IRIS
MANCARDI, MARIA MARGHERITA
 Distribuzione geografica
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Continente #
EU - Europa 4.318
AS - Asia 768
NA - Nord America 352
SA - Sud America 74
AF - Africa 13
OC - Oceania 4
Totale 5.529
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Nazione #
IT - Italia 4.209
US - Stati Uniti d'America 338
SG - Singapore 318
CN - Cina 188
VN - Vietnam 182
BR - Brasile 43
FR - Francia 30
HK - Hong Kong 29
DE - Germania 17
AR - Argentina 16
GB - Regno Unito 10
JP - Giappone 10
FI - Finlandia 8
BD - Bangladesh 7
CA - Canada 6
CO - Colombia 6
ID - Indonesia 6
IN - India 6
IQ - Iraq 6
NL - Olanda 5
SA - Arabia Saudita 5
AT - Austria 4
AU - Australia 4
GR - Grecia 4
MX - Messico 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
JO - Giordania 1
KR - Corea 1
LV - Lettonia 1
MT - Malta 1
NI - Nicaragua 1
OM - Oman 1
PH - Filippine 1
PS - Palestinian Territory 1
PY - Paraguay 1
RO - Romania 1
SN - Senegal 1
TR - Turchia 1
UA - Ucraina 1
Totale 5.529
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Città #
Genoa 2.089
Genova 1.190
Vado Ligure 503
Rapallo 362
Singapore 152
San Jose 120
Ashburn 79
Ho Chi Minh City 63
Hanoi 44
Beijing 31
Lauterbourg 28
Hong Kong 27
New York 18
Santa Clara 14
Bordighera 13
Frankfurt am Main 12
Tianjin 8
Tokyo 8
Haiphong 7
Helsinki 7
Los Angeles 7
Orem 7
Council Bluffs 6
Milan 6
Atlanta 5
Da Nang 5
São Paulo 5
Bogotá 4
Cardiff 4
Montreal 4
Amsterdam 3
Belo Horizonte 3
Bologna 3
Buffalo 3
Bắc Ninh 3
City of London 3
Dublin 3
Hải Dương 3
Quảng Ngãi 3
Thái Bình 3
Vienna 3
Warsaw 3
Baghdad 2
Biên Hòa 2
Brasília 2
Brussels 2
Can Tho 2
Castelfranco Emilia 2
Chiavari 2
Córdoba 2
Hamburg 2
Jakarta 2
Lima 2
Montevideo 2
Nairobi 2
Naples 2
Ninh Bình 2
Nuremberg 2
Padua 2
Palermo 2
Paris 2
Piscataway 2
Prague 2
Registro 2
Stockholm 2
Tashkent 2
Thái Nguyên 2
Zurich 2
Agadir 1
Al Kharj 1
Algiers 1
Ambato 1
Americana 1
Ancol 1
Antakya 1
Aracaju 1
Araruama 1
Aryanah 1
Asunción 1
Athens 1
Bagé 1
Bari 1
Bel Air 1
Bend 1
Brescia 1
Bristol 1
Brooklyn 1
Bucharest 1
Buon Ma Thuot 1
Buraidah 1
Bắc Giang 1
Campos Novos 1
Celaya 1
Chandigarh 1
Chennai 1
Chos Malal 1
Cologne 1
Contagem 1
Copenhagen 1
Corrientes 1
Totale 4.948
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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 202
Anti-Glutamic Acid Decarboxylase Limbic Encephalitis Without Epilepsy Evolving Into Dementia With Cerebellar Ataxia 181
CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations 168
TBC1D24 genotype-phenotype correlation 167
Robotic-assisted minimally invasive total esophagogastric dissociation for children with severe neurodisability 165
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol 161
Epileptic Encephalopathy With Continuous Spike and Wave During Sleep Associated to Periventricular Leukomalacia. 160
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 153
Personality profile and health-related quality of life in adults with previous continuous spike-waves during slow sleep syndrome 153
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene 146
Early classification of childhood focal idiopathic epilepsies: Is it possible at the first seizure? 141
Focal leptomeningeal enhancement and corticopial calcifications underlying a parietal convexity lipoma: a rare association of findings in 2 pediatric epileptic patients. 139
Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation 133
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review 130
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. 128
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants 124
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review 122
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis 120
CASK related disorder: Epilepsy and developmental outcome 119
Acute pediatric encephalitis: etiology, course, and outcome of a 12-year single-center immunocompetent cohort 116
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome 114
Corpus callosum abnormalities: neuroimaging, cytogenetics and clinical characterization of a very large multicenter Italian series 108
On the role of REM sleep microstructure in suppressing interictal spikes in Electrical Status Epilepticus during Sleep 108
Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2 105
Epilepsy Course and Developmental Trajectories in STXBP1-DEE 103
Acute Neurological Presentation in Children With SARS-CoV-2 Infection 102
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies 99
Multimodal approach in the pre-surgical evaluation of focal epilepsy surgery candidates: how far are we from a non-invasive ESI-based "sourcectomy"? 99
Hemispheric surgery for severe epilepsy in early childhood: a case series 89
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 88
Evaluating the central vein sign in paediatric-onset multiple sclerosis: A case series study 87
Mesial Temporal Sclerosis as Late Consequence of Posterior Reversible Encephalopathy Syndrome in Pediatric Hemato-oncologic Patients 86
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing 85
PANDAS e PANS: caratterizzazione clinica e biologica di una coorte di pazienti 85
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes 82
Interstitial 2q24.2q24.3 Microdeletion: Two New Cases with Similar Clinical Features with the Exception of Profound Deafness 76
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder 75
Corpus callosum agenesis and interhemispheric cysts: Epileptic evaluation and long-term outcome in 9 children 74
Lesion phenotyping based on magnetic susceptibility in pediatric multiple sclerosis 72
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum 70
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 70
MYT1L variant inherited by a mosaic father in a case of severe developmental and epileptic encephalopathy 65
Electroencephalographic findings in ATRX syndrome: A new case series and review of literature 64
Cask-Related Disorders: Clinical, Electroencephalographic and Neuroradiological Description of Four Genetically Confirmed Cases 63
Brivaracetam add-on treatment in pediatric patients with severe drug-resistant epilepsy: Italian real-world evidence 62
Innovative LC-MS/MS method for therapeutic drug monitoring of fenfluramine and cannabidiol in the plasma of pediatric patients with epilepsy 58
PRENATAL DIAGNOSIS OF CORPUS CAL­ LOSUM AGENESIS WITH ASSOCIATED INTER­ HEMISPHERIC CYSTS: LONG­TERM OUTCOME IN 23 CHILDREN 57
Impatto della pandemia da COVID-19 sull’andamento dei ricoveri di un reparto di Neuropsichiatria Infantile di terzo livello. 55
Ketamine as advanced second-line treatment in benzodiazepine-refractory convulsive status epilepticus in children 55
Schimke Immuno-osseous Dysplasia: A Peculiar EEG Pattern 47
Pitfalls and unmet needs of transition in epilepsy: Understanding the adult neurologist perspective 47
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation 40
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 39
Subclinical rhythmic EEG discharge of adults (SREDA) in pediatric population: A case series with systematic review of the literature 37
Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study 35
Stereo-EEG in an epilepsy surgery program: Initial experience in a tertiary pediatric hospital in Italy 27
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity 21
VNS treatment in super-refractory status epilepticus: report of two cases and systematic review of literature 20
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 15
Surgical treatment of cavernous malformation-related epilepsy in children: case series, systematic review, and meta-analysis 12
Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain 6
Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework 2
Totale 5.632
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Categoria #
all - tutte 20.809
article - articoli 20.809
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 41.618
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202187 0 0 0 0 0 0 0 0 0 48 25 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
2025/20262.010 324 47 138 164 326 156 306 139 220 190 0 0
Totale 5.632