IRIS
DI ROSA, Gabriella
 Distribuzione geografica
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Continente #
EU - Europa 6.715
NA - Nord America 5.695
AS - Asia 3.354
SA - Sud America 1.438
AF - Africa 106
OC - Oceania 9
Continente sconosciuto - Info sul continente non disponibili 4
Totale 17.321
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Nazione #
US - Stati Uniti d'America 5.589
RU - Federazione Russa 1.993
SG - Singapore 1.482
IT - Italia 1.469
BR - Brasile 1.268
IE - Irlanda 875
CN - Cina 828
SE - Svezia 791
HK - Hong Kong 469
DE - Germania 462
UA - Ucraina 255
FI - Finlandia 224
VN - Vietnam 198
FR - Francia 171
GB - Regno Unito 129
PL - Polonia 127
IN - India 104
AR - Argentina 62
CA - Canada 48
NL - Olanda 46
TR - Turchia 45
AT - Austria 43
IQ - Iraq 39
MX - Messico 38
ZA - Sudafrica 34
BE - Belgio 33
BD - Bangladesh 27
EC - Ecuador 24
ID - Indonesia 24
CO - Colombia 22
MA - Marocco 20
VE - Venezuela 20
JP - Giappone 19
UZ - Uzbekistan 19
CH - Svizzera 14
ES - Italia 14
EG - Egitto 13
PK - Pakistan 13
PY - Paraguay 12
LT - Lituania 11
AZ - Azerbaigian 10
CI - Costa d'Avorio 10
PE - Perù 10
AE - Emirati Arabi Uniti 9
UY - Uruguay 9
CL - Cile 8
DZ - Algeria 8
KZ - Kazakistan 8
PA - Panama 8
LV - Lettonia 7
AU - Australia 6
CZ - Repubblica Ceca 6
IL - Israele 6
AL - Albania 5
LB - Libano 5
NP - Nepal 5
PT - Portogallo 5
RS - Serbia 5
TN - Tunisia 5
EE - Estonia 4
GR - Grecia 4
KE - Kenya 4
KR - Corea 4
OM - Oman 4
BA - Bosnia-Erzegovina 3
DO - Repubblica Dominicana 3
EU - Europa 3
GE - Georgia 3
IR - Iran 3
IS - Islanda 3
JM - Giamaica 3
KG - Kirghizistan 3
LA - Repubblica Popolare Democratica del Laos 3
RO - Romania 3
SA - Arabia Saudita 3
SK - Slovacchia (Repubblica Slovacca) 3
SN - Senegal 3
AM - Armenia 2
BG - Bulgaria 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BY - Bielorussia 2
CY - Cipro 2
GH - Ghana 2
GT - Guatemala 2
GY - Guiana 2
HN - Honduras 2
QA - Qatar 2
TT - Trinidad e Tobago 2
AO - Angola 1
BO - Bolivia 1
CG - Congo 1
DK - Danimarca 1
FJ - Figi 1
GA - Gabon 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
JO - Giordania 1
KH - Cambogia 1
Totale 17.303
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Città #
Moscow 1.059
Dublin 873
Dallas 772
Ashburn 704
Singapore 697
Chandler 690
Jacksonville 501
Hong Kong 469
Beijing 391
Nyköping 378
Messina 220
Munich 211
Los Angeles 155
The Dalles 151
Mascali 145
Princeton 145
Cambridge 118
Warsaw 114
Medford 111
Des Moines 106
São Paulo 103
New York 97
Ann Arbor 91
Dearborn 86
Rome 83
Buffalo 77
Boardman 72
Ho Chi Minh City 72
Helsinki 70
Milan 57
Houston 50
Catania 46
Wilmington 46
Hanoi 45
Hyderabad 45
Rio de Janeiro 45
Redondo Beach 41
Tianjin 34
Turku 34
Belo Horizonte 31
Frankfurt am Main 31
Nuremberg 31
Woodbridge 30
Brussels 29
Jinan 29
Vienna 26
Brasília 23
Denver 23
Zhengzhou 23
Johannesburg 22
Shenyang 22
Naples 20
Strasbourg 20
Brooklyn 19
Curitiba 19
Palermo 19
Pune 19
Falls Church 18
London 18
Montreal 18
Boston 17
Jakarta 17
Santa Clara 17
Tokyo 17
Stockholm 16
Baghdad 15
Campinas 15
Seattle 15
Taizhou 15
Tashkent 15
Amsterdam 14
Dong Ket 14
Lappeenranta 14
Bologna 13
Fortaleza 13
Guangzhou 13
Hangzhou 13
Ningbo 13
Orem 13
Phoenix 13
San Mateo 13
Ankara 12
Chicago 12
Hebei 12
Lancaster 12
Rovereto 12
Turin 12
Atlanta 11
Bogotá 11
Caltagirone 11
Comiso 11
Gela 11
Istanbul 11
Poplar 11
Porto Alegre 11
Toronto 11
Washington 11
Abidjan 10
Baku 10
Chennai 10
Totale 10.211
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Nome #
CASE REPORT : “CHARCOT MARIE TOOTH 1 CON COINVOLGIMENTO DI COX10: STESSO GENOTIPO CON PRESENTAZIONE FENOTIPICA DIFFERENTE NELLA STESSA FAMIGLIA” 304
Epilessia e anomalie epilettiformi: Associazione con i disturbi dello spettro autistico 276
De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype 249
FOLLOW-UP NEUROPSICHIATRICO A LUNGO TERMINE IN 10 PAZIENTI CON IPERPROLINEMIA DI TIPO 1 245
Head-to-Head Comparison of Aripiprazole and Risperidone in the Treatment of ADHD Symptoms in Children with Autistic Spectrum Disorder and ADHD: A Pilot, Open-Label, Randomized Controlled Study 206
A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study 196
Il potenziamento cognitivo con l'eye tracker nella sindrome di Rett: Indici neuropsicologici e neurofisiologici. 192
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. 192
A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity. 185
Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications. 184
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography – case study 173
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment 172
8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report 171
A Novel CDKL5 Mutation in a 47,XXY Boy With the Early-Onset Seizure Variant of Rett Syndrome 160
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features 156
Predictive role of early milestones-related psychomotor profiles and long-term neurodevelopmental pitfalls in preterm infants 153
Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients 150
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease 146
Idiopathic Bilateral Relapsing-Remitting Painful Ophthalmoplegia co-occurring with Hashimoto thyroiditis and hyperhomocysteinemia 143
Cognitive Empowerment with New Technologies Improves Neuropsychological and Neurophysiological Parameters in Rett Syndrome 143
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum 142
Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns 137
Efficacy of Intravenous Hydrocortisone Treatment in Refractory Neonatal Seizures: A Report on Three Cases 137
A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome 135
A novel variant of GALC in a familial case of Krabbe disease: Insights from structural bioinformatics and molecular dynamics simulation 134
Aripiprazole-induced Tardive Dyskinesia in 13 Years Old Girl Successfully Treated with Biperiden: A Case Report. 134
Oxidative Stress in Obesity: A Critical Component in Human Diseases. 133
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. 133
A novel mutation of palmitoyl protein thioesterase-1 gene in two Italian sibs with a variant late-infantile neuronal ceroid-lipofuscinosis 133
Epilessia-assenze del bambino: rilievi neuropsicologici. 132
Inflammatory biomarkers and intellectual disability in patients with Down syndrome 132
Type I Hyperprolinemia Associated with Epilepsy and Mental Retardation Results from PRODH Gene Mutations in Three Sicilian Children. 130
Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up 130
Le crisi ipermotorie in età pediatrica: descrizione di due casi. 129
Alpha-synuclein: between synaptic function and dysfunction 128
Validation of a novel classification model of psychogenic nonepileptic seizures by video-EEG analysis and a machine learning approach 127
Stao di male gelastico associato a terapia con Levetiracetam in età pediatrica 126
Primary nocturnal enuresis in children with allergic rhinitis and severe adenotonsillar hypertrophy: a single center pilot study 126
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study 123
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 122
A Machine Learning Approach to the Diagnosis of Autism Spectrum Disorder and Multi-Systemic Developmental Disorder Based on Retrospective Data and ADOS-2 Score 121
Epilepsy and epileptiform EEG: association with Autism Spectrum Disorders. 120
Status gelasticus associated with levetiracetam as add-on treatment 120
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification 120
Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome 120
A Focus on the Cerebellum: From Embryogenesis to an Age-Related Clinical Perspective 119
Case of Alternating Hemiplegia of ChildhoodSuccessfully Treated with Topiramate: Follow-up of 12Months 118
Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities 118
A PROPOSAL FOR CLASSIFICATION OF PSYCHOGENIC NON EPILEPTIC SEIZURES 117
The semiology of psychogenic nonepileptic seizures revisited: Can video alone predict the diagnosis? Preliminary data from a prospective feasibility study. 117
Autoimmunity and hyperhomocysteinemia: a synergic role in epileptogenesis of childhood? 115
Risultati preliminari dell’utilizzo di rufinamide in add-on su un campione di soggetti affetti da Sindrome di Lennox-Gastaut. 115
A de novo truncating mutation in ASXL1 associated with segmental overgrowth 112
Efficacia del levetiracetam in un caso di epilessia mioclonica benigna dell'infanzia 111
Risultati preliminari dell’utilizzo di rufinamide in add-on su un campione di soggetti affetti da Sindrome di Lennox-Gastaut. 111
Iperomocisteinemia e livello cognitivo in bambini con epilessia idiopatica/criptogenetica: dati preliminari di uno studio di popolazione. 111
Le crisi ipermotorie in età pediatrica: descrizione di due casi. 110
Potential benefits of melatonin to control pain in ventilated preterm newborns: An updated review 110
Encefalopatia epilettogena grave in un bambino affetto da sindrome 47,XXY. 109
Autoimmunità e iperomocisteinemia: un ruolo sinergico nell’epilettogenesi dell’età evolutiva? 109
Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD 107
Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications 105
AUTOIMMUNITA' ED IPEROMOCISTEINEMIA: UN RUOLO SINERGICO NELL'EPILETTOGENESI DELL'ETA' EVOLUTIVA? 105
Paediatric arterial ischaemic stroke and cerebral sinovenous thrombosis. First report from the Italian Registry of Pediatric Thrombosis (R. I. T. I., Registro Italiano Trombosi Infantili). 105
Prominent and regressive brain developmental disorders associated with nance-horan syndrome 105
Epilessia e ritardo mentale associati ad Iperprolinemia tipo I. 104
Epileptic Phenotype and Cannabidiol Efficacy in a Williams–Beuren Syndrome Patient With Atypical Deletion: A Case Report 99
Efficacia del levetiracetam in un caso di epilessia mioclonica benigna dell'infanzia 98
PCDH19 mutations in female patients from Southern Italy. 95
Age-Related Neurodevelopmental Features in Children with Joubert Syndrome 94
Epilessia mioclonica progressiva e deficit di alfa-distroglicano: un fenotipo clinico emergente? 94
Oxidative Stress and Respiratory Diseases in Preterm Newborns 93
Modifica dei parametri neuropsicologici e neurofisiologici nella sindrome di rett 92
Stato di male gelastico associato a terapia con Levetiracetam in età pediatrica. 91
Visual evoked potentials in succinate semialdehyde dehydrogenase (SSADH)deficiency 91
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment 91
Effects of a remotely supervised motor rehabilitation program for individuals with Rett syndrome at home 91
Cryptogenetic epilepsy is associated with methylenetetrahydrofolate reductase C677T and A1298C polymorphism in a population-based sample from southern Italy 90
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms 90
Presentazione di famiglie con epilessia. Famiglia con GEFS+ 90
Un'icona somatica di nuova osservazione correlata allo spettro panico-agorafobico. 89
Type I hyperprolinemia: genotype/phenotype correlations. 89
LONG-TERM NEUROPSYCHIATRIC FOLLOW-UP IN HYPERPROLINEMIA TYPE 1 89
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome 88
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders 87
A PAK1 mutational hotspot within the regulatory CRIPaK domain is associated with severe neurodevelopmental disorders in Children 87
Role of COMT V158M polymorphism in the development of dystonia after administration of antipsychotic drugs 87
Perampanel treatment in Early-onset Epileptic Encephalopathy with infantile movement disorders associated with a de novo GRIN1 gene mutation: a 3-year follow-up. 87
Il Levetiracetam nell'epilessia a parossismi rolandici 86
Migraine and Idiopathic Epilepsy of Infancy Comorbidity: Study of a cohort of children 86
Neurotrophins: expression of brain-lung axis development 85
Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis 85
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 84
Alstrom's Syndrome: Neurological Manifestations and Genetics 84
Encefalopatia epilettogena grave in un bambino affetto da sindrome 47,XXY 84
Treatment of multiple sclerosis in children: A brief overview 84
Pediatric Moyamoya Disease and Syndrome in Italy: A Multicenter Cohort 83
Epilessia mioclonica progressiva e deficit di alfa-distroglicano: un fenotipo clinico emergente? 83
Calpain inhibitors: a treatment for Alzheimer's disease 82
Neuroimaging Changes in Menkes Disease, Part 1. 82
Totale 12.363
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Categoria #
all - tutte 62.367
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 62.367
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021580 0 0 0 0 0 85 29 110 88 166 46 56
2021/20221.040 18 119 22 21 32 17 65 40 57 210 130 309
2022/20232.586 213 229 118 172 198 237 29 139 1.104 28 80 39
2023/2024939 62 140 73 92 89 154 46 42 22 83 23 113
2024/20254.061 95 34 121 230 214 177 223 759 925 294 336 653
2025/20265.779 568 659 919 759 811 2.063 0 0 0 0 0 0
Totale 17.655