IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
AS - Asia 4.895
EU - Europa 4.699
NA - Nord America 4.673
SA - Sud America 1.162
Continente sconosciuto - Info sul continente non disponibili 138
AF - Africa 101
OC - Oceania 5
Totale 15.673
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Nazione #
US - Stati Uniti d'America 4.449
RU - Federazione Russa 2.529
SG - Singapore 1.711
CN - Cina 1.546
BR - Brasile 967
HK - Hong Kong 636
SE - Svezia 579
IT - Italia 561
VN - Vietnam 408
FR - Francia 253
DE - Germania 209
BD - Bangladesh 168
GB - Regno Unito 146
IN - India 115
CA - Canada 99
FI - Finlandia 85
AT - Austria 75
AR - Argentina 73
ID - Indonesia 63
NL - Olanda 62
IE - Irlanda 56
MX - Messico 53
ES - Italia 46
EC - Ecuador 43
PL - Polonia 41
TR - Turchia 39
IQ - Iraq 33
JP - Giappone 33
ZA - Sudafrica 30
CO - Colombia 29
MA - Marocco 16
PK - Pakistan 15
VE - Venezuela 15
LT - Lituania 13
MY - Malesia 13
UA - Ucraina 13
CL - Cile 12
TN - Tunisia 12
EG - Egitto 11
PH - Filippine 11
UZ - Uzbekistan 11
JM - Giamaica 10
KE - Kenya 10
NI - Nicaragua 10
AE - Emirati Arabi Uniti 8
AZ - Azerbaigian 8
CR - Costa Rica 8
IR - Iran 8
KR - Corea 8
NP - Nepal 8
ET - Etiopia 7
HN - Honduras 7
PE - Perù 7
PY - Paraguay 7
SA - Arabia Saudita 7
SV - El Salvador 7
CH - Svizzera 5
DZ - Algeria 5
GT - Guatemala 5
KW - Kuwait 5
LB - Libano 5
RO - Romania 5
UY - Uruguay 5
AM - Armenia 4
AU - Australia 4
BO - Bolivia 4
JO - Giordania 4
MD - Moldavia 4
PA - Panama 4
PR - Porto Rico 4
TT - Trinidad e Tobago 4
TW - Taiwan 4
AL - Albania 3
CY - Cipro 3
CZ - Repubblica Ceca 3
DO - Repubblica Dominicana 3
GR - Grecia 3
KZ - Kazakistan 3
TH - Thailandia 3
BB - Barbados 2
DM - Dominica 2
PS - Palestinian Territory 2
SN - Senegal 2
SY - Repubblica araba siriana 2
AF - Afghanistan, Repubblica islamica di 1
BE - Belgio 1
BG - Bulgaria 1
BH - Bahrain 1
BJ - Benin 1
BM - Bermuda 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CU - Cuba 1
CW - ???statistics.table.value.countryCode.CW??? 1
EE - Estonia 1
GD - Grenada 1
HR - Croazia 1
Totale 15.517
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Città #
Singapore 759
Hong Kong 630
Moscow 580
San Jose 577
Ashburn 576
Dallas 444
Shanghai 277
Council Bluffs 230
Hefei 220
Lawrence 194
Princeton 194
Lauterbourg 192
Beijing 155
Ho Chi Minh City 155
Milan 138
New York 113
Los Angeles 103
Phoenix 96
Santa Clara 96
Hanoi 94
São Paulo 87
Nuremberg 75
Rome 65
Helsinki 52
Dublin 51
Orem 47
Boardman 39
Munich 39
Brooklyn 38
Pune 38
Denver 37
Vienna 34
Guangzhou 33
Warsaw 32
Rio de Janeiro 31
Atlanta 30
Chicago 28
Houston 28
The Dalles 28
Brescia 26
Cesano Boscone 26
Seattle 26
Chennai 25
Tokyo 25
Brasília 24
London 24
Stockholm 24
Montreal 23
Boston 21
Haiphong 21
Mexico City 21
Poplar 21
Columbus 19
Manchester 19
Mumbai 19
San Francisco 19
Turku 19
Guayaquil 18
Belo Horizonte 17
Toronto 17
Amsterdam 16
Da Nang 16
Barnet 15
Hangzhou 15
Porto Alegre 15
Ankara 14
Frankfurt am Main 14
Bologna 13
Lappeenranta 13
Salvador 13
Biên Hòa 12
Buffalo 12
Fortaleza 12
Campinas 11
Curitiba 11
Johannesburg 11
Philadelphia 11
Queens 11
Quito 11
Baghdad 10
Dronten 10
Miami 10
Santo André 10
Washington 10
Buenos Aires 9
Dhaka 9
Kuala Lumpur 9
Nairobi 9
Naples 9
Tashkent 9
Baku 8
City of London 8
Jakarta 8
Las Vegas 8
Managua 8
Omaha 8
Turin 8
Aracaju 7
Bắc Ninh 7
Cleveland 7
Totale 7.516
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Nome #
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 281
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 258
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 148
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome 144
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 142
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 137
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 132
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 129
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 128
Brugada syndrome genetics is associated with phenotype severity 128
A novel truncated form of eNOS associates with altered vascular function 122
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 122
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 122
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 121
A TRAPPC6B splicing variant associates to restless legs syndrome 121
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 119
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 118
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 116
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 114
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 114
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 113
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 113
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 111
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 110
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 105
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 104
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 103
Human genetic and immunological determinants of critical COVID-19 pneumonia 101
Aldosterone influences serum magnesium in Gitelman syndrome 100
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative 99
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 99
The mitochondrial protease AFG3L2 is essential for axonal development 98
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 98
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 98
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 98
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19 98
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 97
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 97
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 96
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 96
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 94
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 94
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 94
Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies 93
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 93
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 93
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 93
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 93
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 92
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 92
Intergenerational instability and marked anticipation in SCA-17 90
A recessive variant of the Romano-Ward Long-QT syndrome? 90
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 89
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 89
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 88
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 88
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 87
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 84
Guidelines for the use and interpretation of assays for monitoring autophagy 84
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 83
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 82
Further evidence of genetic heterogeneity in familial essential tremor 80
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 80
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 80
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs 79
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 79
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 79
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 78
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 78
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 78
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 77
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 77
SNP Prioritization Using a Bayesian Probability of Association 77
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions 77
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 76
Uromodulin storage diseases: Clinical aspects and mechanisms 75
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 74
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 74
Linkage of alpha-adducin polymorphism to human essential hypertension 73
HUMAN TENASCIN - PRIMARY STRUCTURE, PRE-MESSENGER-RNA SPLICING PATTERNS AND LOCALIZATION OF THE EPITOPES RECOGNIZED BY 2 MONOCLONAL-ANTIBODIES 73
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 72
Identification and characterization of AFG3L2, a novel paraplegin-related gene 71
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 71
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 71
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 70
Genetic studies of body mass index yield new insights for obesity biology 70
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 69
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children 68
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 68
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 67
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 67
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 66
From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio 66
α‐ADDUCIN MAY CONTROL BLOOD PRESSURE BOTH IN RATS AND HUMANS 65
Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer 65
Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis 65
Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures - A newly recognized epilepsy syndrome with linkage to chromosome 2p11,1-q.12.2 65
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 65
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 64
AntiHunter: searching BLAST output for EST antisense transcripts 64
Totale 9.548
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Categoria #
all - tutte 99.758
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 99.758
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022110 0 0 0 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
2025/20269.197 700 819 644 1.355 589 273 843 690 2.306 465 244 269
2026/20271.649 520 524 517 88 0 0 0 0 0 0 0 0
Totale 15.673