• A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
• A pilot study of newborn screening for X-linked adrenoleukodystrophy based on liquid chromatography-tandem mass spectrometry method for detection of C26:0-lysophosphatidylcholine in dried blood spots: Results from 43,653 newborns in a southern Chinese pop
• A Postmortem MRI Study of Cerebrovascular Disease and Iron Content at End-Stage of Fragile X-Associated Tremor/Ataxia Syndrome
• An extremely rare case of Oro-facial digital syndrome: A case report
• Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
• Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study
• Circadian Rhythm and Sleep Analyses in a Fruit Fly Model of Fragile X Syndrome Using a Video-Based Automated Behavioral Research System
• Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<em>SLC6A8</em>)
• Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability
• Cognitive and adaptive behaviors associated with disease severity and genotype in patients with mucopolysaccharidosis II
• Common Peroneal Nerve and Tarsal Tunnel Release Surgery in an Adolescent Male with Hunter Syndrome: Illustrative Case
• Danon Disease: Entire <em>LAMP2</em> Gene Deletion with Unusual Clinical Presentation-Case Report and Review of the Literature
• Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive Outcomes
• Discovering functionally important sites in proteins
• Diverse Clinical Phenotypes of <em>CASK</em>-Related Disorders and Multiple Functional Domains of CASK Protein
• Early metformin treatment: An effective approach for targeting fragile X syndrome pathophysiology
• Editorial for the Fragile X Syndrome Genetics Special Issue: May 2023
• Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study
• Electroencephalographic assessment in patients with Rett syndrome during cognitive stimulation by means of eye tracking technology and alternative and augmentative communication systems
• Elevated levels of FMRP-target MAP1B impair human and mouse neuronal development and mouse social behaviors via autophagy pathway
• Endogenous noise of neocortical neurons correlates with atypical sensory response variability in the Fmr1^-/y mouse model of autism
• Endovascular treatment in Danon disease: a case report
• Evaluation of Novel Enhancer Compounds in Gentamicin-Mediated Readthrough of Nonsense Mutations in Rett Syndrome
• Expression of neuroendocrine markers predicts increased survival in triple-negative breast cancer patients
• Expression of Transposable Elements in the Brain of the <em>Drosophila melanogaster</em> Model for Fragile X Syndrome
• Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back
• Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families
• Genetic analysis of a pedigree with MECP2 duplication syndrome in China
• Gut microbiota profile in CDKL5 deficiency disorder patients
• H3 K27-altered diffuse midline glioma of the thalamus with formation of glio-fibrillary globular structures
• Haploidentical hematopoietic stem cell transplantation with busulfan, cyclophosphamide, and fludarabine conditioning for X-linked adrenal cerebral leukodystrophy
• Hemizygous splicing variant in CNKSR2 results in X-linked intellectual developmental disorder
• Hyperacusis in the Adult <em>Fmr1</em>-KO Mouse Model of Fragile X Syndrome: The Therapeutic Relevance of Cochlear Alterations and BKCa Channels
• Identification of a DLG3 stop mutation in the MRX20 family
• Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome
• Intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study
• Lack of FMRP in the retina: Evidence of a retinal specific transcriptomic profile
• Large-Scale Whole Genome Sequence Analysis of &gt;22,000 Subjects Provides no Evidence of <em>FMR1</em> Premutation Allele Involvement in Autism Spectrum Disorder
• Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
• Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach
• Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact
• Multi-level profiling of the Fmr1 KO rat unveils altered behavioral traits along with aberrant glutamatergic function
• Multidisciplinary Management of Rett Syndrome: Twenty Years' Experience
• Multiple Roles of dXNP and dADD1-<em>Drosophila</em> Orthologs of ATRX Chromatin Remodeler
• Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study
• Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy
• Newborn screening for adrenoleukodystrophy: International experiences and challenges
• Novel Variant in the <em>USP9X</em> Gene Is Associated with Congenital Heart Disease in a Male Patient: A Case Report and Literature Review
• Ovarian reserve in patients with FMR1 gene premutation and the role of fertility preservation
• Rett-like Phenotypes in <em>HNRNPH2</em>-Related Neurodevelopmental Disorder
• Serum matrix metalloproteinase-9 (MMP9) and amyloid-beta protein precursor (APP) as potential biomarkers in children with Fragile-X syndrome: A cross sectional study
• Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations
• Tau reduction attenuates autism-like features in Fmr1 knockout mice
• The Impact of Mild Chronic Stress and Maternal Experience in the <em>Fmr1</em> Mouse Model of Fragile X Syndrome
• Understanding the molecular profiling of diffuse gliomas classification: A brief overview
• Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
• Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
• Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease
• X-linked adrenoleukodystrophy and primary adrenal insufficiency