المؤلفون: Bruinsma CF; Department of Neuroscience, ENCORE Expertise Centre for Neurodevelopmental Disorders, and., Savelberg SM; Department of Neuroscience., Kool MJ; Department of Neuroscience., Jolfaei MA; Department of Neuroscience., Van Woerden GM; Department of Neuroscience, ENCORE Expertise Centre for Neurodevelopmental Disorders, and., Baarends WM; Department of Developmental Biology, Erasmus MC, Wytemaweg 80, Rotterdam 3015 CN, The Netherlands., Elgersma Y; Department of Neuroscience, ENCORE Expertise Centre for Neurodevelopmental Disorders, and y.elgersma@erasmusmc.nl.

المصدر: Human molecular genetics [Hum Mol Genet] 2016 Jan 01; Vol. 25 (1), pp. 1-8. Date of Electronic Publication: 2015 Oct 16.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Learning/*physiology , Long-Term Synaptic Depression/*physiology , Memory/*physiology , Neuronal Plasticity/*physiology , Ubiquitin-Conjugating Enzymes/*physiology, Animals ; Genetic Diseases, X-Linked/genetics ; Hippocampus/physiology ; Intellectual Disability/genetics ; Long-Term Potentiation ; Male ; Mice ; Mice, Knockout ; Mutation ; Receptors, Metabotropic Glutamate/metabolism ; Social Behavior ; Synaptic Transmission/physiology ; Ubiquitin-Conjugating Enzymes/deficiency ; Ubiquitin-Conjugating Enzymes/genetics

المؤلفون: Bruinsma CF, Schonewille M, Gao Z, Aronica EM, Judson MC, Philpot BD, Hoebeek FE, van Woerden GM, De Zeeuw CI, Elgersma Y

المصدر: The Journal of clinical investigation [J Clin Invest] 2015 Nov 02; Vol. 125 (11), pp. 4305-15. Date of Electronic Publication: 2015 Oct 20.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Disease Models, Animal*, Angelman Syndrome/*physiopathology , Cerebellum/*pathology , Gait Disorders, Neurologic/*genetics , Ubiquitin-Protein Ligases/*deficiency, Angelman Syndrome/pathology ; Animals ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/antagonists & inhibitors ; Cerebellum/physiopathology ; Female ; Gait Disorders, Neurologic/physiopathology ; Humans ; Learning Disabilities/genetics ; Learning Disabilities/physiopathology ; Locomotion ; Male ; Mice ; Mice, Inbred C57BL ; Phosphorylation ; Protein Processing, Post-Translational ; Psychomotor Performance ; Purkinje Cells/pathology ; Purkinje Cells/physiology ; Reflex, Vestibulo-Ocular ; Rotarod Performance Test ; Ubiquitin-Protein Ligases/genetics

المؤلفون: Goorden SM; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Abs E; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Bruinsma CF; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Riemslagh FW; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., van Woerden GM; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands., Elgersma Y; Department of Neuroscience and ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Wytemaweg 80, 3015 CN Rotterdam, The Netherlands y.elgersma@erasmusmc.nl.

المصدر: Human molecular genetics [Hum Mol Genet] 2015 Jun 15; Vol. 24 (12), pp. 3390-8. Date of Electronic Publication: 2015 Mar 10.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Monomeric GTP-Binding Proteins/*genetics , Neuropeptides/*genetics, Animals ; Brain/metabolism ; Brain/physiopathology ; Enzyme Activation ; Gene Expression ; Hippocampus/metabolism ; Learning ; Long-Term Potentiation/genetics ; Maze Learning ; Mechanistic Target of Rapamycin Complex 1 ; Memory ; Mice ; Mice, Knockout ; Monomeric GTP-Binding Proteins/metabolism ; Multiprotein Complexes/metabolism ; Neuronal Plasticity/genetics ; Neurons/metabolism ; Neuropeptides/metabolism ; Phosphorylation ; Ras Homolog Enriched in Brain Protein ; TOR Serine-Threonine Kinases/metabolism

المؤلفون: Silva-Santos S, van Woerden GM, Bruinsma CF, Mientjes E, Jolfaei MA, Distel B, Kushner SA, Elgersma Y

المصدر: The Journal of clinical investigation [J Clin Invest] 2015 May; Vol. 125 (5), pp. 2069-76. Date of Electronic Publication: 2015 Apr 13.

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

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Gene Expression Regulation, Developmental*, Angelman Syndrome/*genetics , Ubiquitin-Protein Ligases/*physiology, Age Factors ; Angelman Syndrome/embryology ; Angelman Syndrome/physiopathology ; Angelman Syndrome/therapy ; Animals ; Anxiety/genetics ; Anxiety/physiopathology ; Anxiety/therapy ; Cerebellum/embryology ; Cerebellum/physiopathology ; Cerebral Cortex/embryology ; Cerebral Cortex/physiopathology ; Disease Models, Animal ; Epilepsy/genetics ; Epilepsy/physiopathology ; Epilepsy/therapy ; Female ; Genes, Synthetic ; Genomic Imprinting ; Hippocampus/embryology ; Hippocampus/physiopathology ; Male ; Mice ; Movement Disorders/genetics ; Movement Disorders/physiopathology ; Movement Disorders/therapy ; Neuronal Plasticity ; Phenotype ; Recombinant Fusion Proteins/biosynthesis ; Recombinant Fusion Proteins/genetics ; Stereotyped Behavior/physiology ; Tamoxifen/pharmacology ; Ubiquitin-Protein Ligases/biosynthesis ; Ubiquitin-Protein Ligases/deficiency ; Ubiquitin-Protein Ligases/genetics

المؤلفون: Abs E; Department of Neuroscience, Erasmus University Medical Center, Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, Rotterdam, the Netherlands., Goorden SM, Schreiber J, Overwater IE, Hoogeveen-Westerveld M, Bruinsma CF, Aganović E, Borgesius NZ, Nellist M, Elgersma Y

المصدر: Annals of neurology [Ann Neurol] 2013 Oct; Vol. 74 (4), pp. 569-79. Date of Electronic Publication: 2013 Sep 10.

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

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy/*genetics , Epilepsy/*metabolism , Gene Expression Regulation/*genetics , Multiprotein Complexes/*metabolism , Sequence Deletion/*genetics , TOR Serine-Threonine Kinases/*metabolism , Tumor Suppressor Proteins/*genetics, Animals ; Carrier Proteins/genetics ; Carrier Proteins/metabolism ; Disease Models, Animal ; Dose-Response Relationship, Drug ; Electroencephalography ; Epilepsy/pathology ; Epilepsy/therapy ; Hippocampus/pathology ; Immunosuppressive Agents/therapeutic use ; Long-Term Potentiation/drug effects ; Long-Term Potentiation/genetics ; Mechanistic Target of Rapamycin Complex 1 ; Mice ; Mice, Transgenic ; Multiprotein Complexes/genetics ; Neurons/drug effects ; Neurons/metabolism ; Neurons/physiology ; Receptors, Estrogen/genetics ; Receptors, Estrogen/metabolism ; Sirolimus/therapeutic use ; TOR Serine-Threonine Kinases/genetics ; Tuberous Sclerosis Complex 1 Protein ; ras Proteins/metabolism