Disease: X-linked mental retardation associated with marXq2
- 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 ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
- Adult Inception of Ketogenic Diet Therapy Increases Sleep during the Dark Cycle in C57BL/6J Wild Type and Fragile X Mice
- Advancing clinical development for neuronopathic Hunter syndrome through a quantitatively-driven reverse translation framework
- An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
- Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome
- Atypical brain responses to 40-Hz click trains in girls with Rett syndrome: Auditory steady-state response and sustained wave
- Autistic Traits Associated with the Fragile X Premutation Allele: The Neurodevelopmental Profile
- Bilateral Bow Hunter Syndrome Associated with Loss of Cervical Physiological Curvature
- Brainstem Gliomas With Isocitrate Dehydrogenase Mutation: Natural History, Clinical-Radiological Features, Management Strategy, and Long-Term Outcome
- Burden of illness in Rett syndrome: initial evaluation of a disorder-specific caregiver survey
- Calcium-Dependent Regulation of Neuronal Excitability Is Rescued in Fragile X Syndrome by a Tat-Conjugated N-Terminal Fragment of FMRP
- Cannabidiol and positive effects on object recognition memory in an in vivo model of Fragile X Syndrome: Obligatory role of hippocampal GPR55 receptors
- Challenges in developing therapies in fragile X syndrome: how the FXLEARN trial can guide research
- Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes
- Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability
- 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
- Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome
- Developmental associations between cognition and adaptive behavior in intellectual and developmental disability
- Diffusion Tensor Imaging in Boys With Adrenoleukodystrophy: Identification of Cerebral Disease and Association With Neurocognitive Outcomes
- Distributed X chromosome inactivation in brain circuitry is associated with X-linked disease penetrance of behavior
- EEG connectivity patterns in response to gaming and learning-based cognitive stimulations in Rett syndrome
- Electrical Synapses Mediate Embryonic Hyperactivity in a Zebrafish Model of Fragile X Syndrome
- Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders
- Enlarged perivascular spaces and their association with motor, cognition, MRI markers and cerebrovascular risk factors in male fragile X premutation carriers
- Exposure-Response Efficacy Modeling to Support Trofinetide Dosing in Individuals with Rett Syndrome
- Extending MeCP2 interactome: canonical nucleosomal histones interact with MeCP2
- Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
- 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
- Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry
- FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development
- Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back
- Fragile X Syndrome and FMR1 premutation: results from a survey on associated conditions and treatment priorities in Italy
- Fragile X-associated tremor/ataxia syndrome treated with multitarget deep brain stimulation
- Genetic analysis of a pedigree with MECP2 duplication syndrome in China
- 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
- Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report
- Identification of Predictors for Progression of Scoliosis in Rett Syndrome
- ILAE neuroimaging task force highlight: Subcortical laminar heterotopia
- Imbalance between hippocampal projection cell and parvalbumin interneuron architecture increases epileptic susceptibility in mouse model of methyl CpG binding protein 2 duplication syndrome
- Implication of the endocannabidiome and metabolic pathways in fragile X syndrome pathophysiology
- In vivo adenine base editing rescues adrenoleukodystrophy in a humanized mouse model
- Increased Proteolytic Activity of Serratia marcescens Clinical Isolate HU1848 Is Associated with Higher eepR Expression
- Investigating the structural and functional consequences of germline single nucleotide polymorphisms located in the genes of the alternative lengthening of telomere (ALT) pathway
- Is trofinetide a future treatment for Rett syndrome? A comprehensive systematic review and meta-analysis of randomized controlled trials
- 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
- Latest Developments in Magnetic Resonance Imaging for Evaluating the Molecular Microenvironment of Gliomas
- 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
- Magnetic Nanoparticle-Assisted Non-Viral CRISPR-Cas9 for Enhanced Genome Editing to Treat Rett Syndrome
- Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach
- Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
- Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in <em>Drosophila</em>
- 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 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
- 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
- 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
- Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
- Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
- Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up
- 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)
- 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
- Predominant cardiac sympathetic modulation during wake and sleep in patients with Rett syndrome
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues
- Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications
- qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndrome
- Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in Rett syndrome
- Remodeling of perturbed chromatin can initiate de novo transcriptional and post-transcriptional silencing
- 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
- Role of fragile X messenger ribonucleoprotein 1 in the pathophysiology of brain disorders: a glia perspective
- 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
- Sex differences during development in cortical temporal processing and event related potentials in wild-type and fragile X syndrome model mice
- Social Communication Delay in an Unbiased Sample of Preschoolers With the <em>FMR1</em> Premutation
- The Efficacy of Noninvasive Ventilation in Patients Affected by Rett Syndrome With Hypoventilation
- The use of ketogenic diets in children living with drug-resistant epilepsy, glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency: A scoping review
- 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
- Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene
- Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome
- 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
- Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease
- 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 intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion