IRIS
RIVA, ANTONELLA
 Distribuzione geografica
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Continente #
EU - Europa 638
Totale 638
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Nazione #
IT - Italia 638
Totale 638
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Città #
Genoa 310
Rapallo 206
Genova 89
Vado Ligure 26
Bordighera 7
Totale 638
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Nome #
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 56
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 52
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy 43
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 36
Diagnostic Approach to Macrocephaly in Children 33
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 30
Symptomatic eating epilepsy: two novel pediatric patients and review of literature 30
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 29
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 26
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 22
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 22
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus 22
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data 21
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development 20
The pathophysiological role of the gut microbiota in epilepsy: from preclinical to clinical evidence 19
De novo GRIN2A variants associated with epilepsy and autism and literature review 19
Reversing Accumulation of Polyglucosan Bodies by Virally Delivered CRISPR/Cas9 Genome Editing 19
Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care - an overview 16
Current and promising therapeutic options for Dravet syndrome 16
An Italian consensus on the management of Lennox-Gastaut syndrome 15
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 15
Targeting the MGBA with -biotics in epilepsy: New insights from preclinical and clinical studies 13
Non-pharmacological treatments for pediatric refractory epilepsies 12
Editorial: Novel Mechanisms of Epileptogenesis and Its Inspired Pharmaceutical Treatments for Epilepsy 12
Myoclonic epilepsy of infancy related to YWHAG gene mutation: towards a better phenotypic characterization 10
Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications 10
The Pathophysiological Link Between Reelin and Autism: Overview and New Insights 9
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 9
The microbiota-gut-brain axis and epilepsy from a multidisciplinary perspective: Clinical evidence and technological solutions for improvement of in vitro preclinical models 7
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 7
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 4
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients’ Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus 2
Totale 656
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Categoria #
all - tutte 4.485
article - articoli 4.440
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 8.925
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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
2024/202543 33 10 0 0 0 0 0 0 0 0 0 0
Totale 656