IRIS
RIVA, ANTONELLA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
EU - Europa 2.062
AS - Asia 37
SA - Sud America 2
NA - Nord America 1
Totale 2.102
Salva come PNG Salva come JPEG
Nazione #
IT - Italia 2.062
CN - Cina 33
SG - Singapore 4
BR - Brasile 2
US - Stati Uniti d'America 1
Totale 2.102
Salva come PNG Salva come JPEG
Città #
Genoa 1.452
Vado Ligure 304
Rapallo 206
Genova 89
Beijing 16
Bordighera 7
Milan 2
Santa Teresa di Riva 2
Ashburn 1
Belo Horizonte 1
Jandira 1
Totale 2.081
Salva come PNG Salva come JPEG
Nome #
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 113
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 101
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 92
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 85
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 82
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 82
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 69
Diagnostic Approach to Macrocephaly in Children 68
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data 66
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 62
The pathophysiological role of the gut microbiota in epilepsy: from preclinical to clinical evidence 62
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus 59
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 57
De novo GRIN2A variants associated with epilepsy and autism and literature review 54
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 53
Reversing Accumulation of Polyglucosan Bodies by Virally Delivered CRISPR/Cas9 Genome Editing 53
Current and promising therapeutic options for Dravet syndrome 53
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 51
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 50
A LC-MS/MS METHOD FOR THE QUANTIFICATION OF CENOBAMATE USING VOLUMETRIC ADSORPTIVE MICROSAMPLING (VAMS) 49
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 49
Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care - an overview 47
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 46
An Italian consensus on the management of Lennox-Gastaut syndrome 44
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 43
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 37
Innovative LC-MS/MS method for therapeutic drug monitoring of fenfluramine and cannabidiol in the plasma of pediatric patients with epilepsy 35
Therapeutic drug monitoring of medical cannabis in pediatrics: The experience of Giannina Gaslini Institute|Il monitoraggio terapeutico della Cannabis medica nei pazienti pediatrici: l’esperienza dell’Istituto Giannina Gaslini 35
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies 34
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants 33
Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications 33
Non-pharmacological treatments for pediatric refractory epilepsies 32
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 31
Editorial: Novel Mechanisms of Epileptogenesis and Its Inspired Pharmaceutical Treatments for Epilepsy 31
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 30
Targeting the MGBA with -biotics in epilepsy: New insights from preclinical and clinical studies 26
The Pathophysiological Link Between Reelin and Autism: Overview and New Insights 23
Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability 23
Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization 23
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 22
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 21
Video game-induced reflex seizures via a smartphone 19
The microbiota-gut-brain axis and epilepsy from a multidisciplinary perspective: Clinical evidence and technological solutions for improvement of in vitro preclinical models 17
An interconnected data infrastructure to support large-scale rare disease research 16
Genome-wide association meta-analyses of drug-resistant epilepsy 14
Medication-resistant epilepsy is associated with a unique gut microbiota signature 8
Gut-immune-brain interactions during neurodevelopment: from a brain-centric to a multisystem perspective 6
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin 1
Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration 1
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 1
Totale 2.142
Salva come PNG Salva come JPEG
Categoria #
all - tutte 10.279
article - articoli 9.916
book - libri 0
conference - conferenze 184
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 20.379
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202130 0 0 0 3 0 0 1 3 5 3 13 2
2021/202265 0 8 0 7 2 4 1 13 4 16 1 9
2022/2023243 11 15 4 15 40 33 0 25 44 1 47 8
2023/2024274 9 26 7 35 22 65 11 10 6 3 46 34
2024/2025921 33 50 30 56 81 85 69 191 79 48 116 83
2025/2026608 222 39 195 152 0 0 0 0 0 0 0 0
Totale 2.142