IRIS
MANCARDI, MARIA MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 4.425
AS - Asia 873
NA - Nord America 776
SA - Sud America 78
AF - Africa 14
OC - Oceania 4
Totale 6.170
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Nazione #
IT - Italia 4.304
US - Stati Uniti d'America 719
SG - Singapore 325
CN - Cina 204
VN - Vietnam 184
BD - Bangladesh 81
BR - Brasile 44
CA - Canada 32
FR - Francia 32
HK - Hong Kong 32
AR - Argentina 18
DE - Germania 17
GB - Regno Unito 11
JP - Giappone 10
NL - Olanda 9
FI - Finlandia 8
CO - Colombia 7
ID - Indonesia 7
IN - India 6
IQ - Iraq 6
MX - Messico 6
SA - Arabia Saudita 5
AT - Austria 4
AU - Australia 4
ES - Italia 4
GR - Grecia 4
HN - Honduras 4
JM - Giamaica 4
TN - Tunisia 4
BE - Belgio 3
DZ - Algeria 3
EC - Ecuador 3
IE - Irlanda 3
PE - Perù 3
PH - Filippine 3
PL - Polonia 3
RU - Federazione Russa 3
SE - Svezia 3
BY - Bielorussia 2
CH - Svizzera 2
CR - Costa Rica 2
CZ - Repubblica Ceca 2
GT - Guatemala 2
KE - Kenya 2
MA - Marocco 2
PK - Pakistan 2
PR - Porto Rico 2
RO - Romania 2
SK - Slovacchia (Repubblica Slovacca) 2
UA - Ucraina 2
UY - Uruguay 2
UZ - Uzbekistan 2
ZA - Sudafrica 2
AG - Antigua e Barbuda 1
AL - Albania 1
BG - Bulgaria 1
BS - Bahamas 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
IL - Israele 1
JO - Giordania 1
KR - Corea 1
LV - Lettonia 1
MT - Malta 1
NI - Nicaragua 1
OM - Oman 1
PS - Palestinian Territory 1
PY - Paraguay 1
SN - Senegal 1
SV - El Salvador 1
TR - Turchia 1
Totale 6.170
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Città #
Genoa 2.093
Genova 1.190
Vado Ligure 503
Rapallo 362
San Jose 194
Singapore 158
Ashburn 123
Ho Chi Minh City 63
Hanoi 46
Beijing 40
Hong Kong 29
New York 29
Lauterbourg 28
Milan 25
Santa Clara 23
Los Angeles 16
Bordighera 13
Frankfurt am Main 12
Buffalo 10
Dallas 10
Rome 9
Tianjin 9
Boardman 8
Orem 8
Tokyo 8
Toronto 8
Haiphong 7
Helsinki 7
Montreal 7
Naples 7
Atlanta 6
Council Bluffs 6
Bogotá 5
Chicago 5
Da Nang 5
Houston 5
São Paulo 5
Bologna 4
Cardiff 4
Kingston 4
Memphis 4
Miami 4
Padua 4
Philadelphia 4
Turin 4
Warsaw 4
Amsterdam 3
Bari 3
Belo Horizonte 3
Brooklyn 3
Bắc Ninh 3
Cagliari 3
City of London 3
Dublin 3
Herriman 3
Hải Dương 3
Iowa City 3
Piscataway 3
Quảng Ngãi 3
Richmond 3
Tegucigalpa 3
The Bronx 3
Thái Bình 3
Vienna 3
Baghdad 2
Birmingham 2
Biên Hòa 2
Bowie 2
Brasília 2
Brussels 2
Can Tho 2
Castelfranco Emilia 2
Charlotte 2
Chiavari 2
Córdoba 2
Decatur 2
Denver 2
Guatemala City 2
Hamburg 2
Hangzhou 2
Jakarta 2
Jersey City 2
Lansdowne 2
Lima 2
London 2
Manouba 2
Mexico City 2
Montevideo 2
Nairobi 2
New Orleans 2
Newark 2
Ninh Bình 2
Nuremberg 2
Palermo 2
Paris 2
Prague 2
Queens 2
Raleigh 2
Registro 2
Roscoe 2
Totale 5.244
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Nome #
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability 213
Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia 188
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 178
Robotic-assisted minimally invasive total esophagogastric dissociation for children with severe neurodisability 175
TBC1D24 genotype-phenotype correlation 174
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol 171
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. 167
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 165
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 161
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 156
Early classification of childhood focal idiopathic epilepsies: Is it possible at the first seizure? 150
Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients. 146
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. 140
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 139
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 137
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 136
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 131
CASK related disorder: Epilepsy and developmental outcome 130
Acute pediatric encephalitis: etiology, course, and outcome of a 12-year single-center immunocompetent cohort 129
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 129
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 128
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 124
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 119
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series 117
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 112
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 109
Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"? 109
Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients 107
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 106
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 102
Hemispheric surgery for severe epilepsy in early childhood: a case series 98
Evaluating the central vein sign in paediatric-onset multiple sclerosis: A case series study 97
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 92
Magnetic Resonance-Guided Laser Interstitial Thermal Therapy (MR-gLiTT) in Pediatric Epilepsy Surgery: State of the Art and Presentation of Giannina Gaslini Children's Hospital (Genoa, Italy) Series 92
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 91
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti 90
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 90
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 85
Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children 79
Lesion phenotyping based on magnetic susceptibility in pediatric multiple sclerosis 77
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 77
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 77
Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence 72
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 69
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 69
PRENATAL DIAGNOSIS OF CORPUS CAL­ LOSUM AGENESIS WITH ASSOCIATED INTER­ HEMISPHERIC CYSTS: LONG­TERM OUTCOME IN 23 CHILDREN 65
Innovative LC-MS/MS method for therapeutic drug monitoring of fenfluramine and cannabidiol in the plasma of pediatric patients with epilepsy 65
Impatto della pandemia da COVID-19 sull’andamento dei ricoveri di un reparto di Neuropsichiatria Infantile di terzo livello. 63
Subclinical rhythmic EEG discharge of adults (SREDA) in pediatric population: A case series with systematic review of the literature 61
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 59
Pitfalls and unmet needs of transition in epilepsy: Understanding the adult neurologist perspective 55
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 52
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 48
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation 45
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study 38
Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy 38
VNS treatment in super-refractory status epilepticus: report of two cases and systematic review of literature 37
Head to head comparison between arterial spin labelling MRI and [18F]FDG-PET in presurgical evaluation of epilepsy in children: the role of voxel-based asymmetry index analysis 36
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain 35
Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis 29
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 25
Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework 21
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison 7
Totale 6.282
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Categoria #
all - tutte 23.376
article - articoli 23.376
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 46.752
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022282 29 12 20 16 16 18 11 53 27 38 5 37
2022/2023437 30 44 7 42 53 56 1 40 64 4 84 12
2023/2024511 28 34 33 62 35 95 42 26 16 30 44 66
2024/20251.426 87 80 35 95 147 132 89 271 87 71 172 160
2025/20262.462 324 47 138 164 326 156 306 139 220 231 194 217
2026/2027198 198 0 0 0 0 0 0 0 0 0 0 0
Totale 6.282