VARI, MARIA STELLA
 Distribuzione geografica
Continente #
EU - Europa 1.393
Totale 1.393
Nazione #
IT - Italia 1.393
Totale 1.393
Città #
Genova 796
Rapallo 269
Genoa 255
Vado Ligure 63
Bordighera 10
Totale 1.393
Nome #
Effectiveness and tolerability of perampanel in children and adolescents with refractory epilepsies—An Italian observational multicenter study 131
NovelAMPD2mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities 120
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 106
Next-generation sequencing for genetic diagnosis of epileptic encephalopathies in infancy 102
Safety of Overnight Switch from Brand-Name to Generic Levetiracetam. 101
Clinical dissection of early onset absence epilepsy in children and prognostic implications. 101
Management of genetic epilepsies: From empirical treatment to precision medicine 100
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy 96
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 96
Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy 77
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 64
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 53
Musculoskeletal features without ataxia associated with a novel de novo mutation in KCNA1 impairing the voltage sensitivity of Kv1.1 channel 50
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 38
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 31
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 27
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 24
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus 23
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 20
Current and promising therapeutic options for Dravet syndrome 18
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy 16
Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities 11
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 11
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series 11
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 9
Totale 1.436
Categoria #
all - tutte 5.989
article - articoli 5.749
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 11.738


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020293 0 0 9 18 29 36 54 32 36 44 30 5
2020/2021140 11 4 10 9 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
2024/202571 25 40 6 0 0 0 0 0 0 0 0 0
Totale 1.436