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Dataset results
123 results for “Fragile X syndrome”
Cerebral 3-[18F]fluoro-5-(2-pyridinylethynyl)benzonitrile ([18F]FPEB) uptake and fragile X messenger ribonucleoprotein in men with fragile X syndrome
<p>Legends. Cerebral3-[<sup>18</sup>F]fluoro-5-(2-pyridinylethynyl)benzonitrile([<sup>18</sup>F]FPEB)uptake and fragileX messenger ribonucleoprotein in men with fragile X syndrome</p> <p>Table S1. Concomitant medications of participants from the Institute for Neurodegenerative Disorders (IND)</p> <p>Table S2. Demographic and clinical characteristics of participants from the Institute for Neurodegenerative Disorders (IND)</p> <p>Table S3. Demographic and clinical characteristics of participants from the Johns Hopkins University (JHU)</p> <p>Table S4. Genetic and psychological assessments of participants from the Institute for Neurodegenerative Disorders (IND)</p> <p>Table S5. Genetic and psychological assessments of participants from the Johns Hopkins University (JHU)</p> <p>Table S6. Fragile X Mental Retardation Protein (FMRP) in nanogram per microgram total protein for ten healthy people with typical development (TD) with normal CGG repeat sizes [range (20, 37)] utilizing the same analyses as the other participants</p> <p>Table S7. Positron emission tomography (PET) data and analyses for participants from the Institute for Neurodegenerative Disorders (IND)</p> <p>Table S8. Positron emission tomography (PET) data and analysis of participants from the Johns Hopkins University (JHU)</p> <p>Table S9. Correlation coefficients between Fragile X Mental Retardation Protein (FMRP) (Table S4) and [18F]FPEB uptake (Wong DF et al. 2013) for participants with fragile X syndrome (Table S7)</p> <p>Table S10. Correlation coefficients between Fragile X Mental Retardation Protein (FMRP) (Table S4) and [18F]FPEB uptake (Wong DF et al. 2013) for participants with fragile X syndrome and fragile X syndrome-mosaicism (Table S7)</p> <p>Poster. Cerebral3-[<sup>18</sup>F]fluoro-5-(2-pyridinylethynyl)benzonitrile([<sup>18</sup>F]FPEB)uptake and fragileX messenger ribonucleoprotein in men with fragile X syndrome</p> <p>Video. Cerebral3-[<sup>18</sup>F]fluoro-5-(2-pyridinylethynyl)benzonitrile([<sup>18</sup>F]FPEB)uptake and fragileX messenger ribonucleoprotein in men with fragile X syndrome</p> <p>The authors thank Flora Tassone, Ph.D., Department of Biochemistry and Molecular Medicine, School of Medicine, UC Davis Health, Sacramento, California, for providing genetic and protein data about participants.</p>
Neocortical Localization and Thalamocortical Modulation of Neuronal Hyperexcitability contribute to Fragile X Syndrome: EEG Data
<p>Cleaned 128-channel source electrode data analyzed in manuscript</p>
Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of fragile X syndrome
<p>Fragile X Syndrome (FXS) is the most common inherited cause of intellectual disability and is the leading known single-gene cause of autism spectrum disorder. FXS patients display varied behavioural deficits that include mild to severe cognitive impairments in addition to mood disorders. Currently, there is no cure for this condition, however, there is an emerging focus on therapies that inhibit mTOR-dependent protein synthesis due to the clinical effectiveness of metformin for alleviating some behavioural symptoms in FXS. Adiponectin (APN) is a neurohormone that is released by adipocytes and provides an alternative means to inhibit mTOR activation in the brain. In these studies, we show that <em>Fmr1</em> KO mice, like FXS patients, show reduced levels of circulating APN, and that both LTP and LTD in the DG (dentate gyrus) are impaired. Brief (20 min) incubation of hippocampal slices in APN (50 nM) was able to rescue both LTP and LTD in the DG and increased both the surface expression and phosphorylation of GluA1 receptors. These results provide evidence for reduced adiponectin levels in FXS playing a role in decreasing bidirectional synaptic plasticity and show that therapies that enhance adiponectin levels may have therapeutic potential for this and related conditions.</p>
A 2-Period Crossover Study of BPN14770 in Adults Males With Fragile X Syndrome
ClinicalTrials.gov study NCT03569631. IPD Sharing: NO. Countries: 1. Publications: 2.
Ganaxolone Treatment in Children With Fragile X Syndrome
ClinicalTrials.gov study NCT01725152. IPD Sharing: Not stated. Countries: 2. Publications: 1.
Acamprosate in Youth With Fragile X Syndrome
ClinicalTrials.gov study NCT01300923. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Add-on Pilot Trial of Minocycline to Treat Fragile X Syndrome
ClinicalTrials.gov study NCT00858689. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Long-term, Safety and Tolerability Study of AFQ056 in Adolescent Patients With Fragile X Syndrome (Open-label)
ClinicalTrials.gov study NCT01433354. IPD Sharing: Not stated. Countries: 13. Publications: 1.
Safety and Efficacy of AFQ056 in Adolescent Patients With Fragile X Syndrome
ClinicalTrials.gov study NCT01357239. IPD Sharing: Not stated. Countries: 16. Publications: 2.
Trial of Minocycline to Treat Children With Fragile X Syndrome
ClinicalTrials.gov study NCT01053156. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
ClinicalTrials.gov study NCT02642653. IPD Sharing: NO. Countries: 1. Publications: 1.
Double-blind Placebo Controlled Study of Oxytocin in Fragile X Syndrome
ClinicalTrials.gov study NCT01254045. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Decisional Capacity and Informed Consent in Fragile X Syndrome
ClinicalTrials.gov study NCT02465931. IPD Sharing: NO. Countries: 1. Publications: 2.
Citocoline for Treatment in Fragile X-associated Tremor/Ataxia Syndrome
ClinicalTrials.gov study NCT02197104. IPD Sharing: Not stated. Countries: 1. Publications: 1.
A Prospective Open-label Study of Aripiprazole in Fragile X Syndrome
ClinicalTrials.gov study NCT00420459. IPD Sharing: NO. Countries: 1. Publications: 1.
A Study of OV101 in Individuals With Fragile X Syndrome
ClinicalTrials.gov study NCT03697161. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Memantine Treatment in Fragile X-Associated Tremor/Ataxia Syndrome
ClinicalTrials.gov study NCT00584948. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Riluzole in Fragile X Syndrome
ClinicalTrials.gov study NCT00895752. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of fragile X syndrome
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Smith et al fNIRS Fragile X Syndrome
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