IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
AS - Asia 3.769
NA - Nord America 2.267
EU - Europa 1.774
SA - Sud America 1.078
AF - Africa 79
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.970
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Nazione #
US - Stati Uniti d'America 2.163
SG - Singapore 1.563
CN - Cina 1.021
BR - Brasile 923
HK - Hong Kong 592
SE - Svezia 577
IT - Italia 312
VN - Vietnam 253
DE - Germania 196
RU - Federazione Russa 195
GB - Regno Unito 87
IN - India 83
FI - Finlandia 82
AT - Austria 73
AR - Argentina 59
ID - Indonesia 53
IE - Irlanda 53
NL - Olanda 53
MX - Messico 43
CA - Canada 42
FR - Francia 42
PL - Polonia 40
EC - Ecuador 39
BD - Bangladesh 37
IQ - Iraq 29
ES - Italia 27
JP - Giappone 27
TR - Turchia 27
ZA - Sudafrica 27
CO - Colombia 20
MA - Marocco 13
LT - Lituania 12
PK - Pakistan 11
TN - Tunisia 11
CL - Cile 10
UA - Ucraina 10
VE - Venezuela 9
AZ - Azerbaigian 8
EG - Egitto 8
IR - Iran 8
KE - Kenya 8
UZ - Uzbekistan 8
KR - Corea 6
PE - Perù 6
AE - Emirati Arabi Uniti 5
ET - Etiopia 5
KW - Kuwait 5
PY - Paraguay 5
UY - Uruguay 5
NP - Nepal 4
PA - Panama 4
AL - Albania 3
AM - Armenia 3
DZ - Algeria 3
GT - Guatemala 3
HN - Honduras 3
JO - Giordania 3
LB - Libano 3
RO - Romania 3
SA - Arabia Saudita 3
BO - Bolivia 2
CH - Svizzera 2
CY - Cipro 2
CZ - Repubblica Ceca 2
DO - Repubblica Dominicana 2
KZ - Kazakistan 2
MY - Malesia 2
TW - Taiwan 2
AF - Afghanistan, Repubblica islamica di 1
AU - Australia 1
BB - Barbados 1
BG - Bulgaria 1
BJ - Benin 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
CR - Costa Rica 1
DM - Dominica 1
GR - Grecia 1
IL - Israele 1
JM - Giamaica 1
KG - Kirghizistan 1
LA - Repubblica Popolare Democratica del Laos 1
MD - Moldavia 1
NG - Nigeria 1
PH - Filippine 1
PR - Porto Rico 1
PS - Palestinian Territory 1
RS - Serbia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TC - Turks e Caicos 1
TL - Timor Orientale 1
TV - Tuvalu 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 8.970
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Città #
Singapore 650
Hong Kong 592
Dallas 426
Ashburn 340
Shanghai 270
Hefei 220
Lawrence 194
Princeton 194
Beijing 102
Milan 99
Ho Chi Minh City 88
São Paulo 79
Los Angeles 77
Nuremberg 71
New York 67
Moscow 65
Hanoi 57
Helsinki 51
Dublin 50
Munich 39
Boardman 38
Pune 38
Vienna 33
Rome 32
Warsaw 32
Guangzhou 31
Rio de Janeiro 30
The Dalles 28
Denver 27
Cesano Boscone 26
Brescia 25
Brooklyn 24
Brasília 23
Tokyo 23
Orem 22
Santa Clara 22
Stockholm 22
Poplar 20
Houston 19
Turku 19
Seattle 18
Belo Horizonte 17
Chennai 17
Columbus 17
Guayaquil 16
Phoenix 16
Chicago 15
Haiphong 14
Hangzhou 14
Mexico City 14
Porto Alegre 14
Ankara 13
Boston 13
London 13
Amsterdam 12
Atlanta 12
Manchester 12
Montreal 12
Campinas 11
Da Nang 11
Fortaleza 11
Johannesburg 11
Lappeenranta 11
Quito 11
Salvador 11
Curitiba 10
Dronten 10
Mumbai 10
San Francisco 10
Santo André 10
Baghdad 9
Biên Hòa 9
Baku 8
Jakarta 8
Nairobi 8
Frankfurt am Main 7
Guarulhos 7
Kassel 7
Osasco 7
San Jose 7
Toronto 7
Wolfhagen 7
Aracaju 6
Buenos Aires 6
Council Bluffs 6
Goiânia 6
Jiaxing 6
Juneau 6
Meppel 6
Querétaro 6
Recife 6
Sorocaba 6
Tashkent 6
Tunis 6
Uberlândia 6
Washington 6
Zhengzhou 6
Araxá 5
Araçatuba 5
Calgary 5
Totale 4.847
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Nome #
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 117
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 106
A TRAPPC6B splicing variant associates to restless legs syndrome 83
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 81
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 81
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 81
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 81
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 78
Brugada syndrome genetics is associated with phenotype severity 78
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 77
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 76
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 75
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 75
A novel truncated form of eNOS associates with altered vascular function 74
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 73
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 72
Aldosterone influences serum magnesium in Gitelman syndrome 71
The mitochondrial protease AFG3L2 is essential for axonal development 71
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 70
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 70
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 69
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome 67
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 67
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 67
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 65
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 65
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 64
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 63
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 63
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 63
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 63
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 62
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 61
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 61
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 60
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 60
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 60
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 60
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 59
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 58
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 58
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 58
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 58
Guidelines for the use and interpretation of assays for monitoring autophagy 57
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 56
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 56
Intergenerational instability and marked anticipation in SCA-17 56
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 56
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 55
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative 54
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19 54
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 53
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 52
Further evidence of genetic heterogeneity in familial essential tremor 51
A recessive variant of the Romano-Ward Long-QT syndrome? 51
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 50
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 49
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 49
SNP Prioritization Using a Bayesian Probability of Association 49
Linkage of alpha-adducin polymorphism to human essential hypertension 48
Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti–Type I Interferon Antibodies 47
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 47
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 47
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 47
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 46
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 46
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 46
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 45
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 45
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 45
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 45
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions 45
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 44
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 44
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 44
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 44
Human genetic and immunological determinants of critical COVID-19 pneumonia 44
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 43
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 43
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 42
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 42
Multi-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy 42
Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2 42
HUMAN TENASCIN - PRIMARY STRUCTURE, PRE-MESSENGER-RNA SPLICING PATTERNS AND LOCALIZATION OF THE EPITOPES RECOGNIZED BY 2 MONOCLONAL-ANTIBODIES 42
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children 41
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 41
Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear 41
Genetic studies of body mass index yield new insights for obesity biology 41
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs 40
Identification and characterization of AFG3L2, a novel paraplegin-related gene 40
AntiHunter: searching BLAST output for EST antisense transcripts 40
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 40
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage 40
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 39
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 39
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 39
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 39
AORTIC AND CORONARY ATHEROMATOSIS IN A WOMAN WITH SEVERE HYPERCHOLESTEROLEMIA WITHOUT LDL RECEPTOR ALTERATIONS 39
Uromodulin storage diseases: Clinical aspects and mechanisms 39
Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome? 39
Totale 5.621
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Categoria #
all - tutte 77.142
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 77.142
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202112 0 0 0 0 0 10 1 0 1 0 0 0
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
2025/20264.279 700 819 644 1.355 589 172 0 0 0 0 0 0
Totale 9.106