FAZZI, ELISA MARIA
 Distribuzione geografica
Continente #
NA - Nord America 2.667
EU - Europa 1.961
AS - Asia 1.096
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 5
AF - Africa 3
SA - Sud America 3
Totale 5.741
Nazione #
US - Stati Uniti d'America 2.654
CN - Cina 1.078
IE - Irlanda 702
UA - Ucraina 311
FI - Finlandia 253
IT - Italia 196
DE - Germania 177
GB - Regno Unito 110
SE - Svezia 100
FR - Francia 48
BE - Belgio 41
CA - Canada 13
NL - Olanda 13
IN - India 9
EU - Europa 5
AU - Australia 3
NZ - Nuova Zelanda 3
RU - Federazione Russa 3
CH - Svizzera 2
JP - Giappone 2
MU - Mauritius 2
AE - Emirati Arabi Uniti 1
BR - Brasile 1
CL - Cile 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
GR - Grecia 1
HK - Hong Kong 1
IL - Israele 1
IR - Iran 1
KZ - Kazakistan 1
MD - Moldavia 1
PE - Perù 1
PH - Filippine 1
RO - Romania 1
TR - Turchia 1
ZA - Sudafrica 1
Totale 5.741
Città #
Dublin 700
Chandler 696
Jacksonville 348
Nanjing 307
Ashburn 179
Ann Arbor 163
Beijing 132
Nanchang 125
Princeton 110
Lawrence 108
Medford 105
Wilmington 100
Shenyang 98
Helsinki 89
Hebei 80
Changsha 75
Jiaxing 74
New York 69
Tianjin 57
Boardman 49
Shanghai 42
Woodbridge 42
Brussels 40
Milan 40
Hangzhou 39
Verona 22
Norwalk 19
Seattle 19
Des Moines 15
Washington 15
Los Angeles 13
Fairfield 11
Toronto 11
Amsterdam 8
Houston 8
Kunming 8
Auburn Hills 7
Brescia 7
Cambridge 7
Chieti 7
Jinan 7
Ningbo 7
Pune 7
Redwood City 7
Falls Church 6
Pavia 6
Berlin 5
London 4
Padova 4
San Francisco 4
Zhengzhou 4
Albissola Marina 3
Borås 3
Falkenstein 3
Borgo 2
Brisbane 2
Buffalo 2
Changchun 2
Kemerovo 2
Naples 2
Orange 2
Paris 2
Potenza Picena 2
Prazzo 2
Reston 2
Rome 2
San Maurizio Canavese 2
Santa Clara 2
Turin 2
Vado Ligure 2
Vesoul 2
Vicenza 2
Wellington 2
Almaty 1
Andover 1
Athens 1
Atlanta 1
Bartın 1
Brno 1
Calderara Di Reno 1
Canterbury 1
Central District 1
Centurion 1
Charlotte 1
Chazay-d'azergues 1
Chisinau 1
Como 1
De Meern 1
Dearborn 1
Doncaster 1
Frankfurt am Main 1
Fuzhou 1
Genoa 1
Gorgonzola 1
Guangzhou 1
Gunzenhausen 1
Harrogate 1
Ipswich 1
Leeds 1
Leidschendam 1
Totale 4.179
Nome #
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva 96
Sequele oftalmologiche nel bambino nato pretermine - XX Convegno S.I.N. 90
Clinical and molecular phenotype of aicardi-goutieres syndrome. 85
Leber's congenital amaurosis: is there an autistic component? 85
Spectrum of visual disorders in children with cerebral visual impairment. 84
Visual function recovery after early acquired occipital damage in a child: report of a case. 83
Lo sviluppo della visione nell'età evolutiva. In 'Oftalmologia Pediatrica'Cap. 1 Benedetto Ricci 80
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia. 80
Andamento dei potenziali evocati visivi a diverse frequenze spaziali e dell’acuità visiva in oltre 100 bambini affetti da cerebral visual impairment 80
Caractèristiques Neorophtalmologiques des Deficiences Visuelles d'Origine centrale liees aux malformations du developpement cortical. 80
Aicardi-Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder? 79
Sviluppo della visione nei prematuri:uno studio elettrofisiologico 77
Patologie oftalmoscopicamente silenti. 75
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 74
Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome. 73
Aprassia oculomotoria congenita : riflessioni cliniche e riabilitative 71
Analisi epidemiologica dei movimenti oculari e vizi refrattivi in una coorte di bambini affetti da cvi 69
A questionnaire on sleep behaviour in the first years of life: preliminary results from a normative sample 67
Aicardi-Goutieres syndrome. 67
Deficit visivo di origine psichica: 2 casi di spasmo accomodativi. 65
Deficit di cianocobalamina e distrofia retinica: caso clinico 65
Deficit sensoriali visivi: riabilitazione 64
The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients 63
Cognitive visual dysfunctions in preterm children with periventricular leukomalacia. 63
Infant sex, obstetric risk factors, and 2-year neurodevelopmental outcome among preterm infants. 63
Miglioramento dell'acuità visiva e dei potenziali evocati visivi eseguiti a differenti frequenze spaziali dopo riabilitazione in 30 soggetti affetti da cerebral visual impairment 63
Controlli longitudinali mediante Potenziali evocati visivi e acuità visiva soggettiva in bambini affetti da Cerebral Visual Impairment: efficacia della riabilitazione visiva. 63
Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function 62
Deficit sensoriali visivi: clinica 61
Cerebral visual impairment in periventricular leukomalacia: MR correlation. 61
Cerebral visual impairment 61
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association 60
Transient nystagmus in delayed visual maturation. 60
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. 60
Factors predicting the efficacy of botulinum toxin-A treatment of the lower limb in children with cerebral palsy 60
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. 59
Implicazioni non retiniche della prematurità : CVI, aspetti fisiopatogenici 59
Analysis of the correlation between three methods used in the assessment of children with cerebral palsy. 58
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders 58
Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years. 57
Problematiche neurologiche 56
Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome 56
Obstetric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants 55
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 55
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 55
Neurochemical evidence to implicate elevated glutamate in the mechanisms of high intraocular pressure (IOP)-induced retinal ganglion cell death in rat 54
Visual impairment in cerebral palsy 54
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 54
Reach on sound: a key to object permanence in visually impaired children. 54
Ciguatera poisoning in early pregnancy and severe visual impairment in the child: a case report. 54
Preeclampsia, preterm delivery and infant cerebral palsy. 53
Obsteric risk factors and persistent increases in brain parenchymal echogenicity in preterm infants 52
Recovery of visual functions after early acquired occipital damage. 52
Disturbi della motilità oculare: fisiopatologia e riabilitazione 52
Recovery of visual functions after early acquired occipital damage. 52
Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature 52
Cognitive profiles and visuoperceptual abilities in preterm and term spastic diplegic children with periventricular leukomalacia. 51
Interferon-Related Transcriptome Alterations in the Cerebrospinal Fluid Cells of Aicardi-Goutières Patients. 51
Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. 50
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 50
Visual acuity in the first two years of life in healthy term newborns: an experience with the teller acuity cards. 50
Age level vs grade level for the diagnosis of ADHD and neurodevelopmental disorders 50
Improvement of visual acuity and visual evoked patterned potentials done at different spatial frequencies after rehabilitation in 30 subjects affected by Cerebral Visual Impairment 50
Encephalopathies with intracranial calcification in children: Clinical and genetic characterization 50
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. 49
Time for a consensus conference on pain in neurorehabilitation 49
Neurodevelopmental evolution of West syndrome: a 2-year prospective study 48
Valore predittivo dell'ERG 30Hz e a componente mista durante l'anestesia generale in pazienti affette da diverse patologie oculari : 10 anni di studio 48
Two-year infant neurodevelopmental outcome after single or multiple antenatal courses of corticosteroids to prevent complications of prematurity 48
Early intervention in visually impaired children 47
Cerebral visual impairment in periventricular leukomalacia. 47
Oral melatonin as a new tool for neuroprotection in preterm newborns: study protocol for a randomized controlled trial 47
The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload. 46
Rational basis for the development of coenzyme Q10 as a neurotherapeutic agent for retinal protection. 45
Changes in the optic disc excavation of children affected by cerebral visual impairment: a tomographic analysis 45
Meconium-stained amniotic fluid and risk for cerebral palsy in preterm infants 45
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review 45
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 44
Improvement of visual acuity and visual evoked patterned potentials done at different spatial frequencies after rehabilitation in 45 subjects affected by Cerebral Visual Impairment 44
What is the role of the placebo effect for pain relief in neurorehabilitation? Clinical implications from the Italian consensus conference on pain in neurorehabilitation 44
Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects. 43
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings 42
Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes. 41
Towards improved clinical characterization of Leber congenital amaurosis: neurological and systemic findings. 40
Developmental Outcomes of Aicardi Goutières Syndrome 40
Sleep disturbances in visually impaired toddlers. 38
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function 38
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B 38
Ring chromosome 9: an atypical case. 37
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection 37
Novel and emerging treatments for Aicardi-Goutières syndrome 37
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features 37
Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing. 36
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome 36
Biomarkers and Precision Therapy for Primary Immunodeficiencies: An In Vitro Study Based on Induced Pluripotent Stem Cells From Patients 36
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption” 36
Benign Paroxysmal Vertigo of Childhood: A Long-Term Follow-Up 34
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 33
Towards improved clinical charaterization of Leber congenital amaurosis. Neurological and systemic findings 32
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome 32
Totale 5.526
Categoria #
all - tutte 19.215
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 19.215


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201924 0 0 0 0 0 0 0 0 0 0 11 13
2019/20201.271 355 510 2 54 8 61 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
2023/2024628 97 98 31 51 60 201 18 42 1 26 3 0
Totale 5.806