IRIS
DI NATALE, PAOLA
 Distribuzione geografica
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Continente #
NA - Nord America 1.201
EU - Europa 513
AS - Asia 137
AF - Africa 11
OC - Oceania 2
SA - Sud America 2
Totale 1.866
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Nazione #
US - Stati Uniti d'America 1.170
UA - Ucraina 170
CN - Cina 122
DE - Germania 70
IT - Italia 70
FI - Finlandia 61
IE - Irlanda 54
SE - Svezia 49
CA - Canada 31
GB - Regno Unito 18
NL - Olanda 14
IN - India 10
CI - Costa d'Avorio 6
EG - Egitto 5
BE - Belgio 4
BR - Brasile 2
RO - Romania 2
AU - Australia 1
IR - Iran 1
NZ - Nuova Zelanda 1
RU - Federazione Russa 1
SA - Arabia Saudita 1
SG - Singapore 1
TH - Thailandia 1
TR - Turchia 1
Totale 1.866
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Città #
Chandler 331
Jacksonville 169
Millbury 77
Princeton 61
Ashburn 42
Nanjing 37
Woodbridge 36
Beijing 33
Ottawa 28
Wilmington 25
Kronberg 24
Ann Arbor 22
Napoli 20
Boston 13
Norwalk 12
Hebei 10
Nanchang 10
Pune 10
Dearborn 9
Houston 9
Amsterdam 8
Boardman 8
Changsha 8
Tianjin 7
Falls Church 6
Rome 5
Washington 5
Augusta 4
Shenyang 4
Waanrode 4
Cairo 3
Jiaxing 3
Kunming 3
Naples 3
Wuhan 3
Cologne 2
Des Moines 2
Milan 2
New York 2
Orange 2
Plainfield 2
Portici 2
Redmond 2
São Paulo 2
Tappahannock 2
Yellow Springs 2
Assiut 1
Bangkok 1
Catania 1
Cluj-Napoca 1
Craiova 1
Damietta 1
Eboli 1
Guangzhou 1
Hangzhou 1
Hefei 1
Indiana 1
London 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
Siena 1
Titusville 1
Torino 1
Umbertide 1
Vercelli 1
Waterlooville 1
Wellington 1
Wisconsin Rapids 1
Totale 1.105
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Nome #
Gene symbol: SGSH. Disease: Sanfilippo type A syndrome, mucopolysaccharidosis IIIA. 55
Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations 53
A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency 53
Lentiviral vectors-mediated gene therapy for mucopolysaccharidosis type IIIB 48
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene 48
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients 47
Trasferimento mediato da lentivirus del cDNA umano per l'enzima NAGLU in fibroblasti di pazienti con mucopolisaccaridosi IIIB 47
Treatment of mucopolysaccharidosis type I by lentiviral vector transducing the human alfa-L-iduronidase gene 47
The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure 47
Characterization of five iduronate-2-sulfatase site-directed mutations 45
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector 45
Molecular defects in the alfa-N-acetylglucosaminidase gene 43
Lentiviral vector-mediated gene therapy for Sanfilippo B syndrome (MPS IIIB) 42
Echistatin inhibits pp125FAK autophosphorylation, paxillin phosphorylation and pp125FAK-paxillin interaction in fibronectin-adherent melanoma cells. 42
Detection of four novel mutations in the iduronate-2-sulfatase gene 42
Mucopolysaccharidoses types I and IIIB: gene therapy by lentiviral vectors 42
Disintegrins as agents for dissecting integrin-mediated cell signaling 41
Heparin sulfamidase S66W allele: the first early prenatal diagnosis of Sanfilippo type A syndrome 40
Mucopolysaccharidoses: from gene defect to protein expression 40
Identificazione e caratterizzazione di mutazioni sul gene per l'alfa-N-acetilglucosaminidasi 40
Gene therapy for mucopolysaccharidosis type I and type IIIB by lentiviral vectors 40
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 39
Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects Mucopolysaccharidosis type I phenotype in the mouse model. 39
Echistatin inhibits adhesion of murine melanoma cells to extracellular matrix components. 37
Vettori lentivirali come strumenti per la terapia genica delle mucopolisaccaridosi I e IIIB 37
Effetto dell'echistatina sulla fosforilazione di pp125FAK in cellule adese alla fibronectina 37
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2 36
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. 36
Gene therapy of Sanfilippo type B syndrome using a lentiviral vector 35
Analisi dei meccanismi d'interazione delle disintegrine con i recettori integrinici sulla superficie delle cellule B16-BL6 e delle piastrine 34
Expression studies of Sanfilippo A mutations 33
Mucopolisaccaridosi IIIA: espressione in vitro di 15 difetti molecolari 33
Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype. 33
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 32
Identification of molecular alterations in Sanfilippo B patients 31
L'echistatina induce il “detachment” delle cellule B16-BL6 adese alla matrice extracellulare 31
Molecular markers for the follow-up of enzyme replacement therapy in mucopolysaccharidosis VI disease. 29
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector 29
Large deletion involving exon 5 of the ARSB gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient 29
Mucopolysaccharidoses: from gene defect to protein expression 27
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 26
“Analisi delle mutazioni nel gene dell'iduronato-2-solfatasi in pazienti Hunter” 26
Activation of stress kinases in the brain of mucopolysaccharidosis IIIB mice 26
Two novel mutations of the arylsulfatase B gene in two Italian patients with the severe form of mucopolysaccharidosis VI 23
L'echistatina inibisce l'adesione di cellule di melanoma murino B16-BL6 ai componenti della matrice extracellulare 22
Interazione echistatina-integrine in cellule B16-BL6 adese alla fibronectina: organizzazione del citoscheletro ed eventi di fosforilazione 20
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome). 20
Coexistence of mutations R315X and g.99367-102002del both involving the exon 5 of ARSB gene caused a misdiagnosis for a MPS VI patient. 19
Gene symbol: IDS. Disease: mucopolysaccharidosis type II (Hunter syndrome) 19
Oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis of mucopolysaccharidosis IIIB 18
Fabry disease associated with G6PD definciency 18
Unfolded Protein Response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated 18
18th Workshop of European Study Group on Lysosomal Diseases (ESGLD) 17
Molecular pathology of the mucopolysaccaridoses 15
In vivo gene transfer for mucopolysaccharidosis type I and type IIIB animal models 13
Molecular pathology of mucopolysaccaridosis IIIB 13
Intracranial injections of lentiviral-NAGLU vector in MPS IIIB mice: effect of treatment on cytokines, neurotrophins and oxidative stress 13
Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB. 13
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. 12
A novel splicing mutation in a MPS II (Hunter syndrome) patient. 10
MPS VI disease: evaluation of molecular markers for the follow-up of enzyme replacement therapy 9
Totale 1.954
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Categoria #
all - tutte 6.889
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 6.889
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20193 0 0 0 0 0 0 0 0 0 3 0 0
2019/2020250 64 1 37 1 36 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
2023/2024189 17 46 17 10 20 40 4 33 2 0 0 0
Totale 1.954