IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 10.148
EU - Europa 6.191
AS - Asia 5.221
SA - Sud America 996
AF - Africa 430
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 10
Totale 23.007
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Nazione #
US - Stati Uniti d'America 9.760
SG - Singapore 2.908
IT - Italia 2.783
CN - Cina 1.563
IE - Irlanda 959
UA - Ucraina 876
BR - Brasile 870
RU - Federazione Russa 718
CA - Canada 326
CI - Costa d'Avorio 270
VN - Vietnam 230
SE - Svezia 145
IN - India 139
KR - Corea 116
DE - Germania 105
GB - Regno Unito 103
FR - Francia 102
NL - Olanda 100
FI - Finlandia 89
AR - Argentina 54
SN - Senegal 54
PL - Polonia 49
MX - Messico 45
CH - Svizzera 38
ZA - Sudafrica 38
BD - Bangladesh 32
ES - Italia 28
TR - Turchia 28
UZ - Uzbekistan 27
EC - Ecuador 25
HK - Hong Kong 25
JP - Giappone 23
AT - Austria 21
ID - Indonesia 21
IR - Iran 19
IQ - Iraq 18
GR - Grecia 17
CO - Colombia 15
CZ - Repubblica Ceca 14
NG - Nigeria 14
BJ - Benin 10
TN - Tunisia 10
PK - Pakistan 9
KE - Kenya 8
LB - Libano 8
MA - Marocco 8
UY - Uruguay 8
AE - Emirati Arabi Uniti 7
BE - Belgio 7
EG - Egitto 7
EU - Europa 7
IL - Israele 7
LT - Lituania 7
PY - Paraguay 7
AZ - Azerbaigian 6
CL - Cile 6
DZ - Algeria 6
SA - Arabia Saudita 6
VE - Venezuela 5
AU - Australia 4
BG - Bulgaria 4
DO - Repubblica Dominicana 4
MY - Malesia 4
NO - Norvegia 4
NP - Nepal 4
NZ - Nuova Zelanda 4
RO - Romania 4
AL - Albania 3
BO - Bolivia 3
BY - Bielorussia 3
CR - Costa Rica 3
JO - Giordania 3
PE - Perù 3
PT - Portogallo 3
TW - Taiwan 3
XK - ???statistics.table.value.countryCode.XK??? 3
AM - Armenia 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
GT - Guatemala 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
LI - Liechtenstein 1
LU - Lussemburgo 1
LY - Libia 1
Totale 22.998
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Città #
Dallas 2.008
Singapore 1.576
Santa Clara 1.148
Dublin 931
Chandler 887
Jacksonville 849
Chicago 492
Boardman 418
Catania 391
Ashburn 371
Hefei 319
Abidjan 270
Nanjing 260
Lawrence 257
Cambridge 255
Andover 253
Toronto 225
Moscow 224
Los Angeles 212
Beijing 208
Des Moines 149
Milan 134
San Mateo 131
Seoul 116
Rome 115
Wilmington 108
Civitanova Marche 94
Nanchang 93
Ho Chi Minh City 81
Palermo 80
Houston 78
São Paulo 74
Shenyang 73
Buffalo 72
Saint Petersburg 72
Hebei 70
New York 60
Helsinki 57
Jiaxing 57
Kochi 57
Dakar 54
Ottawa 48
Changsha 46
Civitavecchia 45
Tianjin 45
Naples 42
Dong Ket 41
Piedimonte Etneo 41
Council Bluffs 40
Hanoi 38
Rio de Janeiro 38
Messina 34
Bremen 32
Bologna 30
Brooklyn 30
Seattle 30
Boston 29
Columbus 28
The Dalles 28
Lappeenranta 27
San Francisco 27
Stockholm 27
Warsaw 27
Amsterdam 25
Augusta 25
Hong Kong 25
Johannesburg 25
Florence 23
Genoa 22
Montreal 22
Pedara 22
Tokyo 22
Curitiba 20
Falls Church 20
Menlo Park 19
Mumbai 19
Monza 18
Phoenix 18
Venice 18
Atlanta 17
Belo Horizonte 17
Norwalk 17
Brasília 16
Jinan 16
Kunming 16
Mexico City 16
Campinas 15
Pune 15
Redondo Beach 15
Zhengzhou 15
Abuja 14
Chennai 14
Hangzhou 14
London 14
Munich 14
Ankara 13
Grafing 13
Padova 13
Bari 12
Leawood 12
Totale 14.803
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.076
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 563
MECP2 mutations in Italian patients with Rett syndrome 196
Niemann-Pick type C: No neurologic imvolvement after three years of treatment with miglustat 186
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 169
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 152
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 139
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 137
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 135
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 134
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 132
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 129
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 128
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 128
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 125
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 124
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 123
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 121
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 120
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 120
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 120
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 117
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 115
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 115
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 114
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 114
III° Convegno nazionale AIRA 113
PARK2 microdeletion in a multiplex family with autism spectrum disorder 112
GLYCOSYLATION DEFECTS AND EPILEPSY 112
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 112
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 111
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 110
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 110
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 110
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 108
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 107
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 107
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 106
EEG features in patients with mucopolysaccharidoses III at different disease stages. 105
A survey on Italian Patients with PMM2-CDG 105
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 105
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 104
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 104
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 103
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 103
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 103
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 103
COG6-CDG: Novel variants and novel malformation 101
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 99
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 99
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 99
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 99
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 98
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 98
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 97
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 97
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 97
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 96
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 96
Imaging findings of mucopolysaccharidoses: a pictorial review. 96
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 96
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 95
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 94
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 94
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 93
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 92
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 92
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 91
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 91
Alterazioni cerebellari nelle malattie metaboliche. 91
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 91
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 90
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 90
Metal and essential element levels in hair and association with autism severity 90
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 89
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 89
Metabolic malformation syndromes. Beyond the Zellweger syndrome 88
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 87
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 87
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 87
Hyperkinetic movement disorders in congenital disorders of glycosylation 87
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 87
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 86
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 86
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG 85
Rett syndrome: Photographic evidence of rapid regression 85
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 85
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 84
CSF N-glycoproteomics for early diagnosis in Alzheimer's disease 84
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 84
Plasma chitotriosidase activity in patients with beta-thalassemia 83
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 83
CSF N-glycoproteomics using MALDI MS techniques in neurodegenerative diseases 83
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 83
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] 83
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 82
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 82
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 82
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 82
Mitochondrial fatty acid β-oxidation and resveratrol effect in fibroblasts from patients with autism spectrum disorder 82
Totale 11.852
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Categoria #
all - tutte 78.351
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 78.351
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021901 0 0 0 0 0 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
2025/20266.697 719 655 2.273 768 1.808 474 0 0 0 0 0 0
Totale 23.465