Emerging disease-modifying therapies for Angelman syndrome: A comprehensive review for pediatric neurologists.

Social support and maternal caregiving burden in families of children with Angelman syndrome in China: the mediating role of self-stigma.

Tuberous sclerosis complex.

A de Novo Genome Assembly of an Angelman Syndrome Pig (sus Scrofa Domesticus) Model to Resolve SNHG14.

Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.

Unlocking the potential of multidisciplinary clinics to transform rare epilepsies care, insights, and research.

RNAi-Induced Expression of Paternal UBE3A.

Caregiver Meaningful Score Differences and Meaningful Score Regions for the Observer-Reported Communication Ability Measure for Individuals with Angelman Syndrome.

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.

Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.

Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.

The serotonin receptor 7 as an emerging target to restore altered neuroplasticity in Angelman syndrome.

Clinical Presentation, Genetics, and Laboratory Testing with Integrated Genetic Analysis of Molecular Mechanisms in Prader-Willi and Angelman Syndromes: A Review.

Advances and challenges of precision epigenetic therapy in treating genomic imprinting diseases.

UBE3A isoform-selective and non-selective contributions to Angelman syndrome phenotypes.

A dual-reporter mouse for therapeutic discovery in Angelman syndrome.

Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.

Association of the Observer-Reported Communication Ability (ORCA) Measure with Established Communication Measures: Insights From the Angelman Syndrome Natural History Study.

A systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events.

Predictors of communication ability in Angelman syndrome: evidence from Polish individuals.

Loss of Drosophila UBE3A phenocopies Piezo dysfunction and drives hyperphagic feeding in Drosophila.

The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.

Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome Using a Delphi Panel.

Generation of human pineal gland organoids with melatonin production for disease modeling.

Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.

Clinical and Genetic Profiles of 11 Chinese Patients With Angelman Syndrome.

Microstructural White Matter Alterations in Angelman Syndrome: A Fixel-Based Analysis.

Extracellular vesicle dysfunction contributes to synaptic and cognitive deficits in a mouse model of Angelman syndrome.

Advancing observer-reported outcome measurement: development of the MOOD-AS for observing distress in Angelman syndrome.

Long-Term Modulation of Cortical Excitability by Repeated Anodal Transcranial Direct Current Stimulation Highlights Neurobiological Constraints in a Neurodevelopmental Disorder Model.

Psychological and psychiatric service use among family caregivers of individuals with Angelman Syndrome: A cross-sectional study.

UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome.

Dysfunction of the Autophagy System and MDM2-p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models.

Brain-wide Genome Editing via STEP-RNPs for Treatment of Angelman Syndrome.

Ad astra per aspera: treatment challenges and opportunities for children with spinal muscular atrophy and tracheostomy.

Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome.

Behavioral and molecular insights into anxiety in ube3a and fmr1 zebrafish models of autism spectrum disorders.

RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.

Angelman Syndrome With Papillary Urothelial Carcinoma: An Unusual Initial Presentation and Two Recurrences.

Development of the Angelman syndrome video assessment: quantifying meaningful change.

A prodrug targeting CIM6P/IGF2R enhances memory in healthy mice and reverses deficits in an Angelman syndrome mouse model.

Experience-Dependent Plasticity to Visual Sequences in Mouse Anterior Cingulate Cortex Reflects Familiarity.

Imprinting Disorders and Epigenetic Alterations in Children Conceived by Assisted Reproductive Technologies: Mechanisms, Clinical Outcomes, and Prenatal Diagnosis.

A luminescence-based biosensor to measure endogenous UBE3A activity.

Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study.

NIPA1 depletion in tumor-associated macrophages via IGFBP2/EGFR attenuates acute myeloid leukemia progression and chemoresistance.

Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome.

Cofilin Inhibition Ameliorates PIEZO2 and AMPA Dysfunction in a Mouse Model of Angelman Syndrome.

Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome.

Periodic and aperiodic contributions to EEG delta power are translatable and complementary Angelman syndrome biomarkers.

Open-label phase IV trial evaluating nusinersen after onasemnogene abeparvovec in children with spinal muscular atrophy.

A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15.

Dysregulation of Neuronal Activity-Dependent Immediate Early Genes in a Mouse Model of Angelman Syndrome.

A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal UBE3A reporter.

Behavior Decoding Delineates Seizure Microfeatures and Associated Sudden Death Risks in Mouse Models of Epilepsy.

Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes.

Mutation of ube3a causes developmental abnormalities and autism-like molecular and behavioral alterations in zebrafish.

AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription.

Measuring Childhood Disability Using the National Health Interview Survey.

Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.

Environmental context modulates sociability in ube3a zebrafish mutants via alterations in sensory pathways.

Angelman syndrome patient-derived neuron screen leads to clinical ASO rugonersen targeting UBE3A-ATS with long-lasting effect in monkeys.

Atypical alpha oscillatory EEG dynamics in children with Angelman syndrome.

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects.

Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE-SWAS and Phenotype Expansion in Male Patients.

Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.

Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.

A pig model of Angelman syndrome.

Early-Onset 15q11.2 Microdeletion Syndrome in a Six-Year-Old Child: A Case Report of Refractory Epilepsy, Autism, and Multisystem Manifestations.

High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems.

Prolonged Penile Erection in an Adolescent with Angelman Syndrome under Aripiperazole: A Case Report.

Outcomes After Tonsillectomy in Children With Angelman Syndrome.

Paternal UPD (15) With Disease-Causing Mutation and Small Supernumerary Ring Chromosome 15: A Case Report.

Preclinical pharmacology of alogabat: a novel GABAA-α5 positive allosteric modulator targeting neurodevelopmental disorders with impaired GABAA signaling.

[Example of a genetic condition caused by an imprinting disorder: Angelman syndrome].

Drug Repurposing Patent Applications October-December 2024.

A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.

Conformational flexibility and rotational binding shifts in W104C mutant MECP2-DNA complexes: A molecular simulation study.

Cannabidiol Intervention for Non-Epileptic Myoclonus in Angelman Syndrome: A Case Report.

The Ubiquitin E3 Ligase UBE3A Regulates GRIPAP1 and PACSIN1 Proteins Linked to the Endocytic Recycling of AMPA Receptors.

Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes.

The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.

Angelman Syndrome: Multidisciplinary Management.

Mechanism of EHMT2-mediated genomic imprinting associated with Prader-Willi syndrome.

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome.

Oral health care of people with Angelman syndrome in Germany - a questionnaire-based study.

Significance of Behavioural Problems on Family Impact in Angelman Syndrome: A Prospective Cross-Sectional Study.

Language comprehension assessment using the computer-based instrument for low motor language testing (C-BiLLT) in children with Angelman syndrome.

Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis-Free DNA Methylation Profiling.

Epileptic seizures and EEG findings in 3p deletion syndrome involving SLC6A1.

Emerging roles for E3 ubiquitin ligases in neural development and disease.

Health outcomes of children with Prader-Willi or Angelman syndromes: a European population-based multicentre study.

When Vomiting Isn't Just a Bug: Unmasking Two Rare Causes of Pediatric Dysphagia.

Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items.

Caregiving Burden and Quality of Life Among Parents of Individuals With Angelman Syndrome: Gender Differences and the Impact of Financial Well-Being.

Loss of UBE3A impacts both neuronal and non-neuronal cells in human cerebral organoids.

Hexasomy of the 15q11q13 region: a detailed report and review of the literature.

Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controls.

Remote EEG acquisition in Angelman syndrome using PANDABox-EEG.

Novel method for detection of UBE3A protein in CSF from individuals with Angelman syndrome.

Facial expression deep learning algorithms in the detection of neurological disorders: a systematic review and meta-analysis.

Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome.

[Sleep disorders in imprinting disorders].

Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome.

Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A.

Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study.

Activity-dependent degradation of Kv4.2 contributes to synaptic plasticity and behavior in Angelman syndrome model mice.

Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy.

Dietary Intake of Octanoic Acid Restores UBE3A Expression and Improves the Behavioral Phenotypes in a Mouse Model of Angelman Syndrome.

Dynamic shift in localization of UBE3A across developmental stages in an Angelman syndrome mouse model.

Mom genes and dad genes: genomic imprinting in the regulation of social behaviors.

New Insights into Chromosomal Regions 15p11.2-15q11.2 by Studying Submicroscopic Variations Using Molecular Cytogenetics.

Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position.

Lower respiratory rate during sleep in children with angelman syndrome compared to age-matched controls.

Epilepsy associated with chromosomal disorders.

Molecular aspects of Angelman Syndrome: Defining the new path forward.

Activity-dependent regulation of Cdc42 by Ephexin5 drives synapse growth and stabilization.

Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.

The gain-of-function UBE3AQ588E variant causes Angelman-like neurodevelopmental phenotypes in mice.

Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration.

Forestwalk: A Machine Learning Workflow Brings New Insights Into Posture and Balance in Rodent Beam Walking.

Gelastic spells in Angelman Syndrome, when laughter isn't funny.

Courtship and distress ultrasonic vocalizations are disrupted in a mouse model of Angelman syndrome.

The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey.

Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases.

Parents' Experiences and Views About Use of Wearable Technology for Research and Treatment Monitoring of Children with Neurodevelopmental Disorders.

A high sensitivity assay of UBE3A ubiquitin ligase activity.

Perception of four intellectual and developmental disabilities based on search engine and news portrayal.

BinDel: Detecting Clinically Relevant Fetal Genomic Microdeletions Using Low-Coverage Whole-Genome Sequencing-Based NIPT.

UBE3A controls axon initial segment in the cortical pyramidal neurons.

Wearable sensors in paediatric neurology.

Branched endosomal disruptor (BEND) lipids mediate delivery of mRNA and CRISPR-Cas9 ribonucleoprotein complex for hepatic gene editing and T cell engineering.

Genetics of Prader-Willi and Angelman syndromes: 2024 update.

Proteomic Profiling of Potential E6AP Substrates via Ubiquitin-based Photo-Crosslinking Assisted Affinity Enrichment.

Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.

Clinical and Cytogenetic Impact of Maternal Balanced Double Translocation: A Familial Case of 15q11.2 Microduplication and Microdeletion Syndromes with Genetic Counselling Implications.

Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.

Differences in structure, dynamics, and zinc coordination between isoforms of human ubiquitin ligase UBE3A.

Hyperkaliaemic cardiac arrest in Angelman's syndrome following suxamethonium.

Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome.

[Autosomal dominant intellectual developmental disorder 60 with seizures: a case report].

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability.

Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).

CaMKIIα hub ligands are unable to reverse known phenotypes in Angelman syndrome mice.

Surgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.

The Breastfeeding Experiences of Mother-Infant Dyads and the Effects of an FMR1 Mutation.

Use of Basket Trials to Solve Sleep Problems in Patients with Rare Diseases.

Optimization of the activity and biodegradability of ionizable lipids for mRNA delivery via directed chemical evolution.

Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes.

Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model.

UBE3A: Bridging the gap between neurodevelopment, neural function, and neurodegenerative woes.

Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.

Genome-wide screening reveals essential roles for HOX genes and imprinted genes during caudal neurogenesis of human embryonic stem cells.

Alterations of synaptic plasticity in Angelman syndrome model mice are rescued by 5-HT7R stimulation.

Widespread Gene Editing in the Brain via In Utero Delivery of mRNA Using Acid-Degradable Lipid Nanoparticles.

Parents' perspectives on conversations about prognosis and an assessment of prognostic information available online: A mixed-methods study.

[Epilepsy in Angelman syndrome and the most common electroencephalographic findings].

Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

AAV vector-derived elements integrate into Cas9-generated double-strand breaks and disrupt gene transcription.

Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.

Combinatorial design of siloxane-incorporated lipid nanoparticles augments intracellular processing for tissue-specific mRNA therapeutic delivery.

[Angelman syndrome: current approach and the future of therapies].

Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders.

Epigenetic editing alleviates Angelman syndrome phenotype in mice by unsilencing paternal Ube3a.

Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis.

Association between sleep disturbances and challenging behavior in children and adolescents with Angelman syndrome.

Deciphering the physiopathology of neurodevelopmental disorders using brain organoids.

Evaluation of an In-House Genetic Testing Method for Confirming Prader-Willi and Angelman Syndromes in Sri Lanka.

Successful use of cannabidiol in nonconvulsive status epilepticus in Angelman syndrome.

Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.

Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.

Precision Medicine in Angelman Syndrome.

Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.

Mandibular Distraction in Dual Syndromic Diagnosis.

Epigenetics in rare neurological diseases.

A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing.

Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?

1H-NMR-based metabolomics reveals metabolic alterations in early development of a mouse model of Angelman syndrome.

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons.

A clinical-translational review of sleep problems in neurodevelopmental disabilities.

Fast and facile synthesis of amidine-incorporated degradable lipids for versatile mRNA delivery in vivo.

Ube3a unsilencer for the potential treatment of Angelman syndrome.

Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.

Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants.

Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms.

Interlinked destinies: How ubiquitin-proteasome and autophagy systems underpin neurocognitive outcomes.

Developmental milestones and daily living skills in individuals with Angelman syndrome.

Regional and cellular organization of the autism-associated protein UBE3A/E6AP and its antisense transcript in the brain of the developing rhesus monkey.

Generation of three iPSC lines with inducible systems to be used in Angelman syndrome research.