IRIS
CASARI, GIORGIO NEVIO
 Distribuzione geografica
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Continente #
EU - Europa 826
NA - Nord America 714
AS - Asia 84
OC - Oceania 1
Totale 1.625
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Nazione #
US - Stati Uniti d'America 711
SE - Svezia 555
IT - Italia 111
IE - Irlanda 50
FI - Finlandia 37
IN - India 37
CN - Cina 29
NL - Olanda 28
DE - Germania 23
GB - Regno Unito 8
FR - Francia 6
CA - Canada 3
ES - Italia 3
PK - Pakistan 3
SG - Singapore 3
VN - Vietnam 3
HK - Hong Kong 2
IR - Iran 2
JP - Giappone 2
RU - Federazione Russa 2
TW - Taiwan 2
UA - Ucraina 2
AU - Australia 1
CZ - Repubblica Ceca 1
TR - Turchia 1
Totale 1.625
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Città #
Lawrence 194
Princeton 194
Ashburn 150
Dublin 50
Milan 46
Helsinki 37
Pune 37
Shanghai 27
New York 18
Dronten 10
Seattle 10
Rome 9
Meppel 6
Washington 5
Hanover 4
Naaldwijk 4
Ancona 3
Kohat 3
Mountain View 3
Nam Định 3
Taranto 3
Arosio 2
Henderson 2
Hong Kong 2
Montauro 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
Bergamo 1
Bracke 1
Brugherio 1
Cantù 1
Castelmoron-sur-Lot 1
Chiaravalle 1
Genoa 1
Hangzhou 1
Karatsu 1
London 1
Meieki 1
Monza 1
Nanjing 1
Oleggio 1
Omaha 1
Pescara 1
Piossasco 1
Pontedera 1
Redwood City 1
Rovato 1
Sevilla 1
Spinea 1
St. George 1
Torre Annunziata 1
Totale 865
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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 31
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 25
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 25
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 21
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 21
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 20
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 20
A TRAPPC6B splicing variant associates to restless legs syndrome 18
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 17
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 17
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 17
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 17
Brugada syndrome genetics is associated with phenotype severity 17
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 16
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 16
Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy 15
A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2 15
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 15
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 15
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 14
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 14
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 14
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 14
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 14
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 14
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 14
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 14
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 14
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 14
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 13
GENETICS OF RENAL DAMAGE IN PRIMARY HYPERTENSION 13
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 13
The mitochondrial protease AFG3L2 is essential for axonal development 13
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis 13
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 13
Aldosterone influences serum magnesium in Gitelman syndrome 12
Identification and characterization of YME1L1, a novel paraplegin-related gene 12
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 12
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 12
SNP Prioritization Using a Bayesian Probability of Association 12
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 12
Guidelines for the use and interpretation of assays for monitoring autophagy 12
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 12
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 12
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 12
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 12
The Tightly Regulated and Compartmentalised Import,Sorting and Folding of Mitochondrial Proteins 11
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3 11
A novel truncated form of eNOS associates with altered vascular function 11
Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 11
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. 11
A large southern Italian family with autosomal dominant dementia and extrapyramidal features not linked to chromosome 17 11
Uromodulin storage diseases: Clinical aspects and mechanisms 11
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 11
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 11
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 11
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 11
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 11
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias 10
Identification and characterization of AFG3L2, a novel paraplegin-related gene 10
Further evidence of genetic heterogeneity in familial essential tremor 10
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 10
Molecular basis of inherited spastic paraplegias 10
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population 10
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 10
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3 10
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 10
A recessive variant of the Romano-Ward Long-QT syndrome? 10
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 10
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2 10
Linkage of alpha-adducin polymorphism to human essential hypertension 10
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 10
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 10
Genetic studies of body mass index yield new insights for obesity biology 10
GENOMIC APPROACH FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 9
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 9
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 9
Genetic heterogeneity in Malattia Leventinese (vol 62, pg 399, 2002) 9
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 9
What Makes Y Family Pols Potential Candidates for Molecular Targeted Therapies and Novel Biotechnological Applications 9
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 9
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 9
Gitelman syndrome is caused by mutations in the human Na-Cl cotransporter gene: Molecular analysis in Italian families. 9
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 9
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 9
Related polypeptides are encoded by Drosophila F elements, I factors, and mammalian L1 sequences 9
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 9
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 9
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 9
NOVEL RAT CALPASTATIN MESSENGER-RNA VARIANTS 8
AntiHunter: searching BLAST output for EST antisense transcripts 8
Genetic analysis of the S-A and Na+/K+-ATPase alpha(1) genes in the Milan hypertensive rat 8
Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate 8
Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly 8
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 8
Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation 8
AORTIC AND CORONARY ATHEROMATOSIS IN A WOMAN WITH SEVERE HYPERCHOLESTEROLEMIA WITHOUT LDL RECEPTOR ALTERATIONS 8
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome 8
Intergenerational instability and marked anticipation in SCA-17 8
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease 8
Totale 1.223
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Categoria #
all - tutte 30.298
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 30.298
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202010 6 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
2023/2024442 12 21 76 39 80 146 16 46 3 3 0 0
Totale 1.700