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1. Full Text Creatine biosynthesis and transport in health and disease
by Joncquel-Chevalier Curt, Marie and Voicu, Pia-Manuela and Fontaine, Monique and Dessein, Anne-Frédérique and Porchet, Nicole and Mention-Mulliez, Karine and Dobbelaere, Dries and Soto-Ares, Gustavo and Cheillan, David and Vamecq, Joseph
Biochimie, ISSN 0300-9084, 12/2015, Volume 119, pp. 146 - 165
GAMT | CRTR | SLC6A8 | AGAT | AMP activated protein kinase | Creatine | Secondary creatine disorders | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | 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 | Index Medicus | Life Sciences
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2. Full Text AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review
by Braissant, O and Henry, H
Journal of inherited metabolic disease, ISSN 0141-8955, 4/2008, Volume 31, Issue 2, pp. 230 - 239
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Biological and medical sciences | Metabolic diseases | Medical sciences | Medical genetics | Glycine - analogs & derivatives | Glycine - metabolism | Prognosis | Guanidinoacetate N-Methyltransferase - genetics | Humans | Brain - enzymology | Amidinotransferases - genetics | Developmental Disabilities - genetics | Intellectual Disability - genetics | Membrane Transport Proteins - deficiency | Amino Acid Metabolism, Inborn Errors - genetics | Developmental Disabilities - enzymology | Membrane Transport Proteins - genetics | Movement Disorders - enzymology | Intellectual Disability - enzymology | Creatine - deficiency | Amidinotransferases - deficiency | Genetic Predisposition to Disease | Language Development Disorders - genetics | Speech Disorders - genetics | Language Development Disorders - enzymology | Phenotype | Animals | Guanidinoacetate N-Methyltransferase - deficiency | Movement Disorders - congenital | Speech Disorders - enzymology | Movement Disorders - genetics | Amino Acid Metabolism, Inborn Errors - enzymology | Creatine | Central nervous system | Index Medicus
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3. Full Text Sibling Recurrence and the Genetic Epidemiology of Autism
by Constantino, John N and Zhang, Yi and Frazier, Thomas and Abbacchi, Anna M and Law, Paul
The American journal of psychiatry, ISSN 0002-953X, 11/2010, Volume 167, Issue 11, pp. 1349 - 1356
Life Sciences & Biomedicine | Psychiatry | Science & Technology | Psychology. Psychoanalysis. Psychiatry | Infantile autism | Psychopathology. Psychiatry | Developmental disorders | Biological and medical sciences | Medical sciences | Child clinical studies | Recurrence | United States | Humans | Child, Preschool | Male | Risk | Language Development Disorders - psychology | Language Development Disorders - epidemiology | Language Development Disorders - diagnosis | Child Development Disorders, Pervasive - diagnosis | Speech Disorders - psychology | Female | Registries | Child | Siblings | Speech Disorders - diagnosis | Child Development Disorders, Pervasive - epidemiology | Quantitative Trait, Heritable | Language Development Disorders - genetics | Speech Disorders - genetics | Phenotype | Child Development Disorders, Pervasive - psychology | Molecular Epidemiology | Child Development Disorders, Pervasive - genetics | Speech Disorders - epidemiology | Adolescent | Sex Factors | Autism | Genetic aspects | Research | Properties | Epidemiology | Genetic counseling | Data collection | Genetics | Mutation | Children & youth | Independent sample | Index Medicus | Abridged Index Medicus | Broader Autism Phenotype | Language | Pervasive Developmental Disorder
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4. Full Text Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders
by Guo, Hui and Bettella, Elisa and Marcogliese, Paul C and Zhao, Rongjuan and Anews, Jonathan C and Nowakowski, Tomasz J and Gillentine, Madelyn A and Hoekzema, Kena and Wang, Tianyun and Wu, Huidan and Jangam, Sharayu and Liu, Cenying and Ni, Hailun and Willemsen, Marjolein H and van Bon, Bregje W and Rinne, Tuula and Stevens, Servi J. C and Kleefstra, Tjitske and Brunner, Han G and Yntema, Helger G and Long, Min and Zhao, Wenjing and Hu, Zhengmao and Colson, Cindy and Richard, Nicolas and Schwartz, Charles E and Romano, Corrado and Castiglia, Lucia and Bottitta, Maria and Dhar, Shweta U and Erwin, Deanna J and Emrick, Lisa and Keren, Boris and Afenjar, Alexana and Zhu, Baosheng and Bai, Bing and Stankiewicz, Pawel and Herman, Kristin and Nickerson, Deborah A and Bamshad, Michael J and Mercimek-Anews, Saadet and Juusola, Jane and Wilfert, Amy B and Abou Jamra, Rami and Büttner, Benjamin and Mefford, Heather C and Muir, Alison M and Scheffer, Ingrid E and Regan, Brigid M and Cobben, Jan and Bellen, Hugo J and Murgia, Alessana and Eichler, Evan E and Univ Washington Ctr Mendelian Geno and University of Washington Center for Mendelian Genomics
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 4679 - 17
yes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | Child, Preschool | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Neurodevelopmental Disorders - psychology | Drosophila Proteins - metabolism | Intellectual Disability - genetics | Behavior, Animal | Brain - metabolism | Young Adult | Language Development Disorders - psychology | Mental Disorders - genetics | Muscle Proteins - metabolism | Adult | Epilepsy - genetics | Female | Membrane Proteins - metabolism | Neurons - metabolism | Child | Craniofacial Abnormalities - genetics | Autistic Disorder - genetics | Language Development Disorders - genetics | Membrane Proteins - genetics | Autistic Disorder - psychology | Whole Exome Sequencing | Mental Disorders - psychology | Muscle Proteins - genetics | Nerve Tissue Proteins - metabolism | Proteins - genetics | Animals | Proteins - metabolism | Adolescent | Intellectual Disability - psychology | Neuroglia - metabolism | Drosophila Proteins - genetics | Mutation | Drosophila melanogaster | Developmental Disabilities - psychology | Mental disorders | Epilepsy | Disorders | Glial cells | Neurodevelopmental disorders | Patients | Neuronal-glial interactions | Proteins | Autism | Fruit flies | Disruption | Postsynaptic density | Index Medicus | Life Sciences | Genetics | Human genetics
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5. Full Text ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties
by St Pourcain, B and Robinson, E and Anttila, V and Sullivan, B and Maller, J and Golding, J and Skuse, D and Ring, S and Evans, D M and Zammit, S and Fisher, S.E and Neale, B and Anney, R J L and Ripke, S and Hollegaard, M V and Werge, T and iPSYCH-SSI-Broad Autism Group and Ronald, A and Grove, J and Hougaard, D M and Børglum, A.D and Mortensen, P B and Daly, M J and Davey Smith, G and iPSYCH-SSI-Broad Autism Grp and iPSYCH-SSI-Broad Autism Group
Molecular psychiatry, ISSN 1359-4184, 2017, Volume 23, Issue 2, pp. 263 - 270
Biochemistry & Molecular Biology | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Verbal Behavior - physiology | Autism Spectrum Disorder - genetics | Multifactorial Inheritance - genetics | Genome-Wide Association Study | Humans | Risk Factors | Male | Schizophrenia - genetics | Attention Deficit Disorder with Hyperactivity - genetics | Language | Child Development Disorders, Pervasive - genetics | Schizophrenia - physiopathology | Social Behavior | Adolescent | Female | Child | Longitudinal Studies | Autism Spectrum Disorder - physiopathology | Communication | Care and treatment | Pervasive developmental disorders | Schizophrenia | Development and progression | Genotype | Genetic aspects | Comparative analysis | Mental disorders | Parents | Youth | Population genetics | Consortia | Autism | Child development | Correlation analysis | Children | Genetic factors | Adolescents | Polygenic inheritance | Index Medicus | Original
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