IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 9.557
EU - Europa 5.563
AS - Asia 3.814
SA - Sud America 870
AF - Africa 401
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 10
Totale 20.226
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Nazione #
US - Stati Uniti d'America 9.210
IT - Italia 2.702
SG - Singapore 1.802
CN - Cina 1.429
IE - Irlanda 959
UA - Ucraina 874
BR - Brasile 776
CA - Canada 305
CI - Costa d'Avorio 270
RU - Federazione Russa 261
SE - Svezia 133
VN - Vietnam 127
IN - India 125
KR - Corea 116
DE - Germania 103
FR - Francia 102
FI - Finlandia 85
GB - Regno Unito 84
NL - Olanda 80
SN - Senegal 54
CH - Svizzera 38
PL - Polonia 37
AR - Argentina 35
MX - Messico 28
UZ - Uzbekistan 26
BD - Bangladesh 25
HK - Hong Kong 24
ZA - Sudafrica 24
AT - Austria 21
TR - Turchia 21
EC - Ecuador 19
GR - Grecia 17
JP - Giappone 17
ES - Italia 16
IQ - Iraq 15
NG - Nigeria 14
CZ - Repubblica Ceca 13
ID - Indonesia 12
IR - Iran 12
CO - Colombia 11
TN - Tunisia 10
MA - Marocco 8
BE - Belgio 7
EG - Egitto 7
EU - Europa 7
LB - Libano 7
PK - Pakistan 7
AE - Emirati Arabi Uniti 6
AZ - Azerbaigian 6
CL - Cile 6
IL - Israele 6
PY - Paraguay 6
SA - Arabia Saudita 6
UY - Uruguay 6
DZ - Algeria 5
KE - Kenya 5
VE - Venezuela 5
AU - Australia 4
BG - Bulgaria 4
NO - Norvegia 4
NP - Nepal 4
NZ - Nuova Zelanda 4
RO - Romania 4
BO - Bolivia 3
CR - Costa Rica 3
DO - Repubblica Dominicana 3
JO - Giordania 3
LT - Lituania 3
PE - Perù 3
PT - Portogallo 3
TW - Taiwan 3
XK - ???statistics.table.value.countryCode.XK??? 3
AL - Albania 2
AM - Armenia 2
BY - Bielorussia 2
HN - Honduras 2
HR - Croazia 2
JM - Giamaica 2
KZ - Kazakistan 2
ME - Montenegro 2
PW - Palau 2
QA - Qatar 2
TH - Thailandia 2
BB - Barbados 1
BH - Bahrain 1
BN - Brunei Darussalam 1
BT - Bhutan 1
BZ - Belize 1
GA - Gabon 1
GE - Georgia 1
GN - Guinea 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
LI - Liechtenstein 1
LU - Lussemburgo 1
LY - Libia 1
MK - Macedonia 1
MU - Mauritius 1
MY - Malesia 1
Totale 20.222
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Città #
Dallas 2.004
Santa Clara 1.140
Singapore 1.069
Dublin 931
Chandler 887
Jacksonville 849
Chicago 485
Boardman 418
Catania 385
Hefei 319
Abidjan 270
Nanjing 260
Lawrence 257
Cambridge 255
Andover 253
Ashburn 247
Toronto 221
Beijing 164
Des Moines 149
San Mateo 131
Milan 124
Los Angeles 116
Seoul 116
Rome 114
Wilmington 108
Civitanova Marche 94
Nanchang 93
Palermo 80
Shenyang 73
Saint Petersburg 72
Hebei 70
Houston 66
São Paulo 61
Helsinki 57
Jiaxing 57
Kochi 57
Dakar 54
Ottawa 48
Changsha 46
Civitavecchia 45
Tianjin 45
Dong Ket 41
Piedimonte Etneo 41
Council Bluffs 40
Ho Chi Minh City 40
Naples 36
Rio de Janeiro 36
Bremen 32
Messina 32
New York 32
Bologna 29
Brooklyn 29
Columbus 28
Seattle 28
The Dalles 28
San Francisco 26
Augusta 25
Hong Kong 24
Florence 23
Lappeenranta 23
Boston 22
Pedara 22
Falls Church 20
Genoa 20
Menlo Park 19
Monza 18
Venice 18
Curitiba 17
Norwalk 17
Belo Horizonte 16
Brasília 16
Jinan 16
Kunming 16
Moscow 16
Tokyo 16
Mumbai 15
Pune 15
Stockholm 15
Warsaw 15
Zhengzhou 15
Abuja 14
Campinas 14
Hangzhou 14
Hanoi 14
Johannesburg 14
Munich 14
Grafing 13
Padova 13
Phoenix 13
Leawood 12
Liberty Lake 12
Napoli 12
Washington 12
Atlanta 11
Bergamo 11
Fremont 11
Goiânia 11
London 11
Scicli 11
Ann Arbor 10
Totale 13.474
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.060
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 514
MECP2 mutations in Italian patients with Rett syndrome 177
Niemann-Pick type C: No neurologic imvolvement after three years of treatment with miglustat 161
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 133
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 128
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 127
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 125
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 123
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 121
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 120
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 117
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 116
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 115
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 108
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 108
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 106
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 102
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 102
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 102
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 101
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 100
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 99
EEG features in patients with mucopolysaccharidoses III at different disease stages. 99
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 99
III° Convegno nazionale AIRA 98
PARK2 microdeletion in a multiplex family with autism spectrum disorder 97
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 97
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 96
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 96
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 95
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 95
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 95
GLYCOSYLATION DEFECTS AND EPILEPSY 94
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 94
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 93
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 92
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 90
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 90
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 90
Imaging findings of mucopolysaccharidoses: a pictorial review. 89
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 89
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 88
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 88
COG6-CDG: Novel variants and novel malformation 88
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 87
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 86
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 86
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 86
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 86
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 85
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 85
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 85
Metal and essential element levels in hair and association with autism severity 85
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 84
Metabolic malformation syndromes. Beyond the Zellweger syndrome 84
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 84
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 84
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 84
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 83
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 83
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 83
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 83
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 82
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 82
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 82
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 81
A survey on Italian Patients with PMM2-CDG 81
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 81
Rett syndrome: Photographic evidence of rapid regression 80
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 80
Hyperkinetic movement disorders in congenital disorders of glycosylation 80
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 79
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 79
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 78
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] 78
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 78
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 78
Plasma chitotriosidase activity in patients with beta-thalassemia 77
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 77
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 77
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 77
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 77
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 76
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 76
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 76
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 76
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 76
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 75
Lysosomal enzymes activiy in serum and leukocytes of ten patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency) 75
Dall’ infanzia all’ eta’ adulta: storia naturale del deficit di decarbossilasi degli aminoacidi aromatici. 75
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 75
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 75
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 74
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I 74
Prominent neurological involvement in Dercum disease. 74
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 74
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 74
Aromatic L-Aminoacid Decarboxilase deficiency: the first Italian case. 74
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 73
Totale 10.496
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Categoria #
all - tutte 72.938
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 72.938
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.398 0 0 0 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
2025/20263.916 719 655 2.273 269 0 0 0 0 0 0 0 0
Totale 20.684