IRIS
FAZZI, ELISA MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 2.895
EU - Europa 2.093
AS - Asia 1.352
SA - Sud America 20
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 5
AF - Africa 4
Totale 6.375
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Nazione #
US - Stati Uniti d'America 2.874
CN - Cina 1.160
IE - Irlanda 702
UA - Ucraina 311
FI - Finlandia 281
IT - Italia 226
DE - Germania 213
SG - Singapore 150
GB - Regno Unito 120
SE - Svezia 101
FR - Francia 48
BE - Belgio 46
JP - Giappone 20
CA - Canada 19
NL - Olanda 17
BR - Brasile 16
CZ - Repubblica Ceca 10
IN - India 9
EU - Europa 5
CH - Svizzera 4
LT - Lituania 4
RU - Federazione Russa 4
AU - Australia 3
HK - Hong Kong 3
NZ - Nuova Zelanda 3
CL - Cile 2
MU - Mauritius 2
PE - Perù 2
AE - Emirati Arabi Uniti 1
AM - Armenia 1
CR - Costa Rica 1
DK - Danimarca 1
ES - Italia 1
GR - Grecia 1
IL - Israele 1
IR - Iran 1
KZ - Kazakistan 1
MD - Moldavia 1
NP - Nepal 1
PA - Panama 1
PH - Filippine 1
PK - Pakistan 1
PL - Polonia 1
RO - Romania 1
TN - Tunisia 1
TR - Turchia 1
UZ - Uzbekistan 1
ZA - Sudafrica 1
Totale 6.375
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Città #
Dublin 700
Chandler 696
Jacksonville 348
Nanjing 308
Boardman 196
Ashburn 183
Ann Arbor 163
Beijing 134
Nanchang 125
Helsinki 117
Princeton 110
Lawrence 108
Medford 105
Singapore 102
Wilmington 100
Shenyang 98
Hebei 80
Changsha 76
Jiaxing 74
New York 69
Shanghai 63
Tianjin 57
Brussels 45
Milan 42
Woodbridge 42
Hangzhou 41
Munich 26
Verona 22
Norwalk 19
Seattle 19
Tokyo 19
Los Angeles 17
Des Moines 15
Piscataway 15
Washington 15
Chicago 14
Toronto 14
Fairfield 11
Brescia 9
Falkenstein 9
Kunming 9
Amsterdam 8
Houston 8
Auburn Hills 7
Brno 7
Cambridge 7
Chieti 7
Dallas 7
Jinan 7
Ningbo 7
Pune 7
Redwood City 7
Falls Church 6
Guangzhou 6
London 6
Pavia 6
Zhengzhou 6
Berlin 5
Frankfurt am Main 5
Rome 5
San Francisco 5
Ottawa 4
Padova 4
Albissola Marina 3
Borås 3
Changchun 3
Naples 3
Olomouc 3
Santa Clara 3
Borgo 2
Brisbane 2
Buffalo 2
Cardiff 2
Chengdu 2
Hong Kong 2
Huizhou 2
Kemerovo 2
Lima 2
Mascalucia 2
Orange 2
Osimo 2
Papillion 2
Paris 2
Pescara 2
Pompiano 2
Potenza Picena 2
Prazzo 2
Reston 2
Riese Pio X 2
San Maurizio Canavese 2
Shantou 2
Turin 2
Vado Ligure 2
Vesoul 2
Vicenza 2
Walsall 2
Wellington 2
Almaty 1
Amaral Ferrador 1
Andover 1
Totale 4.629
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Nome #
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva 104
Sequele oftalmologiche nel bambino nato pretermine - XX Convegno S.I.N. 96
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 93
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 93
Visual function recovery after early acquired occipital damage in a child: report of a case. 91
Leber's congenital amaurosis: is there an autistic component? 91
Spectrum of visual disorders in children with cerebral visual impairment. 90
Clinical and molecular phenotype of aicardi-goutieres syndrome. 89
Caractèristiques Neorophtalmologiques des Deficiences Visuelles d'Origine centrale liees aux malformations du developpement cortical. 87
Aicardi-Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder? 85
Lo sviluppo della visione nell'età evolutiva. In 'Oftalmologia Pediatrica'Cap. 1 Benedetto Ricci 85
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia. 85
Andamento dei potenziali evocati visivi a diverse frequenze spaziali e dell’acuità visiva in oltre 100 bambini affetti da cerebral visual impairment 85
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 80
Patologie oftalmoscopicamente silenti. 79
Sviluppo della visione nei prematuri:uno studio elettrofisiologico 79
Analisi epidemiologica dei movimenti oculari e vizi refrattivi in una coorte di bambini affetti da cvi 78
Aprassia oculomotoria congenita : riflessioni cliniche e riabilitative 77
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. 75
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia. 74
A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample 73
Transient nystagmus in delayed visual maturation. 72
Aicardi-Goutieres syndrome. 71
Deficit di cianocobalamina e distrofia retinica: caso clinico 70
Deficit sensoriali visivi: riabilitazione 69
Deficit visivo di origine psichica: 2 casi di spasmo accomodativi. 68
Infant sex, obstetric risk factors, and 2-year neurodevelopmental outcome among preterm infants. 68
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva. 67
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients 66
Miglioramento dell'acuità visiva e dei potenziali evocati visivi eseguiti a differenti frequenze spaziali dopo riabilitazione in 30 soggetti affetti da cerebral visual impairment 66
Reach on sound: a key to object permanence in visually impaired children. 66
Implicazioni non retiniche della prematurità : CVI, aspetti fisiopatogenici 66
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function 65
Relationship between visual acuity, visual evoked patterned potentials done at different spatial frequencies and fundus findings in more than 100 Cerebral Visual Impairment affected subjects. 65
Cerebral visual impairment in periventricular leukomalacia: MR correlation. 64
Cerebral visual impairment 64
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association 63
Deficit sensoriali visivi: clinica 63
Analysis of the correlation between three methods used in the assessment of children with cerebral palsy. 62
Factors predicting the efficacy of botulinum toxin-A treatment of the lower limb in children with cerebral palsy 62
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 62
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. 60
Problematiche neurologiche 60
Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years. 60
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 60
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 60
Improvement of visual acuity and visual evoked patterned potentials done at different spatial frequencies after rehabilitation in 30 subjects affected by Cerebral Visual Impairment 60
Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients. 59
Visual impairment in cerebral palsy 58
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 58
Time for a consensus conference on pain in neurorehabilitation 58
Obstetric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants 57
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 57
Age level vs grade level for the diagnosis of ADHD and neurodevelopmental disorders 57
Neurochemical evidence to implicate elevated glutamate in the mechanisms of high intraocular pressure (IOP)-induced retinal ganglion cell death in rat 56
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 56
Recovery of visual functions after early acquired occipital damage. 56
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 56
What is the role of the placebo effect for pain relief in neurorehabilitation? Clinical implications from the Italian consensus conference on pain in neurorehabilitation 56
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 56
Preeclampsia, preterm delivery and infant cerebral palsy. 55
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. 55
Disturbi della motilità oculare: fisiopatologia e riabilitazione 55
Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis 55
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 55
Obsteric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants 54
Recovery of visual functions after early acquired occipital damage. 54
Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia. 53
Valore predittivo dell'ERG 30Hz e a componente mista durante l'anestesia generale in pazienti affette da diverse patologie oculari : 10 anni di studio 52
Cerebral visual impairment in periventricular leukomalacia. 52
Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards. 52
Neurodevelopmental evolution of West syndrome: a 2-year prospective study 51
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 51
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 50
Early intervention in visually impaired children 49
Two-year infant neurodevelopmental outcome after single or multiple antenatal courses of corticosteroids to prevent complications of prematurity 49
Improvement of visual acuity and visual evoked patterned potentials done at different spatial frequencies after rehabilitation in 45 subjects affected by Cerebral Visual Impairment 49
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 49
Developmental Outcomes of Aicardi Goutières Syndrome 48
The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload. 47
Rational basis for the development of coenzyme Q10 as a neurotherapeutic agent for retinal protection. 47
Meconium-stained amniotic fluid and risk for cerebral palsy in preterm infants 47
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 47
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 46
Novel and emerging treatments for Aicardi-Goutières syndrome 46
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 45
Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects. 44
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 44
Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes. 42
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 42
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings. 41
Development of a neurologic severity scale for Aicardi Goutières Syndrome 41
Measuring the Outcomes of Maternal COVID-19-related Prenatal Exposure (MOM-COPE): Study protocol for a multicentric longitudinal project 41
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene 40
Sleep disturbances in visually impaired toddlers. 39
Ring chromosome 9: an atypical case. 39
Benign Paroxysmal Vertigo of Childhood: A Long-Term Follow-Up 39
Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing. 38
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection 38
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 38
Totale 6.087
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Categoria #
all - tutte 27.111
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 27.111
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020281 0 0 0 0 0 0 9 66 11 116 77 2
2020/2021600 66 46 36 58 9 80 17 87 31 80 72 18
2021/2022504 12 6 9 10 11 7 10 22 25 22 82 288
2022/20231.979 225 157 21 155 195 193 3 122 816 22 48 22
2023/2024758 97 98 31 51 60 201 18 42 1 26 61 72
2024/2025511 49 132 46 59 54 164 7 0 0 0 0 0
Totale 6.447