IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
AS - Asia 4.840
EU - Europa 4.612
NA - Nord America 3.716
SA - Sud America 1.157
Continente sconosciuto - Info sul continente non disponibili 138
AF - Africa 101
OC - Oceania 5
Totale 14.569
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Nazione #
US - Stati Uniti d'America 3.539
RU - Federazione Russa 2.529
SG - Singapore 1.693
CN - Cina 1.532
BR - Brasile 966
HK - Hong Kong 628
SE - Svezia 578
IT - Italia 489
VN - Vietnam 407
FR - Francia 250
DE - Germania 208
BD - Bangladesh 164
GB - Regno Unito 140
IN - India 115
FI - Finlandia 85
CA - Canada 76
AT - Austria 75
AR - Argentina 72
NL - Olanda 62
ID - Indonesia 59
IE - Irlanda 56
MX - Messico 52
ES - Italia 44
EC - Ecuador 43
PL - Polonia 41
TR - Turchia 39
IQ - Iraq 33
JP - Giappone 31
ZA - Sudafrica 30
CO - Colombia 27
MA - Marocco 16
PK - Pakistan 14
VE - Venezuela 14
LT - Lituania 13
CL - Cile 12
MY - Malesia 12
TN - Tunisia 12
UA - Ucraina 12
EG - Egitto 11
PH - Filippine 11
UZ - Uzbekistan 11
KE - Kenya 10
AE - Emirati Arabi Uniti 8
AZ - Azerbaigian 8
IR - Iran 8
KR - Corea 8
NP - Nepal 8
ET - Etiopia 7
PE - Perù 7
PY - Paraguay 7
SA - Arabia Saudita 7
NI - Nicaragua 6
CH - Svizzera 5
DZ - Algeria 5
GT - Guatemala 5
HN - Honduras 5
JM - Giamaica 5
KW - Kuwait 5
LB - Libano 5
RO - Romania 5
SV - El Salvador 5
UY - Uruguay 5
AU - Australia 4
BO - Bolivia 4
CR - Costa Rica 4
JO - Giordania 4
MD - Moldavia 4
PA - Panama 4
TW - Taiwan 4
AL - Albania 3
AM - Armenia 3
CY - Cipro 3
CZ - Repubblica Ceca 3
DO - Repubblica Dominicana 3
GR - Grecia 3
PR - Porto Rico 3
TH - Thailandia 3
BB - Barbados 2
DM - Dominica 2
KZ - Kazakistan 2
PS - Palestinian Territory 2
SN - Senegal 2
SY - Repubblica araba siriana 2
TT - Trinidad e Tobago 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
BW - Botswana 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CW - ???statistics.table.value.countryCode.CW??? 1
HR - Croazia 1
IL - Israele 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
Totale 14.417
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Città #
Singapore 743
Hong Kong 622
Moscow 580
Ashburn 530
San Jose 462
Dallas 442
Shanghai 277
Hefei 220
Lawrence 194
Princeton 194
Lauterbourg 192
Ho Chi Minh City 155
Beijing 143
Milan 126
New York 111
Los Angeles 97
Hanoi 94
São Paulo 86
Santa Clara 81
Nuremberg 75
Rome 61
Helsinki 52
Dublin 51
Orem 47
Boardman 39
Munich 39
Pune 38
Brooklyn 34
Vienna 34
Guangzhou 33
Warsaw 32
Rio de Janeiro 31
Denver 30
The Dalles 28
Brescia 26
Cesano Boscone 26
Chennai 25
Seattle 25
Brasília 24
London 24
Phoenix 24
Tokyo 24
Houston 23
Stockholm 23
Council Bluffs 22
Chicago 21
Haiphong 21
Poplar 21
Atlanta 20
Boston 20
Mexico City 20
Mumbai 19
Turku 19
Guayaquil 18
Belo Horizonte 17
Columbus 17
Manchester 17
Toronto 17
Amsterdam 16
Da Nang 16
Montreal 16
Barnet 15
Hangzhou 15
Porto Alegre 15
Ankara 14
Frankfurt am Main 14
San Francisco 14
Lappeenranta 13
Salvador 13
Biên Hòa 12
Buffalo 12
Fortaleza 12
Campinas 11
Curitiba 11
Johannesburg 11
Quito 11
Baghdad 10
Dronten 10
Santo André 10
Bologna 9
Buenos Aires 9
Dhaka 9
Kuala Lumpur 9
Nairobi 9
Tashkent 9
Washington 9
Baku 8
City of London 8
Jakarta 8
Las Vegas 8
Miami 8
Omaha 8
Philadelphia 8
Turin 8
Aracaju 7
Bắc Ninh 7
Goiânia 7
Guarulhos 7
Ha Long 7
Kassel 7
Totale 6.926
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Nome #
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 251
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes 249
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 143
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 132
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome 130
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 129
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 127
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 123
Brugada syndrome genetics is associated with phenotype severity 123
A TRAPPC6B splicing variant associates to restless legs syndrome 117
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 117
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 116
A novel truncated form of eNOS associates with altered vascular function 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
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 116
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 114
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 113
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 112
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 111
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 109
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 107
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 106
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 105
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 102
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 99
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 98
Aldosterone influences serum magnesium in Gitelman syndrome 95
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative 94
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 94
The mitochondrial protease AFG3L2 is essential for axonal development 93
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 93
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 92
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19 92
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 91
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 91
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 91
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 91
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 89
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 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
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 89
Human genetic and immunological determinants of critical COVID-19 pneumonia 89
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 88
Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies 87
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 87
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 87
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 87
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 86
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 86
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 85
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 85
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 85
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 84
A recessive variant of the Romano-Ward Long-QT syndrome? 83
Intergenerational instability and marked anticipation in SCA-17 82
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 82
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 81
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 79
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 78
Guidelines for the use and interpretation of assays for monitoring autophagy 78
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 77
Further evidence of genetic heterogeneity in familial essential tremor 76
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 75
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 75
SNP Prioritization Using a Bayesian Probability of Association 73
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 72
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 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 71
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 71
Linkage of alpha-adducin polymorphism to human essential hypertension 71
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 71
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 70
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 70
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs 70
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions 69
HUMAN TENASCIN - PRIMARY STRUCTURE, PRE-MESSENGER-RNA SPLICING PATTERNS AND LOCALIZATION OF THE EPITOPES RECOGNIZED BY 2 MONOCLONAL-ANTIBODIES 69
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 68
Uromodulin storage diseases: Clinical aspects and mechanisms 68
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 68
Identification and characterization of AFG3L2, a novel paraplegin-related gene 67
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 65
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 65
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 65
Genetic studies of body mass index yield new insights for obesity biology 65
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 65
Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children 64
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 64
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 63
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 63
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 63
Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer 62
Genotype-phenotype correlations in normotensive patients with primary renal tubular hypokalemic metabolic alkalosis 62
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 62
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 61
Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear 61
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 60
AntiHunter: searching BLAST output for EST antisense transcripts 60
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 60
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 60
Totale 8.955
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Categoria #
all - tutte 94.629
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 94.629
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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
2025/20269.197 700 819 644 1.355 589 273 843 690 2.306 465 244 269
2026/2027545 520 25 0 0 0 0 0 0 0 0 0 0
Totale 14.569