Disease: Mental retardation X-linked dysmorphism
- A clinical-translational review of sleep problems in neurodevelopmental disabilities
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa
- A holistic approach to fragile X syndrome integrated guidance for person-centred care
- A novel ACTB variant in an atypical case of Baraitser-Winter syndrome with cerebellar hypoplasia and diaphragmatic hernia
- 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
- Airway management of a patient with coffin-lowry syndrome: a case report
- Apolipoproteine and <em>KLOTHO</em> 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
- Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile
- 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
- 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 (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
- Cell- and Pathway-Specific Disruptions in the Accumbens of Fragile X Mouse
- 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
- Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System
- Circuit-based intervention corrects excessive dentate gyrus output in the fragile X mouse model
- Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene
- Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome
- Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<em>SLC6A8</em>)
- Clinical phenotype, genetic characteristics, and creation of immortalized cell lines for patients from a pedigree affected with Hunter 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
- Deficits in olfactory system neurogenesis in neurodevelopmental disorders
- Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
- Differential cognitive and behavioral development from 6 to 24 months in autism and fragile X syndrome
- Double Cortex Syndrome (Subcortical Band Heterotopia)
- Dysfunctions of cellular context-sensitivity in neurodevelopmental learning disabilities
- Early expression of GluN2A-containing NMDA receptors in a model of fragile X syndrome
- Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology
- EF1α-associated protein complexes affect dendritic spine plasticity by regulating microglial phagocytosis in Fmr1 knock-out mice
- 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
- Establishment and characterization of Lesch-Nyhan syndrome rabbit model
- Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
- First report of Ageratum yellow vein virus infecting papaya in Lampung, Indonesia
- 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 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 premutation mimicking late onset hereditary spastic paraplegia
- Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
- Fragile X Syndrome and Premutation Disorders: New Developments and Treatments
- 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
- Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene
- Hippocampal proteome comparison of infant and adult Fmr1 deficiency mice reveals adult-related changes associated with postsynaptic density
- Hypnotic treatment improves sleep architecture and EEG disruptions and rescues memory deficits in a mouse model of fragile X syndrome
- ILAE neuroimaging task force highlight: Subcortical laminar heterotopia
- 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
- Lack of FMRP in the retina: Evidence of a retinal specific transcriptomic profile
- Loss of FMRP affects ovarian development and behaviour through multiple pathways in a zebrafish model of fragile X syndrome
- Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
- 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 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
- Multi-level profiling of the Fmr1 KO rat unveils altered behavioral traits along with aberrant glutamatergic function
- Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
- 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
- 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
- Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia
- 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
- 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
- Restoring cerebellar-dependent learning
- Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report
- Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats
- RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction
- 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 modulation of early life vocalization and cognition by Fmr1 gene dosage in a mouse model of Fragile X Syndrome
- Single Nucleotide Polymorphism in Cell Adhesion Molecule L1 Affects Learning and Memory in a Mouse Model of Traumatic Brain Injury
- Social Communication Delay in an Unbiased Sample of Preschoolers With the <em>FMR1</em> Premutation
- 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
- Systemic pharmacological suppression of neural activity reverses learning impairment in a mouse model of Fragile X syndrome
- Topography and Ensemble Activity in the Auditory Cortex of a Mouse Model of Fragile X Syndrome
- Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
- Unmethylated Mosaic Full Mutation Males without 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
- Widening the Phenotype of Fragile-X Tremor Ataxia Syndrome in Females: Spasmodic Dysphonia in Two Patients
- X-linked intellectual developmental disorder with onset of neonatal heart failure: A case report and literature review
- X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion