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rett syndrome (25) 25
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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
Epilepsia, ISSN 0013-9580, 06/2015, Volume 56, Issue 6, pp. 841 - 848
Journal Article
Journal Article
Journal of Child Psychology and Psychiatry, ISSN 0021-9630, 11/2008, Volume 49, Issue 11, pp. 1193 - 1200
Background:  Restricted repetitive behaviors (RRBs) are a core feature of autism and consist of a variety of behaviors, ranging from motor stereotypies to... 
Autism | factor analysis | repetitive behavior | Autism Diagnostic Interview‐Revised | Factor analysis | Repetitive behavior | Autism Diagnostic Interview-Revised | INTERESTS | DIAGNOSTIC INTERVIEW | PSYCHIATRY | CHROMOSOME-2 | PSYCHOLOGY, DEVELOPMENTAL | PSYCHOLOGY | CHILDREN | INDIVIDUALS | PHENOTYPIC HOMOGENEITY | LINKAGE | Behavior Patterns | Correlation | Diagnostic Tests | Factor Analysis | Motor Reactions | Disabilities | Stereotypes | Communication Problems | Measures (Individuals) | Familiarity | Interpersonal Competence | Symptoms (Individual Disorders) | Autistic Disorder - classification | Stereotypic Movement Disorder - epidemiology | Age Distribution | Intelligence | Language Disorders - psychology | Humans | Child, Preschool | Infant | Male | Young Adult | Social Behavior | Adult | Female | Stereotypic Movement Disorder - psychology | Genetic Predisposition to Disease - epidemiology | Child | North Carolina - epidemiology | Autistic Disorder - genetics | Genetic Predisposition to Disease - psychology | Severity of Illness Index | Genetic Predisposition to Disease - genetics | Language Disorders - epidemiology | Factor Analysis, Statistical | Autistic Disorder - epidemiology | Autistic Disorder - psychology | Adolescent | Stereotypic Movement Disorder - genetics | Interview, Psychological - methods | Discriminant analysis | Usage | Behavioral assessment | Diagnosis | Correlation analysis | Classification
Journal Article
Journal Article
Developmental medicine and child neurology, ISSN 0012-1622, 2012, Volume 54, Issue 10, pp. 925 - 931
Aim The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with PittHopkins syndrome... 
INTELLECTUAL DISABILITY | AUTISM | MENTAL-RETARDATION | INTERVIEW | PHENOTYPE | DISORDERS | PEDIATRICS | TRANSCRIPTION FACTOR | CLINICAL NEUROLOGY | INTERSTITIAL DELETION | TCF4 MUTATIONS | HAPLOINSUFFICIENCY | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Hyperventilation - diagnosis | Intellectual Disability - genetics | Young Adult | Language Development Disorders - psychology | Netherlands | Stereotypic Movement Disorder - diagnosis | DNA Mutational Analysis | Hyperventilation - psychology | Language Development Disorders - diagnosis | Child Development Disorders, Pervasive - diagnosis | Facies | Female | Stereotypic Movement Disorder - psychology | Child | Developmental Disabilities - diagnosis | Cognition Disorders - psychology | Child Behavior Disorders - psychology | Diagnosis, Differential | Child Behavior Disorders - diagnosis | Transcription Factor 4 | Hyperventilation - genetics | Language Development Disorders - genetics | Cognition Disorders - genetics | Transcription Factors - genetics | Neuropsychological Tests | Cognition Disorders - diagnosis | Belgium | Child Development Disorders, Pervasive - psychology | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adolescent | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Stereotypic Movement Disorder - genetics | Intellectual Disability - psychology | Child Behavior Disorders - genetics | Developmental Disabilities - psychology
Journal Article
Neurology, ISSN 0028-3878, 01/2011, Volume 76, Issue 3, pp. 260 - 264
Journal Article
Molecular Psychiatry, ISSN 1359-4184, 10/2016, Volume 21, Issue 10, pp. 1417 - 1433
Journal Article
Journal of clinical investigation, ISSN 0021-9738, 2015, Volume 125, Issue 5, pp. 2069 - 2076
Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of function of the maternal ubiquitin protein ligase E3A (UBE3A) allele.... 
MEDICINE, RESEARCH & EXPERIMENTAL | MEMORY | MOUSE MODEL | MICE | PHENOTYPES | LONG-TERM POTENTIATION | INHIBITORS | MUTATIONS | DEFICITS | DISC1 | REVERSAL | Genomic Imprinting | Age Factors | Male | Epilepsy - physiopathology | Ubiquitin-Protein Ligases - physiology | Angelman Syndrome - therapy | Cerebral Cortex - physiopathology | Cerebellum - embryology | Anxiety - therapy | Gene Expression Regulation, Developmental | Angelman Syndrome - genetics | Epilepsy - genetics | Female | Disease Models, Animal | Recombinant Fusion Proteins - biosynthesis | Stereotyped Behavior - physiology | Hippocampus - embryology | Genes, Synthetic | Anxiety - physiopathology | Cerebellum - physiopathology | Ubiquitin-Protein Ligases - biosynthesis | Anxiety - genetics | Phenotype | Animals | Movement Disorders - physiopathology | Cerebral Cortex - embryology | Movement Disorders - therapy | Neuronal Plasticity | Angelman Syndrome - embryology | Tamoxifen - pharmacology | Recombinant Fusion Proteins - genetics | Ubiquitin-Protein Ligases - deficiency | Angelman Syndrome - physiopathology | Mice | Movement Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Hippocampus - physiopathology | Epilepsy - therapy | Physiological aspects | Research | Ligases | Genes | Proteins | Studies | Software | Behavior | Gene expression | Epilepsy | Development | Genetics | Neuroscience
Journal Article
Movement Disorders, ISSN 0885-3185, 02/2010, Volume 25, Issue 3, pp. 282 - 288
Stereotypic hand movements are a feature of Rett Syndrome but few studies have observed their nature systematically. Video data in familiar settings were... 
stereotypic movement disorder | video recording | hand function | Rett syndrome | genotype | Genotype | Hand function | Stereotypic movement disorder | Video recording | BEHAVIOR | MECP2 MUTATIONS |