IRIS
BARONE, RITA MARIA ELISA
 Distribuzione geografica
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Continente #
NA - Nord America 12.240
EU - Europa 8.362
AS - Asia 6.679
SA - Sud America 1.159
AF - Africa 611
Continente sconosciuto - Info sul continente non disponibili 474
OC - Oceania 13
Totale 29.538
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Nazione #
US - Stati Uniti d'America 11.732
SG - Singapore 3.371
IT - Italia 3.274
RU - Federazione Russa 1.888
CN - Cina 1.753
BR - Brasile 969
IE - Irlanda 964
UA - Ucraina 881
VN - Vietnam 536
FR - Francia 400
CA - Canada 392
CI - Costa d'Avorio 270
KR - Corea 236
BD - Bangladesh 200
SE - Svezia 177
IN - India 175
GB - Regno Unito 140
NG - Nigeria 138
NL - Olanda 128
DE - Germania 117
FI - Finlandia 99
AR - Argentina 67
PL - Polonia 64
MX - Messico 60
SN - Senegal 54
ZA - Sudafrica 51
HK - Hong Kong 50
TR - Turchia 47
ES - Italia 45
IQ - Iraq 44
CH - Svizzera 43
EC - Ecuador 34
UZ - Uzbekistan 32
CO - Colombia 31
JP - Giappone 30
ID - Indonesia 29
AT - Austria 26
TN - Tunisia 22
IR - Iran 19
GR - Grecia 18
PK - Pakistan 18
CZ - Repubblica Ceca 16
MA - Marocco 16
CL - Cile 14
JO - Giordania 14
KE - Kenya 14
MY - Malesia 14
SA - Arabia Saudita 14
EG - Egitto 13
LT - Lituania 13
VE - Venezuela 13
AE - Emirati Arabi Uniti 12
DZ - Algeria 11
PY - Paraguay 11
BE - Belgio 10
BJ - Benin 10
IL - Israele 10
LB - Libano 10
AZ - Azerbaigian 9
HN - Honduras 9
NP - Nepal 9
RO - Romania 9
UY - Uruguay 9
CR - Costa Rica 7
DO - Repubblica Dominicana 7
EU - Europa 7
GT - Guatemala 7
PT - Portogallo 7
AL - Albania 6
BG - Bulgaria 6
JM - Giamaica 6
PH - Filippine 6
TH - Thailandia 6
AU - Australia 5
BO - Bolivia 5
BY - Bielorussia 5
HR - Croazia 5
NZ - Nuova Zelanda 5
PE - Perù 5
TW - Taiwan 5
AO - Angola 4
KZ - Kazakistan 4
LV - Lettonia 4
NO - Norvegia 4
PR - Porto Rico 4
PS - Palestinian Territory 4
SY - Repubblica araba siriana 4
TT - Trinidad e Tobago 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 29.045
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Città #
Dallas 2.028
Singapore 1.914
Santa Clara 1.200
Dublin 937
San Jose 930
Chandler 887
Jacksonville 851
Moscow 758
Ashburn 617
Chicago 503
Catania 440
Boardman 420
Hefei 319
Abidjan 270
Nanjing 260
Lauterbourg 259
Lawrence 257
Cambridge 255
Andover 253
Los Angeles 253
Beijing 243
Seoul 236
Toronto 235
Ho Chi Minh City 191
Milan 164
Des Moines 150
Rome 145
San Mateo 131
Palermo 113
Wilmington 111
New York 106
Council Bluffs 101
Hanoi 98
Civitanova Marche 94
Nanchang 93
Houston 90
São Paulo 90
Buffalo 77
Shenyang 73
Lagos 72
Saint Petersburg 72
Hebei 70
Helsinki 64
Abuja 60
Naples 60
Jiaxing 57
Kochi 57
Dakar 54
Ottawa 50
Hong Kong 48
Tianjin 47
Changsha 46
Civitavecchia 45
Rio de Janeiro 42
Dong Ket 41
Piedimonte Etneo 41
Bologna 40
Montreal 39
Genoa 38
Messina 38
Orem 37
Stockholm 37
Warsaw 37
Brooklyn 36
Seattle 36
Amsterdam 33
Boston 33
Atlanta 32
Bremen 32
San Francisco 32
Columbus 31
Johannesburg 31
Lappeenranta 30
Phoenix 29
The Dalles 29
Florence 28
Tokyo 28
Augusta 27
Denver 26
Mumbai 23
London 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
Norwalk 18
Poplar 18
Venice 18
Kunming 17
Brasília 16
Jinan 16
Baghdad 15
Campinas 15
Totale 18.229
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Nome #
ENCEFALOPATIA EPILETTICA PRECOCE ASSOCIATA A DIFETTI CONGENITI DELLA GLICOSILAZIONE (CDG). 1.138
Disordini congeniti della glicosilazione: la nostra esperienza in Euroglycanet (2005-2010) 711
MECP2 mutations in Italian patients with Rett syndrome 234
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 213
An Eye Tracker based Computer System to Support Oculomotor and Attention Deficit Investigations 193
Clinical correlates in children with autism spectrum disorder and CNVs: Systematic investigation in a clinical setting 188
Acute neurological regression following fever as presenting sign of pontocerebellar hypoplasia type 2D (SEPSECS mutation) 182
Potential associations among alteration of salivary mirnas, saliva microbiome structure, and cognitive impairments in autistic children 180
A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses 179
Electroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients 178
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 170
Correction: The Developmental Autism Early Screening (DAES): a novel test for screening Autism Spectrum Disorder 168
Disentangling restrictive and repetitive behaviors and social impairments in children and adolescents with gilles de la tourette syndrome and autism spectrum disorder 165
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting 164
Online comprehension across different semantic categories in preschool children with autism spectrum disorder 159
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 157
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG) 156
ALG12-CDG: novel glycophenotype insights endorse the molecular defect 155
Early lexical development measurements by the Language Development Survey: A feasibility study in Italian-learning children with autism spectrum disorder 155
Head circumference growth in children with Autism Spectrum Disorder: trend and clinical correlates in the first five years of life 154
Aberrant sialylation in a patient with a HNF1α variant and liver adenomatosis 153
A Novel Exon 1 Mutation in a Patient with Atypical Lafora Progressive Myoclonus Epilepsy Seen as Childhood-onset Cognitive Deficit 152
PARK2 microdeletion in a multiplex family with autism spectrum disorder 149
Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder 148
Assessment of skeletal status in patients with congenital disorder of glycosylation type IA 148
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up 147
miRNAs as New Potential Biomarkers for Autism Spectrum Disorder in serum and saliva 147
Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG 146
Arthrogryposis multiplex congenita and pituitary ectopia. A case report 145
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings 145
Anomalie EEG specifiche ad andamento parossistico in sonno e disturbo del linguaggio: descrizione di un paziente e revisione della letteratura. 141
Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center 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
A survey on Italian Patients with PMM2-CDG 139
GLYCOSYLATION DEFECTS AND EPILEPSY 137
III° Convegno nazionale AIRA 136
Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder 136
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation 135
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study 135
Incidence of autism spectrum disorder in youths affected by gilles de la tourette syndrome based on data from a large single italian clinical cohort 135
A Randomized Controlled Trial Comparing Videoconference vs. Face-to-Face Delivery of Behavior Therapy for Youths With Tourette Syndrome in the Time of COVID-19 133
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 133
Autismo e turbe comportamentali in 5 soggetti con sindrome di Smith Magenis 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
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype) 131
Pediatria dalla A alla Z - Guida Pratica alla diagnosi e al trattamento. Neurologia, disturbi psichiatrici e comportamentali 131
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of n-glycosylation (cdg) 131
Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease. 130
Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia 129
Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis 129
Assessment of cervical myelopathy using transcranial magnetic stimulation in patients with Mucopolysaccharidosis 128
COG6-CDG: Novel variants and novel malformation 128
Neuroactive Amino Acid Profile in Autism Spectrum Disorder: Results from a Clinical Sample 127
Electroclinical features of a patient with GLUT1 deficiency syndrome and adult onset periodic weakness. 125
Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily 125
Autosomal dominant distal motor neuropathy: an italian family not linked to known loci 124
COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases 124
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c.92G>C (p.Arg31Pro) mutation 122
Dihydropyrimidine dehydrogenase deficiency and acute neurological presentation 122
Psychometric Properties of the Italian Version of the Assessment of Identity Development in Adolescence (AIDA) 121
Aploinsufficenza del gene CELF4 in paziente con microdelezione 18q12.2 e Disturbo dello spettro Autistico 121
CSF N-glycoproteomics for early diagnosis in Alzheimer's disease 121
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders. 120
Electroclinical features of Early-Onset Epileptic Encephalopathies in congenital disorders of glycosylation (CDG) 120
Alterazioni cerebellari nelle malattie metaboliche. 119
Profilo cognitivo e comportamentale in un campione di soggetti con autismo ad alto funzionamento/sindrome di Asperger in età scolare. 119
EEG features in patients with mucopolysaccharidoses III at different disease stages. 118
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 118
Diagnosi di deficit della 3-metilcrotonil-CoA carbossilasi materna mediante tandem massa 116
Diagnostic and prognostic value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-related cervical myelopathy 116
Imaging findings of mucopolysaccharidoses: a pictorial review. 115
The Griffiths Autism Early Screening (GAES): A Novel Developmental Test for Screening Autism Spectrum Disorder 114
Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses 114
Mucopolisaccaridosi IIID, caratterisithce cliniche ed evoluzione naturale in tre pazienti 113
Functional tic-like behaviours during the COVID-19 pandemic: Follow-up over 12 months 113
Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response 112
COFS/Pena Shokeir/arthrogryposis: which link between CDGs and malformation syndromes? 111
De novo mutation in the ARHGAP32 gene endorses the implication of GTPase-activating proteins (RhoGAP family) in idiopathic autism spectrum disorder 111
Advances in purification methods of serum glycoproteins for MALDI_MS analysis of N-Glycome in patients with glycosylation disorders. 110
Deficit dell'alfa-glucosidasi acida lisosomiale in un paziente con distroglicanopatia da mutazione del gene GMPPB 110
Sensory phenomena in children with Tourette syndrome or autism spectrum disorder 108
La chitotriosidasi: un marker per la diagnosi ed il follow-up della malattia di Gaucher. 108
Metal and essential element levels in hair and association with autism severity 108
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses 107
Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations 106
Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic 106
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia 106
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 104
Novel Textbook Outcomes following emergency laparotomy: Delphi exercise 103
Metabolic malformation syndromes. Beyond the Zellweger syndrome 103
The natural history of L-aminoacid decarboxylase (AADC) deficiency: report of two never treated ault patients. 103
beta hexosaminidase, alpha mannosidase and beta mannosidase expression in serum from patients with carbohydrate deficient glycoprotein syndrome type I 102
Rett syndrome: Photographic evidence of rapid regression 101
ELECTROPHYSIOLOGICAL EVALUATION OF MUSCLE MEMBRANE EXCITABILITY IN GLUT1 DEFICIENCY SYNDROME: A CASE REPORT 101
null 100
Callosal agenesis and interhemispheric cyst: expandign the phenotype 100
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation 99
CSF N-glycoproteomics using MALDI MS techniques in neurodegenerative diseases 99
Totale 14.938
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Categoria #
all - tutte 96.465
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 96.465
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.884 0 287 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
2025/202612.284 719 655 2.273 768 1.808 2.171 1.473 331 686 622 430 348
2026/2027486 412 74 0 0 0 0 0 0 0 0 0 0
Totale 29.538