Disease: Fragile X syndrome type 1
- (<em>S</em>)-5-(2'-Fluorophenyl)-<em>N</em>,<em>N</em>-dimethyl-1,2,3,4-tetrahydronaphthalen-2-amine, a Serotonin Receptor Modulator, Possesses Anticonvulsant, Prosocial, and Anxiolytic-like Properties in an <em
- (S)-5-(2'-Fluorophenyl)-N,N-dimethyl-1,2,3,4-tetrahydronaphthalen-2-amine, a Serotonin Receptor Modulator, Possesses Anticonvulsant, Prosocial, and Anxiolytic-like Properties in an Fmr1 Knockout Mouse Model of Fragile X Syndrome and Autism Spectrum D
- <em>Cyfip1</em> Haploinsufficiency Does Not Alter GABA<sub>A</sub> Receptor δ-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV<sup>+</sup> Interneurons and Granule Cells
- A simple high-throughput method for automated detection of Drosophila melanogaster light-dependent behaviours
- A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms
- A vital role for PICK1 in the differential regulation of metabotropic glutamate receptor internalization and synaptic AMPA receptor endocytosis
- Affinity-enhanced RNA-binding domains as tools to understand RNA recognition
- Altered brain-wide auditory networks in a zebrafish model of fragile X syndrome
- Altered dendritic spine function and integration in a mouse model of fragile X syndrome
- Altered dopaminergic pathways and therapeutic effects of intranasal dopamine in two distinct mouse models of autism
- Altered steady state and activity-dependent de novo protein expression in fragile X syndrome
- Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison
- Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation
- Calcium-Dependent Regulation of Neuronal Excitability Is Rescued in Fragile X Syndrome by a Tat-Conjugated N-Terminal Fragment of FMRP
- Cannabidiol (CBD) reduces anxiety-related behavior in mice via an FMRP-independent mechanism
- Cannabidiol (Epidyolex) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
- Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials
- Carbamazepine Restores Neuronal Signaling, Protein Synthesis, and Cognitive Function in a Mouse Model of Fragile X Syndrome
- Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
- Case Report: Coexistence of Alzheimer-Type Neuropathology in Fragile X-Associated Tremor Ataxia Syndrome
- Cell-type-specific visualisation and biochemical isolation of endogenous synaptic proteins in mice
- Characterization of a mGluR5 Knockout Rat Model with Hallmarks of Fragile X Syndrome
- Characterization of Auditory and Binaural Spatial Hearing in a Fragile X Syndrome Mouse Model
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice
- Computational identification and molecular dynamics simulation of potential circularRNA derived peptide from gene expression profile of Rheumatoid arthritis, Alzheimer's disease, and Atrial fibrillation
- Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome
- Design and Synthesis of Selective Phosphodiesterase 4D (PDE4D) Allosteric Inhibitors for the Treatment of Fragile X Syndrome and Other Brain Disorders
- Divergent presentation of anxiety in high-risk groups within the intellectual disability population
- Dysregulation of GABAA Receptor-Mediated Neurotransmission during the Auditory Cortex Critical Period in the Fragile X Syndrome Mouse Model
- Early Administration of the Phytocannabinoid Cannabidivarin Prevents the Neurobehavioral Abnormalities Associated with the <em>Fmr1</em>-KO Mouse Model of Fragile X Syndrome
- Early Administration of the Phytocannabinoid Cannabidivarin Prevents the Neurobehavioral Abnormalities Associated with the Fmr1-KO Mouse Model of Fragile X Syndrome
- Effects of AFQ056 on language learning in fragile X syndrome
- Effects of blocking mGluR5 on primate dorsolateral prefrontal cortical neuronal firing and working memory performance
- Effects of chronic inhibition of phosphodiesterase-4D on behavior and regional rates of cerebral protein synthesis in a mouse model of fragile X syndrome
- Effects of the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy
- Electrophysiological and Behavioral Evidence for Hyper- and Hyposensitivity in Rare Genetic Syndromes Associated with Autism
- ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
- Experience-dependent changes in hippocampal spatial activity and hippocampal circuit function are disrupted in a rat model of Fragile X Syndrome
- Exploring microbiota-gut-brain axis biomarkers linked to autism spectrum disorder in prenatally chlorpyrifos-exposed Fmr1 knock-out and wild-type male rats
- Expression of FMRpolyG in Peripheral Blood Mononuclear Cells of Women with Fragile X Mental Retardation 1 Gene Premutation
- Fast Assays to Detect Interruptions in CTG.CAG Repeat Expansions
- FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission
- FMRP acts as a key messenger for visceral pain modulation
- FMRP Modulates Neural Differentiation through m<sup>6</sup>A-Dependent mRNA Nuclear Export
- FMRP regulates presynaptic localization of neuronal voltage gated calcium channels
- FMRP regulation of aggrecan mRNA translation controls perineuronal net development
- FMRP(1-297)-tat restores ion channel and synaptic function in a model of Fragile X syndrome
- Fragile X Mental Retardation Protein Bidirectionally Controls Dendritic I(h) in a Cell Type-Specific Manner between Mouse Hippocampus and Prefrontal Cortex
- Fragile X Mental Retardation Protein Bidirectionally Controls Dendritic I<sub>h</sub> in a Cell Type-Specific Manner between Mouse Hippocampus and Prefrontal Cortex
- Fragile X mental retardation protein modulates somatic D-type K(+) channels and action potential threshold in the mouse prefrontal cortex
- Fragile X mental retardation protein modulates somatic D-type K<sup>+</sup> channels and action potential threshold in the mouse prefrontal cortex
- GABA Measurement in a Neonatal Fragile X Syndrome Mouse Model Using (1)H-Magnetic Resonance Spectroscopy and Mass Spectrometry
- GABA Measurement in a Neonatal Fragile X Syndrome Mouse Model Using <sup>1</sup>H-Magnetic Resonance Spectroscopy and Mass Spectrometry
- Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study
- Gene therapy using human FMRP isoforms driven by the human <em>FMR1</em> promoter rescues fragile X syndrome mouse deficits
- Gene therapy using human FMRP isoforms driven by the human FMR1 promoter rescues fragile X syndrome mouse deficits
- Genetic removal of p70 S6K1 corrects coding sequence length-dependent alterations in mRNA translation in fragile X syndrome mice
- Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
- Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series
- Identification of differentially expressed microRNAs and their target genes in the hippocampal tissues of Fmr1 knockout mice
- Identification of FMR1-regulated molecular networks in human neurodevelopment
- Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction
- Influence of Gestational Chlorpyrifos Exposure on ASD-like Behaviors in an fmr1-KO Rat Model
- KIF5B plays important roles in dendritic spine plasticity and dendritic localization of PSD95 and FMRP in the mouse cortex in vivo
- Modeling neurodegenerative and neurodevelopmental disorders in the <em>Drosophila</em> mushroom body
- Modulators of Kv3 Potassium Channels Rescue the Auditory Function of Fragile X Mice
- Multifaceted Changes in Synaptic Composition and Astrocytic Involvement in a Mouse Model of Fragile X Syndrome
- Multimodal assessment of the GABA system in patients with fragile-X syndrome and neurofibromatosis of type 1
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
- New Era of Diacylglycerol Kinase, Phosphatidic Acid and Phosphatidic Acid-Binding Protein
- NMDA receptor function in inhibitory neurons
- Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
- Optimization of ribosome profiling using low-input brain tissue from fragile X syndrome model mice
- Oral language interventions can improve language outcomes in children with neurodevelopmental disorders: A systematic review and meta-analysis
- Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome
- Perinatal supplementation with omega-3 fatty acids corrects the aberrant social and cognitive traits observed in a genetic model of autism based on FMR1 deletion in rats
- PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the <em>FMR1</em> Gene
- Phosphodiesterase 2A inhibition corrects the aberrant behavioral traits observed in genetic and environmental preclinical models of Autism Spectrum Disorder
- Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
- Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition
- Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
- Reciprocal regulation of spontaneous synaptic vesicle fusion by Fragile X mental retardation protein and group I metabotropic glutamate receptors
- Region-Related Differences in Short-Term Synaptic Plasticity and Synaptotagmin-7 in the Male and Female Hippocampus of a Rat Model of Fragile X Syndrome
- Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP
- Serotonin 5-HT7 receptors require cyclin-dependent kinase 5 to rescue hippocampal synaptic plasticity in a mouse model of Fragile X Syndrome
- Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice
- Significance and case analysis of FMR1 mutation screening during early and middle pregnancy
- Skeletal muscle proteome expression differentiates severity of cancer cachexia in mice and identifies loss of fragile X mental retardation syndrome-related protein 1
- Spontaneous motor-behavior abnormalities in two <em>Drosophila</em> models of neurodevelopmental disorders
- Sustained correction of associative learning deficits after brief, early treatment in a rat model of Fragile X Syndrome
- Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model
- The effect of single-cell knockout of Fragile X Messenger Ribonucleoprotein on synaptic structural plasticity
- The post-synaptic scaffolding protein tamalin regulates ligand-mediated trafficking of metabotropic glutamate receptors
- The same stress elicits different effects on anxiety-like behavior in rat models of Fmr1<sup>-/y</sup> and Pten<sup>+/</sup>
- The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome
- Transient Enhanced GluA2 Expression in Young Hippocampal Neurons of a Fragile X Mouse Model
- Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome
- Visual Experience-Dependent Oscillations and Underlying Circuit Connectivity Changes Are Impaired in Fmr1 KO Mice
- What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome?