IRIS
DI NATALE, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.274
EU - Europa 534
AS - Asia 316
AF - Africa 11
OC - Oceania 2
SA - Sud America 2
Totale 2.139
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Nazione #
US - Stati Uniti d'America 1.243
SG - Singapore 176
UA - Ucraina 170
CN - Cina 125
IT - Italia 87
DE - Germania 71
FI - Finlandia 62
IE - Irlanda 54
SE - Svezia 49
CA - Canada 31
GB - Regno Unito 18
NL - Olanda 15
IN - India 10
CI - Costa d'Avorio 6
EG - Egitto 5
BE - Belgio 4
BR - Brasile 2
RO - Romania 2
AU - Australia 1
ES - Italia 1
IR - Iran 1
KR - Corea 1
NZ - Nuova Zelanda 1
RU - Federazione Russa 1
SA - Arabia Saudita 1
TH - Thailandia 1
TR - Turchia 1
Totale 2.139
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Città #
Chandler 331
Jacksonville 169
Singapore 154
Millbury 77
Princeton 61
Ashburn 42
Nanjing 37
Woodbridge 36
Beijing 33
Ottawa 28
Santa Clara 26
Wilmington 25
Kronberg 24
Ann Arbor 22
Napoli 20
Boston 13
Norwalk 12
Hebei 10
Nanchang 10
Pune 10
Amsterdam 9
Dearborn 9
Houston 9
Boardman 8
Changsha 8
Tianjin 7
Falls Church 6
Rome 5
Washington 5
Augusta 4
Milan 4
Shenyang 4
Waanrode 4
Cairo 3
Dallas 3
Jiaxing 3
Kunming 3
Naples 3
Wuhan 3
Cologne 2
Des Moines 2
New York 2
Orange 2
Plainfield 2
Portici 2
Redmond 2
San Giuseppe Vesuviano 2
São Paulo 2
Tappahannock 2
Yellow Springs 2
Assiut 1
Bangkok 1
Cabiate 1
Catania 1
Cluj-Napoca 1
Craiova 1
Daegu 1
Damietta 1
Eboli 1
Frankfurt am Main 1
Guangzhou 1
Hangzhou 1
Hefei 1
Helsinki 1
Indiana 1
London 1
Madrid 1
Minneapolis 1
Montréal 1
Pittsburgh 1
Portsmouth 1
Pozzuoli 1
Progress 1
Redwood City 1
Reggio Nell'emilia 1
Riyadh 1
San Giovanni Lupatoto 1
San Mateo 1
Sandston 1
Siena 1
Titusville 1
Torino 1
Umbertide 1
Vercelli 1
Waterlooville 1
Wellington 1
Wisconsin Rapids 1
Totale 1.299
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Nome #
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 61
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 61
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations 58
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients 55
The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure 55
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 52
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 52
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 52
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 49
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 47
Characterization of five iduronate-2-sulfatase site-directed mutations 47
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 46
Echistatin inhibits pp125FAK autophosphorylation, paxillin phosphorylation and pp125FAK-paxillin interaction in fibronectin-adherent melanoma cells. 46
Molecular defects in the alfa-N-acetylglucosaminidase gene 46
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 46
Effetto dell'echistatina sulla fosforilazione di pp125FAK in cellule adese alla fibronectina 44
Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects Mucopolysaccharidosis type I phenotype in the mouse model. 44
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 43
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 43
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 43
Disintegrins as agents for dissecting integrin-mediated cell signaling 43
Detection of four novel mutations in the iduronate-2-sulfatase gene 42
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 42
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 42
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 41
Mucopolysaccharidoses: from gene defect to protein expression 41
Analisi dei meccanismi d'interazione delle disintegrine con i recettori integrinici sulla superficie delle cellule B16-BL6 e delle piastrine 40
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 40
Expression studies of Sanfilippo A mutations 39
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 38
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2 38
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 37
L'echistatina induce il “detachment” delle cellule B16-BL6 adese alla matrice extracellulare 36
Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype. 35
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 34
Activation of stress kinases in the brain of mucopolysaccharidosis IIIB mice 34
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 33
Identification of molecular alterations in Sanfilippo B patients 33
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 33
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 33
Mucopolysaccharidoses: from gene defect to protein expression 32
Interazione echistatina-integrine in cellule B16-BL6 adese alla fibronectina: organizzazione del citoscheletro ed eventi di fosforilazione 31
Limited transgene immune response and long-term expression of human alpha-L-iduronidase in young adult mice with Mucopolysaccharidosis type I by liver-directed gene therapy 30
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 30
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 28
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 28
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 27
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 25
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 25
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 24
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 23
Fabry disease associated with G6PD definciency 22
18th Workshop of European Study Group on Lysosomal Diseases (ESGLD) 21
Molecular pathology of the mucopolysaccaridoses 20
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 19
Molecular pathology of mucopolysaccaridosis IIIB 18
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 17
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 17
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 16
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 16
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 14
Totale 2.227
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Categoria #
all - tutte 9.394
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 9.394
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020111 0 0 0 0 0 0 12 0 1 18 25 55
2020/2021329 7 37 30 40 41 41 38 0 43 6 41 5
2021/2022324 4 0 0 1 1 7 0 9 63 22 62 155
2022/2023549 82 82 22 62 79 59 2 45 91 9 13 3
2023/2024253 17 46 17 10 20 40 4 33 2 0 44 20
2024/2025209 79 74 5 7 44 0 0 0 0 0 0 0
Totale 2.227