IRIS
MANCARDI, MARIA MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 4.459
NA - Nord America 1.049
AS - Asia 897
Continente sconosciuto - Info sul continente non disponibili 119
SA - Sud America 87
AF - Africa 14
OC - Oceania 4
Totale 6.629
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Nazione #
IT - Italia 4.331
US - Stati Uniti d'America 977
SG - Singapore 326
CN - Cina 213
VN - Vietnam 186
BD - Bangladesh 85
BR - Brasile 49
CA - Canada 41
FR - Francia 33
HK - Hong Kong 33
AR - Argentina 19
DE - Germania 18
GB - Regno Unito 14
ID - Indonesia 10
JP - Giappone 10
NL - Olanda 10
CO - Colombia 8
FI - Finlandia 8
JM - Giamaica 7
MX - Messico 7
IN - India 6
IQ - Iraq 6
PH - Filippine 6
SA - Arabia Saudita 5
AT - Austria 4
AU - Australia 4
CR - Costa Rica 4
ES - Italia 4
GR - Grecia 4
HN - Honduras 4
TN - Tunisia 4
BE - Belgio 3
CH - Svizzera 3
DZ - Algeria 3
EC - Ecuador 3
IE - Irlanda 3
PE - Perù 3
PL - Polonia 3
RU - Federazione Russa 3
SE - Svezia 3
UY - Uruguay 3
BY - Bielorussia 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
TR - Turchia 2
UA - Ucraina 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
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 6.511
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Città #
Genoa 2.096
Genova 1.190
Vado Ligure 503
Rapallo 362
San Jose 231
Singapore 159
Ashburn 151
Ho Chi Minh City 64
Hanoi 47
Beijing 43
Milan 31
New York 31
Hong Kong 30
Lauterbourg 28
Santa Clara 23
Los Angeles 21
Bordighera 13
Buffalo 12
Frankfurt am Main 12
Dallas 11
Miami 11
Rome 11
Toronto 10
Tianjin 9
Boardman 8
Chicago 8
Naples 8
Orem 8
Tokyo 8
Turin 8
Atlanta 7
Haiphong 7
Helsinki 7
Houston 7
Montreal 7
Phoenix 7
Richmond 7
Council Bluffs 6
Kingston 6
Philadelphia 6
Bogotá 5
Brooklyn 5
Da Nang 5
Las Vegas 5
Macomb 5
Queens 5
Raleigh 5
São Paulo 5
Bologna 4
Brasília 4
Cardiff 4
Denver 4
Kansas City 4
Maryville 4
Memphis 4
Morristown 4
Padua 4
Vancouver 4
Warsaw 4
Albuquerque 3
Amsterdam 3
Bari 3
Belo Horizonte 3
Bắc Ninh 3
Cagliari 3
Charlotte 3
City of London 3
Columbus 3
Dublin 3
Hangzhou 3
Herriman 3
Hải Dương 3
Iowa City 3
Jakarta 3
Jersey City 3
Montevideo 3
Nuremberg 3
Piscataway 3
Plymouth 3
Quảng Ngãi 3
San José 3
Tegucigalpa 3
The Bronx 3
Thái Bình 3
Vienna 3
Winnipeg 3
Baghdad 2
Baltimore 2
Birmingham 2
Biên Hòa 2
Bowie 2
Brussels 2
Can Tho 2
Castelfranco Emilia 2
Celaya 2
Cerritos 2
Chanhassen 2
Chiavari 2
Cincinnati 2
Córdoba 2
Totale 5.407
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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 219
Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia 191
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 183
Robotic-assisted minimally invasive total esophagogastric dissociation for children with severe neurodisability 179
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol 178
TBC1D24 genotype-phenotype correlation 177
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. 172
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 169
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 169
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 164
Early classification of childhood focal idiopathic epilepsies: Is it possible at the first seizure? 152
Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients. 148
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 143
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 143
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. 142
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 138
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 136
Acute pediatric encephalitis: etiology, course, and outcome of a 12-year single-center immunocompetent cohort 135
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 135
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 133
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 132
CASK related disorder: Epilepsy and developmental outcome 130
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 125
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series 123
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 114
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 113
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 113
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 111
Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"? 111
Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients 107
Hemispheric surgery for severe epilepsy in early childhood: a case series 103
Evaluating the central vein sign in paediatric-onset multiple sclerosis: A case series study 99
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 98
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 97
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 97
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 96
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti 94
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 88
Lesion phenotyping based on magnetic susceptibility in pediatric multiple sclerosis 85
Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children 84
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 81
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 80
Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence 76
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 74
Subclinical rhythmic EEG discharge of adults (SREDA) in pediatric population: A case series with systematic review of the literature 73
Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework 72
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 71
PRENATAL DIAGNOSIS OF CORPUS CAL­ LOSUM AGENESIS WITH ASSOCIATED INTER­ HEMISPHERIC CYSTS: LONG­TERM OUTCOME IN 23 CHILDREN 70
Innovative LC-MS/MS method for therapeutic drug monitoring of fenfluramine and cannabidiol in the plasma of pediatric patients with epilepsy 66
Impatto della pandemia da COVID-19 sull’andamento dei ricoveri di un reparto di Neuropsichiatria Infantile di terzo livello. 66
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 60
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 56
Pitfalls and unmet needs of transition in epilepsy: Understanding the adult neurologist perspective 55
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 50
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study 48
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain 48
Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy 48
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation 46
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 44
VNS treatment in super-refractory status epilepticus: report of two cases and systematic review of literature 40
Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis 37
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 28
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison 14
Totale 6.629
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Categoria #
all - tutte 25.050
article - articoli 25.050
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 50.100
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022241 0 0 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
2026/2027545 303 149 93 0 0 0 0 0 0 0 0 0
Totale 6.629