IRIS PubliCatt

Missaglia, Sara
 Distribuzione geografica
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Continente #
NA - Nord America 1.997
EU - Europa 1.854
AS - Asia 644
SA - Sud America 44
OC - Oceania 30
AF - Africa 11
Totale 4.580
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Nazione #
US - Stati Uniti d'America 1.982
DE - Germania 434
IT - Italia 344
SE - Svezia 286
CN - Cina 223
SG - Singapore 178
PL - Polonia 165
UA - Ucraina 137
GB - Regno Unito 129
IE - Irlanda 94
FR - Francia 87
ID - Indonesia 56
FI - Finlandia 53
IN - India 52
RU - Federazione Russa 35
TR - Turchia 33
IR - Iran 32
AU - Australia 30
BR - Brasile 24
HK - Hong Kong 16
BE - Belgio 15
NL - Olanda 15
AT - Austria 13
CO - Colombia 12
ES - Italia 11
KR - Corea 11
VN - Vietnam 10
JP - Giappone 9
MX - Messico 8
SK - Slovacchia (Repubblica Slovacca) 8
CA - Canada 7
TN - Tunisia 7
PK - Pakistan 6
RO - Romania 6
BA - Bosnia-Erzegovina 4
NO - Norvegia 4
BD - Bangladesh 3
CZ - Repubblica Ceca 3
TW - Taiwan 3
BN - Brunei Darussalam 2
CH - Svizzera 2
CL - Cile 2
EC - Ecuador 2
EE - Estonia 2
SA - Arabia Saudita 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AR - Argentina 1
CI - Costa d'Avorio 1
DZ - Algeria 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
JO - Giordania 1
LT - Lituania 1
LV - Lettonia 1
MA - Marocco 1
ME - Montenegro 1
MO - Macao, regione amministrativa speciale della Cina 1
PE - Perù 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
SC - Seychelles 1
SI - Slovenia 1
TH - Thailandia 1
UZ - Uzbekistan 1
Totale 4.580
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Città #
Chandler 355
Ashburn 236
Warsaw 161
Singapore 120
New York 114
Fairfield 109
Dublin 92
Milan 83
Jacksonville 82
Woodbridge 76
Wilmington 70
San Mateo 68
Cattolica 59
Jakarta 55
Norwalk 54
Ann Arbor 51
Marseille 49
Houston 47
Seattle 44
Beijing 41
Cambridge 37
Redmond 37
Busto Arsizio 32
Munich 32
Boston 26
Nanjing 26
Dearborn 25
Moscow 25
Nürnberg 25
Lawrence 24
Helsinki 21
Princeton 20
Izmir 19
San Diego 19
Gloucester 16
Guangzhou 16
Brussels 15
Cardano 15
Los Angeles 14
Pune 14
Chicago 13
London 13
Bogotá 12
Lancaster 12
Redwood City 12
Rome 12
Brisbane 11
Hangzhou 11
Hong Kong 11
Nanchang 9
Bratislava 8
Hebei 8
Sydney 8
São Paulo 8
Tianjin 8
University Park 8
Amsterdam 7
Boardman 7
Dong Ket 7
Kunming 7
Shenyang 7
Tehran 7
Ankara 6
Barcelona 6
Bremen 6
Brescia 6
Changsha 6
Fremont 6
Mountain View 6
Vienna 6
Yongin-si 6
Buffalo 5
Jiaxing 5
Kish 5
Nuremberg 5
Seoul 5
Washington 5
Bologna 4
Edinburgh 4
Falls Church 4
Fremantle 4
Gilgit 4
Prineville 4
San Francisco 4
Sarajevo 4
Shanghai 4
Shenzhen 4
Tabriz 4
Copertino 3
Falkenstein 3
Frankfurt am Main 3
Genova 3
Glasgow 3
Hefei 3
Hounslow 3
Istanbul 3
Jinan 3
Lanzhou 3
Mexico 3
Oslo 3
Totale 2.794
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Nome #
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents 209
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients 201
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter 183
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function 145
Acute aerobic exercise and Irisin serum levels in young and middle-aged adults 136
Generating disease-specific induced pluripotent Stem Cells (iPSCs) in a Biobank facility for genetic disease modelling: the example of Neutral Lipid Storage Disease with Myopathy 135
5-HTTLPR polymorphism is associated to differences in behavioral response and HPA reactivity to a social stressor in 4-month-old infants 134
A late-onset case of neutral lipid storage disease with myopathy, dropped head syndrome, and peripheral nerve involvement 132
Producing hiPS cells for disease modeling of NLSD-M 132
Neutral lipid storage diseases as cellular model to study lipid droplet function 131
Exploring the positive involvement of primary motor cortex in observing motor sequences with music: a pilot study with tDCS 117
Social stress regulation in 4-month-old infants: Contribution of maternal social engagement and infants' 5-HTTLPR genotype 111
A myopathy with unusual features caused by PNPLA2 gene mutations 111
Brain-Derived Neurotrophic Factor Production in Response to Strenuous Incremental Exercise across adulthood 102
Neutral Lipid Storage Disease with Myopathy: disease modeling using patients’ hiPSc 102
Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation 102
PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER 100
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene 100
Further evidence supporting the association between 5HTR2C gene and bipolar disorder 94
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 94
Serotoninergic and dopaminergic genes in bipolar disorder and response to treatments in bipolar depression. Investigation on a well-characterized naturalistic sample 93
βeta-endorphin levels following acute physical exercise in young and middle-aged adults 92
Chanarin-Dorfman syndrome: a case report with novel mutation in ABHD5 gene 92
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function 91
Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance 90
The BDNFval66met polymorphism and individual differences in temperament in 4-month-old infants: A pilot study 87
Late onset and heterogeneous clinical presentation in three affected members of a NLSDM Italian family 82
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings 82
Novel mutations in the PNPLA2 gene causing late one-set of neutral lipid storage disease with myopathy in an Italian family 78
Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation 73
COMTval158met polymorphism is associated with behavioral response and physiologic reactivity to socio-emotional stress in 4-month-old infants 70
ETF dehydrogenase advances in molecular genetics and impact on treatment 70
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement 69
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy 69
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome 66
Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms 64
Familial distal myopathy due to PNPLA2 mutation 63
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients 63
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy 62
Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients 59
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity 57
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 55
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM 54
Salivary and serum irisin in healthy adults before and after exercise 52
Neutral lipid storage disease with myopathy: A 10-year follow-up case report 50
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency 50
CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition 50
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings 44
Metabolic lipid muscle disorders: biomarkers and treatment 42
The time course of irisin release after an acute exercise: relevant implications for health and future experimental designs 33
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype 25
Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M(NLSD-M) Patients 25
Effects of Exhaustive Exercise on Adiponectin and High-Molecular-Weight Oligomer Levels in Male Amateur Athletes 22
Early Adipogenesis and Upregulation of UCP1 in Mesenchymal Stromal Cells Stimulated by Devitalized Microfragmented Fat (MiFAT) 17
New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings 17
Salivary irisin is induced by strenuous exercise stimulus and correlates with circulating irisin 6
Totale 4.685
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Categoria #
all - tutte 20.872
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 20.872
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020262 0 0 0 0 0 0 0 0 72 41 88 61
2020/2021522 16 72 11 63 84 50 26 13 75 25 47 40
2021/2022466 37 42 4 33 46 17 8 66 37 42 51 83
2022/20231.000 113 139 77 135 59 129 58 83 119 45 31 12
2023/2024690 35 133 17 27 31 141 50 40 15 53 51 97
2024/2025570 44 61 92 68 78 59 58 53 57 0 0 0
Totale 4.685