IRIS
AMADORI, ELISABETTA
 Distribuzione geografica
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Continente #
EU - Europa 713
Totale 713
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Nazione #
IT - Italia 713
Totale 713
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Città #
Genoa 279
Genova 211
Rapallo 196
Vado Ligure 18
Bordighera 9
Totale 713
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Nome #
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 79
Emerging treatments for progressive myoclonus epilepsies 58
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 52
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome 51
Abnormal circadian rhythm in patients with GRIN1-related developmental epileptic encephalopathy 42
Exploring treatments for drooling in children with neurological disorders 42
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 40
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 36
UHPLC-MS/MS analysis of cannabidiol and its metabolites in serum of patients with resistant epilepsy treated with CBD formulations 31
Epilepsy features in ARID1B-related Coffin-Siris syndrome 30
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 26
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment 26
Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy 25
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins 23
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
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 18
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 17
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
Cannabidiol, ∆9-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patients 15
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy 10
Electroclinical Features of Epilepsy in Kleefstra Syndrome 10
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 9
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report 6
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 6
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm 5
Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384 4
Temporal-parietal-occipital epilepsy in GEFS+ associated with SCN1A mutation 3
Totale 740
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Categoria #
all - tutte 4.797
article - articoli 4.797
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9.594
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021123 0 0 4 57 3 2 2 14 9 17 8 7
2021/2022102 3 2 2 1 2 7 1 21 4 24 9 26
2022/2023233 18 17 5 21 44 34 0 21 29 1 36 7
2023/2024245 11 18 17 32 15 44 14 18 8 9 27 32
2024/202537 32 5 0 0 0 0 0 0 0 0 0 0
Totale 740