• (1)H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of 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 of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing
• A clinical-translational review of sleep problems in neurodevelopmental disabilities
• A Rare Cause of Intellectual Disability
• A supervised learning method for classifying methylation disorders
• Adult Gene Therapy for Epilepsy in a Model of Angelman Syndrome: Hope or Hype?
• Age of diagnosis for children with chromosome 15q syndromes
• Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms
• Albinism
• An adapted clinical global Impression of improvement for use in Angelman syndrome: Validation analyses utilizing data from the NEPTUNE study
• Angelman Syndrome
• Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study
• Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics
• Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy
• Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry
• 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
• 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
• Cobalamins Function as Allosteric Activators of an Angelman Syndrome-Associated UBE3A/E6AP Variant
• Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome
• Considerations for treating autistic individuals in gastroenterology clinics
• Contextual fear memory impairment in Angelman syndrome model mice is associated with altered transcriptional responses
• Current and emerging treatment options for Angelman syndrome
• Developmental milestones and daily living skills in individuals with Angelman syndrome
• Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?
• Does the registry speak your language? A case study of the Global Angelman Syndrome Registry
• Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
• 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
• Epigenetics in rare neurological diseases
• Epilepsy, EEG and chromosomal rearrangements
• Epileptic Encephalopathy <em>GABRB</em> Structural Variants Share Common Gating and Trafficking Defects
• Establishing a Standardized DNA Extraction Method Using NaCl from Oral Mucosa Cells for Its Application in Imprinting Diseases Such as Prader-Willi and Angelman Syndromes: A Preliminary Investigation
• 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 the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry
• 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
• Generation of three iPSC lines with inducible systems to be used in Angelman syndrome research
• Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
• Genetic testing in adults with developmental and epileptic encephalopathy - what do we know?
• Genotype-phenotype correlation over time in Angelman syndrome: researching 134 patients
• Gut microbes in central nervous system development and related disorders
• High-dose systemic adeno-associated virus vector administration causes liver and sinusoidal endothelial cell injury
• Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome
• 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
• Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons
• Interlinked destinies: How ubiquitin-proteasome and autophagy systems underpin neurocognitive outcomes
• Light activates Ube3a, an Angelman syndrome-associated gene, by mediating the chromatin structures during postnatal development of mouse retina
• Linking Angelman and dup15q data for expanded research (LADDER) database: a model for advancing research, clinical guidance, and therapeutic development for rare conditions
• Long-term effectiveness and seizure recurrence risk factors of ketogenic diet for pediatric refractory epilepsy: Experience from a tertiary care center in China
• Mandibular Distraction in Dual Syndromic Diagnosis
• Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome
• Melatonin in Neurodevelopmental Disorders: A Critical Literature Review
• NanoImprint: A DNA methylation tool for clinical interpretation and diagnosis of common imprinting disorders 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-β precursor protein APPly
• Neurodevelopmental Disorders Associated with Gut Microbiome Dysbiosis in Children
• Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome
• Outcome measures in Angelman syndrome
• Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study
• Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model
• Population-based Risk of Psychiatric Disorders Associated with Recurrent CNVs
• Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants
• Precision medicine in Angelman syndrome
• 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
• 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
• Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey
• Relationship between strabismus associated with Angelman syndrome and orbital anomaly
• Relationship of thyroid function with genetic subtypes and treatment with growth hormone in Prader-Willi syndrome
• 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
• Successful use of cannabidiol in nonconvulsive status epilepticus in Angelman syndrome
• 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 unsilencer for the potential treatment of Angelman syndrome
• UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies
• Understanding reliability of the observer-reported communication ability measure within Angelman syndrome through the lens of generalizability theory
• Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey
• VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders
• When they just don't sleep: differential impacts of reduced child sleep on depression, anxiety, and stress among caregivers of children with and without neurogenetic syndromes
• Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III