physicians and Surgeons, New York, NY, USA. Electronic address: raw9@cumc.columbia.edu., Virág L; Department of Anesthesiology, Columbia University, College of Physicians and Surgeons, New York, NY, USA., Gratuze M; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Petry FR; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Noël A; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Poitras I; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Truchetti G; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Marcouiller F; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Papon MA; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., El Khoury N; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Wong K; Department of Anesthesiology, Columbia University, College of Physicians and Surgeons, New York, NY, USA., Bretteville A; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada., Morin F; Neurosciences, CHUL, CRCHU, Québec, Québec, Canada., Planel E; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval, Québec, Québec, Canada; Neurosciences, CHUL, CRCHU, Québec, Québec, Canada.

المصدر: Neurobiology of aging [Neurobiol Aging] 2015 Aug; Vol. 36 (8), pp. 2414-28. Date of Electronic Publication: 2015 May 09.

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: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

مواضيع طبية MeSH: Dexmedetomidine/*adverse effects , Hypnotics and Sedatives/*adverse effects , tau Proteins/*metabolism, Adrenergic alpha-2 Receptor Antagonists/pharmacology ; Animals ; Cells, Cultured ; Dexmedetomidine/administration & dosage ; Dexmedetomidine/antagonists & inhibitors ; Dose-Response Relationship, Drug ; Hippocampus/metabolism ; Humans ; Hypnotics and Sedatives/administration & dosage ; Hypothermia, Induced ; In Vitro Techniques ; Infusions, Intravenous ; Mice, Inbred C57BL ; Phosphorylation/drug effects ; Protein Aggregation, Pathological/chemically induced ; Spatial Memory/drug effects

المؤلفون: Iqbal Z; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Papon MA; INSERM U930, Tours 37032, France; University François-Rabelais, UMR 930 'Imaging and Brain,' Tours 37032, France., Musante L; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany., Benevento M; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Hu H; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany., Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Wissink-Lindhout WM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Vulto-van Silfhout AT; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Vissers LE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., de Brouwer AP; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Marouillat S; INSERM U930, Tours 37032, France; University François-Rabelais, UMR 930 'Imaging and Brain,' Tours 37032, France., Wienker TF; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany., Ropers HH; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany., Kahrizi K; Social Welfare and Rehabilitation University, Tehran 19857-13834, Iran., Nadif Kasri N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., Najmabadi H; Social Welfare and Rehabilitation University, Tehran 19857-13834, Iran., Laumonnier F; INSERM U930, Tours 37032, France; University François-Rabelais, UMR 930 'Imaging and Brain,' Tours 37032, France; Department of Human Genetics, Centre Hospitalier Régional Universitaire, Tours 37044, France., Kleefstra T; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address: hans.vanbokhoven@radboudumc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2015 Mar 05; Vol. 96 (3), pp. 386-96. Date of Electronic Publication: 2015 Feb 19.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Homozygote*, Amino Acid Transport Systems/*genetics , Intellectual Disability/*genetics , Mental Disorders/*genetics , Plasma Membrane Neurotransmitter Transport Proteins/*genetics , Speech Disorders/*genetics , Tremor/*genetics, Amino Acid Sequence ; Animals ; Chromosome Mapping ; DNA Copy Number Variations ; Exome ; Female ; Hippocampus/cytology ; Hippocampus/metabolism ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; Transfection ; Young Adult

المؤلفون: El Khoury NB; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval Québec, QC, Canada ; Axe Neurosciences, Centre Hospitalier de l'Université Laval Québec, QC, Canada., Gratuze M; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval Québec, QC, Canada ; Axe Neurosciences, Centre Hospitalier de l'Université Laval Québec, QC, Canada., Papon MA; Axe Neurosciences, Centre Hospitalier de l'Université Laval Québec, QC, Canada., Bretteville A; Axe Neurosciences, Centre Hospitalier de l'Université Laval Québec, QC, Canada., Planel E; Département de Psychiatrie et Neurosciences, Faculté de Médecine, Université Laval Québec, QC, Canada ; Axe Neurosciences, Centre Hospitalier de l'Université Laval Québec, QC, Canada.

المصدر: Frontiers in cellular neuroscience [Front Cell Neurosci] 2014 Feb 11; Vol. 8, pp. 22. Date of Electronic Publication: 2014 Feb 11 (Print Publication: 2014).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477935 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5102 (Print) Linking ISSN: 16625102 NLM ISO Abbreviation: Front Cell Neurosci Subsets: PubMed not MEDLINE

المؤلفون: Dangoumau A; UMR INSERM U930, Université François-Rabelais, Tours, PRES Centre - Val de Loire Université, France., Verschueren A, Hammouche E, Papon MA, Blasco H, Cherpi-Antar C, Pouget J, Corcia P, Andres CR, Vourc'h P

المصدر: Neurobiology of aging [Neurobiol Aging] 2014 Jan; Vol. 35 (1), pp. 266.e1-4. Date of Electronic Publication: 2013 Aug 15.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Amyotrophic Lateral Sclerosis/*genetics , Superoxide Dismutase/*genetics, Age Factors ; Amyotrophic Lateral Sclerosis/diagnosis ; Animals ; Cell Aggregation/genetics ; Cell Survival/genetics ; Cells, Cultured ; Disease Progression ; Humans ; Male ; Mice ; Middle Aged ; Phenotype ; Superoxide Dismutase-1 ; Time Factors

المؤلفون: Hirata H; Center for Frontier Research, National Institute of Genetics, Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Mishima 411-8540, Japan., Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM

المصدر: American journal of human genetics [Am J Hum Genet] 2013 May 02; Vol. 92 (5), pp. 681-95. Date of Electronic Publication: 2013 Apr 25.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Abnormalities, Multiple/*genetics , Arthrogryposis/*genetics , Carrier Proteins/*genetics , Genetic Predisposition to Disease/*genetics , Intellectual Disability/*genetics , Neuronal Plasticity/*genetics , Zinc Fingers/*genetics, Abnormalities, Multiple/pathology ; Animals ; Arthrogryposis/pathology ; Cells, Cultured ; Chromosome Breakpoints ; Comparative Genomic Hybridization ; Female ; Haplotypes/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Immunoblotting ; In Situ Hybridization ; Intellectual Disability/pathology ; Intracellular Signaling Peptides and Proteins ; Male ; Mice ; Mutation/genetics ; Nuclear Proteins ; Pedigree ; Synapses/genetics ; Zebrafish

المؤلفون: Papon MA; Centre Hospitalier de l'Université Laval, Axe Neurosciences, Québec, Canada., El Khoury NB, Marcouiller F, Julien C, Morin F, Bretteville A, Petry FR, Gaudreau S, Amrani A, Mathews PM, Hébert SS, Planel E

المصدر: Diabetes [Diabetes] 2013 Feb; Vol. 62 (2), pp. 609-17. Date of Electronic Publication: 2012 Sep 06.

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

بيانات الدورية: Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1939-327X (Electronic) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 1/*metabolism , Protein Phosphatase 2/*metabolism , tau Proteins/*metabolism, Alzheimer Disease/metabolism ; Animals ; Brain/metabolism ; Brain Chemistry ; Disease Models, Animal ; Female ; Hypothermia ; Mice ; Mice, Inbred NOD ; Neurofibrillary Tangles/metabolism ; Phosphorylation ; Protein Isoforms/metabolism