IRIS
GUERRINI, RENZO
 Distribuzione geografica
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Continente #
EU - Europa 1.149
Totale 1.149
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Nazione #
IT - Italia 1.149
Totale 1.149
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Città #
Genova 441
Rapallo 354
Genoa 283
Vado Ligure 61
Bordighera 10
Totale 1.149
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Nome #
null 112
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy 95
Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome 72
No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1 63
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy 60
Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy 57
A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability - A pharmacogenetic transcranial magnetic stimulation study 51
Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study 51
Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations 49
The genetics of Dravet syndrome 45
Benign Familial Neonatal-Infantile Seizures: Characterization of a New Sodium Channelopathy 43
Diagnostic implications of genetic copy number variation in epilepsy plus 42
Cortical formation abnormalities on foetal MR imaging: a proposed classification system trialled on 356 cases from Italian and UK centres 38
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy 36
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review 33
Artificial intelligence for classification of temporal lobe epilepsy with ROI-level MRI data: A worldwide ENIGMA-Epilepsy study 32
No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures 30
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study 30
Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 27
Atlas of lesion locations and postsurgical seizure freedom in focal cortical dysplasia: A MELD study 25
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications 23
Event-based modeling in temporal lobe epilepsy demonstrates progressive atrophy from cross-sectional data 22
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies 21
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood 20
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture 20
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study 20
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis 19
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy 14
Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression 12
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies 9
Networks Underlie Temporal Onset of Dysplasia-Related Epilepsy: A MELD Study 8
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum 7
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders 3
Totale 1.189
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Categoria #
all - tutte 7.035
article - articoli 7.035
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 14.070
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202078 0 0 0 4 6 7 11 11 11 12 11 5
2020/2021171 5 2 3 56 17 7 3 28 9 32 1 8
2021/2022185 19 5 1 5 11 14 13 44 8 31 8 26
2022/2023397 21 17 9 51 66 61 17 24 77 6 42 6
2023/2024252 8 35 7 32 29 51 16 20 5 7 10 32
2024/202571 21 39 3 8 0 0 0 0 0 0 0 0
Totale 1.189