IRIS
CARSANA, ANTONELLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.614
EU - Europa 1.330
AS - Asia 264
AF - Africa 28
OC - Oceania 4
Continente sconosciuto - Info sul continente non disponibili 2
Totale 3.242
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Nazione #
US - Stati Uniti d'America 1.587
IT - Italia 649
UA - Ucraina 243
CN - Cina 236
FI - Finlandia 103
NL - Olanda 89
IE - Irlanda 77
DE - Germania 54
GB - Regno Unito 36
FR - Francia 34
CI - Costa d'Avorio 28
CA - Canada 27
SE - Svezia 25
VN - Vietnam 8
BE - Belgio 4
ES - Italia 4
IN - India 4
RO - Romania 4
SG - Singapore 4
AU - Australia 2
DK - Danimarca 2
EU - Europa 2
IR - Iran 2
JP - Giappone 2
NZ - Nuova Zelanda 2
PK - Pakistan 2
SA - Arabia Saudita 2
SM - San Marino 2
TR - Turchia 2
AL - Albania 1
AZ - Azerbaigian 1
CH - Svizzera 1
KR - Corea 1
PL - Polonia 1
RS - Serbia 1
Totale 3.242
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Città #
Chandler 316
Jacksonville 186
Princeton 103
Ashburn 95
Boston 90
Amsterdam 87
Nanjing 77
Millbury 74
Napoli 56
Wilmington 49
Naples 40
Rome 33
Nanchang 32
Shenyang 29
Beijing 26
Ottawa 26
Hebei 21
Ann Arbor 20
Boardman 20
Jiaxing 17
Des Moines 14
Milan 14
Norwalk 13
Palermo 13
Woodbridge 13
Cagliari 12
Seattle 11
Falls Church 10
Kunming 10
Los Angeles 10
Padova 10
Washington 10
Augusta 9
Dong Ket 8
Kronberg 8
Redwood City 7
Tianjin 7
Changsha 6
Caserta 5
Houston 5
Orange 5
Parabiago 5
Paris 5
San Mateo 5
Taranto 5
Bari 4
Bitonto 4
Capua 4
Casalecchio di Reno 4
Fairfield 4
Fremont 4
Hangzhou 4
Lawrence 4
Sacramento 4
San Giorgio A Cremano 4
Andover 3
Arezzo 3
Bolano 3
Bolzaneto 3
Cantù 3
Casoria 3
Ferrara 3
Florence 3
Genoa 3
Leawood 3
Marina di Gioiosa Ionica 3
Monza 3
Pioltello 3
Sarno 3
Torchiara 3
Torino 3
Turin 3
Afragola 2
Anguillara 2
Bellizzi 2
Bologna 2
Canelli 2
Casaleone 2
Casamassima 2
Castel San Niccolò 2
Catania 2
Catanzaro 2
Chieti 2
Civitella Del Tronto 2
Dearborn 2
Ercolano 2
Favaro Veneto 2
Felino 2
Ferrara di Monte Baldo 2
Frigento 2
Genova 2
Giugliano In Campania 2
Helsinki 2
Jeddah 2
Mataró 2
Melito Irpino 2
Mountain View 2
Muro Lucano 2
New York 2
Ningbo 2
Totale 1.764
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Nome #
Influenza delle triplette CGG del gene FRMR1 premutate, intermedie o non interrotte in sindromi neurologiche (atrofia multisistemica cerebellare o MSA-C e atassia cerebellare ad esordio tardivo o ILOCA). 340
Biochimica del pancreas 144
LA BIOCHIMICA-CLINICA APPLICATA ALL’ESERCIZIO FISICO E SPORTIVO 116
Caratterizzazione funzionale di mutazioni in geni associati all'ipertermia maligna e al central core disease e identificazione di loci alternativi per l'ipertermia maligna 110
Biochimica generale 54
BIOCHIMICA con aspetti clinici 49
RYR1-Related Myopathies and Anesthesiological Implications. 48
Characterization of deletion breakpoints within intron 50 and 51 of the dystrophin gene 46
Sequence variants of the RYR1 gene in a patient with Central Core Disease. 44
Mutations in the RYR1 gene and their functional characterization in immortalized lymphocytes by detection of proton release rate. 44
A 15-year molecular analysis of Duchenne/Becker muscular dystrophy: genetic features in a large cohort 43
Effects of dansylation on the monomer of seminal ribonuclease 41
Direct detection of exon deletions/duplications in female carriers of and male patients with Duchenne/Becker muscular dystrophy. 41
Analysis of dystrophin gene deletions correlates the hinge III region of the protein with the disease severity. Ann. Hum Genet. 69: 253-9. 41
Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity 41
Correlation between phenotype and CTG repeats in myotonic dystrophy patients from southern Italy. 41
Biochimica del tessuto muscolare scheletrico e tessuto muscolare liscio 41
RYR1 sequence variants in myopathies: expression and functional studies in two families 41
A case of discordance between genotype and phenotype in a malignant hyperthermia family. 40
A pancreatic-like ribonuclease is synthesized in rat brain. 39
A larger spectrum of intragenic STRs improves linkage analysis and localization of intragenic recombination detection in the dystrophin gene: an analysis of 93 families from Southern Italy. J. Mol. Diagn. 39
Analysis of macrodeletions in the dystrophin gene in patients from southern Italy and correlation between genotype and phenotype. The presence/absence of the III hinge region of the dystrophin protein affects the phenotype. 39
Heterogeneity of malignant hyperthermia: a study in families from the south of Italy. 37
Il contributo della genetica nella diagnosi in ipertermia maligna. 36
Genetica ed epigenetica applicate all'esercizio fisico e allo sport. Capitolo 13 36
Unraveling unusual X-chromosome patterns during fragile-X syndrome genetic testing 36
Novel mutations in the ryanodine receptor gene (RYR1) identified in malignant hyperthermia susceptible subjects. 34
Biochimica del muscolo cardiaco 34
Identification and functional characterization of the malignant hyperthermia mutation T1354S in the α1S subunit of the skeletal muscle voltage-gated calcium channel. 33
Functional characterization of novel RYR1 mutations using a metabolic assay of B-lymphocytes. 32
The CEINGE Biobank of biological samples: storage and management 31
Screening fmr1 gene in patients with sporadic ataxia 29
Metabolic Alterations in Cardiomyocytes of Patients with Duchenne and Becker Muscular Dystrophies 29
A GENOMIC CLONE CONTAINING SEQUENCES CODING FOR BOVINE SEMINAL RIBONUCLEASE - PRELIMINARY CHARACTERIZATION 28
Genes coding for pancreatic-type ribonucleases 27
Genetic linkage analysis in Italian malignant hyperthermia families. 27
A 15-year case-mix experience for fragile X syndrome molecular diagnosis and comparison between conventional and alternative techniques leading to a novel diagnostic procedure. 27
Molecular evolution of the ribonuclease superfamily 26
Functional characterization of novel RYR1 mutations in B-lymphocytes using a metabolic assay 26
Identification of new polymorphisms in the CACNA1S gene. 25
Sequences related to the ox pancreatic ribonuclease coding region in the genomic DNA of mammalian species. 25
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes 25
[DNA-protein interactions. Destabilizing activity of sheep pancreatic RNAase]. 25
Metabolic overreaction in response to 4-chloro-m-cresol in immortalized B-lymphocytes from malignant hyperthermia susceptible individuals with a novel RYR1 mutation. 25
Genes coding for pancreatic-type ribonucleases. 25
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene 25
Sequence analysis of a cloned cDNA coding for bovine seminal ribonuclease. 24
Genetic heterogeneity of malignant hyperthermia in Italian families. 24
Lithostatin mRNA (LS mRNA) expression does not differ in different types of chronic pancreatitis (CP) 24
Sequences of the bovine pancreatic ribonuclease gene which specifically interact with DNA binding proteins. 24
The differential pattern of tissue-specific expression of ruminant pancreatic type ribonucleases may help to understand the evolutionary history of their genes. 23
Protein-DNA interactions in the 5'-flanking region of the bovine pancreatic ribonuclease gene. 23
Pancreatic-type ribonuclease 1 gene duplications in rat species. 23
Expression of opioid genes in bovine seminal vescicles. 23
Thomas M. Devlin Biochimica con Aspetti Clinici (2 volumi). 23
Malignant hyperthermia in Italian families. 23
Exertional rhabdomyolysis, RYR1 gene sequence variations and association with malignant hyperthermia susceptibility 23
Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia family. 22
Lithostathine messenger RNA expression in different types of chronic pancreatitis. 22
Influence of protein net charge on the nucleic acid helix-destabilizing activity of various pancreatic ribonucleases 22
Recent advances in the diagnosis of malignant hyperthermia susceptibility: How confident can we be of genetic testing? 22
IDENTIFICAZIONE E CARATTERIZZAZIONE FUNZIONALE DI MUTAZIONI DEL GENE RYR1 ASSOCIATE ALL’IPERTERMIA MALIGNA 22
Pattern of dystrophin gene macrodeletions in Duchenne and Becker muscular dystrophy patients form southern Italy. 22
Genetica ed epigenetica applicate all’esercizio fisico e allo sport. Capitolo 13 22
Structure of the bovine pancreatic ribonuclease gene: the unique intervening sequence in the 5' untranslated region contains a promoter-like element. 21
Molecular evolution of pancreatic-type ribonucleases. 21
Malignant hyperthermia: from prevention to diagnosis 21
Ionic control of enzymic degradation of double-stranded RNA 21
NF-kB, NFIL6 and NFIL6beta are not sufficient to activate the endogenous interleukin-6 gene in the human breast carcinoma cell line MCF-7: comparative analysis with the MDA-MB-231 cells. 21
Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cav alpha1S-subunit 21
The importance of assay conditions in searching for enzymes active on double-stranded RNA. 21
Several interacting genes influence the malignant hyperthermia phenotype. 20
Molecular evolution of genes encoding ribonucleases in ruminant species. 20
Proteins with preferential affinity for single-stranded DNA in tissues of Octopus Vulgaris Lam. 20
Nucleic acid-protein interactions. Degradation of double-stranded RNA by glycosylated ribonucleases 20
Rapid detection of short tandem repeat (STRs) alleles for linkage analysis and for localization of intragenic recombination in the dystrophin gene. 20
IDENTIFICATION OF AN OPEN READING FRAME CODING FOR A PANCREATIC TYPE RIBONUCLEASE IN THE OX GENOME 20
RIBONUCLEASE GENES ORGANIZATION IN THE OX 20
Molecular cloning of the gene encoding the bovine brain ribonuclease and its expression in different regions of the brain. 19
Evolution of vertebrate ribonucleases. 19
Studies on the expression of the bovine pancreatic RNAase A 19
Enzymic degradation of double-stranded RNA. 19
The potential role of multiple loci in predisposition to MH susceptibility. 19
Structural Similarity of 2 Bovine Rnase Genes 19
Studi sulla regolazione dell'espressione del gene dell'interleuchina 6 in linee cellulari umane. 19
In vitro synthesis of pig pancreas ribonuclease 18
Double-stranded RNA. 18
SEQUENCE VARIANTS IN THE RYR1 GENE AND GENETIC DISEASES: MALIGNANT HYPERTHERMIA ANDCONGENITAL MYOPATHIES 18
Expression of pancreatic ribonuclease in rat brain. 18
Sequence variants of the RYR1 gene in a patient with Central Core Disease 17
Expression of a pancreatic-like ribonuclease in rat brain. 16
Espressione del gene della ribonucleasi pancreatica nel cervello e in altri organi di ratto. 16
Genetica e ipertermia maligna 16
Expression of the gene encoding the bovine brain ribonuclease. 15
Influence of physical activity on structure and function of the RyR1 calcium channel: A systematic review 15
Hypermetabolism in B–lymphocytes from malignant hyperthermia susceptible individuals 14
Linkage analysis of the ryanodine receptor (RYR1) gene in Italian malignant hyperthermia families. 13
Structure and expression of the bovine brain ribonuclease gene. 13
Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy 13
[Ribonuclease of buffalo seminal vesicles]. 12
Totale 3.248
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Categoria #
all - tutte 11.355
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 11.355
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201917 0 0 0 0 0 0 0 0 0 0 8 9
2019/2020411 149 7 37 9 43 9 18 5 4 20 38 72
2020/2021539 6 59 54 55 65 72 52 13 53 22 65 23
2021/2022585 22 4 9 14 6 13 9 25 91 27 134 231
2022/2023825 121 57 18 86 102 95 13 72 101 96 51 13
2023/2024451 33 73 61 50 40 72 19 77 4 18 4 0
Totale 3.323