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05/2017, ISBN 0128044616, 500
Fragile X Syndrome: From Genetics to Targeted Treatment provides a structured overview of the molecular and clinical background of the disorder as well as... 
Fragile X syndrome
eBook
Neuron, ISSN 0896-6273, 10/2012, Volume 76, Issue 2, pp. 325 - 337
Fragile X syndrome (FXS) is the leading inherited cause of autism and intellectual disability. Aberrant synaptic translation has been implicated in the... 
MAMMALIAN TARGET | RAPAMYCIN SIGNALING PATHWAY | FMR1 KNOCKOUT MOUSE | MESSENGER-RNA | MEMORY | LONG-TERM DEPRESSION | PHOSPHOINOSITIDE 3-KINASE-AKT-MAMMALIAN TARGET | TRANSLATION | MENTAL-RETARDATION PROTEIN | NEUROSCIENCES | MTOR | Electric Stimulation | Fragile X Syndrome - pathology | Male | Fragile X Mental Retardation Protein - metabolism | Synapses - genetics | Recognition (Psychology) - physiology | Phosphorylation - genetics | TOR Serine-Threonine Kinases - genetics | Ribosomal Protein S6 Kinases, 70-kDa - deficiency | Excitatory Postsynaptic Potentials - genetics | Disease Models, Animal | Membrane Potentials - drug effects | Synapses - drug effects | Maze Learning - physiology | Ribosomal Protein S6 Kinases, 70-kDa - metabolism | Dendritic Spines - physiology | Ribosomal Protein S6 Kinases, 70-kDa - genetics | Behavior, Animal - physiology | Mice, Transgenic | Hippocampus - pathology | Mutation - genetics | Patch-Clamp Techniques | Phenotype | Analysis of Variance | Mice | Long-Term Synaptic Depression - genetics | Neurons - pathology | Membrane Potentials - genetics | Fragile X Syndrome - physiopathology | Extracellular Signal-Regulated MAP Kinases - metabolism | Long-Term Synaptic Depression - drug effects | Excitatory Postsynaptic Potentials - drug effects | Extracellular Signal-Regulated MAP Kinases - genetics | Exploratory Behavior - physiology | Neurons - classification | Female | Interpersonal Relations | Fragile X Syndrome - genetics | Gene Expression Regulation - genetics | Mice, Inbred C57BL | Biophysics | Methoxyhydroxyphenylglycol - analogs & derivatives | Methoxyhydroxyphenylglycol - pharmacology | Motor Activity - genetics | Rotarod Performance Test | Animals | Fragile X Syndrome - prevention & control | Dendritic Spines - classification | Fragile X Mental Retardation Protein - genetics | In Vitro Techniques | Depression, Mental | Analysis | Genetic research | Protein biosynthesis | Genetic aspects | Fragile X syndrome | Genetic translation | Proteins | Phosphorylation | Brain research | Kinases | Protein synthesis | Rodents | Index Medicus | Animal models | Translation | Translation initiation | Pattern recognition | Mental retardation | Ribosomal protein S6 kinase | Autism | Dendritic spines | Molecular modelling | Social interactions | Etiology | p70 S6 kinase | Long-term depression | Elongation
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 01/2010, Volume 30, Issue 2, pp. 694 - 702
Fragile X syndrome, the most common form of inherited mental retardation and leading genetic cause of autism, is caused by transcriptional silencing of the... 
COWDEN-SYNDROME | PTEN MUTATION | COMPLEX | PATHWAY | LONG-TERM DEPRESSION | MOUSE MODEL | KINASE | METABOTROPIC GLUTAMATE RECEPTORS | MENTAL-RETARDATION PROTEIN | SYNAPTIC PLASTICITY | NEUROSCIENCES | Long-Term Synaptic Depression - genetics | Fragile X Syndrome - pathology | Phosphatidylinositol 3-Kinases - metabolism | Receptors, Metabotropic Glutamate - metabolism | Long-Term Synaptic Depression - drug effects | Phosphoproteins - metabolism | Excitatory Postsynaptic Potentials - drug effects | Phosphorylation - genetics | Cognition Disorders - etiology | CA1 Region, Hippocampal - metabolism | Oncogene Protein v-akt - metabolism | Eukaryotic Initiation Factor-4A - genetics | Excitatory Postsynaptic Potentials - genetics | Disease Models, Animal | Fragile X Syndrome - genetics | Immunoprecipitation - methods | Gene Expression Regulation - genetics | Fragile X Syndrome - metabolism | Signal Transduction - genetics | Phosphoproteins - genetics | Sirolimus - metabolism | Serine - metabolism | Fragile X Syndrome - complications | Mice, Knockout | Gene Expression Regulation - drug effects | Carrier Proteins - genetics | Methoxyhydroxyphenylglycol - analogs & derivatives | Methoxyhydroxyphenylglycol - pharmacology | Animals | Carrier Proteins - metabolism | Signal Transduction - physiology | Fragile X Mental Retardation Protein - genetics | Mice | Eukaryotic Initiation Factor-4A - metabolism | In Vitro Techniques | Index Medicus
Journal Article
Neuron, ISSN 0896-6273, 05/2013, Volume 78, Issue 3, pp. 440 - 455
Journal Article
Neuron, ISSN 0896-6273, 2007, Volume 56, Issue 6, pp. 955 - 962
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2011, Volume 6, Issue 10, pp. e26203 - e26203
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity,... 
METHYLATION | ALLELES | REPEAT EXPANSION | PROTEIN | INSTABILITY | MESSENGER-RNA | MECHANISM | MULTIDISCIPLINARY SCIENCES | INVOLVEMENT | DIFFERENTIATION | EXPRESSION | Neurons - pathology | Epigenesis, Genetic | Humans | Middle Aged | Nervous System - metabolism | Child, Preschool | Male | Fragile X Mental Retardation Protein - metabolism | RNA, Messenger - metabolism | Case-Control Studies | Cell Differentiation - genetics | Nervous System - growth & development | Nervous System - pathology | Adult | Neurons - metabolism | Cellular Reprogramming - genetics | Infant, Newborn | Fibroblasts - metabolism | Induced Pluripotent Stem Cells - metabolism | Fragile X Syndrome - genetics | Induced Pluripotent Stem Cells - pathology | RNA, Messenger - genetics | Cells, Cultured | DNA Methylation - genetics | Fibroblasts - pathology | Mutation - genetics | Models, Biological | CpG Islands - genetics | Trinucleotide Repeat Expansion - genetics | Mosaicism | Fragile X Mental Retardation Protein - genetics | Tissue Donors | Epigenetic inheritance | Autism | Analysis | Genes | Stem cells | Genetic aspects | Fragile X syndrome | Methylation | Mental illness | Neurophysiology | Cell culture | Synaptogenesis | Disease | Pathogenesis | Hyperactivity | Intellectual disabilities | Cognitive ability | Cases (containers) | Mental retardation | Medical schools | Neuronal-glial interactions | Proteins | Fragile X mental retardation protein | Cell cycle | Fibroblasts | DNA methylation | Ataxia | Anxiety | Chromosomes | CpG islands | Neurons | Cloning | Attention | Gene expression | Patients | Hospitals | Epigenetics | Genetic research | Mutation | Aberration | Differentiation | Pluripotency | FMR1 protein | Inhibitory postsynaptic potentials | Index Medicus
Journal Article
Cell, ISSN 0092-8674, 02/2018, Volume 172, Issue 5, pp. 979 - 992.e6
Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males, is caused by silencing of the gene associated with hypermethylation...