IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
AS - Asia 3.731
NA - Nord America 2.192
EU - Europa 1.758
SA - Sud America 1.071
AF - Africa 76
OC - Oceania 2
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.831
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Nazione #
US - Stati Uniti d'America 2.092
SG - Singapore 1.556
CN - Cina 1.013
BR - Brasile 916
HK - Hong Kong 588
SE - Svezia 574
IT - Italia 310
VN - Vietnam 248
DE - Germania 196
RU - Federazione Russa 195
GB - Regno Unito 86
FI - Finlandia 82
IN - India 82
AT - Austria 72
AR - Argentina 59
ID - Indonesia 53
IE - Irlanda 53
NL - Olanda 52
FR - Francia 42
CA - Canada 41
MX - Messico 40
EC - Ecuador 39
PL - Polonia 36
BD - Bangladesh 33
IQ - Iraq 28
ZA - Sudafrica 27
ES - Italia 26
JP - Giappone 25
TR - Turchia 24
CO - Colombia 20
MA - Marocco 12
PK - Pakistan 11
TN - Tunisia 11
CL - Cile 10
LT - Lituania 10
UA - Ucraina 10
VE - Venezuela 9
AZ - Azerbaigian 8
EG - Egitto 8
UZ - Uzbekistan 8
KE - Kenya 7
KR - Corea 6
PE - Perù 6
AE - Emirati Arabi Uniti 5
IR - Iran 5
KW - Kuwait 5
PY - Paraguay 5
UY - Uruguay 5
ET - Etiopia 4
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
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 8.831
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Città #
Singapore 643
Hong Kong 588
Dallas 426
Ashburn 323
Shanghai 270
Hefei 220
Lawrence 194
Princeton 194
Beijing 101
Milan 98
Ho Chi Minh City 86
São Paulo 78
Nuremberg 71
Los Angeles 70
Moscow 65
New York 60
Hanoi 56
Helsinki 51
Dublin 50
Munich 39
Boardman 38
Pune 38
Vienna 33
Rome 32
Guangzhou 31
Rio de Janeiro 30
The Dalles 28
Warsaw 28
Cesano Boscone 26
Brescia 25
Denver 24
Brasília 22
Brooklyn 22
Santa Clara 21
Tokyo 21
Houston 19
Poplar 19
Stockholm 19
Turku 19
Seattle 18
Belo Horizonte 17
Columbus 17
Chennai 16
Guayaquil 16
Orem 16
Chicago 14
Haiphong 14
Hangzhou 14
Phoenix 14
Porto Alegre 14
London 13
Mexico City 13
Atlanta 12
Manchester 12
Amsterdam 11
Boston 11
Campinas 11
Da Nang 11
Fortaleza 11
Johannesburg 11
Lappeenranta 11
Montreal 11
Quito 11
Salvador 11
Ankara 10
Curitiba 10
Dronten 10
Mumbai 10
San Francisco 10
Santo André 10
Baghdad 9
Biên Hòa 9
Baku 8
Jakarta 8
Frankfurt am Main 7
Guarulhos 7
Kassel 7
Nairobi 7
Osasco 7
San Jose 7
Toronto 7
Wolfhagen 7
Aracaju 6
Buenos Aires 6
Council Bluffs 6
Goiânia 6
Jiaxing 6
Meppel 6
Recife 6
Sorocaba 6
Tashkent 6
Tunis 6
Uberlândia 6
Washington 6
Zhengzhou 6
Araxá 5
Araçatuba 5
Calgary 5
Cape Town 5
Cleveland 5
Totale 4.761
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Nome #
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 116
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 105
A TRAPPC6B splicing variant associates to restless legs syndrome 82
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 80
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 79
Brugada syndrome genetics is associated with phenotype severity 78
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 77
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 75
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 75
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 74
A novel truncated form of eNOS associates with altered vascular function 73
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 72
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 72
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 72
Aldosterone influences serum magnesium in Gitelman syndrome 69
The mitochondrial protease AFG3L2 is essential for axonal development 69
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 69
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 69
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 68
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome 66
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 66
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 66
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 64
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 63
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 63
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 62
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 62
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 62
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 62
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 61
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 60
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 60
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 59
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 59
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 59
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 58
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 58
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 58
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 57
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency 57
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 55
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 55
Intergenerational instability and marked anticipation in SCA-17 55
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 55
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 54
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 54
Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative 53
Guidelines for the use and interpretation of assays for monitoring autophagy 53
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19 51
Further evidence of genetic heterogeneity in familial essential tremor 50
A recessive variant of the Romano-Ward Long-QT syndrome? 50
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 50
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 50
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 49
SNP Prioritization Using a Bayesian Probability of Association 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
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 47
Linkage of alpha-adducin polymorphism to human essential hypertension 47
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 46
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 46
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 46
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 46
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 45
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 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
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 45
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 45
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 44
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions 44
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 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
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 43
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 43
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
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
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 41
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 41
Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear 41
HUMAN TENASCIN - PRIMARY STRUCTURE, PRE-MESSENGER-RNA SPLICING PATTERNS AND LOCALIZATION OF THE EPITOPES RECOGNIZED BY 2 MONOCLONAL-ANTIBODIES 41
Genetic studies of body mass index yield new insights for obesity biology 41
Identification and characterization of AFG3L2, a novel paraplegin-related gene 40
AntiHunter: searching BLAST output for EST antisense transcripts 40
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs 39
Studying severe long COVID to understand post-infectious disorders beyond COVID-19 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
The biophysical properties of Beta2-V287L mutant neuronal nicotinic receptors linked to ADNFLE. 39
Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome? 39
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage 39
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 38
Genetic heterogeneity in Malattia Leventinese (vol 62, pg 399, 2002) 38
AORTIC AND CORONARY ATHEROMATOSIS IN A WOMAN WITH SEVERE HYPERCHOLESTEROLEMIA WITHOUT LDL RECEPTOR ALTERATIONS 38
Totale 5.525
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Categoria #
all - tutte 76.631
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 76.631
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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
2025/20264.140 700 819 644 1.355 589 33 0 0 0 0 0 0
Totale 8.967