IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 6.645
EU - Europa 4.900
AS - Asia 1.729
AF - Africa 218
SA - Sud America 43
Continente sconosciuto - Info sul continente non disponibili 7
OC - Oceania 7
Totale 13.549
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 6.364
IT - Italia 2.247
IE - Irlanda 958
UA - Ucraina 860
CN - Cina 855
SG - Singapore 740
CA - Canada 278
RU - Federazione Russa 248
CI - Costa d'Avorio 145
SE - Svezia 117
FR - Francia 100
DE - Germania 92
FI - Finlandia 68
SN - Senegal 54
GB - Regno Unito 48
VN - Vietnam 43
BR - Brasile 38
CH - Svizzera 38
IN - India 34
PL - Polonia 27
NL - Olanda 22
AT - Austria 17
GR - Grecia 17
UZ - Uzbekistan 16
NG - Nigeria 14
CZ - Repubblica Ceca 10
IR - Iran 9
BE - Belgio 7
EU - Europa 7
LB - Libano 7
HK - Hong Kong 6
AU - Australia 4
ES - Italia 4
NO - Norvegia 4
RO - Romania 4
TR - Turchia 4
BG - Bulgaria 3
JP - Giappone 3
NZ - Nuova Zelanda 3
TW - Taiwan 3
CR - Costa Rica 2
EC - Ecuador 2
IQ - Iraq 2
MA - Marocco 2
ME - Montenegro 2
UY - Uruguay 2
AR - Argentina 1
BD - Bangladesh 1
BN - Brunei Darussalam 1
BT - Bhutan 1
EG - Egitto 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
IM - Isola di Man 1
LI - Liechtenstein 1
LT - Lituania 1
LU - Lussemburgo 1
MX - Messico 1
PK - Pakistan 1
PT - Portogallo 1
QA - Qatar 1
TH - Thailandia 1
TN - Tunisia 1
ZA - Sudafrica 1
Totale 13.549
Salva come PNG Salva come JPEG
Città #
Dublin 930
Chandler 887
Santa Clara 882
Jacksonville 849
Singapore 521
Chicago 477
Boardman 419
Catania 343
Nanjing 260
Lawrence 257
Cambridge 255
Andover 252
Toronto 215
Ashburn 171
Des Moines 149
Abidjan 145
San Mateo 131
Wilmington 108
Milan 96
Civitanova Marche 95
Rome 94
Nanchang 93
Saint Petersburg 72
Shenyang 72
Hebei 70
Houston 63
Jiaxing 57
Helsinki 55
Dakar 54
Ottawa 47
Changsha 45
Civitavecchia 45
Palermo 44
Tianjin 44
Beijing 43
Dong Ket 41
Piedimonte Etneo 41
Los Angeles 34
Bremen 32
Messina 27
Naples 25
Augusta 22
Bologna 22
Pedara 22
Falls Church 20
Menlo Park 19
Seattle 18
Norwalk 17
Genoa 16
Jinan 16
Florence 15
Kunming 15
Monza 15
Moscow 15
Abuja 14
Hangzhou 14
Pune 14
Zhengzhou 14
Grafing 13
Lappeenranta 13
Leawood 12
Liberty Lake 12
Napoli 12
Bergamo 11
Fremont 11
Padova 11
Scicli 11
Ann Arbor 10
Sulzano 10
Washington 10
Dallas 9
Den Haag 9
Mumbai 9
Munich 9
Pontedera 8
Treviso 8
Brescia 7
Frankfurt Am Main 7
Monmouth Junction 7
Piacenza 7
Ramacca 7
Warsaw 7
Bari 6
Brussels 6
Changchun 6
Edinburgh 6
Hong Kong 6
Ningbo 6
Novara 6
Shanghai 6
Vienna 6
Aci Catena 5
Acireale 5
Ardabil 5
Brno 5
Cagliari 5
Capannori 5
Enna 5
Fairfield 5
London 5
Totale 9.157
Salva come PNG Salva come JPEG
Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 911
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 321
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 111
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 109
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 101
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 100
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 95
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 92
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 89
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 87
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 86
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 84
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 83
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 81
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 77
EEG features in patients with mucopolysaccharidoses III at different disease stages. 77
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 77
III° Convegno nazionale AIRA 76
GLYCOSYLATION DEFECTS AND EPILEPSY 75
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 74
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 73
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 72
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 72
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 71
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 71
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 70
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 69
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 68
Imaging findings of mucopolysaccharidoses: a pictorial review. 67
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 67
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 65
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 65
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 65
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 65
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 64
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 64
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 64
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 63
Dall’ infanzia all’ eta’ adulta: storia naturale del deficit di decarbossilasi degli aminoacidi aromatici. 63
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 63
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 63
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 62
Plasma chitotriosidase activity in patients with beta-thalassemia 62
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 62
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 62
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 62
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 62
Metal and essential element levels in hair and association with autism severity 62
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 61
Rett syndrome: Photographic evidence of rapid regression 61
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 61
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 61
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 61
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 61
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 61
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 61
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 60
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 60
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 60
Metabolic malformation syndromes. Beyond the Zellweger syndrome 59
Mass spectrometric strategies for the N-glycosylation analisys of serum glycoproteins in patients with congenital disorders of glycosylation (CDG) and galactosemia 59
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 59
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 59
PARK2 microdeletion in a multiplex family with autism spectrum disorder 58
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 58
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 58
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 58
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 58
Prominent neurological involvement in Dercum disease. 57
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I 57
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 57
Aspetti neurocomportamentali nella malattia di Sanfilippo (Mucopolisaccaridosi III). 57
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 57
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 57
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 56
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 56
Galactose supplementation in SLC35A2-CDG: results after 24 weeks of treatment in an Italian patient. 56
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 55
Chitotriosidase in patients with acute ischemic stroke 55
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 55
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 55
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 55
Disturbi del metabolismo delle purine e pirimidine 55
Sviluppo di un programma con tecnologia EyeTracker per la valutazione e l’intervento precoce nei disturbi dello spettro autistico in età prescolare 55
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 55
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 55
CSF N-glycoproteomics for early diagnosis in Alzheimer's disease 55
Hyperkinetic movement disorders in congenital disorders of glycosylation 55
COG6-CDG: Novel variants and novel malformation 55
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 55
Plasma chitotriosidase activity in acute Plasmodium falciparum malaria 54
Temporal lobe epilepsy in gaucher disease type 3: A case report 54
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 54
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 54
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 54
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] 54
A survey on Italian Patients with PMM2-CDG 54
Profilo Glicomico delle Sieroproteine in un paziente con deficit dell'enzima Glucosidasi I (MOGS-CDG) 54
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 54
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 53
Totale 7.602
Salva come PNG Salva come JPEG
Categoria #
all - tutte 47.159
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 47.159
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020619 0 0 0 0 0 13 153 48 147 25 158 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
2024/20252.904 105 894 367 254 1.113 171 0 0 0 0 0 0
Totale 13.993