IRIS
RIVA, ANTONELLA
 Distribuzione geografica
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Continente #
EU - Europa 947
Totale 947
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Nazione #
IT - Italia 947
Totale 947
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Città #
Genoa 341
Vado Ligure 304
Rapallo 206
Genova 89
Bordighera 7
Totale 947
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Nome #
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 63
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 63
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 50
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 45
The pathophysiological role of the gut microbiota in epilepsy: from preclinical to clinical evidence 42
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 42
Diagnostic Approach to Macrocephaly in Children 41
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 39
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 38
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 32
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus 30
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 29
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 29
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 29
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data 26
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 26
Reversing Accumulation of Polyglucosan Bodies by Virally Delivered CRISPR/Cas9 Genome Editing 25
De novo GRIN2A variants associated with epilepsy and autism and literature review 24
Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care - an overview 23
Current and promising therapeutic options for Dravet syndrome 23
An Italian consensus on the management of Lennox-Gastaut syndrome 20
Non-pharmacological treatments for pediatric refractory epilepsies 20
Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications 20
Targeting the MGBA with -biotics in epilepsy: New insights from preclinical and clinical studies 19
Editorial: Novel Mechanisms of Epileptogenesis and Its Inspired Pharmaceutical Treatments for Epilepsy 17
Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization 16
The Pathophysiological Link Between Reelin and Autism: Overview and New Insights 14
A LC-MS/MS METHOD FOR THE QUANTIFICATION OF CENOBAMATE USING VOLUMETRIC ADSORPTIVE MICROSAMPLING (VAMS) 14
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 14
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 13
Video game-induced reflex seizures via a smartphone 12
The microbiota-gut-brain axis and epilepsy from a multidisciplinary perspective: Clinical evidence and technological solutions for improvement of in vitro preclinical models 11
Innovative LC-MS/MS method for therapeutic drug monitoring of fenfluramine and cannabidiol in the plasma of pediatric patients with epilepsy 10
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 10
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 10
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 9
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy 9
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders 6
Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants 6
Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies 4
Totale 973
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Categoria #
all - tutte 6.643
article - articoli 6.470
book - libri 0
conference - conferenze 65
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.178
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202131 0 0 1 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
2024/2025360 33 50 30 56 81 85 25 0 0 0 0 0
Totale 973