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Neuron, ISSN 0896-6273, 01/2013, Volume 77, Issue 2, pp. 259 - 273
Journal Article
Science, ISSN 0036-8075, 5/2008, Volume 320, Issue 5880, pp. 1224 - 1229
Journal Article
Nature, ISSN 0028-0836, 11/2010, Volume 468, Issue 7321, pp. 263 - 269
Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several... 
GLUTAMIC-ACID DECARBOXYLASE | GENE | 67 KDA | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | MUTATION | NEURONAL MECP2 | SCHIZOPHRENIA | MICE | CPG-BINDING PROTEIN-2 | YOUNG GIRLS | Autistic Disorder - physiopathology | gamma-Aminobutyric Acid - metabolism | Methyl-CpG-Binding Protein 2 - metabolism | Male | Psychomotor Disorders - complications | Methyl-CpG-Binding Protein 2 - deficiency | Compulsive Behavior - physiopathology | Neurons - metabolism | Disease Models, Animal | Autistic Disorder - genetics | Signal Transduction | Compulsive Behavior - genetics | Genotype | Mice, Transgenic | Survival Rate | Hippocampus - pathology | Rett Syndrome - physiopathology | Self-Injurious Behavior - genetics | Phenotype | Neuronal Plasticity | Long-Term Potentiation | Stereotypic Movement Disorder - genetics | Compulsive Behavior - complications | Glutamate Decarboxylase - metabolism | Mice | Hippocampus - physiopathology | Autistic Disorder - pathology | Rett Syndrome - complications | Neural Inhibition | Stereotypic Movement Disorder - pathology | Reflex, Startle - genetics | Electroencephalography | Methyl-CpG-Binding Protein 2 - genetics | Synaptic Transmission | Psychomotor Disorders - genetics | Self-Injurious Behavior - complications | Psychomotor Disorders - physiopathology | Inhibitory Postsynaptic Potentials | Stereotypic Movement Disorder - physiopathology | Brain - cytology | Homeodomain Proteins - genetics | Stereotypic Movement Disorder - complications | Self-Injurious Behavior - physiopathology | Animals | Rett Syndrome - pathology | Vesicular Inhibitory Amino Acid Transport Proteins - genetics | Presynaptic Terminals - metabolism | Autistic Disorder - complications | Respiration | Rett Syndrome - genetics | Autism | Care and treatment | Rett syndrome | Schizophrenia | GABA | Genetic aspects | Diagnosis | Cognition disorders | Seizures (Medicine) | Health aspects | Studies | Anxieties | Social interaction | Neurons | Rodents | Bipolar disorder | Behavior | Gene expression
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 527 - 536
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 02/2019, Volume 116, Issue 9, pp. 3662 - 3667
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused... 
BCKDK | Ubiquitination | Intellectual disability | UBE3B | Autism spectrum disorder | AUTISM | DE-NOVO MUTATIONS | ubiquitination | MULTIDISCIPLINARY SCIENCES | KAUFMAN OCULOCEREBROFACIAL SYNDROME | SPECTRUM | autism spectrum disorder | intellectual disability | CHILDREN | Limb Deformities, Congenital - genetics | Protein Kinases - genetics | Microcephaly - genetics | Humans | Limb Deformities, Congenital - physiopathology | Male | Intellectual Disability - genetics | Facies | Adult | Microcephaly - physiopathology | Language Development Disorders - physiopathology | Child | Language Development Disorders - genetics | Brain - physiopathology | Ubiquitin - genetics | Eye Abnormalities - genetics | Mice, Knockout | Intellectual Disability - physiopathology | Phenotype | Animals | Metabolic Networks and Pathways | Adolescent | Eye Abnormalities - physiopathology | Mice | Mutation | Ubiquitin-Protein Ligases - genetics | Tricarboxylic acid cycle | Growth rate | Intellectual disabilities | Liver | Chain branching | Cortex (somatosensory) | Neurodevelopmental disorders | Mitochondria | Pathways | Metabolites | Grip strength | Ubiquitin-protein ligase | Hypoplasia | Muscles | Metabolism | Patients | Substrates | Corpus callosum | Skeletal muscle | Hereditary diseases | Morphology | Speech | Metabolic pathways | Electron transport | Synapses | Biological Sciences
Journal Article
by De Rubeis, Silvia and He, Xin and Goldberg, Arthur P and Poultney, Christopher S and Samocha, Kaitlin and Cicek, A. Ercument and Kou, Yan and Liu, Li and Fromer, Menachem and Walker, Susan and Singh, Tarjinder and Klei, Lambertus and Kosmicki, Jack and Fu, Shih-Chen and Aleksic, Branko and Biscaldi, Monica and Bolton, Patrick F and Brownfeld, Jessica M and Cai, Jinlu and Campbell, Nicholas G and Carracedo, Angel and Chahrour, Maria H and Chiocchetti, Andreas G and Coon, Hilary and Crawford, Emily L and Crooks, Lucy and Curran, Sarah R and Dawson, Geraldine and Duketis, Eftichia and Fernandez, Bridget A and Gallagher, Louise and Geller, Evan and Guter, Stephen J and Hill, R. Sean and Ionita-Laza, Iuliana and Gonzalez, Patricia Jimenez and Kilpinen, Helena and Klauck, Sabine M and Kolevzon, Alexander and Lee, Irene and Lei, Jing and Lehtimäki, Terho and Lin, Chiao-Feng and Ma'ayan, Avi and Marshall, Christian R and McInnes, Alison L and Neale, Benjamin and Owen, Michael J and Ozaki, Norio and Parellada, Mara and Parr, Jeremy R and Purcell, Shaun and Puura, Kaija and Rajagopalan, Deepthi and Rehnström, Karola and Reichenberg, Abraham and Sabo, Aniko and Sachse, Michael and Sanders, Stephan J and Schafer, Chad and Schulte-Rüther, Martin and Skuse, David and Stevens, Christine and Szatmari, Peter and Tammimies, Kristiina and Valladares, Otto and Voran, Annette and Wang, Li-San and Weiss, Lauren A and Willsey, A. Jeremy and Yu, Timothy W and Yuen, Ryan K. C and Cook, Edwin H and Freitag, Christine M and Gill, Michael and Hultman, Christina M and Lehner, Thomas and Palotie, Aarno and Schellenberg, Gerard D and Sklar, Pamela and State, Matthew W and Sutcliffe, James S and Walsh, Christopher A and Scherer, Stephen W and Zwick, Michael E and Barrett, Jeffrey C and Cutler, David J and Roeder, Kathryn and Devlin, Bernie and Daly, Mark J and Buxbaum, Joseph D and Homozygosity Mapping Collaborative and DDD Study and Autism Sequencing Consortium and UK10K Consortium and Homozygosity Mapping Collaborative for Autism and The Autism Sequencing Consortium and The DDD Study
Nature, ISSN 0028-0836, 11/2014, Volume 515, Issue 7526, pp. 209 - 215
Journal Article