IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 13.265
EU - Europa 8.515
AS - Asia 6.701
SA - Sud America 1.169
AF - Africa 613
Continente sconosciuto - Info sul continente non disponibili 475
OC - Oceania 14
Totale 30.752
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Nazione #
US - Stati Uniti d'America 12.714
SG - Singapore 3.375
IT - Italia 3.360
RU - Federazione Russa 1.888
CN - Cina 1.759
BR - Brasile 974
IE - Irlanda 964
UA - Ucraina 881
VN - Vietnam 536
CA - Canada 417
FR - Francia 400
CI - Costa d'Avorio 270
KR - Corea 236
SE - Svezia 224
BD - Bangladesh 201
IN - India 176
GB - Regno Unito 153
NG - Nigeria 138
NL - Olanda 130
DE - Germania 118
FI - Finlandia 99
AR - Argentina 67
PL - Polonia 64
MX - Messico 62
HK - Hong Kong 54
SN - Senegal 54
ZA - Sudafrica 52
TR - Turchia 47
ES - Italia 46
IQ - Iraq 44
CH - Svizzera 43
EC - Ecuador 35
CO - Colombia 32
UZ - Uzbekistan 32
ID - Indonesia 31
JP - Giappone 30
AT - Austria 26
TN - Tunisia 22
IR - Iran 19
GR - Grecia 18
PK - Pakistan 18
CZ - Repubblica Ceca 16
MA - Marocco 16
CL - Cile 15
KE - Kenya 15
MY - Malesia 15
SA - Arabia Saudita 15
VE - Venezuela 15
JO - Giordania 14
AE - Emirati Arabi Uniti 13
EG - Egitto 13
LT - Lituania 13
DZ - Algeria 11
JM - Giamaica 11
PY - Paraguay 11
BE - Belgio 10
BJ - Benin 10
HN - Honduras 10
IL - Israele 10
LB - Libano 10
AZ - Azerbaigian 9
CR - Costa Rica 9
NP - Nepal 9
PT - Portogallo 9
RO - Romania 9
UY - Uruguay 9
DO - Repubblica Dominicana 8
EU - Europa 7
GT - Guatemala 7
PH - Filippine 7
AL - Albania 6
AU - Australia 6
BG - Bulgaria 6
TH - Thailandia 6
BO - Bolivia 5
BY - Bielorussia 5
HR - Croazia 5
NZ - Nuova Zelanda 5
PE - Perù 5
PR - Porto Rico 5
TT - Trinidad e Tobago 5
TW - Taiwan 5
AO - Angola 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
BB - Barbados 3
GE - Georgia 3
HU - Ungheria 3
AM - Armenia 2
BA - Bosnia-Erzegovina 2
BZ - Belize 2
KW - Kuwait 2
LY - Libia 2
ME - Montenegro 2
MN - Mongolia 2
PW - Palau 2
Totale 30.252
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Città #
Dallas 2.033
Singapore 1.916
Santa Clara 1.217
San Jose 1.145
Dublin 937
Chandler 887
Jacksonville 851
Moscow 758
Ashburn 656
Chicago 504
Catania 462
Boardman 420
Hefei 319
Council Bluffs 278
Abidjan 270
Los Angeles 266
Nanjing 260
Lauterbourg 259
Lawrence 257
Cambridge 255
Andover 253
Beijing 248
Toronto 238
Seoul 236
Ho Chi Minh City 191
Milan 171
Des Moines 150
Rome 149
San Mateo 131
New York 117
Palermo 114
Wilmington 111
Hanoi 98
Civitanova Marche 94
Nanchang 93
Houston 92
São Paulo 92
Buffalo 80
Shenyang 73
Lagos 72
Saint Petersburg 72
Hebei 70
Helsinki 64
Abuja 60
Naples 60
Kochi 58
Jiaxing 57
Dakar 54
Hong Kong 52
Ottawa 52
Phoenix 51
Tianjin 47
Changsha 46
Atlanta 45
Civitavecchia 45
Montreal 42
Rio de Janeiro 42
Bologna 41
Dong Ket 41
Piedimonte Etneo 41
Orem 39
Brooklyn 38
Genoa 38
Messina 38
Boston 37
Seattle 37
Stockholm 37
Warsaw 37
San Francisco 34
Amsterdam 33
Bremen 32
Columbus 31
Johannesburg 31
Lappeenranta 30
The Dalles 29
Augusta 28
Denver 28
Florence 28
Tokyo 28
London 23
Mumbai 23
Pedara 22
Curitiba 21
Chennai 20
Falls Church 20
Haiphong 20
Mexico City 20
Ankara 19
Brasília 19
Menlo Park 19
Belo Horizonte 18
Da Nang 18
Monza 18
Norwalk 18
Poplar 18
Venice 18
Kunming 17
Washington 17
Jinan 16
Baghdad 15
Totale 18.825
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.144
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 735
MECP2 mutations in Italian patients with Rett syndrome 237
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 225
Niemann-Pick type C: No neurologic imvolvement after three years of treatment with miglustat 224
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study 217
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 196
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 195
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 190
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 187
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 184
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 183
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 180
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 172
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 171
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 168
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 162
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 161
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 160
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 160
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 159
Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life 158
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 158
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 156
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG 155
PARK2 microdeletion in a multiplex family with autism spectrum disorder 155
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 154
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 153
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 152
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 150
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 148
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 148
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 145
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 144
Valutazione di fattori prognostici precoci per lo sviluppo del linguaggio in un campione di soggetti con disturbo dello spettro autistico in età prescolare. 142
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 142
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 142
GLYCOSYLATION DEFECTS AND EPILEPSY 141
A survey on Italian Patients with PMM2-CDG 141
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder 140
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 138
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19 137
III° Convegno nazionale AIRA 137
Disturbi del comportamento ed epilessia del lobo temporale in una paziente con malattia di Gaucher tipo 3. 137
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 136
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 136
Advances in purification methods of serum glycoproteins for MALDI-MS analysis of N-glycome in patients with glycosylation disorders 135
COG6-CDG: Novel variants and novel malformation 135
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 135
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 134
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 134
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 133
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 133
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 132
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 131
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 131
Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (AIDA) 130
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 129
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 128
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 128
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 127
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 127
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 126
CSF N-glycoproteomics for early diagnosis in Alzheimer's disease 126
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 125
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 124
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 123
Alterazioni cerebellari nelle malattie metaboliche. 122
Imaging findings of mucopolysaccharidoses: a pictorial review. 121
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 121
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 121
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 120
EEG features in patients with mucopolysaccharidoses III at different disease stages. 119
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 119
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 119
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder 118
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 118
Functional tic-like behaviours during the COVID-19 pandemic: Follow-up over 12 months 116
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations 115
Sensory phenomena in children with Tourette syndrome or autism spectrum disorder 115
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 115
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 115
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 114
Metal and essential element levels in hair and association with autism severity 114
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 112
Novel Textbook Outcomes following emergency laparotomy: Delphi exercise 110
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 109
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 109
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 109
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 108
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 106
Rett syndrome: Photographic evidence of rapid regression 106
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 106
Callosal agenesis and interhemispheric cyst: expandign the phenotype 105
Early Sensory Profile in Autism Spectrum Disorders Predicts Emotional and Behavioral Issues 105
Metabolic malformation syndromes. Beyond the Zellweger syndrome 104
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 104
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene 104
CSF N-glycoproteomics using MALDI MS techniques in neurodegenerative diseases 103
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 102
Totale 15.485
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Categoria #
all - tutte 103.309
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 103.309
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.565 0 0 0 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
2025/202612.284 719 655 2.273 768 1.808 2.171 1.473 331 686 622 430 348
2026/20271.700 412 486 289 513 0 0 0 0 0 0 0 0
Totale 30.752