Disease: FRAXE syndrome
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa
- Adaptive group behavior of Fragile X mice in unfamiliar environments
- Adiponectin rescues synaptic plasticity in the dentate gyrus of a mouse model of Fragile X Syndrome
- Adult Inception of Ketogenic Diet Therapy Increases Sleep during the Dark Cycle in C57BL/6J Wild Type and Fragile X Mice
- An emerging role of STriatal-enriched protein tyrosine phosphatase in hyperexcitability-associated brain disorders
- An experimentally validated approach to automated biological evidence generation in drug discovery using knowledge graphs
- 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
- Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome
- Assessment of dental and periodontal indices and Streptococcus mutans virulence in fragile X syndrome patients
- Astroglial Kir4.1 potassium channel deficit drives neuronal hyperexcitability and behavioral defects in Fragile X syndrome mouse model
- Atypical retinal function in a mouse model of Fragile X syndrome
- Auditory N1 event-related potential amplitude is predictive of serum concentration of BPN14770 in fragile x syndrome
- Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile
- Cage effects on synaptic plasticity and its modulation 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
- Cannabidiol and positive effects on object recognition memory in an in vivo model of Fragile X Syndrome: Obligatory role of hippocampal GPR55 receptors
- Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals
- Cell- and Pathway-Specific Disruptions in the Accumbens of Fragile X Mouse
- CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons
- Characterization of ribosome stalling and no-go mRNA decay stimulated by the fragile X protein, FMRP
- Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System
- Clinical application value of pre-pregnancy carrier screening in Chinese Han childbearing population
- Conformational and dynamic properties of the KH1 domain of FMRP and its fragile X syndrome linked G266E variant
- Contextual Variables Associated with Challenging Behaviors in Adolescents with Fragile X Syndrome
- Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers
- Corrigendum: Dysregulation of BMP, Wnt, and insulin signaling in fragile X syndrome
- Delayed recruitment of activity-dependent bulk endocytosis in Fmr1 knockout neurons
- Description and predictors of self-determination in males and females with fragile X syndrome on the verge of adulthood
- Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
- Dopaminergic Perturbation in the Aetiology of Neurodevelopmental Disorders
- Dysfunctions of cellular context-sensitivity in neurodevelopmental learning disabilities
- Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology
- Editorial: Molecular links between mitochondrial damage and human neurodegenerative disorders, volume II
- Electrical Synapses Mediate Embryonic Hyperactivity in a Zebrafish Model of Fragile X Syndrome
- Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers
- Epilepsy, EEG and chromosomal rearrangements
- Exploring cross-tissue DNA methylation patterns: blood-brain CpGs as potential neurodegenerative disease biomarkers
- Exploring microbiota-gut-brain axis biomarkers linked to autism spectrum disorder in prenatally chlorpyrifos-exposed Fmr1 knock-out and wild-type male rats
- Exploring the epigenetic landscape: The role of 5-hydroxymethylcytosine in neurodevelopmental disorders
- FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea
- FMRP regulates postnatal neuronal migration via MAP1B
- Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back
- Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
- Fragile X Syndrome: A Review for General Pediatricians
- Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation
- From wings to whiskers to stem cells: why every model matters in fragile X syndrome research
- Frontal Cortex Hyperactivation and Gamma Desynchrony in Fragile X Syndrome: Correlates of Auditory Hypersensitivity
- Hippocampal proteome comparison of infant and adult Fmr1 deficiency mice reveals adult-related changes associated with postsynaptic density
- Hyperpolarization-activated currents drive neuronal activation sequences in sleep
- Hypnotic treatment improves sleep architecture and EEG disruptions and rescues memory deficits in a mouse model of fragile X syndrome
- Implication of the endocannabidiome and metabolic pathways in fragile X syndrome pathophysiology
- Kv7/M channel dysfunction produces hyperexcitability in hippocampal CA1 pyramidal cells of Fmr1 knockout mice
- Lack of FMRP in the retina: Evidence of a retinal specific transcriptomic profile
- Longitudinal Changes in Functional Neural Activation and Sensitization During Face Processing in Fragile X Syndrome
- Longitudinal follow-up of metformin treatment in Fragile X Syndrome
- Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome
- Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders
- Mitochondrial dysfunction in brain tissues and Extracellular Vesicles Fragile X-associated tremor/ataxia syndrome
- Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients
- Modeling neurodegenerative and neurodevelopmental disorders in the <em>Drosophila</em> mushroom body
- Neuroanatomy of autism: what is the role of the cerebellum?
- Oligodendroglia and myelin pathology in fragile X syndrome
- Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain
- Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation
- PGC-1alpha integrates insulin signaling with mitochondrial physiology and behavior in a Drosophila model of Fragile X Syndrome
- Phenotypic analysis of multielectrode array EEG biomarkers in developing and adult male Fmr1 KO mice
- Phosphodiesterase 4D activity in acrodysostosis-associated neural pathology: too much or too little?
- 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
- Psychiatric Manifestations in Early to Middle Stages of Fragile X-Associated Tremor-Ataxia Syndrome (FXTAS)
- Purinergic Signalling Mediates Aberrant Excitability of Developing Neuronal Circuits in the Fmr1 Knockout Mouse Model
- 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
- Reliability of resting-state electrophysiology in fragile X syndrome
- Research progress on phosphodiesterase 4 inhibitors in central nervous system diseases
- Restoring cerebellar-dependent learning
- Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report
- Role of FMRP in AKT/mTOR pathway-mediated hippocampal autophagy in fragile X syndrome
- Role of fragile X messenger ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective
- Selective vulnerability of the ventral hippocampus-prelimbic cortex axis parvalbumin interneuron network underlies learning deficits of fragile X mice
- Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice
- Sex-specific loss of mitochondrial membrane integrity and mass in the auditory brainstem of a mouse model of Fragile X syndrome
- Sleep maintains excitatory synapse diversity in the cortex and hippocampus
- Social Communication Delay in an Unbiased Sample of Preschoolers With the <em>FMR1</em> Premutation
- Strategic Implementation of Fragile X Carrier Screening in China: A Focused Pilot Study
- Suppression of astrocyte BMP signaling improves fragile X syndrome molecular signatures and functional deficits
- Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome
- Systemic pharmacological suppression of neural activity reverses learning impairment in a mouse model of Fragile X syndrome
- The FXR1 network acts as a signaling scaffold for actomyosin remodeling
- The impact of social-environmental factors on IQ in syndromic intellectual developmental disabilities
- The NKCC1 Inhibitor Bumetanide Restores Cortical Feedforward Inhibition and Lessens Sensory Hypersensitivity in Early Postnatal Fragile X Mice
- The role of epigenetics in rare diseases
- Topography and ensemble activity in auditory cortex of a mouse model of Fragile-X-Syndrome
- Topography and Ensemble Activity in the Auditory Cortex of a Mouse Model of Fragile X Syndrome
- Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome
- Using a Combination of Novel Research Tools to Understand Social Interaction in the Drosophila melanogaster Model for Fragile X Syndrome
- Using Organoids to Model Sex Differences in the Human Brain
- Variation of FMRP Expression in Peripheral Blood Mononuclear Cells from Individuals with Fragile X Syndrome
- Widening the Phenotype of Fragile-X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients