Disease: Fragile X syndrome
- 14q22.3 duplication including OTX2 in a girl with medulloblastoma: A case report with literature review
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa
- 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 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
- 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
- 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>)
- 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
- 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
- Deficits in olfactory system neurogenesis in neurodevelopmental disorders
- Delayed recruitment of activity-dependent bulk endocytosis in Fmr1 knockout neurons
- 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
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
- Dysfunctions of cellular context-sensitivity in neurodevelopmental learning disabilities
- Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology
- Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside
- 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 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
- EZH2 inhibition reactivates epigenetically silenced FMR1 and normalizes molecular and electrophysiological abnormalities in fragile X syndrome neurons
- FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea
- 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 regulates postnatal neuronal migration via MAP1B
- 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 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
- 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
- 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
- Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation
- Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation
- 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
- 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
- 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 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
- Translational modulator ISRIB alleviates synaptic and behavioral phenotypes in 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
- 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