IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 6.947
EU - Europa 5.148
AS - Asia 2.591
SA - Sud America 411
AF - Africa 242
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 7
Totale 15.354
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Nazione #
US - Stati Uniti d'America 6.657
IT - Italia 2.434
SG - Singapore 1.520
IE - Irlanda 958
CN - Cina 889
UA - Ucraina 866
BR - Brasile 386
CA - Canada 278
RU - Federazione Russa 255
CI - Costa d'Avorio 145
SE - Svezia 117
FR - Francia 100
DE - Germania 94
FI - Finlandia 71
NL - Olanda 57
SN - Senegal 54
GB - Regno Unito 48
VN - Vietnam 43
CH - Svizzera 38
IN - India 38
PL - Polonia 29
UZ - Uzbekistan 22
AT - Austria 19
GR - Grecia 17
NG - Nigeria 14
HK - Hong Kong 13
ZA - Sudafrica 12
CZ - Repubblica Ceca 10
IR - Iran 10
AR - Argentina 9
MX - Messico 8
TR - Turchia 8
BE - Belgio 7
EC - Ecuador 7
EU - Europa 7
LB - Libano 7
BD - Bangladesh 6
ES - Italia 6
IQ - Iraq 6
EG - Egitto 5
MA - Marocco 5
TN - Tunisia 5
AU - Australia 4
AZ - Azerbaigian 4
BG - Bulgaria 4
JP - Giappone 4
NO - Norvegia 4
RO - Romania 4
CR - Costa Rica 3
NZ - Nuova Zelanda 3
PK - Pakistan 3
TW - Taiwan 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
ME - Montenegro 2
PY - Paraguay 2
QA - Qatar 2
TH - Thailandia 2
AL - Albania 1
AM - Armenia 1
BN - Brunei Darussalam 1
BO - Bolivia 1
BT - Bhutan 1
CL - Cile 1
CO - Colombia 1
DZ - Algeria 1
GE - Georgia 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IM - Isola di Man 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
KW - Kuwait 1
KZ - Kazakistan 1
LI - Liechtenstein 1
LT - Lituania 1
LU - Lussemburgo 1
NP - Nepal 1
PT - Portogallo 1
VE - Venezuela 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 15.354
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Città #
Santa Clara 1.133
Dublin 930
Chandler 887
Jacksonville 849
Singapore 835
Chicago 477
Boardman 419
Catania 349
Nanjing 260
Lawrence 257
Cambridge 255
Andover 252
Toronto 215
Ashburn 173
Des Moines 149
Abidjan 145
San Mateo 131
Wilmington 108
Milan 106
Rome 105
Civitanova Marche 95
Nanchang 93
Shenyang 73
Saint Petersburg 72
Hebei 70
Houston 63
Helsinki 57
Jiaxing 57
Palermo 55
Dakar 54
Ottawa 47
Changsha 46
Civitavecchia 45
Tianjin 45
Beijing 43
Dong Ket 41
Piedimonte Etneo 41
Los Angeles 38
Bremen 32
Messina 31
Naples 29
Bologna 27
Augusta 25
Pedara 22
Council Bluffs 21
Seattle 21
Falls Church 20
Menlo Park 19
São Paulo 19
Florence 18
Norwalk 17
Genoa 16
Jinan 16
Kunming 16
Moscow 16
Rio de Janeiro 16
Monza 15
Zhengzhou 15
Abuja 14
Hangzhou 14
Lappeenranta 14
Pune 14
Grafing 13
Hong Kong 13
Padova 13
Leawood 12
Liberty Lake 12
Napoli 12
Bergamo 11
Fremont 11
Scicli 11
Ann Arbor 10
Sulzano 10
Washington 10
Belo Horizonte 9
Dallas 9
Den Haag 9
Mumbai 9
Munich 9
Bari 8
Campinas 8
Curitiba 8
Pontedera 8
Treviso 8
Aci Catena 7
Brescia 7
Frankfurt Am Main 7
Monmouth Junction 7
Piacenza 7
Ramacca 7
Reggio Emilia 7
Shanghai 7
Warsaw 7
Brasília 6
Brussels 6
Changchun 6
Edinburgh 6
Misterbianco 6
Ningbo 6
Novara 6
Totale 9.865
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.010
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 382
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 116
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 113
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 109
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 106
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 105
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 101
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 100
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 98
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 96
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 89
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 89
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 87
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 86
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 86
EEG features in patients with mucopolysaccharidoses III at different disease stages. 85
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 82
III° Convegno nazionale AIRA 81
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 81
GLYCOSYLATION DEFECTS AND EPILEPSY 80
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 80
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 79
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 78
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 77
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 77
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 77
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 77
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 76
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 75
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 75
Imaging findings of mucopolysaccharidoses: a pictorial review. 74
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 74
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 74
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 73
Metal and essential element levels in hair and association with autism severity 72
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 71
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 71
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 71
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 71
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 70
PARK2 microdeletion in a multiplex family with autism spectrum disorder 70
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 70
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 70
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 69
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 69
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 69
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 69
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 69
Dall’ infanzia all’ eta’ adulta: storia naturale del deficit di decarbossilasi degli aminoacidi aromatici. 68
COG6-CDG: Novel variants and novel malformation 68
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 67
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 67
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 66
Rett syndrome: Photographic evidence of rapid regression 66
Plasma chitotriosidase activity in patients with beta-thalassemia 66
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 66
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 66
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 66
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 66
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 66
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 66
Metabolic malformation syndromes. Beyond the Zellweger syndrome 65
Prominent neurological involvement in Dercum disease. 65
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 65
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] 65
A survey on Italian Patients with PMM2-CDG 65
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 65
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 64
Mass spectrometric strategies for the N-glycosylation analisys of serum glycoproteins in patients with congenital disorders of glycosylation (CDG) and galactosemia 64
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 64
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 64
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 64
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 64
Hyperkinetic movement disorders in congenital disorders of glycosylation 64
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 64
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 63
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 63
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 63
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 63
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 63
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 62
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 62
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 62
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 62
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 61
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 61
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 61
Sviluppo di un programma con tecnologia EyeTracker per la valutazione e l’intervento precoce nei disturbi dello spettro autistico in età prescolare 61
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 61
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 61
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 60
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 60
Disturbi del metabolismo delle purine e pirimidine 60
Temporal lobe epilepsy in gaucher disease type 3: A case report 60
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 60
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 60
Eye-tracking evaluation of ocular motility in Pompe disease. 60
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 60
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 59
Totale 8.463
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Categoria #
all - tutte 57.383
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 57.383
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020233 0 0 0 0 0 0 0 0 0 0 158 75
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
2024/20254.720 105 894 367 254 1.113 527 131 264 472 585 8 0
Totale 15.809