IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 11.880
EU - Europa 8.187
AS - Asia 6.568
SA - Sud America 1.129
AF - Africa 610
OC - Oceania 13
Continente sconosciuto - Info sul continente non disponibili 11
Totale 28.398
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Nazione #
US - Stati Uniti d'America 11.420
SG - Singapore 3.361
IT - Italia 3.122
RU - Federazione Russa 1.888
CN - Cina 1.738
IE - Irlanda 964
BR - Brasile 962
UA - Ucraina 881
VN - Vietnam 535
FR - Francia 395
CA - Canada 371
CI - Costa d'Avorio 270
KR - Corea 236
SE - Svezia 177
IN - India 173
GB - Regno Unito 140
NG - Nigeria 138
BD - Bangladesh 124
NL - Olanda 119
DE - Germania 117
FI - Finlandia 99
AR - Argentina 65
PL - Polonia 63
MX - Messico 59
SN - Senegal 54
ZA - Sudafrica 51
HK - Hong Kong 47
TR - Turchia 47
IQ - Iraq 44
CH - Svizzera 43
ES - Italia 43
UZ - Uzbekistan 32
EC - Ecuador 30
JP - Giappone 30
ID - Indonesia 29
AT - Austria 26
TN - Tunisia 22
CO - Colombia 19
IR - Iran 19
PK - Pakistan 18
GR - Grecia 17
CZ - Repubblica Ceca 16
MA - Marocco 15
KE - Kenya 14
MY - Malesia 14
SA - Arabia Saudita 14
CL - Cile 13
EG - Egitto 13
JO - Giordania 13
LT - Lituania 13
AE - Emirati Arabi Uniti 12
DZ - Algeria 11
BE - Belgio 10
BJ - Benin 10
IL - Israele 10
LB - Libano 10
PY - Paraguay 10
VE - Venezuela 10
AZ - Azerbaigian 9
UY - Uruguay 9
NP - Nepal 8
RO - Romania 8
EU - Europa 7
HN - Honduras 6
PT - Portogallo 6
TH - Thailandia 6
AL - Albania 5
AU - Australia 5
BG - Bulgaria 5
BO - Bolivia 5
BY - Bielorussia 5
DO - Repubblica Dominicana 5
HR - Croazia 5
NZ - Nuova Zelanda 5
PE - Perù 5
PH - Filippine 5
TW - Taiwan 5
AO - Angola 4
CR - Costa Rica 4
GT - Guatemala 4
KZ - Kazakistan 4
LV - Lettonia 4
NO - Norvegia 4
PS - Palestinian Territory 4
SY - Repubblica araba siriana 4
XK - ???statistics.table.value.countryCode.XK??? 4
GE - Georgia 3
HU - Ungheria 3
JM - Giamaica 3
AM - Armenia 2
KW - Kuwait 2
LY - Libia 2
ME - Montenegro 2
MN - Mongolia 2
PR - Porto Rico 2
PW - Palau 2
QA - Qatar 2
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BH - Bahrain 1
Totale 28.374
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Città #
Dallas 2.022
Singapore 1.906
Santa Clara 1.180
Dublin 936
San Jose 930
Chandler 887
Jacksonville 850
Moscow 758
Ashburn 595
Chicago 501
Catania 439
Boardman 419
Hefei 319
Abidjan 270
Nanjing 260
Lauterbourg 259
Lawrence 257
Cambridge 255
Andover 253
Los Angeles 246
Seoul 236
Beijing 230
Toronto 230
Ho Chi Minh City 190
Des Moines 150
Milan 150
Rome 132
San Mateo 131
Wilmington 109
Palermo 104
New York 102
Council Bluffs 99
Hanoi 98
Civitanova Marche 94
Nanchang 93
São Paulo 89
Houston 86
Buffalo 76
Shenyang 73
Lagos 72
Saint Petersburg 72
Hebei 70
Helsinki 64
Abuja 60
Jiaxing 57
Kochi 57
Dakar 54
Ottawa 50
Naples 49
Tianjin 47
Changsha 46
Civitavecchia 45
Hong Kong 45
Rio de Janeiro 42
Dong Ket 41
Piedimonte Etneo 41
Bologna 37
Messina 37
Orem 37
Stockholm 37
Warsaw 37
Montreal 36
Brooklyn 35
Seattle 35
Amsterdam 33
Boston 32
Bremen 32
Johannesburg 31
Columbus 30
Lappeenranta 30
San Francisco 30
The Dalles 29
Atlanta 28
Tokyo 28
Augusta 26
Florence 26
Phoenix 26
Denver 24
Genoa 22
London 22
Mumbai 22
Pedara 22
Curitiba 21
Chennai 20
Falls Church 20
Haiphong 20
Ankara 19
Menlo Park 19
Mexico City 19
Belo Horizonte 18
Da Nang 18
Monza 18
Poplar 18
Venice 18
Kunming 17
Norwalk 17
Brasília 16
Jinan 16
Baghdad 15
Campinas 15
Totale 18.034
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.118
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 667
MECP2 mutations in Italian patients with Rett syndrome 231
Niemann-Pick type C: No neurologic imvolvement after three years of treatment with miglustat 220
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 212
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 190
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 186
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 179
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 178
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 175
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 167
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 165
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 163
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 163
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 158
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 156
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 155
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 155
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 153
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 152
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 150
PARK2 microdeletion in a multiplex family with autism spectrum disorder 145
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 145
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 144
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 144
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG 143
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 142
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 142
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 141
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 140
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 140
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 140
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 140
A survey on Italian Patients with PMM2-CDG 137
GLYCOSYLATION DEFECTS AND EPILEPSY 136
III° Convegno nazionale AIRA 135
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 134
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 133
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 133
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19 132
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 132
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 132
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 132
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 132
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 131
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 130
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 130
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 128
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 127
COG6-CDG: Novel variants and novel malformation 127
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 126
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 126
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 124
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 124
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 123
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 122
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 121
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 120
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 118
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 118
EEG features in patients with mucopolysaccharidoses III at different disease stages. 118
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 118
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 118
CSF N-glycoproteomics for early diagnosis in Alzheimer's disease 118
Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life 117
Alterazioni cerebellari nelle malattie metaboliche. 117
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 115
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 115
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 115
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 114
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder 113
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 112
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 112
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 112
Functional tic-like behaviours during the COVID-19 pandemic: Follow-up over 12 months 112
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 111
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 110
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 110
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 109
Imaging findings of mucopolysaccharidoses: a pictorial review. 108
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 106
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 106
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 105
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 105
Metal and essential element levels in hair and association with autism severity 104
Symptoms compatible with long COVID in an Italian pediatric cohort of Tourette patients with and without SARS‑CoV‑2 infection: a short-term follow-up assessment 102
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 102
Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (AIDA) 101
Metabolic malformation syndromes. Beyond the Zellweger syndrome 101
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 101
null 100
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 100
CSF N-glycoproteomics using MALDI MS techniques in neurodegenerative diseases 99
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] 99
Novel Textbook Outcomes following emergency laparotomy: Delphi exercise 98
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 98
A new inborn error of glycosylation due to DPM2 deficiency 98
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations 97
Hyperkinetic movement disorders in congenital disorders of glycosylation 97
Aberrant Sialylation in a Patient with a HNF1? Variant and Liver Adenomatosis 96
Totale 14.551
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Categoria #
all - tutte 91.311
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 91.311
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021130 0 0 0 0 0 0 0 0 0 0 0 130
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
2025/202612.093 719 655 2.273 768 1.808 2.171 1.473 331 686 622 430 157
Totale 28.861