Disease: Fragile X syndrome type 3
- (<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 human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies
- Affinity-enhanced RNA-binding domains as tools to understand RNA recognition
- Agonist-induced functional analysis and cell sorting associated with single-cell transcriptomics characterizes cell subtypes in normal and pathological brain
- 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
- An Abnormal Nitric Oxide Metabolism Contributes to Brain Oxidative Stress in the Mouse Model for the Fragile X Syndrome, a Possible Role in Intellectual Disability
- Astroglial FMRP modulates synaptic signaling and behavior phenotypes in FXS mouse model
- Autism medical comorbidities
- Behavioral and Molecular Consequences of Chronic Sleep Restriction During Development in Fragile X Mice
- Beneficial effects of sound exposure on auditory cortex development in a mouse model of Fragile X Syndrome
- Calcium-Dependent Regulation of Neuronal Excitability Is Rescued in Fragile X Syndrome by a Tat-Conjugated N-Terminal Fragment of FMRP
- 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
- Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis
- Cell-Type-Specific Translation Profiling Reveals a Novel Strategy for Treating Fragile X Syndrome
- Cell-type-specific visualisation and biochemical isolation of endogenous synaptic proteins in mice
- Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses
- Clinical and Molecular Assessment in a Female with Fragile X Syndrome and Tuberous Sclerosis
- Comprehensive behavioral analysis of heterozygous Syngap1 knockout mice
- Control of recollection by slow gamma dominating mid-frequency gamma in hippocampus CA1
- Cotinine administration improves impaired cognition in the mouse model of Fragile X syndrome
- Developmental expression of the neuroligins and neurexins in fragile X mice
- Disrupted Cortical State Regulation in a Rat Model of Fragile X Syndrome
- Disruption of GpI mGluR-Dependent Cav2.3 Translation in a Mouse Model of Fragile X Syndrome
- Dysregulation of GABAA Receptor-Mediated Neurotransmission during the Auditory Cortex Critical Period in the Fragile X Syndrome Mouse Model
- 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 the sigma-1 receptor agonist blarcamesine in a murine model of fragile X syndrome: neurobehavioral phenotypes and receptor occupancy
- Endocannabinoid-mediated improvement on a test of aversive memory in a mouse model of fragile X syndrome
- Epilepsy, EEG and chromosomal rearrangements
- Expanded carrier screening in gamete donors of Venezuela
- Expanding Spectrum of Sodium Potassium Chloride Co-transporters in the Pathophysiology of Diseases
- 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
- Familial fragile X syndrome: A pedigree analysis
- FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype
- Fragile X mental retardation protein (FMRP) and metabotropic glutamate receptor subtype 5 (mGlu5) control stress granule formation in astrocytes
- Fragile-X Syndrome Is Associated With NMDA Receptor Hypofunction and Reduced Dendritic Complexity in Mature Dentate Granule Cells
- Functional magnetic resonance imaging in awake transgenic fragile X rats: evidence of dysregulation in reward processing in the mesolimbic/habenular neural circuit
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration
- Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study
- Genetic testing in patients with global developmental delay / intellectual disabilities. A review
- Genome-wide methylation analysis demonstrates that 5-aza-2-deoxycytidine treatment does not cause random DNA demethylation in fragile X syndrome cells
- Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
- Hyperacusis in the Adult <em>Fmr1</em>-KO Mouse Model of Fragile X Syndrome: The Therapeutic Relevance of Cochlear Alterations and BKCa Channels
- Hyperacusis in the Adult Fmr1-KO Mouse Model of Fragile X Syndrome: The Therapeutic Relevance of Cochlear Alterations and BKCa Channels
- 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
- Impaired AMPARs Translocation into Dendritic Spines with Motor Skill Learning in the Fragile X Mouse Model
- In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome
- Increased expression of the PI3K enhancer PIKE mediates deficits in synaptic plasticity and behavior in fragile X syndrome
- Increased transient Na(+) conductance and action potential output in layer 2/3 prefrontal cortex neurons of the fmr1(-/y) mouse
- Increased transient Na<sup>+</sup> conductance and action potential output in layer 2/3 prefrontal cortex neurons of the fmr1<sup>-/y</sup> mouse
- Inequities in diagnosis of Fragile X syndrome in Colombia
- Involvement of Phosphodiesterase 2A Activity in the Pathophysiology of Fragile X Syndrome
- KIF5B plays important roles in dendritic spine plasticity and dendritic localization of PSD95 and FMRP in the mouse cortex in vivo
- Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice
- Mammalian FMRP S499 Is Phosphorylated by CK2 and Promotes Secondary Phosphorylation of FMRP
- Metabotropic glutamate receptor 5 responses dictate differentiation of neural progenitors to NMDA-responsive cells in fragile X syndrome
- Metformin as targeted treatment in fragile X syndrome
- mGluR5 Positive and Negative Allosteric Modulators Differentially Affect Dendritic Spine Density and Morphology in the Prefrontal Cortex
- Multifaceted Changes in Synaptic Composition and Astrocytic Involvement in a Mouse Model of Fragile X Syndrome
- Multiple Early-Life Seizures Alters Neonatal Communicative Behavior in Fmr1 Knockout Mice
- Neuroactive Steroids Reverse Tonic Inhibitory Deficits in Fragile X Syndrome Mouse Model
- Neuroligin 1, 2, and 3 Regulation at the Synapse: FMRP-Dependent Translation and Activity-Induced Proteolytic Cleavage
- Neuronal PAS Domain Proteins 1 and 3 Are Master Regulators of Neuropsychiatric Risk Genes
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature
- Normal CA1 Place Fields but Discoordinated Network Discharge in a Fmr1-Null Mouse Model of Fragile X Syndrome
- Normal Performance of Fmr1 Mice on a Touchscreen Delayed Nonmatching to Position Working Memory Task
- 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
- PKC epsilon as a neonatal target to correct FXS-linked AMPA receptor translocation in the hippocampus, boost PVN oxytocin expression, and normalize adult behavior in Fmr1 knockout mice
- Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition
- Preferences for the research use of electronic health records among young adults with fragile X syndrome or autism spectrum disorder
- Prevalence of Fragile X-Associated Tremor/Ataxia Syndrome in Patients with Cerebellar Ataxia in Japan
- 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
- Retinoic Acid Receptor RARα-Dependent Synaptic Signaling Mediates Homeostatic Synaptic Plasticity at the Inhibitory Synapses of Mouse Visual Cortex
- Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP
- RNA FISH for detecting expanded repeats in human diseases
- S-palmitoylation regulates AMPA receptors trafficking and function: a novel insight into synaptic regulation and therapeutics
- Sensory Difficulties in Children With an FMR1 Premutation
- Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice
- Sex Differences in Dopamine Receptor Signaling in <em>Fmr1</em> Knockout Mice: A Pilot Study
- 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
- Subtle differences in synaptic transmission in medial nucleus of trapezoid body neurons between wild-type and Fmr1 knockout mice
- Tactile Defensiveness and Impaired Adaptation of Neuronal Activity in the <em>Fmr1</em> Knock-Out Mouse Model of Autism
- Tetrahydroquinoline-Capped Histone Deacetylase 6 Inhibitor SW-101 Ameliorates Pathological Phenotypes in a Charcot-Marie-Tooth Type 2A Mouse Model
- The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome
- The NKCC1 Inhibitor Bumetanide Restores Cortical Feedforward Inhibition and Lessens Sensory Hypersensitivity in Early Postnatal Fragile X Mice
- The post-synaptic scaffolding protein tamalin regulates ligand-mediated trafficking of metabotropic glutamate receptors
- The RNA binding protein fragile X mental retardation protein promotes myelin sheath growth
- The small GTPase Arf6 is dysregulated in a mouse model for fragile X syndrome
- The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex
- 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?