Disease: Mental retardation X-linked syndromic 7
- A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss
- Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity
- Algorithmic approach utilizing histology and immunohistochemistry for the current classification of diffuse glioma
- Alteration of monoaminergic systems in the caudal medulla and its possible link to diurnal increase of apnea in a mouse model of Rett syndrome
- Behavioural and physiological indicators of anxiety reflect shared and distinct profiles across individuals with neurogenetic syndromes
- Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment
- Characterization of a HIR-Fab-IDS, Novel Iduronate 2-Sulfatase Fusion Protein for the Treatment of Neuropathic Mucopolysaccharidosis Type II (Hunter Syndrome)
- Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (<em>SLC6A8</em>)
- Deregulation of ER-mitochondria contact formation and mitochondrial calcium homeostasis mediated by VDAC in fragile X syndrome
- Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
- Diagnostic algorithm for pathological evaluation of gliomas in a resource-constrained setting
- Diet and Nutritional Status of Polish Girls with Rett Syndrome-A Case-Control Study
- Effect of presentation rate on auditory processing in Rett syndrome: event-related potential study
- Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome
- Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2
- FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study
- FMRP expression in primary breast tumor cells correlates with recurrence and specific site of metastasis
- Fragile X Syndrome and Fetal Alcohol Syndrome: Occurrence of Dual Diagnosis in a Set of Triplets
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration
- Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome
- Genotype and sleep independently predict mental health in Rett syndrome: an observational study
- Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome
- Image Omics Nomogram Based on Incoherent Motion Diffusion-Weighted Imaging in Voxels Predicts ATRX Gene Mutation Status of Brain Glioma Patients
- Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome
- Latest Developments in Magnetic Resonance Imaging for Evaluating the Molecular Microenvironment of Gliomas
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
- MeCP2 dysfunction prevents proper BMP signaling and neural progenitor expansion in brain organoid
- MECP2 germline mosaicism plays an important part in the inheritance of Rett syndrome: a study of MECP2 germline mosaicism in males
- mGluR7 allosteric modulator AMN082 corrects protein synthesis and pathological phenotypes in FXS
- Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
- Naringin corrects renal failure related to Lesch-Nyhan disease in a rat model via NOS-cAMP-PKA and BDNF/TrkB pathways
- Novel presynaptic assay system revealed that metformin ameliorates exaggerated synaptic release and Munc18-1 accumulation in presynapses of neurons from Fragile X syndrome mouse model
- Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome
- Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders
- Prevalence of Endocrinopathies in a Cohort of Patients with Rett Syndrome: A Two-Center Observational Study
- Rett Syndrome Behaviour Questionnaire in Children and Adults With Rett Syndrome: Psychometric Characterization and Revised Factor Structure
- RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction
- The clinical and sleep manifestations in children with FOXG1 syndrome
- The impact of Chinese COVID-19 pandemic on the incidence of peripheral facial nerve paralysis after optimizing policies
- Treatment guidelines for rare, early-onset conditions associated with epileptic seizures: a literature review on Rett syndrome and tuberous sclerosis complex
- Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
- Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett 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
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions
- YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse