IRIS
GIACOMINI, THEA
 Distribuzione geografica
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Continente #
EU - Europa 1.718
Totale 1.718
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Nazione #
IT - Italia 1.718
Totale 1.718
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Città #
Genova 586
Genoa 555
Rapallo 352
Vado Ligure 211
Bordighera 14
Totale 1.718
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Nome #
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 108
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 94
Antiepileptic drugs in Rett Syndrome 87
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 84
Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients 84
Pediatric optic neuritis and anti MOG antibodies: a cohort of Italian patients 76
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant 76
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 72
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG pattern 67
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations 60
High density EEG and arterial spin labelling MRI perfusion in the diagnosis and follow-up of patients with Moyamoya vasculopathies 57
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region 56
CASK related disorder: Epilepsy and developmental outcome 55
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 51
1p31.1 microdeletion including only NEGR1 gene in two patients. 50
The spectrum of intermediate SCN8A-related epilepsy 45
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 44
Photoparoxysmal response in ADCK3 autosomal recessive ataxia: a case report and literature review 43
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project 42
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 41
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 38
Hemispheric surgery for severe epilepsy in early childhood: a case series 36
Clinical and Molecular Characterization of Two Patients with CNTN6 Copy Number Variations 35
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 34
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 31
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 29
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 28
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 28
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 26
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 26
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 25
Correction to: Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy 23
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 22
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 18
Electroclinical Features of Epilepsy in Kleefstra Syndrome 15
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 14
Expanding the phenotype associated with interstitial 6p25.1p24.3 microdeletion: a new case and review of the literature 14
Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy 13
Basal ganglia stroke in pediatric population: Single center experience 12
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities 12
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report 9
Intragenic Microdeletion of ULK4 and Partial Microduplication of BRWD3 in Siblings with Neuropsychiatric Features and Obesity 9
Totale 1.789
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Categoria #
all - tutte 9.936
article - articoli 9.697
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 19.633
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020118 0 0 0 0 10 12 25 10 14 23 20 4
2020/2021231 5 14 9 94 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
2024/2025274 83 65 22 65 39 0 0 0 0 0 0 0
Totale 1.789