IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
EU - Europa 1.013
NA - Nord America 780
AS - Asia 339
SA - Sud America 2
OC - Oceania 1
Totale 2.135
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Nazione #
US - Stati Uniti d'America 777
SE - Svezia 555
SG - Singapore 183
RU - Federazione Russa 170
IT - Italia 126
CN - Cina 103
IE - Irlanda 50
FI - Finlandia 40
IN - India 37
NL - Olanda 28
DE - Germania 23
GB - Regno Unito 9
FR - Francia 6
CA - Canada 3
ES - Italia 3
JP - Giappone 3
PK - Pakistan 3
VN - Vietnam 3
BR - Brasile 2
HK - Hong Kong 2
IR - Iran 2
TW - Taiwan 2
UA - Ucraina 2
AU - Australia 1
CZ - Repubblica Ceca 1
TR - Turchia 1
Totale 2.135
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Città #
Lawrence 194
Princeton 194
Ashburn 150
Singapore 115
Shanghai 82
Moscow 62
Dublin 50
Milan 48
Boardman 38
Helsinki 38
Pune 37
New York 18
Dallas 14
Dronten 10
Seattle 10
Rome 9
Los Angeles 7
Meppel 6
Washington 5
Hanover 4
Naaldwijk 4
Ancona 3
Guangzhou 3
Kohat 3
Mountain View 3
Nam Định 3
Taranto 3
Arosio 2
Barreiras 2
Bologna 2
Clifton 2
Henderson 2
Hong Kong 2
Lappeenranta 2
Montauro 2
Naples 2
Padova 2
Pistoia 2
San Giovanni in Persiceto 2
San Jose 2
Taipei 2
Toronto 2
Wilmington 2
Andover 1
Angri 1
Barcelona 1
Beijing 1
Bergamo 1
Bracke 1
Brugherio 1
Cantù 1
Castelmoron-sur-Lot 1
Chiaravalle 1
Chicago 1
Forest City 1
Genoa 1
Hangzhou 1
Karatsu 1
London 1
Macerata 1
Meieki 1
Monza 1
Nanjing 1
Oleggio 1
Omaha 1
Pescara 1
Piossasco 1
Pontedera 1
Redwood City 1
Rovato 1
Sandston 1
Santa Clara 1
Secaucus 1
Sevilla 1
Spinea 1
St. George 1
Stockton-on-Tees 1
Torre Annunziata 1
Xuzhou 1
Totale 1.181
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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 34
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 28
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 27
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 26
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 24
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 23
Brugada syndrome genetics is associated with phenotype severity 21
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 20
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 20
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 20
A TRAPPC6B splicing variant associates to restless legs syndrome 20
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 20
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 20
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 19
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 19
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 19
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 18
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 18
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 18
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 18
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 17
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 17
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 17
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 17
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 17
Aldosterone influences serum magnesium in Gitelman syndrome 16
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 16
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 16
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 16
The mitochondrial protease AFG3L2 is essential for axonal development 16
Guidelines for the use and interpretation of assays for monitoring autophagy 16
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 16
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 16
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 15
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 15
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 15
SNP Prioritization Using a Bayesian Probability of Association 15
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 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
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 15
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 14
A novel truncated form of eNOS associates with altered vascular function 14
GENETICS OF RENAL DAMAGE IN PRIMARY HYPERTENSION 14
Identification and characterization of YME1L1, a novel paraplegin-related gene 14
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 14
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 14
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 14
Linkage of alpha-adducin polymorphism to human essential hypertension 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
Genetic studies of body mass index yield new insights for obesity biology 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
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 14
The Tightly Regulated and Compartmentalised Import,Sorting and Folding of Mitochondrial Proteins 13
Further evidence of genetic heterogeneity in familial essential tremor 13
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 13
Genetic heterogeneity in Malattia Leventinese (vol 62, pg 399, 2002) 13
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 13
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population 13
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 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
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 13
Uromodulin storage diseases: Clinical aspects and mechanisms 13
A recessive variant of the Romano-Ward Long-QT syndrome? 13
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 13
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 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
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 12
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 12
Identification and characterization of AFG3L2, a novel paraplegin-related gene 12
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 12
What Makes Y Family Pols Potential Candidates for Molecular Targeted Therapies and Novel Biotechnological Applications 12
Molecular basis of inherited spastic paraplegias 12
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 12
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 12
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome 12
Related polypeptides are encoded by Drosophila F elements, I factors, and mammalian L1 sequences 12
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 12
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease 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
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 12
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 12
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 11
NOVEL RAT CALPASTATIN MESSENGER-RNA VARIANTS 11
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 11
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 11
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 11
Gitelman syndrome is caused by mutations in the human Na-Cl cotransporter gene: Molecular analysis in Italian families. 11
AORTIC AND CORONARY ATHEROMATOSIS IN A WOMAN WITH SEVERE HYPERCHOLESTEROLEMIA WITHOUT LDL RECEPTOR ALTERATIONS 11
Intergenerational instability and marked anticipation in SCA-17 11
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 11
AntiHunter: searching BLAST output for EST antisense transcripts 10
Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate 10
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 10
Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation 10
Totale 1.510
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Categoria #
all - tutte 40.607
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 40.607
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20204 0 0 1 1 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
2024/2025385 337 48 0 0 0 0 0 0 0 0 0 0
Totale 2.228