IRIS
VARI, MARIA STELLA
 Distribuzione geografica
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Continente #
EU - Europa 2.247
AS - Asia 47
SA - Sud America 11
AF - Africa 1
Totale 2.306
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Nazione #
IT - Italia 2.247
CN - Cina 26
BR - Brasile 11
SG - Singapore 10
VN - Vietnam 8
BD - Bangladesh 2
EG - Egitto 1
ID - Indonesia 1
Totale 2.306
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Città #
Genoa 931
Genova 796
Rapallo 269
Vado Ligure 234
Beijing 15
Bordighera 10
Singapore 6
Haiphong 3
Florence 2
Ho Chi Minh City 2
Quảng Ngãi 2
Santa Teresa di Riva 2
Tezze sul Brenta 2
Al Mansurah 1
Ancol 1
Cabo Frio 1
Guanambi 1
Hanoi 1
Jaguariúna 1
Jundiaí 1
Milan 1
Minas Novas 1
Montes Claros 1
Ourinhos 1
Raul Soares 1
Santa Maria 1
Santo André 1
Uiraúna 1
Totale 2.289
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Nome #
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study 162
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 153
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 153
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 133
Next-generation sequencing for genetic diagnosis of epileptic encephalopathies in infancy 132
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 132
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 131
Management of genetic epilepsies: From empirical treatment to precision medicine 128
Safety of Overnight Switch from Brand-Name to Generic Levetiracetam. 113
Alterations in the alfa(2) gamma ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies 107
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 102
Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy 101
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 89
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 86
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 83
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 71
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus 59
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 57
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 57
Current and promising therapeutic options for Dravet syndrome 56
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 50
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 47
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 45
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 32
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 30
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 30
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy 9
mGlu3 Metabotropic Glutamate Receptors as a Target for the Treatment of Absence Epilepsy: Preclinical and Human Genetics Data 4
Totale 2.352
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Categoria #
all - tutte 9.860
article - articoli 9.510
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 19.370
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021106 0 0 0 0 2 21 6 10 14 23 18 12
2021/2022185 9 5 8 15 15 17 13 39 18 24 5 17
2022/2023303 17 23 7 30 58 45 1 27 55 2 34 4
2023/2024226 5 24 12 30 21 45 13 20 7 10 18 21
2024/2025618 25 40 19 44 59 60 49 126 46 27 64 59
2025/2026369 141 25 82 97 24 0 0 0 0 0 0 0
Totale 2.352