IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
EU - Europa 1.045
NA - Nord America 805
AS - Asia 498
SA - Sud America 6
OC - Oceania 1
Totale 2.355
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Nazione #
US - Stati Uniti d'America 802
SE - Svezia 555
SG - Singapore 237
CN - Cina 202
RU - Federazione Russa 171
IT - Italia 141
IE - Irlanda 50
FI - Finlandia 44
IN - India 37
NL - Olanda 30
DE - Germania 27
GB - Regno Unito 10
BR - Brasile 6
FR - Francia 6
IR - Iran 4
CA - Canada 3
ES - Italia 3
JP - Giappone 3
PK - Pakistan 3
VN - Vietnam 3
HK - Hong Kong 2
PL - Polonia 2
TW - Taiwan 2
UA - Ucraina 2
AM - Armenia 1
AU - Australia 1
AZ - Azerbaigian 1
CH - Svizzera 1
CZ - Repubblica Ceca 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LT - Lituania 1
RO - Romania 1
TR - Turchia 1
Totale 2.355
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Città #
Lawrence 194
Princeton 194
Singapore 154
Ashburn 150
Shanghai 91
Moscow 63
Milan 51
Dublin 50
Helsinki 40
Boardman 38
Pune 37
New York 19
Dallas 14
Guangzhou 14
Los Angeles 12
Dronten 10
Seattle 10
Rome 9
Beijing 6
Jiaxing 6
Meppel 6
Washington 5
Hangzhou 4
Hanover 4
Kassel 4
Naaldwijk 4
Shenzhen 4
Ancona 3
Kohat 3
Lappeenranta 3
Mountain View 3
Nam Định 3
Naples 3
Taizhou 3
Taranto 3
Arosio 2
Barreiras 2
Bologna 2
Clifton 2
Dalian 2
Henderson 2
Hong Kong 2
Montauro 2
Monza 2
Padova 2
Pistoia 2
San Giovanni in Persiceto 2
San Jose 2
Sansepolcro 2
Taipei 2
Toronto 2
Turin 2
Wilmington 2
Almaty 1
Amsterdam 1
Andover 1
Angri 1
Araçatuba 1
Baku 1
Barcelona 1
Bergamo 1
Bracke 1
Brugherio 1
Campinas 1
Cantù 1
Castelmoron-sur-Lot 1
Chengdu 1
Chiaravalle 1
Chicago 1
Florence 1
Forest City 1
Foshan 1
Fuzhou 1
Genoa 1
Handan 1
Jieyang 1
Karatsu 1
London 1
Macerata 1
Meieki 1
Nanjing 1
Oleggio 1
Omaha 1
Pescara 1
Piossasco 1
Pontedera 1
Presidente Venceslau 1
Qualiano 1
Redwood City 1
Rio de Janeiro 1
Rovato 1
Sandston 1
Santa Clara 1
Secaucus 1
Sevilla 1
Spinea 1
St. George 1
Stockton-on-Tees 1
Taiyuan 1
Torre Annunziata 1
Totale 1.300
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Nome #
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 35
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 32
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 31
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 30
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 28
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 27
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 24
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 24
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 23
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 22
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 22
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 22
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 22
A TRAPPC6B splicing variant associates to restless legs syndrome 22
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 22
Brugada syndrome genetics is associated with phenotype severity 22
Aldosterone influences serum magnesium in Gitelman syndrome 21
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 21
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 20
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 20
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 20
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 20
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 20
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 19
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 19
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 19
The mitochondrial protease AFG3L2 is essential for axonal development 19
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 19
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 19
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 19
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 19
SNP Prioritization Using a Bayesian Probability of Association 18
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 18
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 18
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 17
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 17
A novel truncated form of eNOS associates with altered vascular function 17
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 17
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 17
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 17
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 17
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 17
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 17
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 17
A recessive variant of the Romano-Ward Long-QT syndrome? 17
Linkage of alpha-adducin polymorphism to human essential hypertension 17
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 17
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 16
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 16
Guidelines for the use and interpretation of assays for monitoring autophagy 16
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 16
Further evidence of genetic heterogeneity in familial essential tremor 15
Genetic heterogeneity in Malattia Leventinese (vol 62, pg 399, 2002) 15
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 15
GENETICS OF RENAL DAMAGE IN PRIMARY HYPERTENSION 15
Identification and characterization of YME1L1, a novel paraplegin-related gene 15
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 15
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 15
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 15
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 15
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 15
Genetic studies of body mass index yield new insights for obesity biology 15
The Tightly Regulated and Compartmentalised Import,Sorting and Folding of Mitochondrial Proteins 14
What Makes Y Family Pols Potential Candidates for Molecular Targeted Therapies and Novel Biotechnological Applications 14
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 14
Intergenerational instability and marked anticipation in SCA-17 14
Uromodulin storage diseases: Clinical aspects and mechanisms 14
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 14
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 14
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis 14
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 14
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 14
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 13
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort 13
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 13
Identification and characterization of AFG3L2, a novel paraplegin-related gene 13
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 13
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 13
Molecular basis of inherited spastic paraplegias 13
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 13
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population 13
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 13
Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 13
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 13
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 13
Related polypeptides are encoded by Drosophila F elements, I factors, and mammalian L1 sequences 13
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 13
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease 13
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 13
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 13
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 13
NOVEL RAT CALPASTATIN MESSENGER-RNA VARIANTS 12
Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate 12
Gitelman syndrome is caused by mutations in the human Na-Cl cotransporter gene: Molecular analysis in Italian families. 12
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome 12
Dementia, ataxia, extrapyramidal features, and epilepsy: phenotype spectrum in two Italian families with spinocerebellar ataxia type 17 12
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2 12
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 12
SARS-CoV-2-related MIS-C: A key to the viral and genetic causes of Kawasaki disease? 11
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 11
Totale 1.699
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Categoria #
all - tutte 47.809
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 47.809
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202 0 0 0 0 0 0 1 0 0 1 0 0
2020/202115 0 1 1 0 1 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
2024/2025606 337 48 36 96 89 0 0 0 0 0 0 0
Totale 2.449