FRANCESCHETTI, SARA
 Distribuzione geografica
Continente #
EU - Europa 452
Totale 452
Nazione #
IT - Italia 452
Totale 452
Città #
Genova 183
Genoa 102
Vado Ligure 88
Rapallo 79
Totale 452
Nome #
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings 82
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 62
Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls 56
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations 56
Effects in neocortical neurons of mutations of the Nav1.2 Na+ channel causing benign familial neonatal-infantile seizures 44
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease 43
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus 37
Progressive Myoclonus Epilepsies Diagnostic Yield with Next-Generation Sequencing in Previously Unsolved Cases 30
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 27
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 25
Totale 462
Categoria #
all - tutte 3.061
article - articoli 3.061
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 6.122


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021108 0 0 0 50 31 0 0 12 3 12 0 0
2021/202283 18 0 0 1 11 7 0 16 1 13 6 10
2022/202394 12 0 1 10 16 15 0 7 17 3 13 0
2023/202485 0 6 8 12 3 22 6 5 2 5 3 13
2024/202592 16 12 3 25 14 22 0 0 0 0 0 0
Totale 462