Disease: Fragile X syndrome
- 14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review
- A holistic approach to fragile X syndrome integrated guidance for person-centred care
- A novel combination treatment for fragile X syndrome predicted using computational methods
- A supervised learning method for classifying methylation disorders
- An Update on Psychopharmacological Treatment of Autism Spectrum Disorder
- Analyzing the Quality of Life in Individuals with Fragile X Syndrome in Relation to Sleep and Mental Health
- Astrocytes in fragile X syndrome
- Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China
- Atypical retinal function in a mouse model of Fragile X syndrome
- Bisphenol F affects neurodevelopmental gene expression, mushroom body development and behavior in Drosophila melanogaster
- Bisphenol F affects neurodevelopmental gene expression, mushroom body development, and behavior in Drosophila melanogaster
- BREACHing new grounds in fragile X syndrome: Trinucleotide expansion linked to genome-wide heterochromatin domains and genome misfolding
- Calcium-dependent regulation of neuronal excitability is rescued in Fragile X Syndrome by a tat-conjugated N-terminal fragment of FMRP
- 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
- Cannabidiol and positive effects on object recognition memory in an in vivo model of Fragile X Syndrome: Obligatory role of hippocampal GPR55 receptors
- Cannabinoid treatment for the symptoms of autism spectrum disorder
- Case Series: Vestibular Migraines in Fragile X Premutation Carriers
- Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research
- Characterising the social interaction style of autism in young adult males with fragile X syndrome
- Characterization of ribosome stalling and no-go mRNA decay stimulated by the Fragile X protein, FMRP
- Circuit-based intervention corrects excessive dentate gyrus output in the fragile X mouse model
- Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature
- Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population
- Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<em>SLC6A8</em>)
- Combined extended reality and reinforcement learning to promote healthcare and reduce social anxiety in fragile X syndrome: a new assessment tool and a rehabilitative strategy
- Computing a cure for fragile-X syndrome
- Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant
- CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders
- De novo copy number variations in candidate genomic regions in patients of severe autism spectrum disorder in Vietnam
- Defects in AMPAR trafficking and microglia activation underlie socio-cognitive deficits associated to decreased expression of phosphodiesterase 2 a
- Deficits in olfactory system neurogenesis in neurodevelopmental disorders
- Developmental Associations between Cognition and Adaptive Behavior in Intellectual and Developmental Disability
- Developmental associations between motor and communication outcomes in Fragile X syndrome: Variation in the context of co-occurring autism
- Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome
- Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region
- Early expression of GluN2A-containing NMDA receptors in a model of fragile X syndrome
- Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside
- EF1α-associated protein complexes affect dendritic spine plasticity by regulating microglial phagocytosis in Fmr1 knock-out mice
- Effects of Soy Protein Isolate on Fragile X Phenotypes in Mice
- Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
- Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia
- EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons
- FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study
- FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation
- FMRP expression correlates with IQ in both PBMCs and fibroblasts from individuals with a FMR1 mutation
- FMRP regulation of aggrecan mRNA translation controls perineuronal net development
- Fragile X cortex is characterized by decreased parvalbumin-expressing interneurons
- Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back
- Fragile X premutation mimicking late onset hereditary spastic paraplegia
- Fragile X Syndrome
- Fragile X Syndrome and Premutation Disorders: New Developments and Treatments
- Fragile X syndrome in the largest world clustering. I. Genetic epidemiology and founder effect outline
- Genetic Association of Lipids and Lipid-Lowering Drug Target Genes With Attention Deficit Hyperactivity Disorder
- KIF5B plays important roles in dendritic spine plasticity and dendritic localization of PSD95 and FMRP in the mouse cortex in vivo
- Language Skills Influence Transition Planning in Adolescents With Fragile X Syndrome
- mGluR7 allosteric modulator AMN082 corrects protein synthesis and pathological phenotypes in FXS
- Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders
- Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients
- Multi-level profiling of the Fmr1 KO rat unveils altered behavioral traits along with aberrant glutamatergic function
- Multidimensional Analysis of a Social Behavior Identifies Regression and Phenotypic Heterogeneity in a Female Mouse Model for Rett Syndrome
- Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS
- NMR analysis of <sup>15</sup>N-labeled naphthyridine carbamate dimer (NCD) to contiguous CGG/CGG units in DNA
- Open-Label Sulforaphane Trial in FMR1 Premutation Carriers with Fragile-X-Associated Tremor and Ataxia Syndrome (FXTAS)
- Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation
- Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome
- PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the <em>FMR1</em> Gene
- Pharmacological management of fragile X syndrome: a systematic review and narrative summary of the current evidence
- Phenotypic analysis of multielectrode array EEG biomarkers in developing and adult male Fmr1 KO mice
- Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues
- Purinergic Signalling Mediates Aberrant Excitability of Developing Neuronal Circuits in the Fmr1 Knockout Mouse Model
- Research progress of the inferior colliculus: from Neuron, neural circuit to auditory disease
- RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction
- Rodents' visual gamma as a biomarker of pathological neural conditions
- Selective vulnerability of the ventral hippocampus-prelimbic cortex axis parvalbumin interneuron network underlies learning deficits of fragile X mice
- Septotemporal variation of information processing in the hippocampus of Fmr1 KO rat
- Sequencing and characterizing short tandem repeats in the human genome
- Sex-specific modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome
- Similar Gap-Overlap Profiles in Children with Fragile X Syndrome and IQ-Matched Autism
- Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome
- Special Issue "Neurogenetics in Neurology"
- SRC family kinase inhibition rescues molecular and behavioral phenotypes, but not protein interaction network dynamics, in a mouse model of Fragile X syndrome
- State-of-the-art therapies for fragile X syndrome
- Structural Dynamics Role of AGG Interruptions in Inhibition CGG Repeat Expansion Associated with Fragile X Syndrome
- Sulfide quinone oxidoreductase contributes to voltage sensing of the mitochondrial permeability transition pore
- Tandem MutSβ binding to long extruded DNA trinucleotide repeats underpins pathogenic expansions
- The fragile X locus is prone to spontaneous DNA damage that is preferentially repaired by nonhomologous end-joining to preserve genome integrity
- The Identification of Nuclear FMRP Isoform Iso6 Partners
- The impact of social-environmental factors on IQ in syndromic intellectual developmental disabilities
- The NSP3 protein of SARS-CoV-2 binds fragile X mental retardation proteins to disrupt UBAP2L interactions
- Topography and ensemble activity in auditory cortex of a mouse model of Fragile-X-Syndrome
- Transcranial direct current stimulation combined with speech therapy in Fragile X syndrome patients: a pilot study
- Translational modulator ISRIB alleviates synaptic and behavioral phenotypes in Fragile X syndrome
- Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome
- Validating brain activity measures as reliable indicators of individual diagnostic group and genetically mediated sub-group membership Fragile X Syndrome
- Variable expression of <em>MECP2, CDKL5,</em> and <em>FMR1</em> in the human brain: Implications for gene restorative therapies
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome
- Visual attention patterns during a gaze following task in neurogenetic syndromes associated with unique profiles of autistic traits: Fragile X and Cornelia de Lange syndromes
- White matter astrocyte degeneration in FXTAS