Disease: X-linked mental retardation associated with marXq2
- "We are not a typical family anymore": Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia
- A holistic approach to fragile X syndrome integrated guidance for person-centred care
- A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
- A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels
- A Pathogenic LAMP2 Non-Canonical Splice Site Mutation Caused Danon Disease Requiring Heart Transplantation
- Adenosinergic System and BDNF Signaling Changes as a Cross-Sectional Feature of RTT: Characterization of <em>Mecp2</em> Heterozygous Mouse Females
- Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively-driven reverse translation framework
- Altered Splicing of <em>LAMP2</em> in a Multigenerational Family from Latvia Affected by Danon Disease
- An Exploratory Study of Pragmatic Language Use Across Contexts With the Pragmatic Rating Scale-School Age Among Autistic Boys and Boys With Fragile X Syndrome Plus Autism
- An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report
- Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy
- Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature
- Bisphenol F affects neurodevelopmental gene expression, mushroom body development, and behavior in Drosophila melanogaster
- 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
- Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)
- Cholesterol alterations in fragile X syndrome, autism spectrum disorders and other neurodevelopmental disorders
- Clinical Research on Rett Syndrome: Central Hypoxemia and Hypokalemic Metabolic Alkalosis
- Cognition, academic achievement, and adaptive behavior in school-aged girls with fragile X syndrome
- Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
- Complex interplay between FMRP and DHX9 during DNA replication stress
- Deciphering neuronal deficit and protein profile changes in human brain organoids from patients with creatine transporter deficiency
- Defects in AMPAR trafficking and microglia activation underlie socio-cognitive deficits associated to decreased expression of phosphodiesterase 2 a
- Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency
- Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
- Developmental Impairments of Synaptic Refinement in the Thalamus of a Mouse Model of Fragile X Syndrome
- Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior
- Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8
- Exploration of SUMO2/3 Expression Levels and Autophagy Process in Fragile X-Associated Tremor/Ataxia Syndrome: Addressing Study Limitations and Insights for Future Research
- Exploring the role of the Kölliker-Fuse nucleus in breathing variability by mathematical modelling
- Exposure-Response Efficacy Modeling to Support Trofinetide Dosing in Individuals with Rett Syndrome
- Expression of neuroendocrine markers predicts increased survival in triple-negative breast cancer patients
- 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 phosphorylation modulates neuronal translation through YTHDF1
- Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back
- FXTAS Neuropathology Includes Widespread Reactive Astrogliosis and White Matter Specific Astrocyte Degeneration
- Gastrointestinal manifestations in pediatric and adult patients with Rett syndrome: an analysis of US claims and physician survey data
- Generation of induced pluripotent stem line (MIPTi001-A) derived from patient with X-linked adrenoleukodystrophy (X-ALD)
- Genetic analysis of a pedigree with MECP2 duplication syndrome in China
- Gut microbiome and metabolic profiles of mouse model for MeCP2 duplication syndrome
- Helicases in R-loop Formation and Resolution
- Hyperexcitability in the Olfactory Bulb and Impaired Fine Odor Discrimination in the <em>Fmr1</em> KO Mouse Model of Fragile X Syndrome
- Hypersensitivity to Distractors in Fragile X Syndrome from Loss of Modulation of Cortical VIP Interneurons
- Identification of a DLG3 stop mutation in the MRX20 family
- ILAE neuroimaging task force highlight: Subcortical laminar heterotopia
- Imaging the binding of MECP2 to DNA
- Increased Proteolytic Activity of Serratia marcescens Clinical Isolate HU1848 Is Associated with Higher eepR Expression
- Integrated omics analyses clarifies ATRX copy number variant of uncertain significance
- International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review
- 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
- KIF5B plays important roles in dendritic spine plasticity and dendritic localization of PSD95 and FMRP in the mouse cortex in vivo
- Language Skills Influence Transition Planning in Adolescents With Fragile X Syndrome
- Latest Developments in Magnetic Resonance Imaging for Evaluating the Molecular Microenvironment of Gliomas
- Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage
- Leukodystrophy Imaging: Insights for Diagnostic Dilemmas
- Loss-of-function variant in spermidine/spermine N1-acetyl transferase like 1 (SATL1) gene as an underlying cause of autism spectrum disorder
- Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact
- Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders
- Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients
- Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients
- Molecular species profiles of plasma ceramides in different clinical types of X-linked adrenoleukodystrophy
- Moya moya vasculopathy and MECP2 duplication syndrome
- Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc
- Multi-level profiling of the Fmr1 KO rat unveils altered behavioral traits along with aberrant glutamatergic function
- Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method
- Neurodegeneration of White and Gray Matter in the Hippocampus with FXTAS
- Newborn screening for adrenoleukodystrophy: International experiences and challenges
- Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report
- Ommaya reservoir placement using ultrasound guidance via anterior fontanelle combined with frameless electromagnetic neuronavigation in patients with mucopolysaccharidosis type 2: Case reports and review of the literature
- On-Tissue Spatial Proteomics Integrating MALDI-MS Imaging with Shotgun Proteomics Reveals Soy Consumption-Induced Protein Changes in a Fragile X Syndrome Mouse Model
- Paediatric hypertrophic cardiomyopathy secondary to Danon disease
- Parental age effects and Rett syndrome
- Parental Responsivity and Child Communication During Mother-Child and Father-Child Interactions in Fragile X Syndrome
- Patient-reported impact of symptoms in adrenoleukodystrophy (PRISM-ALD)
- PGT-M for Premature Ovarian Failure Related to CGG Repeat Expansion of the <em>FMR1</em> Gene
- Potential Prodromal Digital Postural Sway Markers for Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) Detected via Dual-Tasking and Sensory Manipulation
- Progress in leukodystrophies with zebrafish
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues
- Real-world clinical management of individuals with Rett syndrome: a physician survey
- Response of Fibroblasts from Menkes' and Wilson's Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase
- Rett and Rett-related disorders: Common mechanisms for shared symptoms?
- Rett syndrome in Ireland: a demographic study
- RNA structure promotes liquid-to-solid phase transition of short RNAs in neuronal dysfunction
- Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans
- Role of plant homeodomain finger protein 8 in P19 embryonic carcinoma cells revealed by genome editing and specific inhibitor
- Safety and efficacy of trofinetide in Rett syndrome: a systematic review and meta-analysis of randomized controlled trials
- Sleep and the Social Profiles of Individuals With Rett Syndrome
- Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome
- Structural Dynamics Role of AGG Interruptions in Inhibition CGG Repeat Expansion Associated with Fragile X Syndrome
- Tau reduction attenuates autism-like features in Fmr1 knockout mice
- The Efficacy of a Human-Ready mini<em>MECP2</em> Gene Therapy in a Pre-Clinical Model of Rett 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
- Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome
- Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions
- Variable expression of <em>MECP2, CDKL5,</em> and <em>FMR1</em> in the human brain: Implications for gene restorative therapies
- 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
- X-linked adrenoleukodystrophy and primary adrenal insufficiency