An Autopsy Case With Fragile X-Associated Tremor/Ataxia Syndrome Presenting Intranuclear Inclusion Bodies Mainly in the Limbic System.

A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

Development of an integrative cross-omics approach for conceptual adverse outcome pathway network construction.

[Features of premorbid status in patients with Rett syndrome].

Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome.

Foundations of an Ovine Model of Fragile X Syndrome.

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Orofacial clefting in PHF6-related Börjeson-Forssman-Lehmann syndrome.

Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.

Börjeson-Forssman-Lehmann Syndrome in a Pediatric Patient: A Four-Year Longitudinal Case Report Focused on Functional Evolution and Rehabilitation.

Bioisostere-Driven Discovery of SePP: A Selenium-Containing Polypharmacological Agent Relevant to Fragile X Syndrome.

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

Behavioral Phenotype Associations With Resting State EEG Signal Complexity and Power Spectral Density in Fragile X Syndrome.

Hippocampal glial alterations are associated with Lamin B1 dysregulation and abnormal nuclear morphology in a rat model of fragile X syndrome.

Type 2 Diabetes in a Portuguese Adolescent With Hijazi-Reis Syndrome.

Prenatal diagnosis of distal Xq28 duplication syndrome: case reports and literature review.

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome.

Coffin-Lowry syndrome: a systematic review of RPS6KA3 confirmed cases and implications for diagnosis and counseling.

A Zebrafish Seizure Model of cblX Syndrome Reveals a Dose-Dependent Response to mTor Inhibition.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Metabolic reprogramming during human neuron differentiation indicates glutaminase as a key determinant in Fragile X syndrome.

Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.

[Case Report of One Family With Coffin-Lowry Syndrome and Literature Review of 28 Cases in China].

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression.

Thyrotoxicosis in MCT8 deficiency.

The missense mutation Y65C in PQBP1 causes microcephaly and cognitive deficits through a combination of partial loss-of-function and gain-of-function effects.

Integrative transcriptome-wide association analyses reveal PRKCG-linked GABAergic dysfunction in Fragile X-associated tremor/ataxia syndrome.

Elevated serotonin receptor 2A signaling restores learning and memory in a Fragile X syndrome model.

Alterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.

Dysfunctional neural dynamics associated with sensory phenotypes in Fragile X syndrome: insights from mouse models.

Systemic administration of the OGT inhibitor OSMI-1 normalizes hippocampal O-GlcNAcylation and improves recognition memory, redox balance, and brain mitochondrial homeostasis in a Rett syndrome mouse model.

Alterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome.

Astrocytic GABA controls fidelity of temporal cortical processing in Fragile X Syndrome.

Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients.

MeCP2 regulates telencephalic development in human cerebral organoids.

Palmitic acid differently modulates extracellular vesicles and cellular fatty acid composition of SGBS adipocytes without impairing their insulin signaling.

IGF2BPs directly regulate the noncanonical translation of toxic proteins from mutant FMR1 mRNA containing expanded CGG repeats.

Misdiagnosis of 99mTc-PYP-positive Danon disease as ATTR-CA: a case report and molecular imaging pitfalls.

Doublecortin-expressing cells are selectively altered in the piriform cortex but not in neurogenic areas of symptomatic Mecp2-heterozygous mice.

MeCP2-driven chromatin organization controls nuclear stiffness.

Capsaicin camphor and caffeic acid reduce adipogenesis and promote lipolysis with TRPV1 involvement.

Regulatory Functions of TDP-43 and FMRP in Non-Neuronal Diseases: Are Co-Targeted mRNAs the Keys?

Cell-intrinsic mechanisms underlying spontaneous activity in the mouse visual cortical slice: implications for fragile X pathophysiology.

From Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.

A Novel STAG2 Frameshift Variant in Mullegama-Klein-Martinez Syndrome with Complex Conotruncal Heart Defect.

Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).

Disrupted theta synchronization and synaptic connectivity in the visual cortex of Fmr1 KO mice.

Effects of Metformin on children with Fragile X Syndrome: a randomized, double-blind, placebo-controlled trial.

Enhanced CB1 receptor function in GABAergic neurons mediates hyperexcitability and impaired sensory-driven synchrony of cortical circuits in Fragile X Syndrome model mice.

Early Pragmatic Communication in Autism and Fragile X Syndrome.

Evaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus.

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Monogenic defects in Russian children with autism spectrum disorders.

Cardiovascular Collapse During Scoliosis Surgery in a Patient With Coffin-Lowry Syndrome and Mesocardia.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Astrocytic Chromatin Remodeler ATRX Gates Hippocampal Memory Consolidation Through Metabolic and Synaptic Regulation.

Age-varying distinct neuroanatomy in young children with autism spectrum disorder and fragile X syndrome.

Nance-Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes.

Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects.

Improving women's healthcare providers' knowledge about fragile X-associated primary ovarian insufficiency through a novel educational tool.

Gene Therapy for Fragile X Syndrome, Challenges, and Promises.

Ghrelin restores D1 receptor-mediated dopamine neurotransmission and enhances attentive behaviour in Mecp2 KO mice.

The imperative for multigenerational genetic screening: A case report of fragile X-associated tremor/ataxia syndrome (FXTAS).

Aberrant hippocampal gamma oscillations in a mouse model of fragile X syndrome: insights from in vitro slice models.

Spermine synthase in Snyder-Robinson syndrome and cancer.

Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations.

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review.

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Evaluating the utility of growth differentiation factor 15 and fibroblast growth factor 21 as blood biomarkers for Rett syndrome.

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

Reactivation of Human X-Linked Gene and Stable X-Chromosome Inactivation Observed in Generation and Differentiation of iPSCs from a Female Patient with HNRNPH2 Mutation.

FRAXE-associated intellectual disability: clinical and molecular insights into an underdiagnosed condition.

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.

Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders.

Expanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.

Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1.

A family case of a rare Xq28 duplication.

Impact of brief telehealth interventions on parental stress and challenging behaviors of children with fragile X syndrome.

Novel MCT8 mutation: diagnostic value of T3/T4 ratio.

The Christianson syndrome protein, sodium hydrogen exchanger isoform 6, is required for fat accumulation.

Impaired thalamic burst firing in fragile X syndrome.

Adult-onset drug-resistant progressive epilepsy in a patient with novel MECP2 mutation.

Fmr1 knockout disrupts multiple intrinsic properties via reduced HCN channel activity in mediodorsal thalamocortical neurons.

Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review.

A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT).

Preliminary perspectives on gene therapy in fragile X syndrome: a caregiver view.

Learning impairments in Fmr1-/- mice on an audio-visual temporal pattern discrimination task.

ROC Analysis of Biomarker Combinations in Fragile X Syndrome-Specific Clinical Trials: Evaluating Treatment Efficacy via Exploratory Biomarkers.

Contrasting Relationships Between Anxiety and Intolerance of Uncertainty in Cornelia de Lange and Fragile X Syndromes.

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.

Mutation of MeCP2 at T158M Leads to Distinct Molecular and Phenotypic Abnormalities in Male and Female Mice.

Striking a delicate balance: ethical considerations and promising advances in timely diagnosis and patient safety for Hunter syndrome.

Lesch-Nyhan syndrome a dental approach: case report.

Neurobehavioral profile of individuals with pathogenic variants in CHD3.

A 30-Year Experience in Fragile X Syndrome Molecular Diagnosis from a Laboratory in Thailand.

Site-specific characterization of mannose-6-phosphate-containing N-glycans on recombinant idursulfase beta for lysosomal targeting in Hunter syndrome therapy.

Case Report: Cabezas syndrome caused by CUL4B gene mutations in two unrelated Chinese boys.

Electroretinographic Findings in Fragile X, Premutation, and Controls: A Study of Biomarker Correlations.

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid.

Effects of SLC6A8 mutation-induced creatine deficiency on cellular function in fibroblasts.

Attenuated orexinergic signaling underlies sleep-wake problems in a Mecp2-null mouse model of Rett syndrome.

Rett syndrome: Pathogenicity and regulation of MECP2 (human) and Mecp2 (mouse) genes and their protein products through various molecular mechanisms.

Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders.

5-mC DNA methylation in neurodevelopment: from molecular mechanisms to therapeutic implications.

Distinct and shared intrinsic resting-state functional networks in children with idiopathic autism spectrum disorder and fragile X syndrome.

Heart rate defined sustained attention relates to visual attention in autism and fragile X syndrome.

Phase separated condensates of ATRX regulate neural progenitor identity.

Integration of Ti3C2Tx MXene in the selection of DNA aptamers for FMRP for the diagnosis of fragile X syndrome.

Soy Protein Isolate Affects Blood and Brain Biomarker Expression in a Mouse Model of Fragile X.

FMRP drives mRNP targets into translationally silenced complexes.

Rett syndrome: advances in Understanding MeCP2 function, potential gene therapies, and public health implications.

Aberrant neural activation during inhibitory control in girls with fragile X syndrome.

Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study.

Unmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.

Altered auditory feature discrimination in a rat model of Fragile X Syndrome.

FMR1 KH0-KH1 domains coordinate m6A binding and phase separation in Fragile X syndrome.

Tiratricol: First Approval.

Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.

Altered Microglial Plasticity in the Periaqueductal Grey of Pre-Symptomatic Mecp2-Heterozygous Mice Following Early-Life Stress.

Molecular Insights into Neurological Regression with a Focus on Rett Syndrome-A Narrative Review.

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum.

Clinical variability in individuals with ATR-X syndrome in the Netherlands.

Structural insights into tRNA recognition of the human FTSJ1-THADA complex.

Interactome of FMRP-N-tat therapeutic unveils key interactions for cellular function in Fragile X neurons.

Behavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments.

A Transcriptomic Dataset of Embryonic Murine Telencephalon of Fmr1-Deficient Mice.

Novel STAG2 variant expands Mullegama-Klein-Martinez Syndrome phenotype.

Impaired persistence of cortical sensory adaptation following repetitive tactile stimulation in the hindlimb somatosensory cortex of Rett syndrome mice.

Potentiation of group III metabotropic glutamate receptors positively affects neurophysiological features in a mouse model of Rett syndrome.

ATRX ADD domain is a versatile module for recognizing macroH2A, H3, and beyond.

Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.

A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.

MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping.

A Computational Approach to Identify Novel Protein Targets Uncovers New Potential Mechanisms of Action of Mirtazapine S(+) and R(-) Enantiomers in Rett Syndrome.

Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort.

Exploring the Genetic Role of MECP2 Mutations on Phenotypic Presentation in Males: A Case Report.

Cortical layer-specific abnormalities in auditory responses in a mouse model of Fragile X Syndrome.

MECP2 duplication syndrome: Recent advances in pathophysiology and therapeutic perspectives.

Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.

Development and characterization of a Drosophila model of Snyder-Robinson syndrome.

Interpreting the rich dialogue between astrocytes and neurons: An overview in Rett syndrome.

Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X.

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

Sex-specific loss of mitochondrial membrane integrity in the auditory brainstem of a mouse model of Fragile X Syndrome.

[Clinical feature and genetic analysis of a case of X-linked alpha-thalassemia mental retardation syndrome neonate caused by ATRX gene variant and literature review].

Gene delivery of AGAT and GAMT boosts creatine levels in creatine transporter deficiency patient fibroblasts.

Cdkl5 Knockout Mice Recapitulate Sleep Phenotypes of CDKL5 Deficient Disorder.

Cardiological Manifestations in Males and Females Affected by NAA10 -Related Disease.

Transcriptomic profiling of unmethylated full mutation carriers implicates TET3 in FMR1 CGG repeat expansion methylation dynamics in fragile X syndrome.

De Novo Splice-Site Variant in DKC1 in a Female With Clinical Features of Hoyeraal-Hreidarsson Syndrome.

From pathology to therapy: A comprehensive review of ATRX mutation related molecular functions and disorders.

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

Essential lipids enrich membrane-associated condensates to rescue synaptic morpho-functional deficits in a mouse model of autism.

Synaptic disturbance in neurodevelopmental disorders: Perspectives from fragile X and Rett syndromes.

Multi-site investigation of gut microbiota in CDKL5 deficiency disorder mouse models: Targeting dysbiosis to improve neurological outcomes.

The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.

[Lesch-Nyhan syndrome in dizygotic twins].

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait.

Middle-Aged Women With Rett Syndrome: Longitudinal Profile From the British Isles Rett Syndrome Survey and Suggestions for Care.

Self-regulating gene therapy ameliorates phenotypes and overcomes gene dosage sensitivity in a mouse model of Rett syndrome.

Associations between plasma 24(S)-hydroxycholesterol and neuropsychological profile in fragile X syndrome.

Sudden infant death in a neonate with X-linked intellectual disability type Nascimento because of UBE2A deletion.

Sustained Epigenetic Reactivation in Fragile X Neurons with an RNA-Binding Small Molecule.

Tissue-Specific Effects of the DNA Helicase FANCJ/BRIP1/BACH1 on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders.

Therapeutic Effects of Pharmacological Modulation of Serotonin Brain System in Human Patients and Animal Models of Fragile X Syndrome.

Prosodic Differences in Women with the FMR1 Premutation: Subtle Expression of Autism-Related Phenotypes Through Speech.

Structural insights into thyroid hormone transporter MCT8.

A Blueprint for Translational Precision Medicine in Autism Spectrum Disorder and Related Neurogenetic Syndromes.

Allan-Herndon-Dudley Syndrome.

Atypical Ophthalmological Manifestations of Claes-Jensen Syndrome Without Intellectual Disability: A Case Report.

Rescue of respiratory and cognitive impairments in Rett Syndrome mice using NLX-101, a selective 5-HT1A receptor biased agonist.

Emerging autism and Fragile X syndrome treatments.

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

How a patient-led advocacy organization supports the road to diagnosis and treatment of creatine transporter deficiency.

Reduced Respiratory Sinus Arrhythmia in Infants with the FMR1 Premutation.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.

Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective.

Increased seizure susceptibility in thyroid hormone transporter Mct8/Oatp1c1 knockout mice is associated with altered neurotransmitter systems development.

Establishment of a human induced pluripotent stem cell line, KMUGMCi009-A, from a patient bearing a missense mutation in the MED12 gene leading X-linked Ohdo syndrome.

GABA transporter 1 is a promising drug target for CUL4B mutation-associated epilepsy.

Non-ionotropic signaling through the NMDA receptor GluN2B carboxy-terminal domain drives dendritic spine plasticity and reverses fragile X phenotypes.

A link between baseline neurofilament light chain and primary substrate accumulation in cerebrospinal fluid, and clinical outcomes in patients with MPS II from a phase 2/3 clinical trial and extension study of intrathecal idursulfase.

Shared Environment - Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without MECP2 Mutation.

How close are we to a cAMP- and cGMP-theory-based pharmacological therapy for fragile X syndrome?

Differential effects of sound repetition rate on auditory cortex development and behavior in fragile X syndrome mouse model.

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

Pain experience of children with Christianson syndrome.

Impairment in the homeostatic recruitment of layer 5/6 neurons following whisker stimulation in Fmr1 KO mice.

Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.

Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report.

The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes.

NEAT1-mediated regulation of proteostasis and mRNA localization impacts autophagy dysregulation in Rett syndrome.