IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
AS - Asia 4.678
EU - Europa 4.523
NA - Nord America 3.172
SA - Sud America 1.148
AF - Africa 101
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 1
Totale 13.628
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Nazione #
US - Stati Uniti d'America 3.030
RU - Federazione Russa 2.529
SG - Singapore 1.681
CN - Cina 1.469
BR - Brasile 963
HK - Hong Kong 624
SE - Svezia 578
IT - Italia 408
VN - Vietnam 398
FR - Francia 249
DE - Germania 208
GB - Regno Unito 140
BD - Bangladesh 114
IN - India 113
FI - Finlandia 85
AT - Austria 75
AR - Argentina 72
NL - Olanda 62
CA - Canada 59
ID - Indonesia 57
IE - Irlanda 56
MX - Messico 48
ES - Italia 43
PL - Polonia 41
EC - Ecuador 40
TR - Turchia 39
IQ - Iraq 33
JP - Giappone 31
ZA - Sudafrica 30
CO - Colombia 25
MA - Marocco 16
PK - Pakistan 14
VE - Venezuela 14
LT - Lituania 13
TN - Tunisia 12
UA - Ucraina 12
CL - Cile 11
EG - Egitto 11
UZ - Uzbekistan 11
KE - Kenya 10
AZ - Azerbaigian 8
IR - Iran 8
ET - Etiopia 7
KR - Corea 7
PE - Perù 7
PH - Filippine 7
PY - Paraguay 7
SA - Arabia Saudita 7
AE - Emirati Arabi Uniti 6
NP - Nepal 6
CH - Svizzera 5
DZ - Algeria 5
KW - Kuwait 5
LB - Libano 5
UY - Uruguay 5
AU - Australia 4
BO - Bolivia 4
GT - Guatemala 4
HN - Honduras 4
JM - Giamaica 4
JO - Giordania 4
MD - Moldavia 4
MY - Malesia 4
PA - Panama 4
RO - Romania 4
AL - Albania 3
AM - Armenia 3
CR - Costa Rica 3
CY - Cipro 3
DO - Repubblica Dominicana 3
NI - Nicaragua 3
TW - Taiwan 3
CZ - Repubblica Ceca 2
KZ - Kazakistan 2
PR - Porto Rico 2
PS - Palestinian Territory 2
SN - Senegal 2
SV - El Salvador 2
TH - Thailandia 2
AF - Afghanistan, Repubblica islamica di 1
BB - Barbados 1
BG - Bulgaria 1
BH - Bahrain 1
BJ - Benin 1
BM - Bermuda 1
BN - Brunei Darussalam 1
BW - Botswana 1
CI - Costa d'Avorio 1
DM - Dominica 1
GR - Grecia 1
HR - Croazia 1
IL - Israele 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
ML - Mali 1
MN - Mongolia 1
MT - Malta 1
MZ - Mozambico 1
NG - Nigeria 1
Totale 13.615
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Città #
Singapore 736
Hong Kong 620
Moscow 580
Ashburn 510
San Jose 457
Dallas 435
Shanghai 277
Hefei 220
Lawrence 194
Princeton 194
Lauterbourg 192
Ho Chi Minh City 151
Beijing 133
Milan 114
New York 99
Hanoi 93
Los Angeles 88
São Paulo 86
Nuremberg 75
Helsinki 52
Dublin 51
Orem 46
Rome 41
Boardman 39
Munich 39
Pune 38
Santa Clara 37
Vienna 34
Guangzhou 33
Warsaw 32
Rio de Janeiro 31
Denver 30
Brooklyn 28
The Dalles 28
Cesano Boscone 26
Brescia 25
Chennai 25
Brasília 24
Tokyo 24
London 23
Stockholm 23
Houston 22
Haiphong 21
Phoenix 21
Poplar 21
Seattle 19
Turku 19
Belo Horizonte 17
Chicago 17
Columbus 17
Guayaquil 17
Manchester 17
Mexico City 17
Mumbai 17
Amsterdam 16
Montreal 16
Atlanta 15
Barnet 15
Da Nang 15
Porto Alegre 15
Ankara 14
Frankfurt am Main 14
Hangzhou 14
Boston 13
Lappeenranta 13
Salvador 13
Biên Hòa 12
Fortaleza 12
San Francisco 12
Toronto 12
Campinas 11
Council Bluffs 11
Curitiba 11
Johannesburg 11
Quito 11
Baghdad 10
Dronten 10
Santo André 10
Buenos Aires 9
Nairobi 9
Tashkent 9
Baku 8
City of London 8
Dhaka 8
Jakarta 8
Turin 8
Aracaju 7
Buffalo 7
Bắc Ninh 7
Guarulhos 7
Ha Long 7
Kassel 7
Osasco 7
Washington 7
Wolfhagen 7
Addis Ababa 6
Cairo 6
Cape Town 6
Goiânia 6
Jiaxing 6
Totale 6.691
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Nome #
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 188
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 134
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome 128
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 124
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 119
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 119
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 116
A TRAPPC6B splicing variant associates to restless legs syndrome 116
Allelism of medullary cystic disease, familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease caused by delayed uromodulin trafficking to plasma membrane and endoplasmic reticulum retention 116
Brugada syndrome genetics is associated with phenotype severity 115
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 114
A novel truncated form of eNOS associates with altered vascular function 112
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 112
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 109
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 109
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 108
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 106
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 106
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 104
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 102
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 102
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 101
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 98
Aldosterone influences serum magnesium in Gitelman syndrome 95
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 94
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 92
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 92
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative 91
The mitochondrial protease AFG3L2 is essential for axonal development 91
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 91
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 90
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 89
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 89
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 89
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 89
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 89
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 88
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 87
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 86
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 86
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19 86
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 85
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 85
Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies 84
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 84
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 84
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 83
A recessive variant of the Romano-Ward Long-QT syndrome? 83
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 83
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 83
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 82
Intergenerational instability and marked anticipation in SCA-17 82
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 79
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 79
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 76
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 76
Further evidence of genetic heterogeneity in familial essential tremor 75
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 75
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 75
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 74
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 74
Guidelines for the use and interpretation of assays for monitoring autophagy 73
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 73
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 72
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies 70
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 70
SNP Prioritization Using a Bayesian Probability of Association 69
Linkage of alpha-adducin polymorphism to human essential hypertension 69
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 68
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs 67
Identification and characterization of AFG3L2, a novel paraplegin-related gene 67
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 67
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions 67
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 67
Uromodulin storage diseases: Clinical aspects and mechanisms 66
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 65
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 65
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 64
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 64
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 64
HUMAN TENASCIN - PRIMARY STRUCTURE, PRE-MESSENGER-RNA SPLICING PATTERNS AND LOCALIZATION OF THE EPITOPES RECOGNIZED BY 2 MONOCLONAL-ANTIBODIES 64
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 63
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 63
Genetic studies of body mass index yield new insights for obesity biology 63
Human genetic and immunological determinants of critical COVID-19 pneumonia 63
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 62
Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer 62
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 62
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children 61
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 61
Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear 61
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 60
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 60
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 60
AntiHunter: searching BLAST output for EST antisense transcripts 59
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 59
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 59
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 59
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 57
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 57
Totale 8.375
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Categoria #
all - tutte 89.247
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 89.247
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022111 0 0 1 49 3 11 19 5 5 3 6 9
2022/20231.081 434 233 98 6 3 110 64 60 43 9 10 11
2023/2024585 12 21 76 39 80 146 16 46 3 15 29 102
2024/20252.984 337 48 36 96 127 241 344 287 486 469 250 263
2025/20268.937 700 819 644 1.355 589 273 843 690 2.306 465 244 9
Totale 13.764