IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 7.732
EU - Europa 5.481
AS - Asia 3.592
SA - Sud America 716
AF - Africa 263
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 8
Totale 17.803
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Nazione #
US - Stati Uniti d'America 7.397
IT - Italia 2.644
SG - Singapore 1.789
CN - Cina 1.325
IE - Irlanda 959
UA - Ucraina 872
BR - Brasile 649
CA - Canada 298
RU - Federazione Russa 257
CI - Costa d'Avorio 145
SE - Svezia 131
IN - India 119
KR - Corea 114
DE - Germania 103
FR - Francia 101
GB - Regno Unito 83
FI - Finlandia 81
NL - Olanda 75
VN - Vietnam 67
SN - Senegal 54
CH - Svizzera 38
PL - Polonia 35
MX - Messico 27
UZ - Uzbekistan 26
BD - Bangladesh 24
AT - Austria 21
AR - Argentina 20
ZA - Sudafrica 19
TR - Turchia 18
EC - Ecuador 17
GR - Grecia 17
HK - Hong Kong 17
ES - Italia 14
IQ - Iraq 14
NG - Nigeria 14
CZ - Repubblica Ceca 13
JP - Giappone 13
IR - Iran 11
TN - Tunisia 9
BE - Belgio 7
CO - Colombia 7
EU - Europa 7
LB - Libano 7
MA - Marocco 7
PK - Pakistan 7
AE - Emirati Arabi Uniti 6
IL - Israele 6
UY - Uruguay 6
EG - Egitto 5
KE - Kenya 5
VE - Venezuela 5
AU - Australia 4
AZ - Azerbaigian 4
BG - Bulgaria 4
DZ - Algeria 4
NO - Norvegia 4
NZ - Nuova Zelanda 4
PY - Paraguay 4
RO - Romania 4
SA - Arabia Saudita 4
BO - Bolivia 3
CL - Cile 3
CR - Costa Rica 3
JO - Giordania 3
LT - Lituania 3
NP - Nepal 3
PT - Portogallo 3
TW - Taiwan 3
AL - Albania 2
BY - Bielorussia 2
DO - Repubblica Dominicana 2
HR - Croazia 2
JM - Giamaica 2
ME - Montenegro 2
PE - Perù 2
PW - Palau 2
QA - Qatar 2
TH - Thailandia 2
AM - Armenia 1
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BT - Bhutan 1
GE - Georgia 1
HN - Honduras 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LU - Lussemburgo 1
LY - Libia 1
PF - Polinesia Francese 1
PS - Palestinian Territory 1
TT - Trinidad e Tobago 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 17.803
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Città #
Santa Clara 1.137
Singapore 1.068
Dublin 931
Chandler 887
Jacksonville 849
Chicago 485
Boardman 418
Catania 378
Hefei 287
Nanjing 260
Lawrence 257
Cambridge 255
Andover 253
Dallas 244
Ashburn 229
Toronto 217
Beijing 164
Des Moines 149
Abidjan 145
San Mateo 131
Milan 121
Seoul 114
Rome 113
Los Angeles 112
Wilmington 108
Civitanova Marche 94
Nanchang 93
Palermo 73
Shenyang 73
Saint Petersburg 72
Hebei 70
Houston 66
Helsinki 57
Jiaxing 57
Kochi 56
Dakar 54
Ottawa 48
Changsha 46
Civitavecchia 45
Tianjin 45
São Paulo 43
Dong Ket 41
Piedimonte Etneo 41
Council Bluffs 40
Naples 34
Bremen 32
Messina 32
Bologna 29
Rio de Janeiro 29
Brooklyn 28
Columbus 28
New York 28
Seattle 28
The Dalles 28
Augusta 25
San Francisco 25
Pedara 22
Boston 21
Florence 21
Falls Church 20
Genoa 20
Lappeenranta 19
Menlo Park 19
Venice 18
Hong Kong 17
Monza 17
Norwalk 17
Jinan 16
Kunming 16
Moscow 16
Belo Horizonte 15
Curitiba 15
Mumbai 15
Stockholm 15
Zhengzhou 15
Abuja 14
Hangzhou 14
Munich 14
Pune 14
Grafing 13
Padova 13
Tokyo 13
Warsaw 13
Brasília 12
Leawood 12
Liberty Lake 12
Napoli 12
Washington 12
Atlanta 11
Bergamo 11
Campinas 11
Fremont 11
Johannesburg 11
London 11
Phoenix 11
Scicli 11
Ann Arbor 10
Mascalucia 10
Sulzano 10
Tashkent 10
Totale 11.402
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.050
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 478
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 123
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 122
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 120
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 116
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 115
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 114
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 108
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 107
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 106
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 104
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 95
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 95
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 94
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 92
EEG features in patients with mucopolysaccharidoses III at different disease stages. 92
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 92
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 92
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 91
GLYCOSYLATION DEFECTS AND EPILEPSY 90
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 90
III° Convegno nazionale AIRA 89
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 89
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 89
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 89
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 88
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 87
PARK2 microdeletion in a multiplex family with autism spectrum disorder 85
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 85
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 83
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 83
Imaging findings of mucopolysaccharidoses: a pictorial review. 82
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 82
Metal and essential element levels in hair and association with autism severity 82
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 82
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 81
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 81
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 81
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 81
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 81
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 80
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 79
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 78
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 77
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 77
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 77
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 77
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 77
Metabolic malformation syndromes. Beyond the Zellweger syndrome 76
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 76
COG6-CDG: Novel variants and novel malformation 76
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 75
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 75
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 75
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 74
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 74
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 74
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 74
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 74
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 74
Dall’ infanzia all’ eta’ adulta: storia naturale del deficit di decarbossilasi degli aminoacidi aromatici. 73
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 73
Hyperkinetic movement disorders in congenital disorders of glycosylation 73
Rett syndrome: Photographic evidence of rapid regression 72
Plasma chitotriosidase activity in patients with beta-thalassemia 72
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 72
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 72
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 72
A survey on Italian Patients with PMM2-CDG 72
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 72
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 72
MECP2 mutations in Italian patients with Rett syndrome 71
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 71
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 71
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] 71
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 71
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 70
Prominent neurological involvement in Dercum disease. 70
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 70
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 70
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 70
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19 69
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 69
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 69
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 69
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 69
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 69
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 69
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 69
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 68
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 68
Sviluppo di un programma con tecnologia EyeTracker per la valutazione e l’intervento precoce nei disturbi dello spettro autistico in età prescolare 68
Temporal lobe epilepsy in gaucher disease type 3: A case report 68
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 68
Mitochondrial fatty acid β-oxidation and resveratrol effect in fibroblasts from patients with autism spectrum disorder 68
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 68
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 67
Mass spectrometric strategies for the N-glycosylation analisys of serum glycoproteins in patients with congenital disorders of glycosylation (CDG) and galactosemia 67
Disturbi del metabolismo delle purine e pirimidine 67
Totale 9.434
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Categoria #
all - tutte 67.585
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 67.585
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.585 0 0 187 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
2023/20241.531 107 172 112 136 73 211 58 93 53 79 256 181
2024/20255.683 104 890 365 253 1.108 524 131 264 471 584 451 538
2025/20261.493 719 655 119 0 0 0 0 0 0 0 0 0
Totale 18.261