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1. Full Text Dysregulation of mTOR Signaling in Fragile X Syndrome
by Sharma, Ali and Hoeffer, Charles A and Takayasu, Yukihiro and Miyawaki, Takahiro and McBride, Sean M and Klann, Eric and Zukin, R. Suzanne
The Journal of neuroscience, ISSN 0270-6474, 01/2010, Volume 30, Issue 2, pp. 694 - 702
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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
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2. Full Text CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome
by Todd, Peter K and Oh, Seok Yoon and Krans, Amy and He, Fang and Sellier, Chantal and Frazer, Michelle and Renoux, Abigail J and Chen, Kai-chun and Scaglione, K. Matthew and Basrur, Venkatesha and Elenitoba-Johnson, Kojo and Vonsattel, Jean P and Louis, Elan D and Sutton, Michael A and Taylor, J. Paul and Mills, Ryan E and Charlet-Berguerand, Nicholas and Paulson, Henry L
Neuron (Cambridge, Mass.), ISSN 0896-6273, 05/2013, Volume 78, Issue 3, pp. 440 - 455
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurons - pathology | Protein Biosynthesis | Tremor - pathology | Humans | Nerve Degeneration - genetics | Fragile X Syndrome - pathology | Fragile X Mental Retardation Protein - metabolism | Nerve Degeneration - metabolism | Brain - metabolism | Neurons - metabolism | Ataxia - genetics | Ataxia - metabolism | Ataxia - pathology | Disease Models, Animal | Fragile X Syndrome - genetics | Animals, Genetically Modified | Drosophila | Cells, Cultured | Fragile X Syndrome - metabolism | Nerve Degeneration - pathology | Animals | Tremor - genetics | Brain - pathology | Trinucleotide Repeat Expansion - genetics | Tremor - metabolism | Fragile X Mental Retardation Protein - genetics | Ubiquitin | Ataxia | Universities and colleges | Tremor | RNA | Analysis | Proteins | Confidence intervals | Insects | Neurodegeneration | Rodents | Alzheimers disease | Mental retardation | Patients | Index Medicus | Animal models
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3. Full Text Expression of the GABAergic system in animal models for fragile X syndrome and fragile X associated tremor/ataxia syndrome (FXTAS)
by D'Hulst, Charlotte and Heulens, Inge and Brouwer, Judith R and Willemsen, Rob and De Geest, Natalie and Reeve, Simon P and De Deyn, Peter P and Hassan, Bassem A and Kooy, R. Frank
Brain research, ISSN 0006-8993, 2008, Volume 1253, pp. 176 - 183
Neurology | GABA (A) receptor | Expanded CGG repeat mouse model | Fragile X syndrome | GABAergic signalling | Fragile X fly model | Fragile X knockout mouse | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fragile X Syndrome - genetics | Up-Regulation | Gene Expression | Signal Transduction | gamma-Aminobutyric Acid - metabolism | Cerebellum - metabolism | Fragile X Syndrome - metabolism | Male | Fragile X Mental Retardation Protein - metabolism | Drosophila Proteins - metabolism | Cerebral Cortex - metabolism | Trinucleotide Repeat Expansion | Mice, Knockout | Biological Evolution | RNA - biosynthesis | Animals | Analysis of Variance | Polymerase Chain Reaction | Fragile X Mental Retardation Protein - genetics | Mice | Drosophila Proteins - genetics | Drosophila melanogaster | Disease Models, Animal | Medical colleges | Developmental genetics | Analysis | GABA | Ataxia | Models | Gene expression | Mental illness | Index Medicus
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4. Full Text Calcium dysregulation and Cdk5-ATM pathway involved in a mouse model of fragile X-associated tremor/ataxia syndrome
by Robin, Gaëlle and López, José R and Espinal, Glenda M and Hulsizer, Susan and Hagerman, Paul J and Pessah, Isaac N
Human molecular genetics, ISSN 0964-6906, 07/2017, Volume 26, Issue 14, pp. 2649 - 2666
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Neurons - pathology | Ataxia Telangiectasia Mutated Proteins - metabolism | Calcium - metabolism | Humans | Male | Fragile X Mental Retardation Protein - metabolism | RNA, Messenger - metabolism | Cyclin-Dependent Kinase 5 - genetics | Female | Neurons - metabolism | Ataxia - genetics | Ataxia - metabolism | Disease Models, Animal | Fragile X Syndrome - genetics | Mice, Inbred C57BL | Fragile X Syndrome - metabolism | Hippocampus - pathology | Trinucleotide Repeat Expansion | Cyclin-Dependent Kinase 5 - metabolism | Hippocampus - metabolism | Animals | Tremor - genetics | Tremor - metabolism | Fragile X Mental Retardation Protein - genetics | Mice | Ataxia Telangiectasia Mutated Proteins - genetics | Index Medicus
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5. Full Text Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome
by Sellier, Chantal and Buijsen, Ronald A.M and He, Fang and Natla, Sam and Jung, Laura and Tropel, Philippe and Gaucherot, Angeline and Jacobs, Hugues and Meziane, Hamid and Vincent, Alexandre and Champy, Marie-France and Sorg, Tania and Pavlovic, Guillaume and Wattenhofer-Donze, Marie and Birling, Marie-Christine and Oulad-Abdelghani, Mustapha and Eberling, Pascal and Ruffenach, Frank and Joint, Mathilde and Anheim, Mathieu and Martinez-Cerdeno, Veronica and Tassone, Flora and Willemsen, Rob and Hukema, Renate K and Viville, Stéphane and Martinat, Cecile and Todd, Peter K and Charlet-Berguerand, Nicolas
Neuron (Cambridge, Mass.), ISSN 0896-6273, 01/2017, Volume 93, Issue 2, pp. 331 - 347
neurodegeneration | microsatellite expansion | RAN translation | near-cognate codon | Near-cognate codon | Microsatellite expansion | Neurodegeneration | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Protein Biosynthesis | Humans | Peptides - genetics | Male | Fragile X Mental Retardation Protein - metabolism | RNA, Messenger - metabolism | Brain - metabolism | DNA-Binding Proteins - metabolism | Peptides - metabolism | Nuclear Lamina - metabolism | Membrane Proteins - metabolism | Nuclear Lamina - pathology | Ataxia - genetics | Ataxia - metabolism | Real-Time Polymerase Chain Reaction | Fragile X Syndrome - genetics | Fragile X Syndrome - metabolism | Mice, Transgenic | Animals | Tremor - genetics | Brain - pathology | Trinucleotide Repeat Expansion - genetics | Tremor - metabolism | Fragile X Mental Retardation Protein - genetics | Mice | Proteins | Nervous system diseases | Genetic engineering | RNA | Medical genetics | Codon | Resveratrol | Protein binding | Medical research | Ataxia | Mutation | Gene expression | Colleges & universities | Index Medicus
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6. Full Text Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome
by Valenti, Daniela and de Bari, Lidia and De Filippis, Bianca and Henrion-Caude, Alexandra and Vacca, Rosa Anna
Neuroscience and biobehavioral reviews, ISSN 0149-7634, 10/2014, Volume 46, Issue 2, pp. 202 - 217
Neuroplasticity | Oxidative stress | Epigallocatechine-3-gallate | Mitochondrial dysfunction | Down syndrome | Drug development | Neurogenesis | Autism | Mitochondria | Intellectual disability | Oxidative phosphorylation | Rett syndrome | Fragile X | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Behavioral Sciences | Science & Technology | Mitochondrial Diseases - pathology | Rett Syndrome - complications | Autistic Disorder - physiopathology | Autistic Disorder - metabolism | Down Syndrome - metabolism | Fragile X Syndrome - physiopathology | Humans | Mitochondrial Diseases - metabolism | Intellectual Disability - complications | Down Syndrome - physiopathology | Fragile X Syndrome - drug therapy | Intellectual Disability - metabolism | Mitochondrial Diseases - complications | Neuronal Plasticity - physiology | Down Syndrome - complications | Molecular Targeted Therapy - methods | Oxidative Phosphorylation | Fragile X Syndrome - metabolism | Mitochondria - metabolism | Antioxidants - pharmacology | Mitochondria - pathology | Fragile X Syndrome - complications | Rett Syndrome - physiopathology | Intellectual Disability - physiopathology | Rett Syndrome - metabolism | Antioxidants - therapeutic use | Models, Biological | Neurogenesis - physiology | Oxidative Stress - drug effects | Autistic Disorder - complications | Mitochondrial Diseases - physiopathology | Actors | Actresses | Cells | Index Medicus
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7. Full Text Altered Neuronal and Circuit Excitability in Fragile X Syndrome
by Contractor, Anis and Klyachko, Vitaly A and Portera-Cailliau, Carlos
Neuron (Cambridge, Mass.), ISSN 0896-6273, 08/2015, Volume 87, Issue 4, pp. 699 - 715
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fragile X Syndrome - genetics | Synapses - physiology | Brain - physiopathology | Fragile X Syndrome - physiopathology | Humans | Fragile X Syndrome - metabolism | Fragile X Mental Retardation Protein - metabolism | Brain - metabolism | Animals | Nerve Net - metabolism | Neurons - physiology | Fragile X Mental Retardation Protein - genetics | Nerve Net - physiopathology | Fragile X syndrome | Gene mutations | Neurons | Analysis | Neurophysiology | Proteins | Studies | Autism | Genotype & phenotype | Behavior | Neural networks | Index Medicus | audiogenic seizures | FMRP | tactile defensiveness | Fmr1 | GABA | intrinsic excitability | hyperarousal | autism | ion channels
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