CASARI, GIORGIO NEVIO
 Distribuzione geografica
Continente #
EU - Europa 790
NA - Nord America 408
AS - Asia 8
OC - Oceania 1
Totale 1207
Nazione #
SE - Svezia 554
US - Stati Uniti d'America 405
IT - Italia 87
IE - Irlanda 55
FI - Finlandia 29
NL - Olanda 28
DE - Germania 17
GB - Regno Unito 8
FR - Francia 4
CA - Canada 3
ES - Italia 3
VN - Vietnam 3
IR - Iran 2
RU - Federazione Russa 2
UA - Ucraina 2
AU - Australia 1
CN - Cina 1
CZ - Repubblica Ceca 1
JP - Giappone 1
TR - Turchia 1
Totale 1207
Città #
Lawrence 194
Princeton 194
Dublin 55
Milan 39
Helsinki 29
Dronten 10
Rome 7
Meppel 6
Hanover 4
Naaldwijk 4
Ancona 3
Nam Định 3
Taranto 3
Henderson 2
Montauro 2
Mountain View 2
Padova 2
Pistoia 2
Seelze 2
Toronto 2
Wilmington 2
Andover 1
Angri 1
Barcelona 1
Bergamo 1
Bracke 1
Brugherio 1
Cantù 1
Chiaravalle 1
Genoa 1
London 1
Meieki 1
Monza 1
Nanjing 1
New York 1
Oleggio 1
Omaha 1
Piossasco 1
Redwood City 1
Rovato 1
Sevilla 1
Spinea 1
Torre Annunziata 1
Totale 589
Nome #
Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family 30
The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies 24
Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity 22
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes 16
Novel scn5a p.Val1667asp missense variant segregation and characterization in a family with severe brugada syndrome and multiple sudden deaths 14
Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction 13
A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection 13
Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families 12
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment 12
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood 11
Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model 11
SNP Prioritization Using a Bayesian Probability of Association 11
Guidelines for the use and interpretation of assays for monitoring autophagy 11
m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics 11
Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation 11
Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia 11
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 11
Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation 10
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2 10
Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice 10
Amino acid starvation induces reactivation of silenced transgenes and latent HIV-1 provirus via down-regulation of histone deacetylase 4 (HDAC4) 10
A TRAPPC6B splicing variant associates to restless legs syndrome 10
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis 10
Upregulation of Peroxiredoxin 3 Protects Afg3l 2-KO Cortical Neurons In Vitro from Oxidative Stress: A Paradigm for Neuronal Cell Survival under Neurodegenerative Conditions 10
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model 10
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 10
Immunosuppressive therapy in childhood‐onset arrhythmogenic inflammatory cardiomyopathy 10
Genetic studies of body mass index yield new insights for obesity biology 10
A large family with idiopathic basal ganglia calcifications not linked to chromosome 14q 9
Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population 9
GENETICS OF RENAL DAMAGE IN PRIMARY HYPERTENSION 9
TRANSCRIPTION EFFICIENCY OF HUMAN APOLIPOPROTEIN-A-I PROMOTER VARIES WITH NATURALLY-OCCURRING A-TO-G TRANSITION 9
Identification and characterization of YME1L1, a novel paraplegin-related gene 9
Growth deficiency in children with clinical and molecular diagnosis of Bartter and Gitelman Syndromes 9
Mitochondria and melanosomes establish physical contacts modulated by Mfn2 and involved in organelle biogenesis 9
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways 9
Importance of Different Types of Prior Knowledge in Selecting Genome-Wide Findings for Follow-Up 9
2 POINT MUTATIONS WITHIN THE ADDUCIN GENES ARE INVOLVED IN BLOOD-PRESSURE VARIATION 9
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2 9
Linkage of alpha-adducin polymorphism to human essential hypertension 9
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants 9
Brugada syndrome genetics is associated with phenotype severity 9
A reduced activity of the Na-K ATPase is responsible for familial hemiplegic migraine 9
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19 9
Characterisation and chromosomal localisation of the rat alpha- and beta-adducin-encoding genes 8
The Tightly Regulated and Compartmentalised Import,Sorting and Folding of Mitochondrial Proteins 8
AntiHunter: searching BLAST output for EST antisense transcripts 8
Further evidence of genetic heterogeneity in familial essential tremor 8
Cancer risk among the relatives of patients with pancreatic ductal adenocarcinoma 8
Towards the identification of (a) gene(s) for autosomal dominant medullary cystic kidney disease 8
Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 8
Related polypeptides are encoded by Drosophila F elements, I factors, and mammalian L1 sequences 8
Uromodulin storage diseases: Clinical aspects and mechanisms 8
The mitochondrial protease AFG3L2 is essential for axonal development 8
A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood 8
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 8
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms 8
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome 8
Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths 8
A NOVEL BIPARTITE SPLICING ENHANCER MODULATES THE DIFFERENTIAL PROCESSING OF THE HUMAN FIBRONECTIN EDA EXON 7
Alternative splicing of NHE-1 mediates Na-Li countertransport and associates with activity rate 7
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12 7
Gitelman syndrome is caused by mutations in the human Na-Cl cotransporter gene: Molecular analysis in Italian families. 7
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis 7
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome 7
A thiazide test for the diagnosis of renal tubular hypokalemic disorders 7
Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics 7
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease 7
Alpha2-I279N human nicotinic acetylcholine receptors, linked to a form of nocturnal epilepsy, present higher sensitivity to agonists 7
Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease 7
Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear 7
Behavioural disorder, dementia, ataxia and Huntington-like symptoms in a large family with TATA box-Binding Protein mutation. 7
Glucocorticoid receptor mutations in genetically hypertensive rats: Markers of glucocorticoid insensitivity? 7
VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database 7
Novel scn5a p.V1429m variant segregation in a family with brugada syndrome 7
Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear 7
HUMAN TENASCIN - PRIMARY STRUCTURE, PRE-MESSENGER-RNA SPLICING PATTERNS AND LOCALIZATION OF THE EPITOPES RECOGNIZED BY 2 MONOCLONAL-ANTIBODIES 7
Human genetic and immunological determinants of critical COVID-19 pneumonia 7
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England 6
Identification and characterization of AFG3L2, a novel paraplegin-related gene 6
NOVEL RAT CALPASTATIN MESSENGER-RNA VARIANTS 6
Genetic heterogeneity in Malattia Leventinese (vol 62, pg 399, 2002) 6
Aldosterone influences serum magnesium in Gitelman syndrome 6
Clinical and genetic study of a new large Italian family with autosomal dominant nocturnal frontal lobe epilepsy 6
What Makes Y Family Pols Potential Candidates for Molecular Targeted Therapies and Novel Biotechnological Applications 6
Antisense transcription at the TRPM2 locus as a novel prognostic marker and therapeutic target in prostate cancer 6
A novel truncated form of eNOS associates with altered vascular function 6
Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport 6
Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation 6
Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3) 6
AORTIC AND CORONARY ATHEROMATOSIS IN A WOMAN WITH SEVERE HYPERCHOLESTEROLEMIA WITHOUT LDL RECEPTOR ALTERATIONS 6
Locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28 6
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 6
A GENOMIC APPROACH TO IDENTIFY NEW GENES RESPONSIBLE FOR INHERITED MOTOR AND CMT2 NEUROPATHIES: A COLLABORATIVE STUDY 6
Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy 6
Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration 6
TISSUE-SPECIFIC SPLICING PATTERN OF FIBRONECTIN MESSENGER-RNA PRECURSOR DURING DEVELOPMENT AND AGING IN RAT 6
In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria. 6
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy 6
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions 6
Totale 883
Categoria #
all - tutte 14521
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 14521


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/20182 0000 00 00 0002
2018/20195 0000 00 01 4000
2019/202010 6011 00 10 0100
2020/202115 0110 110 10 1000
2021/2022111 00149 311 195 5369
2022/20231080 434233986 3110 7260 439120
Totale 1257