Disease: Angelman syndrome
- <em>VAMP2</em> Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders
- "Heal the sick": Health status and caregiving during the 17th-18th century in Northern Italy (St. Biagio cemetery, Ravenna)
- A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations
- A novel remote monitoring device recapitulates sleep patterns in angelman syndrome
- A PSD-95 peptidomimetic mitigates neurological deficits in a mouse model of Angelman syndrome
- A Rare Cause of Intellectual Disability
- A supervised learning method for classifying methylation disorders
- Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition
- Adult Gene Therapy for Epilepsy in a Model of Angelman Syndrome: Hope or Hype?
- Age of diagnosis for children with chromosome 15q syndromes
- Albinism
- An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study
- An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript
- An Optimal Stacked ResNet-BiLSTM-Based Accurate Detection and Classification of Genetic Disorders
- Anesthetic considerations for vagal nerve stimulator implantation in children with Angelman syndrome
- Angelman Syndrome
- Angelman syndrome in adulthood
- Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
- Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice
- Autophagy dysregulation via the USP20-ULK1 axis in the HERC2-related neurodevelopmental disorder
- Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child
- Azadiradione up-regulates the expression of parvalbumin and BDNF via Ube3a
- Behavioral Characterization of an Angelman Syndrome Mouse Model
- Blunted type-5 metabotropic glutamate receptor-mediated polyphosphoinositide hydrolysis in two mouse models of monogenic autism
- Bone health in children with Angelman syndrome at the ENCORE Expertise Center
- Child characteristics associated with child quality of life and parenting stress in Angelman syndrome
- Chromosomal Aberrations in Pediatric Patients With Moderate/Severe Developmental Delay/Intellectual Disability With Abundant Phenotypic Heterogeneities: A Single-Center Study
- Cobalamins Function as Allosteric Activators of an Angelman Syndrome-Associated UBE3A/E6AP Variant
- Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
- Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses
- Crosslinked Chitosan Nanoparticles with Muco-Adhesive Potential for Intranasal Delivery Applications
- Current and emerging treatment options for Angelman syndrome
- Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development
- Diagnosis and treatment of Angelman syndrome
- Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay
- Does the registry speak your language? A case study of the Global Angelman Syndrome Registry
- Drosophila UBE3A regulates satiety signaling through the Piezo mechanosensitive ion channel
- Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
- Editorial: New challenges and future perspectives in pathological conditions
- Effects of valproate on seizure-like activity in <em>Drosophila melanogaster</em> with a knockdown of <em>Ube3a</em> in different neuronal populations as a model of Angelman Syndrome
- Effects of valproate on seizure-like activity in Drosophila melanogaster with a knockdown of Ube3a in different neuronal populations as a model of Angelman Syndrome
- Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders
- Elevated ROS levels during the early development of Angelman syndrome alter the apoptotic capacity of the developing neural precursor cells
- Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS)
- Enhancing diversity of clinical trial populations in multiple sclerosis
- Epileptic Encephalopathy <em>GABRB</em> Structural Variants Share Common Gating and Trafficking Defects
- Evaluation of noninvasive prenatal screening for copy number variations among screening laboratories
- Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region
- Exploring an objective measure of overactivity in children with rare genetic syndromes
- Exploring Communication Ability in Individuals With Angelman Syndrome: Findings From Qualitative Interviews With Caregivers
- Factors associated with sleep disturbances in children and adolescents with Angelman Syndrome
- Gaboxadol in angelman syndrome: A double-blind, parallel-group, randomized placebo-controlled phase 3 study
- Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells
- Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
- Gut microbes in central nervous system development and related disorders
- H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome
- Health-related quality of life and medication use among individuals with Angelman syndrome
- Heterogeneity of Autism Characteristics in Genetic Syndromes: Key Considerations for Assessment and Support
- High-dose systemic adeno-associated virus vector administration causes liver and sinusoidal endothelial cell injury
- Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
- Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families
- Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model
- Imprinting disorders
- In situ combinatorial synthesis of degradable branched lipidoids for systemic delivery of mRNA therapeutics and gene editors
- Integration of CTCF Loops, Methylome, and Transcriptome in Differentiating LUHMES as a Model for Imprinting Dynamics of the 15q11-q13 Locus in Human Neurons
- Light activates Ube3a, an Angelman syndrome-associated gene, by mediating the chromatin structures during postnatal development of mouse retina
- Long-term effectiveness and seizure recurrence risk factors of ketogenic diet for pediatric refractory epilepsy: Experience from a tertiary care center in China
- Melatonin in Neurodevelopmental Disorders: A Critical Literature Review
- NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disordersĀ using nanopore long-read sequencing
- Neural hyperexcitability in Angelman syndrome: Genetic factors and pharmacologic treatment approaches
- Neurodevelopmental disorders and microcephaly: how apoptosis, the cell cycle, tau and amyloid-Ī² precursor protein APPly
- Outcome measures in Angelman syndrome
- Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study
- Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs
- Prader-Willi and Angelman Syndromes: Mechanisms and Management
- Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice
- Presynaptic Ube3a E3 ligase promotes synapse elimination through down-regulation of BMP signaling
- Protein Accumulation and Impaired Autophagy Underlie Cognitive Dysfunction in Angelman Syndrome
- Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews
- Quality of Life in Angelman Syndrome: A Caregivers' Survey
- Quantitative measures of motor development in Angelman syndrome
- Relationship between strabismus associated with Angelman syndrome and orbital anomaly
- Semi-Automatic Assessment of Vocalization Quality for Children With and Without Angelman Syndrome
- Short Stature and Distinct Growth Characteristics in Angelman Syndrome
- Sleep disturbance in Angelman syndrome patients
- Specificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions
- Stem cell models of Angelman syndrome
- Structural insights into the functional mechanism of the ubiquitin ligase E6AP
- Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
- Structure-based design of peptidomimetic inhibitors of PSD-95 with improved affinity for the PDZ3 domain
- Structure-based development of new cyclic compounds targeting PSD-95 PDZ3 domain
- The Multiple Odysseys in Research and Clinical Care for Neurogenetic Conditions
- The Type, Severity, and Impact of Sleep Problems in Children With Angelman Syndrome and Parental Help-seeking Patterns
- Translational research for the development of treatment of patients with neurogenetic diseases: An important step for Angelman syndrome
- Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
- UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies
- Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases
- Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey
- Validation of the Observer-Reported Communication Ability (ORCA) Measure for Individuals With Angelman Syndrome
- VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders