IRIS
GIACOMINI, THEA
 Distribuzione geografica
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Continente #
EU - Europa 3.106
AS - Asia 54
SA - Sud America 17
NA - Nord America 2
Totale 3.179
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Nazione #
IT - Italia 3.106
CN - Cina 45
BR - Brasile 13
VN - Vietnam 7
EC - Ecuador 2
SG - Singapore 2
CO - Colombia 1
MX - Messico 1
PY - Paraguay 1
US - Stati Uniti d'America 1
Totale 3.179
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Città #
Genoa 1.808
Genova 586
Rapallo 352
Vado Ligure 343
Beijing 21
Bordighera 14
Haiphong 2
São Paulo 2
Tezze sul Brenta 2
Aracaju 1
Ashburn 1
Asunción 1
Belo Horizonte 1
Can Tho 1
Ciudad Nezahualcoyotl 1
Fortaleza 1
Guanambi 1
Guarulhos 1
Hanoi 1
Ho Chi Minh City 1
Hải Dương 1
Milan 1
Minas Novas 1
Montes Claros 1
Ouro Branco 1
Piedecuesta 1
Piracicaba 1
Portoviejo 1
Quito 1
Rio Branco 1
Singapore 1
Águas Lindas de Goiás 1
Totale 3.153
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Nome #
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 153
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 127
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 121
Antiepileptic drugs in Rett Syndrome 115
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 109
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 109
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 107
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients 105
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern 102
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 95
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 93
CASK related disorder: Epilepsy and developmental outcome 93
1p31.1 microdeletion including only NEGR1 gene in two patients. 93
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 92
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region 92
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 90
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 86
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 83
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 82
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 79
High density EEG and arterial spin labelling MRI perfusion in the diagnosis and follow-up of patients with Moyamoya vasculopathies 78
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 74
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 71
Hemispheric surgery for severe epilepsy in early childhood: a case series 69
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review 69
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations 67
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 65
The spectrum of intermediate SCN8A-related epilepsy 60
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 57
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 57
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 53
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 53
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 52
Basal ganglia stroke in pediatric population: Single center experience 50
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 50
Electroclinical Features of Epilepsy in Kleefstra Syndrome 45
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 44
Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy 44
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature 40
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity 39
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 39
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report 25
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study 24
Totale 3.251
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Categoria #
all - tutte 15.110
article - articoli 14.799
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.909
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021109 0 0 0 0 9 1 6 22 11 43 9 8
2021/2022247 12 10 2 19 21 15 5 49 18 44 3 49
2022/2023423 32 53 12 36 46 56 2 35 63 4 73 11
2023/2024462 40 30 15 44 18 96 35 35 17 28 43 61
2024/20251.147 83 65 22 65 93 91 92 229 80 63 145 119
2025/2026589 259 47 125 136 22 0 0 0 0 0 0 0
Totale 3.251