IRIS
MANCARDI, MARIA MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 4.363
AS - Asia 813
NA - Nord America 584
SA - Sud America 74
AF - Africa 13
OC - Oceania 4
Totale 5.851
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Nazione #
IT - Italia 4.253
US - Stati Uniti d'America 552
SG - Singapore 322
CN - Cina 203
VN - Vietnam 182
BR - Brasile 43
BD - Bangladesh 31
HK - Hong Kong 31
FR - Francia 30
CA - Canada 21
DE - Germania 17
AR - Argentina 16
GB - Regno Unito 10
JP - Giappone 10
FI - Finlandia 8
CO - Colombia 6
ID - Indonesia 6
IN - India 6
IQ - Iraq 6
NL - Olanda 6
MX - Messico 5
SA - Arabia Saudita 5
AT - Austria 4
AU - Australia 4
GR - Grecia 4
DZ - Algeria 3
EC - Ecuador 3
IE - Irlanda 3
PE - Perù 3
PL - Polonia 3
RU - Federazione Russa 3
SE - Svezia 3
TN - Tunisia 3
BE - Belgio 2
BY - Bielorussia 2
CH - Svizzera 2
CZ - Repubblica Ceca 2
ES - Italia 2
KE - Kenya 2
MA - Marocco 2
PK - Pakistan 2
SK - Slovacchia (Repubblica Slovacca) 2
UY - Uruguay 2
UZ - Uzbekistan 2
ZA - Sudafrica 2
AL - Albania 1
BG - Bulgaria 1
BS - Bahamas 1
DK - Danimarca 1
DO - Repubblica Dominicana 1
HN - Honduras 1
IL - Israele 1
JM - Giamaica 1
JO - Giordania 1
KR - Corea 1
LV - Lettonia 1
MT - Malta 1
NI - Nicaragua 1
OM - Oman 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
PY - Paraguay 1
RO - Romania 1
SN - Senegal 1
TR - Turchia 1
UA - Ucraina 1
Totale 5.851
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Città #
Genoa 2.092
Genova 1.190
Vado Ligure 503
Rapallo 362
San Jose 185
Singapore 155
Ashburn 102
Ho Chi Minh City 63
Hanoi 44
Beijing 40
Hong Kong 29
Lauterbourg 28
New York 25
Santa Clara 18
Milan 14
Bordighera 13
Frankfurt am Main 12
Los Angeles 12
Tianjin 9
Boardman 8
Orem 8
Tokyo 8
Haiphong 7
Helsinki 7
Montreal 7
Atlanta 6
Council Bluffs 6
Buffalo 5
Da Nang 5
São Paulo 5
Toronto 5
Bogotá 4
Cardiff 4
Dallas 4
Houston 4
Turin 4
Warsaw 4
Amsterdam 3
Belo Horizonte 3
Bologna 3
Brooklyn 3
Bắc Ninh 3
Chicago 3
City of London 3
Dublin 3
Hải Dương 3
Memphis 3
Miami 3
Naples 3
Piscataway 3
Quảng Ngãi 3
Rome 3
Thái Bình 3
Vienna 3
Baghdad 2
Biên Hòa 2
Brasília 2
Brussels 2
Can Tho 2
Castelfranco Emilia 2
Chiavari 2
Córdoba 2
Hamburg 2
Hangzhou 2
Jakarta 2
Lima 2
London 2
Mexico City 2
Montevideo 2
Nairobi 2
Ninh Bình 2
Nuremberg 2
Padua 2
Palermo 2
Paris 2
Philadelphia 2
Prague 2
Registro 2
Salt Lake City 2
San Francisco 2
Stockholm 2
Tashkent 2
The Bronx 2
Thái Nguyên 2
Zurich 2
Agadir 1
Al Kharj 1
Algiers 1
Alpharetta 1
Ambato 1
Americana 1
Ancol 1
Angola 1
Antakya 1
Aracaju 1
Araruama 1
Aryanah 1
Ascoli Piceno 1
Asunción 1
Athens 1
Totale 5.125
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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 205
Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia 185
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 171
TBC1D24 genotype-phenotype correlation 169
Robotic-assisted minimally invasive total esophagogastric dissociation for children with severe neurodisability 168
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol 167
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. 163
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 158
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 157
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 149
Early classification of childhood focal idiopathic epilepsies: Is it possible at the first seizure? 145
Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients. 140
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 136
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. 135
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 131
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 129
CASK related disorder: Epilepsy and developmental outcome 125
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 125
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 123
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 123
Acute pediatric encephalitis: etiology, course, and outcome of a 12-year single-center immunocompetent cohort 121
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 121
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 116
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series 115
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 107
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 105
Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"? 104
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 103
Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients 100
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 97
Hemispheric surgery for severe epilepsy in early childhood: a case series 93
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 90
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 90
Evaluating the central vein sign in paediatric-onset multiple sclerosis: A case series study 89
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti 87
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 87
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 82
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 81
Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children 77
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 75
Lesion phenotyping based on magnetic susceptibility in pediatric multiple sclerosis 74
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 71
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 68
Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence 68
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 65
Innovative LC-MS/MS method for therapeutic drug monitoring of fenfluramine and cannabidiol in the plasma of pediatric patients with epilepsy 62
PRENATAL DIAGNOSIS OF CORPUS CAL­ LOSUM AGENESIS WITH ASSOCIATED INTER­ HEMISPHERIC CYSTS: LONG­TERM OUTCOME IN 23 CHILDREN 61
Impatto della pandemia da COVID-19 sull’andamento dei ricoveri di un reparto di Neuropsichiatria Infantile di terzo livello. 60
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 57
Pitfalls and unmet needs of transition in epilepsy: Understanding the adult neurologist perspective 52
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 50
Subclinical rhythmic EEG discharge of adults (SREDA) in pediatric population: A case series with systematic review of the literature 46
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 43
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation 43
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study 36
Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy 32
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 31
VNS treatment in super-refractory status epilepticus: report of two cases and systematic review of literature 29
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 25
Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis 21
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain 15
Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework 9
Totale 5.962
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Categoria #
all - tutte 22.045
article - articoli 22.045
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 44.090
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202114 0 0 0 0 0 0 0 0 0 0 0 14
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
2025/20262.340 324 47 138 164 326 156 306 139 220 231 194 95
Totale 5.962