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Publication DateAnnual Review of Genetics, ISSN 0066-4197, 12/2011, Volume 45, Issue 1, pp. 81 - 104
Mutations in more than 450 different genes have been associated with intellectual disability (ID) and related cognitive disorders (CDs), such as autism. It is...
mental retardation | synaptic plasticity | chromatin modification | cytoskeleton | therapy | autism | Autism | Therapy | Cytoskeleton | Mental retardation | Synaptic plasticity | Chromatin modification | RUBINSTEIN-TAYBI-SYNDROME | DNA METHYLATION | COGNITIVE IMPAIRMENT | DEVELOPMENTAL DELAY | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | SCAFFOLDING PROTEIN SHANK3 | MOUSE MODEL | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | Autistic Disorder - genetics | Autistic Disorder - metabolism | Signal Transduction | Chromosomes, Human - genetics | Epigenesis, Genetic | Humans | Genetic Diseases, Inborn - genetics | Spine - metabolism | Cognition Disorders - metabolism | Cognition Disorders - genetics | Chromosomes, Human - metabolism | Gene Regulatory Networks | Intellectual Disability - genetics | Intellectual Disability - metabolism | Intellectual Disability - therapy | Synapses - metabolism | Chromosome Aberrations | Cytoskeletal Proteins - metabolism | Transcription, Genetic | Genetic Diseases, Inborn - metabolism | Cognition Disorders - therapy | Mutation | Genes | Physiological aspects | Genetic aspects | Research | Cognition disorders | Diagnosis | Risk factors
mental retardation | synaptic plasticity | chromatin modification | cytoskeleton | therapy | autism | Autism | Therapy | Cytoskeleton | Mental retardation | Synaptic plasticity | Chromatin modification | RUBINSTEIN-TAYBI-SYNDROME | DNA METHYLATION | COGNITIVE IMPAIRMENT | DEVELOPMENTAL DELAY | LINKED MENTAL-RETARDATION | DE-NOVO MUTATIONS | SCAFFOLDING PROTEIN SHANK3 | MOUSE MODEL | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | Autistic Disorder - genetics | Autistic Disorder - metabolism | Signal Transduction | Chromosomes, Human - genetics | Epigenesis, Genetic | Humans | Genetic Diseases, Inborn - genetics | Spine - metabolism | Cognition Disorders - metabolism | Cognition Disorders - genetics | Chromosomes, Human - metabolism | Gene Regulatory Networks | Intellectual Disability - genetics | Intellectual Disability - metabolism | Intellectual Disability - therapy | Synapses - metabolism | Chromosome Aberrations | Cytoskeletal Proteins - metabolism | Transcription, Genetic | Genetic Diseases, Inborn - metabolism | Cognition Disorders - therapy | Mutation | Genes | Physiological aspects | Genetic aspects | Research | Cognition disorders | Diagnosis | Risk factors
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Loading RightsBiochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine...
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY | OXIDATIVE STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | OXYGEN SPECIES GENERATION | UREA CYCLE DISORDERS | MAGNETIC-RESONANCE-SPECTROSCOPY | RAT-KIDNEY TRANSAMIDINASE | LINKED MENTAL-RETARDATION | ACUTE MYOCARDIAL-INFARCTION | TERM-FOLLOW-UP | ARGININE-GLYCINE AMIDINOTRANSFERASE | Amino Acid Transport Systems, Basic - genetics | Humans | Nerve Tissue Proteins - deficiency | Movement Disorders - diagnosis | Amidinotransferases - genetics | Intellectual Disability - metabolism | Biological Transport, Active | Gyrate Atrophy - enzymology | Amino Acid Metabolism, Inborn Errors - genetics | Intellectual Disability - enzymology | Brain Diseases, Metabolic, Inborn - genetics | Hyperammonemia - diagnosis | Hyperammonemia - genetics | Creatine - genetics | Urea Cycle Disorders, Inborn - metabolism | Creatine - biosynthesis | Gyrate Atrophy - genetics | Plasma Membrane Neurotransmitter Transport Proteins - metabolism | Guanidinoacetate N-Methyltransferase - metabolism | Amidinotransferases - metabolism | Plasma Membrane Neurotransmitter Transport Proteins - genetics | Language Development Disorders - enzymology | Urea Cycle Disorders, Inborn - diagnosis | Energy Metabolism | Urea Cycle Disorders, Inborn - enzymology | Movement Disorders - genetics | Mutation | Ornithine - deficiency | Amino Acid Transport Systems, Basic - metabolism | Amino Acid Metabolism, Inborn Errors - enzymology | S-Adenosylmethionine - metabolism | AMP-Activated Protein Kinases - metabolism | Hyperammonemia - metabolism | Developmental Disabilities - metabolism | Guanidinoacetate N-Methyltransferase - genetics | Ornithine - genetics | Developmental Disabilities - genetics | Language Development Disorders - metabolism | Brain Diseases, Metabolic, Inborn - enzymology | Brain Diseases, Metabolic, Inborn - diagnosis | Intellectual Disability - genetics | Amino Acid Metabolism, Inborn Errors - diagnosis | Amino Acid Metabolism, Inborn Errors - metabolism | Mental Retardation, X-Linked - genetics | Mental Retardation, X-Linked - enzymology | Developmental Disabilities - enzymology | Language Development Disorders - diagnosis | Mental Retardation, X-Linked - diagnosis | Movement Disorders - enzymology | Creatine - metabolism | Hyperammonemia - enzymology | Creatine - deficiency | Gyrate Atrophy - diagnosis | Developmental Disabilities - diagnosis | Speech Disorders - diagnosis | Plasma Membrane Neurotransmitter Transport Proteins - deficiency | Speech Disorders - metabolism | Amidinotransferases - deficiency | Brain Diseases, Metabolic, Inborn - metabolism | Language Development Disorders - genetics | Ornithine - metabolism | Gyrate Atrophy - metabolism | Prenatal Diagnosis | Speech Disorders - genetics | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Amino Acid Transport Systems, Basic - deficiency | Movement Disorders - metabolism | Animals | Urea Cycle Disorders, Inborn - genetics | Guanidinoacetate N-Methyltransferase - deficiency | Intellectual Disability - diagnosis | Movement Disorders - congenital | Speech Disorders - enzymology | Methylation | Mental Retardation, X-Linked - metabolism | Antioxidants | Phosphates | Algorithms | Animal behavior | Physiological aspects | GABA | Glycine | Phosphotransferases | Medical research | Medicine, Experimental | Protein kinases | Life Sciences
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Loading RightsJournal of Medical Genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
BackgroundMicroRNAs (miRNAs) are non-coding gene transcripts involved in post-transcriptional regulation of genes. Recent studies identified miRNAs as...
MESSENGER-RNAS | PROTEIN | MENTAL-RETARDATION | RETT-SYNDROME | GENE | ADULT-MOUSE FOREBRAIN | GENETICS & HEREDITY | TARGETS | LYMPHOBLASTOID CELL-LINES | MICRORNA EXPRESSION | MAMMALIAN-CELLS | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation
MESSENGER-RNAS | PROTEIN | MENTAL-RETARDATION | RETT-SYNDROME | GENE | ADULT-MOUSE FOREBRAIN | GENETICS & HEREDITY | TARGETS | LYMPHOBLASTOID CELL-LINES | MICRORNA EXPRESSION | MAMMALIAN-CELLS | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation
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Loading RightsExperimental Cell Research, ISSN 0014-4827, 09/2013, Volume 319, Issue 15, pp. 2368 - 2374
Intellectual disability (ID) imposes a major medical and social–economical problem in our society. It is defined as a global reduction in cognitive and...
Synapse | Intellectual disability | Rho GTPase | Synaptic plasticity | INHIBITORY SYNAPSES | GABAERGIC SYNAPSES | PROTEIN OLIGOPHRENIN-1 | NEUROLOGICAL DISORDERS | CELL BIOLOGY | DENDRITIC SPINES | LINKED MENTAL-RETARDATION | ONCOLOGY | COLLYBISTIN ISOFORMS | NUCLEOTIDE EXCHANGE FACTOR | FRAGILE-X-SYNDROME | CEREBELLAR HYPOPLASIA | Cytoskeletal Proteins - genetics | Humans | Actins - metabolism | Dendritic Spines - metabolism | Synapses - genetics | GTPase-Activating Proteins - metabolism | Synapses - pathology | Actins - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Neurogenesis - genetics | Synapses - metabolism | Guanine Nucleotide Exchange Factors - metabolism | Cytoskeletal Proteins - metabolism | Nuclear Proteins - genetics | Guanine Nucleotide Exchange Factors - genetics | Cytoskeleton - pathology | p21-Activated Kinases - genetics | Signal Transduction | Cytoskeleton - genetics | Gene Expression Regulation | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Rho Guanine Nucleotide Exchange Factors | p21-Activated Kinases - metabolism | Neuronal Plasticity | Dendritic Spines - pathology | Cytoskeleton - metabolism | Dendritic Spines - genetics | GTPase-Activating Proteins - genetics | Muscle proteins | Neurosciences | G proteins | Proteins | Signal transduction | Cellular biology | Mental retardation
Synapse | Intellectual disability | Rho GTPase | Synaptic plasticity | INHIBITORY SYNAPSES | GABAERGIC SYNAPSES | PROTEIN OLIGOPHRENIN-1 | NEUROLOGICAL DISORDERS | CELL BIOLOGY | DENDRITIC SPINES | LINKED MENTAL-RETARDATION | ONCOLOGY | COLLYBISTIN ISOFORMS | NUCLEOTIDE EXCHANGE FACTOR | FRAGILE-X-SYNDROME | CEREBELLAR HYPOPLASIA | Cytoskeletal Proteins - genetics | Humans | Actins - metabolism | Dendritic Spines - metabolism | Synapses - genetics | GTPase-Activating Proteins - metabolism | Synapses - pathology | Actins - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Neurogenesis - genetics | Synapses - metabolism | Guanine Nucleotide Exchange Factors - metabolism | Cytoskeletal Proteins - metabolism | Nuclear Proteins - genetics | Guanine Nucleotide Exchange Factors - genetics | Cytoskeleton - pathology | p21-Activated Kinases - genetics | Signal Transduction | Cytoskeleton - genetics | Gene Expression Regulation | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Rho Guanine Nucleotide Exchange Factors | p21-Activated Kinases - metabolism | Neuronal Plasticity | Dendritic Spines - pathology | Cytoskeleton - metabolism | Dendritic Spines - genetics | GTPase-Activating Proteins - genetics | Muscle proteins | Neurosciences | G proteins | Proteins | Signal transduction | Cellular biology | Mental retardation
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Loading RightsNeuroscience and Biobehavioral Reviews, ISSN 0149-7634, 10/2014, Volume 46, Issue 2, pp. 161 - 174
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common developmental disorders present in humans. Combined, they affect between 3...
Autism spectrum disorders | Molecular pathways | Intellectual disability | Neurodevelopmental disorder | Synaptic plasticity | UBIQUITIN LIGASE | ANGELMAN-SYNDROME | NEUROSCIENCES | DENDRITIC SPINES | ACCESSORY PROTEIN-LIKE | LINKED MENTAL-RETARDATION | MOUSE MODEL | FRAGILE-X-SYNDROME | BEHAVIORAL SCIENCES | CHILDHOOD-ONSET SCHIZOPHRENIA | COPY NUMBER VARIATION | Child Development Disorders, Pervasive - metabolism | Synaptic Vesicles - metabolism | Signal Transduction | Humans | Intellectual Disability - complications | Intellectual Disability - genetics | Intellectual Disability - metabolism | Neuronal Plasticity - genetics | Animals | Child Development Disorders, Pervasive - complications | Child Development Disorders, Pervasive - genetics | Cytoskeleton - metabolism | Cell Adhesion Molecules, Neuronal - metabolism | Models, Neurological | Genetic research | Autism | Genetic aspects | Analysis | Genes | Intellectual Disability | Autism Spectrum Disorders
Autism spectrum disorders | Molecular pathways | Intellectual disability | Neurodevelopmental disorder | Synaptic plasticity | UBIQUITIN LIGASE | ANGELMAN-SYNDROME | NEUROSCIENCES | DENDRITIC SPINES | ACCESSORY PROTEIN-LIKE | LINKED MENTAL-RETARDATION | MOUSE MODEL | FRAGILE-X-SYNDROME | BEHAVIORAL SCIENCES | CHILDHOOD-ONSET SCHIZOPHRENIA | COPY NUMBER VARIATION | Child Development Disorders, Pervasive - metabolism | Synaptic Vesicles - metabolism | Signal Transduction | Humans | Intellectual Disability - complications | Intellectual Disability - genetics | Intellectual Disability - metabolism | Neuronal Plasticity - genetics | Animals | Child Development Disorders, Pervasive - complications | Child Development Disorders, Pervasive - genetics | Cytoskeleton - metabolism | Cell Adhesion Molecules, Neuronal - metabolism | Models, Neurological | Genetic research | Autism | Genetic aspects | Analysis | Genes | Intellectual Disability | Autism Spectrum Disorders
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