Publications

Epilepsy in the mTORopathies: opportunities for precision medicine

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Circulating P2X7 Receptor Signaling Components as Diagnostic Biomarkers for Temporal Lobe Epilepsy

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Genomic Analysis of “Microphenotypes” in Epilepsy

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Novel Point-of-Care Diagnostic Method for Neonatal Encephalopathy Using Purine Nucleosides

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A Road Map for Remote Digital Health Technology for Motor Neuron Disease

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NRXN1α +/- is associated with increased excitability in ASD iPSC-derived neurons

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Concordance between PCR-based extraction-free saliva and nasopharyngeal swabs for SARS-CoV-2 testing

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Causes and classification of first unprovoked seizures and newly-diagnosed epilepsy in a defined geographical area- an all-comers analysis

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tRNA-derived fragments: A new class of non-coding RNA with key roles in nervous system function and dysfunction

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tsRNAsearch: A pipeline for the identification of tRNA and ncRNA fragments from small RNA-sequencing data

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Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study

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Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review: Challenges and opportunities

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IgG 1 pan-neurofascin antibodies identify a severe yet treatable neuropathy with a high mortality

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A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies

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Progressive Mitochondrial SOD1 G93A Accumulation Causes Severe Structural, Metabolic and Functional Aberrations through OPA1 Down-Regulation in a Mouse Model of Amyotrophic Lateral Sclerosis

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Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study

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Neuroprotective Effect of Taurine against Cell Death, Glial Changes, and Neuronal Loss in the Cerebellum of Rats Exposed to Chronic-Recurrent Neuroinflammation Induced by LPS

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Challenging the Established Order: Innovating Clinical Trials for Amyotrophic Lateral Sclerosis

Democratizing epilepsy care: Utility and usability of an electronic patient portal

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Targeting Neuroinflammation via Purinergic P2 Receptors for Disease Modification in Drug-Refractory Epilepsy

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Post-ictal psychosis in epilepsy: A clinico-genetic study

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Predictive modelling of hypoxic ischaemic encephalopathy risk following perinatal asphyxia

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Democratizing epilepsy care: Utility and usability of an electronic patient portal

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Zonisamide safety in pregnancy: Data from the UK and Ireland epilepsy and pregnancy register

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Stick or twist: Everolimus for seizures in tuberous sclerosis complex during the COVID-19 pandemic

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tRNA-derived fragments: A new class of non-coding RNA with key roles in nervous system function and dysfunction

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Biosensors Designed for Clinical Applications

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Genome-Wide Association Study Identifies Risk Loci for Cluster Headache

Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications

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ATP and adenosine—Two players in the control of seizures and epilepsy development

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Regulatory Mechanisms of the RNA Modification m 6 A and Significance in Brain Function in Health and Disease

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Computed tomography and emergency department frequency in homeless patients with seizures

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Prediction of caregiver quality of life in amyotrophic lateral sclerosis using explainable machine learning

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Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications

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Precision therapy in the genetic epilepsies of childhood

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Wireless electrochemiluminescence at functionalised gold microparticles using 3D titanium electrode arrays

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Opportunities and challenges for microRNA-targeting therapeutics for epilepsy

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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillation

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Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

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Reversible male infertility with valproate use: A review of the literature

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Neuronal cell-based high-throughput screen for enhancers of mitochondrial function reveals luteolin as a modulator of mitochondria-endoplasmic reticulum coupling

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Mitochondrial arginase-2 is essential for IL-10 metabolic reprogramming of inflammatory macrophages

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AMPK-regulated miRNA-210-3p is activated during ischaemic neuronal injury and modulates PI3K-p70S6K signalling

Ferrocene-Containing DNA Monolayers: Influence of Electrostatics on the Electron Transfer Dynamics

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Limitations of animal epilepsy research models: Can epileptic human tissue provide translational benefit?

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Discrete choice experiment for eliciting preference for health services for patients with ALS and their informal caregivers

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Climate change and epilepsy: Insights from clinical and basic science studies

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Systemic delivery of antagomirs during blood-brain barrier disruption is disease-modifying in experimental epilepsy

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Elevated blood purine levels as a biomarker of seizures and epilepsy

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Identification of clinically relevant biomarkers of epileptogenesis — a strategic roadmap

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Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E study

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Ictal asystole during long-term video-EEG; semiology, localization, and intervention

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The anatomy of electronic patient record ethics: a framework to guide design, development, implementation, and use

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Will RNA circles run rings around microRNA?

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Engineering Calcium Signaling of Astrocytes for Neural-Molecular Computing Logic Gates

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Security in Brain-Computer Interfaces: State-of-the-Art, Opportunities, and Future Challenges

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Coproducing health and well-being in partnership with patients, families, and healthcare providers: A qualitative study exploring the role of an epilepsy patient portal

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Characterization of the Expression of the ATP-Gated P2X7 Receptor Following Status Epilepticus and during Epilepsy Using a P2X7-EGFP Reporter Mouse

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Electrochemical Properties of Screen-Printed Carbon Nano-Onion Electrodes

Examination and diagnosis of electronic patient records and their associated ethics: a scoping literature review

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Analysis of the aetiology of epilepsy in 3,216 adult patients attending a tertiary referral center enabled by an electronic patient record

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Genetic deletion of microRNA-22 blunts the inflammatory transcriptional response to status epilepticus and exacerbates epilepsy in mice

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Genome-wide microRNA profiling of plasma from three different animal models identifies biomarkers of temporal lobe epilepsy

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P2X7 Receptor-Dependent microRNA Expression Profile in the Brain Following Status Epilepticus in Mice

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White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

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Temporally Altered miRNA Expression in a Piglet Model of Hypoxic Ischemic Brain Injury

TRICALS: creating a highway toward a cure

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Polyadenylation of mRNA as a novel regulatory mechanism of gene expression in temporal lobe epilepsy

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Location-specific reflex epilepsy: a novel reflex epilepsy phenotype

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A systems approach delivers a functional microRNA catalog and expanded targets for seizure suppression in temporal lobe epilepsy

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Incidence of first seizures, epilepsy, and seizure mimics in a geographically defined area

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MicroRNAs as regulators of brain function and targets for treatment of epilepsy

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Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C)

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Prevalence of N-Methyl-d-Aspartate Receptor antibody (NMDAR-Ab) encephalitis in patients with first episode psychosis and treatment resistant schizophrenia on clozapine, a population based study

The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

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RCPCH Stroke in Childhood Guidelines: how well are these being followed?

Quantification of tRNA fragments by electrochemical direct detection in small volume biofluid samples

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Effectiveness and tolerability of adjunctive brivaracetam in patients with focal seizures: Second interim analysis of 6-month data from a prospective observational study in Europe

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Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

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Epigenetics explained: a topic “primer” for the epilepsy community by the ILAE Genetics/Epigenetics Task Force

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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

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Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

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Generation of twelve induced pluripotent stem cell lines from two healthy controls and two patients with sporadic amyotrophic lateral sclerosis

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SJS/TEN 2019: From science to translation

Angiogenin and tRNA fragments in Parkinson’s disease and neurodegeneration

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Testing association of rare genetic variants with resistance to three common antiseizure medications

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Could the 2017 ILAE and the four-dimensional epilepsy classifications be merged to a new “Integrated Epilepsy Classification”?

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Prediction of caregiver burden in amyotrophic lateral sclerosis: a machine learning approach using random forests applied to a cohort study

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Derivation of two iPSC lines from a sporadic ASD patient (NUIGi033-A) and a paternal control (NUIGi034-A)

Self-reported antiepilepsy medication adherence and its connection to perception of medication error

Plasma microRNA levels in male and female children with cystic fibrosis

Differential Expression of the Metabotropic P2Y Receptor Family in the Cortex Following Status Epilepticus and Neuroprotection via P2Y 1 Antagonism in Mice

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Altered Biogenesis and MicroRNA Content of Hippocampal Exosomes Following Experimental Status Epilepticus

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The Role of Microglia in Neurodevelopmental Disorders and their Therapeutics

Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

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ATP Measurement in Cerebrospinal Fluid Using a Microplate Reader

Igniting intersectoral collaboration in chronic disease management: a participatory action research study on epilepsy care in Ireland

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Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A)

Epigenetics and noncoding RNA: Recent developments and future therapeutic opportunities

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Imaging tripartite synapses using super-resolution microscopy

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

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Exploring the genetic overlap between psychiatric illness and epilepsy: A review

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Genomic and clinical predictors of lacosamide response in refractory epilepsies

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

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Are patients ready for integrated person-centered care? A qualitative study of people with epilepsy in Ireland

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Elevated Plasma microRNA-206 Levels Predict Cognitive Decline and Progression to Dementia from Mild Cognitive Impairment

Proteins and microRNAs are differentially expressed in tear fluid from patients with Alzheimer’s disease

The Anti-inflammatory Compound Candesartan Cilexetil Improves Neurological Outcomes in a Mouse Model of Neonatal Hypoxia

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GABA Regulation of Burst Firing in Hippocampal Astrocyte Neural Circuit: A Biophysical Model

Vascular regression precedes motor neuron loss in the FUS (1-359) ALS mouse model

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Tackling Epilepsy With High-definition Precision Medicine

Targeting microRNA-134 for seizure control and disease modification in epilepsy

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Development of a genomics module within an epilepsy‐specific electronic health record: Toward genomic medicine in epilepsy care

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Electrical stimulation of the ventral hippocampal commissure delays experimental epilepsy and is associated with altered microRNA expression

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Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

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MicroRNAs as biomarkers and treatment targets in status epilepticus

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Elevation of plasma tRNA fragments precedes seizures in human epilepsy

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Context-Specific Switch from Anti- to Pro-epileptogenic Function of the P2Y1 Receptor in Experimental Epilepsy

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Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures

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A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

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De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

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Profiling of Argonaute-2-loaded microRNAs in a mouse model of frontotemporal dementia with parkinsonism-17

MicroRNA-22 Controls Aberrant Neurogenesis and Changes in Neuronal Morphology After Status Epilepticus

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Regulation of P2X7 receptor expression and function in the brain

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Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

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Discovery and validation of blood microRNAs as molecular biomarkers of epilepsy: Ways to close current knowledge gaps

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

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RNA-sequencing analysis of umbilical cord plasma microRNAs from healthy newborns

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Dual-center, dual-platform microRNA profiling identifies potential plasma biomarkers of adult temporal lobe epilepsy

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Bi-directional genetic modulation of GSK-3β exacerbates hippocampal neuropathology in experimental status epilepticus

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Eslicarbazepine acetate as monotherapy in clinical practice: Outcomes from Euro‐Esli

Spared CA1 pyramidal neuron function and hippocampal performance following antisense knockdown of microRNA‐134

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The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings

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Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer

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Haploinsufficient TNAP Mice Display Decreased Extracellular ATP Levels and Expression of Pannexin-1 Channels

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Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

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Defining external factors that determine neuronal survival, apoptosis and necrosis during excitotoxic injury using a high content screening imaging platform

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Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

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The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

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Psychiatric and psychosocial morbidity 1 year after epilepsy surgery

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