IRIS UniCatt

Missaglia, Sara
 Distribuzione geografica
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Continente #
NA - Nord America 2.057
EU - Europa 1.974
AS - Asia 868
SA - Sud America 156
OC - Oceania 36
AF - Africa 22
Totale 5.113
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Nazione #
US - Stati Uniti d'America 2.038
DE - Germania 453
IT - Italia 357
SG - Singapore 323
SE - Svezia 318
CN - Cina 254
PL - Polonia 174
UA - Ucraina 139
GB - Regno Unito 138
BR - Brasile 131
FR - Francia 106
IE - Irlanda 95
FI - Finlandia 57
ID - Indonesia 56
IN - India 56
AU - Australia 36
RU - Federazione Russa 36
TR - Turchia 34
IR - Iran 32
HK - Hong Kong 28
KR - Corea 25
NL - Olanda 18
AT - Austria 16
BE - Belgio 15
ES - Italia 14
CO - Colombia 13
VN - Vietnam 13
JP - Giappone 12
CA - Canada 10
MX - Messico 9
SK - Slovacchia (Repubblica Slovacca) 8
TN - Tunisia 7
BD - Bangladesh 6
PK - Pakistan 6
RO - Romania 6
BA - Bosnia-Erzegovina 4
NO - Norvegia 4
AR - Argentina 3
CZ - Repubblica Ceca 3
EC - Ecuador 3
MA - Marocco 3
TW - Taiwan 3
UY - Uruguay 3
ZA - Sudafrica 3
AE - Emirati Arabi Uniti 2
AO - Angola 2
AZ - Azerbaigian 2
BN - Brunei Darussalam 2
CH - Svizzera 2
CL - Cile 2
DZ - Algeria 2
EE - Estonia 2
EG - Egitto 2
IQ - Iraq 2
SA - Arabia Saudita 2
UZ - Uzbekistan 2
CI - Costa d'Avorio 1
DK - Danimarca 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
JO - Giordania 1
LT - Lituania 1
LV - Lettonia 1
ME - Montenegro 1
MO - Macao, regione amministrativa speciale della Cina 1
NG - Nigeria 1
OM - Oman 1
PE - Perù 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
RS - Serbia 1
SC - Seychelles 1
SI - Slovenia 1
SY - Repubblica araba siriana 1
TH - Thailandia 1
Totale 5.113
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Città #
Chandler 355
Ashburn 244
Warsaw 162
Singapore 151
New York 119
Fairfield 109
Dublin 92
Milan 91
Jacksonville 82
Woodbridge 76
Wilmington 71
San Mateo 68
Cattolica 59
Jakarta 55
Norwalk 54
Ann Arbor 51
Marseille 49
Houston 47
Seattle 44
Beijing 43
Cambridge 37
Redmond 37
Busto Arsizio 32
Munich 32
Boston 28
Moscow 26
Nanjing 26
Dearborn 25
Nürnberg 25
Lawrence 24
Helsinki 23
Princeton 20
Hong Kong 19
Izmir 19
Los Angeles 19
San Diego 19
Seoul 19
Hefei 17
São Paulo 17
Gloucester 16
Guangzhou 16
London 16
Brussels 15
Cardano 15
Brisbane 14
Pune 14
Chicago 13
Rome 13
Bogotá 12
Frankfurt am Main 12
Lancaster 12
Redwood City 12
Hangzhou 11
Düsseldorf 10
Nanchang 9
Sydney 9
Bratislava 8
Hebei 8
Tianjin 8
University Park 8
Amsterdam 7
Boardman 7
Dong Ket 7
Kunming 7
Shenyang 7
Tehran 7
The Dalles 7
Ankara 6
Barcelona 6
Bremen 6
Brescia 6
Buffalo 6
Changsha 6
Fremont 6
Mountain View 6
Vienna 6
Washington 6
Yongin-si 6
Belo Horizonte 5
Jiaxing 5
Kish 5
Nuremberg 5
San Francisco 5
Wroclaw 5
Bologna 4
Edinburgh 4
Falls Church 4
Fremantle 4
Gilgit 4
Lappeenranta 4
Lauterbourg 4
Melbourne 4
Phoenix 4
Portsmouth 4
Prineville 4
Sarajevo 4
Shanghai 4
Shenzhen 4
Stockholm 4
Tabriz 4
Totale 2.946
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Nome #
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents 216
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients 204
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter 187
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 151
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function 149
Acute aerobic exercise and Irisin serum levels in young and middle-aged adults 147
5-HTTLPR polymorphism is associated to differences in behavioral response and HPA reactivity to a social stressor in 4-month-old infants 141
Producing hiPS cells for disease modeling of NLSD-M 137
Neutral lipid storage diseases as cellular model to study lipid droplet function 135
A late-onset case of neutral lipid storage disease with myopathy, dropped head syndrome, and peripheral nerve involvement 134
Exploring the positive involvement of primary motor cortex in observing motor sequences with music: a pilot study with tDCS 133
Brain-Derived Neurotrophic Factor Production in Response to Strenuous Incremental Exercise across adulthood 123
βeta-endorphin levels following acute physical exercise in young and middle-aged adults 122
A myopathy with unusual features caused by PNPLA2 gene mutations 117
Social stress regulation in 4-month-old infants: Contribution of maternal social engagement and infants' 5-HTTLPR genotype 113
Neutral Lipid Storage Disease with Myopathy: disease modeling using patients’ hiPSc 108
PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER 107
Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation 106
Further evidence supporting the association between 5HTR2C gene and bipolar disorder 105
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene 104
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 103
Serotoninergic and dopaminergic genes in bipolar disorder and response to treatments in bipolar depression. Investigation on a well-characterized naturalistic sample 102
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 101
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function 97
The BDNFval66met polymorphism and individual differences in temperament in 4-month-old infants: A pilot study 96
Chanarin-Dorfman syndrome: a case report with novel mutation in ABHD5 gene 95
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings 90
ETF dehydrogenase advances in molecular genetics and impact on treatment 89
Late onset and heterogeneous clinical presentation in three affected members of a NLSDM Italian family 88
Novel mutations in the PNPLA2 gene causing late one-set of neutral lipid storage disease with myopathy in an Italian family 85
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy 79
Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation 79
Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms 79
COMTval158met polymorphism is associated with behavioral response and physiologic reactivity to socio-emotional stress in 4-month-old infants 77
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome 75
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients 72
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 71
Neutral lipid storage disease with myopathy: A 10-year follow-up case report 68
Familial distal myopathy due to PNPLA2 mutation 68
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy 67
Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients 66
Salivary and serum irisin in healthy adults before and after exercise 65
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 63
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity 62
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM 61
CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition 61
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings 55
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency 53
The time course of irisin release after an acute exercise: relevant implications for health and future experimental designs 45
Metabolic lipid muscle disorders: biomarkers and treatment 45
Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M(NLSD-M) Patients 37
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype 36
Effects of Exhaustive Exercise on Adiponectin and High-Molecular-Weight Oligomer Levels in Male Amateur Athletes 35
Early Adipogenesis and Upregulation of UCP1 in Mesenchymal Stromal Cells Stimulated by Devitalized Microfragmented Fat (MiFAT) 34
New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings 30
Salivary irisin is induced by strenuous exercise stimulus and correlates with circulating irisin 21
Influence of age and fitness level on β-endorphin response to acute aerobic exercise in healthy men 19
XBP1s-EDEM2 Prevents the Onset and Development of HFpEF by Ameliorating Cardiac Lipotoxicity 12
Totale 5.220
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Categoria #
all - tutte 22.909
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 22.909
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020149 0 0 0 0 0 0 0 0 0 0 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
2024/20251.105 44 61 92 68 78 59 58 53 226 130 236 0
Totale 5.220