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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 Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake
by Nabuurs, C.I.H.C and Choe, C.U and Veltien, A.A and Kan, H.E and Loon, L.J.C. van and Rodenburg, R.J.T and Matschke, J and Wieringa, B and Kemp, G.J and Isbrandt, D and Heerschap, A
The Journal of physiology, ISSN 0022-3751, 2013, Volume 591, Issue 2, pp. 571 - 592
Neurosciences | Physiology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Speech Disorders - diet therapy | Developmental Disabilities - metabolism | Amino Acid Metabolism, Inborn Errors - physiopathology | Amidinotransferases - genetics | Muscle, Skeletal - metabolism | Amino Acid Metabolism, Inborn Errors - diet therapy | Muscle Fibers, Skeletal - metabolism | Mitochondria - ultrastructure | Intellectual Disability - metabolism | Proton-Translocating ATPases - metabolism | Speech Disorders - pathology | Amino Acid Metabolism, Inborn Errors - metabolism | Developmental Disabilities - pathology | Adenosine Triphosphate - metabolism | Creatine - deficiency | Amino Acid Metabolism, Inborn Errors - pathology | Intellectual Disability - diet therapy | Hand Strength | Developmental Disabilities - physiopathology | Speech Disorders - metabolism | Amidinotransferases - deficiency | Magnetic Resonance Spectroscopy | Intellectual Disability - pathology | Ischemia - metabolism | Lipid Metabolism | Muscular Atrophy - genetics | Mitochondria - metabolism | Amidinotransferases - metabolism | Speech Disorders - physiopathology | Mice, Knockout | Intellectual Disability - physiopathology | Phosphates - metabolism | Animals | Energy Metabolism | Muscle, Skeletal - physiopathology | Hindlimb - pathology | Muscle Fibers, Skeletal - pathology | Creatine Kinase - metabolism | Creatine - therapeutic use | Mice | Muscle, Skeletal - pathology | Developmental Disabilities - diet therapy | Hydrogen-Ion Concentration | Physiological aspects | Creatine | Homeostasis | Enzymes | Musculoskeletal system | Biosynthesis | Metabolism | Morphology | Index Medicus | Skeletal Muscle and Exercise
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3. Full Text Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
by Anikster, Yair and Haack, Tobias B and Vilboux, Thierry and Pode-Shakked, Ben and Thöny, Beat and Shen, Nan and Guarani, Virginia and Meissner, Thomas and Mayatepek, Ertan and Trefz, Friedrich K and Marek-Yagel, Dina and Martinez, Aurora and Huttlin, Edward L and Paulo, Joao A and Berutti, Riccardo and Benoist, Jean-François and Imbard, Apolline and Dorboz, Imen and Heimer, Gali and Landau, Yuval and Ziv-Strasser, Limor and Malicdan, May Christine V and Gemperle-Britschgi, Corinne and Cremer, Kirsten and Engels, Hartmut and Meili, David and Keller, Irene and Bruggmann, Rémy and Strom, Tim M and Meitinger, Thomas and Mullikin, James C and Schwartz, Gerard and Ben-Zeev, Bruria and Gahl, William A and Harper, J. Wade and Blau, Nenad and Hoffmann, Georg F and Prokisch, Holger and Opladen, Thomas and Schiff, Manuel
American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 257 - 266
neurotransmitter deficiency | tetrahydrobiopterin | dystonia | DNAJC12 | phenylketonuria | hyperphenylalaninemia | newborn screening | BH4 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Allelomorphism | Genetic aspects | Dystonia | Gene mutations | Health aspects | Mental retardation | Phenylketonuria | Physiological aspects | Research | Risk factors | Mutation | Medical screening | Intellectual disabilities | Medical disorders | Genes | Neurological disorders | Index Medicus
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4. Full Text Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
by Willemsen, Marjolein H and Vallès, Astrid and Kirkels, Laurens A M H and Mastebroek, Mathilde and Olde Loohuis, Nikkie and Kos, Aron and Wissink-Lindhout, Willemijn M and de Brouwer, Arjan P M and Nillesen, Willy M and Pfundt, Rolph and Holder-Espinasse, Muriel and Vallée, Louis and Andrieux, Joris and Coppens-Hofman, Marjolein C and Rensen, Hanneke and Hamel, Ben C J and van Bokhoven, Hans and Aschrafi, Armaz and Kleefstra, Tjitske
Journal of medical genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 | Index Medicus
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5. Full Text Genetic and Epigenetic Networks in Intellectual Disabilities
by van Bokhoven, Hans
Annual review of genetics, ISSN 0066-4197, 12/2011, Volume 45, Issue 1, pp. 81 - 104
mental retardation | synaptic plasticity | chromatin modification | cytoskeleton | therapy | autism | Autism | Therapy | Cytoskeleton | Mental retardation | Synaptic plasticity | Chromatin modification | 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 | Epigenetics | Signal transduction | Mental disorders | Molecular structure | Index Medicus
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