IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 7.250
EU - Europa 5.339
AS - Asia 3.064
SA - Sud America 630
AF - Africa 257
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 7
Totale 16.555
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Nazione #
US - Stati Uniti d'America 6.934
IT - Italia 2.552
SG - Singapore 1.676
CN - Cina 1.032
IE - Irlanda 959
UA - Ucraina 870
BR - Brasile 581
CA - Canada 290
RU - Federazione Russa 257
CI - Costa d'Avorio 147
SE - Svezia 121
IN - India 111
DE - Germania 102
FR - Francia 101
FI - Finlandia 77
GB - Regno Unito 70
NL - Olanda 70
SN - Senegal 54
VN - Vietnam 50
KR - Corea 42
CH - Svizzera 38
PL - Polonia 32
UZ - Uzbekistan 26
AT - Austria 19
BD - Bangladesh 18
GR - Grecia 17
HK - Hong Kong 17
MX - Messico 17
AR - Argentina 16
TR - Turchia 16
ZA - Sudafrica 15
NG - Nigeria 14
CZ - Repubblica Ceca 13
EC - Ecuador 12
IQ - Iraq 12
IR - Iran 10
ES - Italia 9
TN - Tunisia 8
BE - Belgio 7
EU - Europa 7
JP - Giappone 7
LB - Libano 7
MA - Marocco 7
PK - Pakistan 6
UY - Uruguay 6
EG - Egitto 5
IL - Israele 5
AU - Australia 4
AZ - Azerbaigian 4
BG - Bulgaria 4
CO - Colombia 4
KE - Kenya 4
NO - Norvegia 4
RO - Romania 4
AE - Emirati Arabi Uniti 3
CR - Costa Rica 3
DZ - Algeria 3
JO - Giordania 3
NP - Nepal 3
NZ - Nuova Zelanda 3
PY - Paraguay 3
TW - Taiwan 3
VE - Venezuela 3
AL - Albania 2
BO - Bolivia 2
CL - Cile 2
JM - Giamaica 2
ME - Montenegro 2
PT - Portogallo 2
QA - Qatar 2
SA - Arabia Saudita 2
TH - Thailandia 2
AM - Armenia 1
BB - Barbados 1
BN - Brunei Darussalam 1
BT - Bhutan 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
GE - Georgia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LT - Lituania 1
LU - Lussemburgo 1
PE - Perù 1
PS - Palestinian Territory 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 16.555
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Città #
Santa Clara 1.142
Singapore 990
Dublin 931
Chandler 887
Jacksonville 849
Chicago 478
Boardman 419
Catania 366
Nanjing 260
Lawrence 257
Cambridge 255
Andover 252
Toronto 216
Ashburn 194
Des Moines 149
Abidjan 147
San Mateo 131
Milan 118
Rome 111
Wilmington 108
Hefei 107
Civitanova Marche 95
Nanchang 93
Beijing 77
Shenyang 73
Saint Petersburg 72
Hebei 70
Palermo 68
Houston 65
Helsinki 57
Jiaxing 57
Kochi 56
Dakar 54
Ottawa 48
Changsha 46
Civitavecchia 45
Tianjin 45
Los Angeles 44
Seoul 42
Dong Ket 41
Piedimonte Etneo 41
Bremen 32
São Paulo 32
Messina 31
Naples 31
Columbus 28
The Dalles 28
Bologna 27
Seattle 26
Augusta 25
Rio de Janeiro 24
Council Bluffs 22
Pedara 22
Florence 21
Falls Church 20
Genoa 20
Menlo Park 19
New York 19
San Francisco 19
Hong Kong 17
Monza 17
Norwalk 17
Jinan 16
Kunming 16
Moscow 16
Belo Horizonte 15
Lappeenranta 15
Mumbai 15
Zhengzhou 15
Abuja 14
Boston 14
Curitiba 14
Hangzhou 14
Munich 14
Pune 14
Brooklyn 13
Grafing 13
Padova 13
Dallas 12
Leawood 12
Liberty Lake 12
Napoli 12
Washington 12
Bergamo 11
Fremont 11
Scicli 11
Ann Arbor 10
Brasília 10
Campinas 10
Sulzano 10
Tashkent 10
Warsaw 10
Atlanta 9
Den Haag 9
London 9
Bari 8
Goiânia 8
Phoenix 8
Pontedera 8
Shanghai 8
Totale 10.504
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.038
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 424
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 119
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 119
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 113
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 111
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 110
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 107
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 104
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 101
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 101
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 93
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 92
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 92
EEG features in patients with mucopolysaccharidoses III at different disease stages. 91
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 89
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 88
III° Convegno nazionale AIRA 88
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 87
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 87
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 86
GLYCOSYLATION DEFECTS AND EPILEPSY 85
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 85
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 85
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 84
A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions 83
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 82
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 81
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 81
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 80
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 79
PARK2 microdeletion in a multiplex family with autism spectrum disorder 78
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 78
Metal and essential element levels in hair and association with autism severity 78
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 78
Imaging findings of mucopolysaccharidoses: a pictorial review. 77
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 77
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 76
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 76
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 76
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 76
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 76
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 75
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 75
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 74
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 73
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 73
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 73
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 72
COG6-CDG: Novel variants and novel malformation 72
Metabolic malformation syndromes. Beyond the Zellweger syndrome 71
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 71
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 71
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 71
Dall’ infanzia all’ eta’ adulta: storia naturale del deficit di decarbossilasi degli aminoacidi aromatici. 70
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 70
Hyperkinetic movement disorders in congenital disorders of glycosylation 70
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 70
Rett syndrome: Photographic evidence of rapid regression 69
Plasma chitotriosidase activity in patients with beta-thalassemia 69
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 69
The role of pre and post prandial EEG recordings in diagnosing Glut 1-DS [Ruolo dell’EEG pre- e postprandiale nella diagnosi di Glut 1-ds] 69
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 69
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 69
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 68
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 68
A survey on Italian Patients with PMM2-CDG 68
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase 68
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 68
Prominent neurological involvement in Dercum disease. 67
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 67
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 67
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 67
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 67
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 67
Mass spectrometric strategies for the N-glycosylation analisys of serum glycoproteins in patients with congenital disorders of glycosylation (CDG) and galactosemia 66
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 66
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 66
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 66
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 66
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 65
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 65
Disturbi del metabolismo delle purine e pirimidine 65
Temporal lobe epilepsy in gaucher disease type 3: A case report 65
Case Report: Infantile autism in a patient carrying a 275 Kb deletion of 18q12.2 supports the role of RNA-binding protein CELF4 in Autism Spectrum Disorders 65
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 65
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 65
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 65
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 65
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 65
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 64
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 64
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 64
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 64
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 64
Sviluppo di un programma con tecnologia EyeTracker per la valutazione e l’intervento precoce nei disturbi dello spettro autistico in età prescolare 64
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 64
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 63
Plasma chitotriosidase activity in acute Plasmodium falciparum malaria 63
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 63
Totale 8.935
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Categoria #
all - tutte 62.435
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 62.435
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.776 39 152 187 74 423 54 184 43 159 59 272 130
2021/20222.114 230 287 32 88 324 28 289 69 197 33 94 443
2022/20233.308 333 101 46 279 349 534 71 531 771 60 149 84
2023/20241.535 107 172 112 136 73 214 58 93 53 79 257 181
2024/20255.704 105 894 367 254 1.113 527 131 264 472 585 452 540
2025/2026220 220 0 0 0 0 0 0 0 0 0 0 0
Totale 17.013