IRIS
FRANCESCHETTI, SARA
 Distribuzione geografica
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Continente #
EU - Europa 341
Totale 341
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Nazione #
IT - Italia 341
Totale 341
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Città #
Genova 183
Genoa 79
Rapallo 79
Totale 341
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Nome #
Mild Lafora disease: Clinical, neurophysiologic, and genetic findings 71
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations 50
Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls 49
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations 45
Effects in neocortical neurons of mutations of the Nav1.2 Na+ channel causing benign familial neonatal-infantile seizures 35
Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease 34
Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus 27
Progressive Myoclonus Epilepsies Diagnostic Yield with Next-Generation Sequencing in Previously Unsolved Cases 21
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 10
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 9
Totale 351
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Categoria #
all - tutte 2.105
article - articoli 2.105
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 4.210
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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
2023/202466 0 6 8 12 3 22 6 5 2 2 0 0
Totale 351