IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 9.958
EU - Europa 5.681
AS - Asia 4.457
SA - Sud America 976
AF - Africa 421
OC - Oceania 11
Continente sconosciuto - Info sul continente non disponibili 10
Totale 21.514
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Nazione #
US - Stati Uniti d'America 9.587
IT - Italia 2.753
SG - Singapore 2.179
CN - Cina 1.546
IE - Irlanda 959
UA - Ucraina 876
BR - Brasile 855
CA - Canada 316
CI - Costa d'Avorio 270
RU - Federazione Russa 263
VN - Vietnam 226
SE - Svezia 140
IN - India 136
KR - Corea 116
DE - Germania 103
FR - Francia 102
NL - Olanda 99
GB - Regno Unito 96
FI - Finlandia 88
SN - Senegal 54
AR - Argentina 52
PL - Polonia 46
CH - Svizzera 38
MX - Messico 38
ZA - Sudafrica 32
BD - Bangladesh 30
TR - Turchia 28
UZ - Uzbekistan 27
ES - Italia 25
EC - Ecuador 24
HK - Hong Kong 24
AT - Austria 21
JP - Giappone 21
ID - Indonesia 19
IR - Iran 19
GR - Grecia 17
IQ - Iraq 17
CO - Colombia 15
CZ - Repubblica Ceca 14
NG - Nigeria 14
BJ - Benin 10
TN - Tunisia 10
PK - Pakistan 9
MA - Marocco 8
AE - Emirati Arabi Uniti 7
BE - Belgio 7
EG - Egitto 7
EU - Europa 7
KE - Kenya 7
LB - Libano 7
PY - Paraguay 7
AZ - Azerbaigian 6
CL - Cile 6
IL - Israele 6
LT - Lituania 6
SA - Arabia Saudita 6
UY - Uruguay 6
DZ - Algeria 5
VE - Venezuela 5
AU - Australia 4
BG - Bulgaria 4
DO - Repubblica Dominicana 4
NO - Norvegia 4
NP - Nepal 4
NZ - Nuova Zelanda 4
RO - Romania 4
BO - Bolivia 3
CR - Costa Rica 3
JO - Giordania 3
MY - Malesia 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
GT - Guatemala 1
HU - Ungheria 1
IM - Isola di Man 1
KW - Kuwait 1
LI - Liechtenstein 1
LU - Lussemburgo 1
LY - Libia 1
Totale 21.506
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Città #
Dallas 2.007
Santa Clara 1.146
Singapore 1.077
Dublin 931
Chandler 887
Jacksonville 849
Chicago 490
Boardman 418
Catania 387
Ashburn 326
Hefei 319
Abidjan 270
Nanjing 260
Lawrence 257
Cambridge 255
Andover 253
Toronto 224
Beijing 208
Los Angeles 180
Des Moines 149
Milan 133
San Mateo 131
Seoul 116
Rome 115
Wilmington 108
Civitanova Marche 94
Nanchang 93
Ho Chi Minh City 80
Palermo 80
Houston 77
Shenyang 73
São Paulo 73
Saint Petersburg 72
Hebei 70
Helsinki 57
Jiaxing 57
Kochi 57
Dakar 54
New York 54
Ottawa 48
Buffalo 46
Changsha 46
Civitavecchia 45
Tianjin 45
Naples 42
Dong Ket 41
Piedimonte Etneo 41
Council Bluffs 40
Rio de Janeiro 38
Hanoi 36
Messina 34
Bremen 32
Bologna 29
Brooklyn 29
Columbus 28
Seattle 28
The Dalles 28
Boston 27
San Francisco 27
Lappeenranta 26
Augusta 25
Amsterdam 24
Hong Kong 24
Warsaw 24
Florence 23
Pedara 22
Stockholm 22
Falls Church 20
Genoa 20
Johannesburg 20
Tokyo 20
Curitiba 19
Menlo Park 19
Monza 18
Venice 18
Belo Horizonte 17
Mumbai 17
Norwalk 17
Phoenix 17
Atlanta 16
Brasília 16
Jinan 16
Kunming 16
Moscow 16
Campinas 15
Montreal 15
Pune 15
Redondo Beach 15
Zhengzhou 15
Abuja 14
Chennai 14
Hangzhou 14
Mexico City 14
Munich 14
Ankara 13
Grafing 13
Padova 13
Leawood 12
Liberty Lake 12
London 12
Totale 13.929
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.070
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 541
MECP2 mutations in Italian patients with Rett syndrome 188
Niemann-Pick type C: No neurologic imvolvement after three years of treatment with miglustat 177
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 145
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 139
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 132
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 130
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 129
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 128
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 126
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 124
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 123
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 118
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 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 114
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 114
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 112
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 111
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 111
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 108
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 108
III° Convegno nazionale AIRA 107
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 107
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 107
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 105
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 105
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 104
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 104
GLYCOSYLATION DEFECTS AND EPILEPSY 104
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 103
PARK2 microdeletion in a multiplex family with autism spectrum disorder 102
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 101
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 101
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 101
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 101
EEG features in patients with mucopolysaccharidoses III at different disease stages. 100
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 100
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 99
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 98
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 98
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 97
A survey on Italian Patients with PMM2-CDG 97
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 97
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 96
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 95
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 94
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 92
COG6-CDG: Novel variants and novel malformation 92
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 91
Imaging findings of mucopolysaccharidoses: a pictorial review. 91
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 91
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 91
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 91
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 90
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 89
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 89
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 88
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 88
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 88
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 87
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 87
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 87
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 87
Metal and essential element levels in hair and association with autism severity 87
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 86
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 86
Metabolic malformation syndromes. Beyond the Zellweger syndrome 86
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 86
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 86
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 86
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 85
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 85
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 84
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 83
Alterazioni cerebellari nelle malattie metaboliche. 83
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 83
Rett syndrome: Photographic evidence of rapid regression 82
DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 82
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 82
Hyperkinetic movement disorders in congenital disorders of glycosylation 82
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] 81
Analisi delle funzioni esecutive in relazione alla severità dell’ autismo in un campione di soggetti con Disturbo dello Spettro Autistico ad alto funzionamento (HFA) 81
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 81
Plasma chitotriosidase activity in patients with beta-thalassemia 80
Carbohydrate Deficiency Glycoprotein syndrome Report of two new cases 79
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. 79
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 79
Expanded newborn screening for inherited metabolic diseases in eastern Sicily 79
Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) 78
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease 78
Prevalence and age at diagnosis of Autism Spectrum Disorders in south Italy, 2004–2014 78
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 78
Differences in severity of clinical phenotype reflect diversity of glycosylation statur in two sibs with phosphomannomutase deficiency (CDGIA) due to V129M/R141H mutations 78
MALATTIE NEURODEGENERATIVE E MALATTIE DA ALTERAZIONE DEI NEUROTRASMETTITORI 78
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 78
Mitochondrial fatty acid β-oxidation and resveratrol effect in fibroblasts from patients with autism spectrum disorder 78
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG 77
White matter changes mimicking a leukodystrophy in a patient with Mucopolysaccharidosis: characterization by MRI 77
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 77
Totale 11.133
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Categoria #
all - tutte 75.981
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 75.981
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.324 0 0 0 0 423 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
2025/20265.204 719 655 2.273 768 789 0 0 0 0 0 0 0
Totale 21.972