IRIS PubliCatt

Missaglia, Sara
 Distribuzione geografica
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Continente #
NA - Nord America 1.931
EU - Europa 1.704
AS - Asia 383
OC - Oceania 21
SA - Sud America 20
AF - Africa 10
Totale 4.069
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Nazione #
US - Stati Uniti d'America 1.918
DE - Germania 413
SE - Svezia 284
IT - Italia 275
CN - Cina 177
PL - Polonia 164
UA - Ucraina 137
GB - Regno Unito 119
IE - Irlanda 90
FR - Francia 84
IN - India 52
SG - Singapore 50
FI - Finlandia 45
RU - Federazione Russa 35
TR - Turchia 25
AU - Australia 21
IR - Iran 20
BE - Belgio 15
CO - Colombia 11
HK - Hong Kong 11
KR - Corea 11
NL - Olanda 10
VN - Vietnam 10
JP - Giappone 9
MX - Messico 7
TN - Tunisia 7
CA - Canada 6
RO - Romania 6
BR - Brasile 5
BA - Bosnia-Erzegovina 4
ES - Italia 4
NO - Norvegia 4
PK - Pakistan 4
AT - Austria 3
CZ - Repubblica Ceca 3
BD - Bangladesh 2
BN - Brunei Darussalam 2
CH - Svizzera 2
CL - Cile 2
ID - Indonesia 2
TW - Taiwan 2
AE - Emirati Arabi Uniti 1
CI - Costa d'Avorio 1
EC - Ecuador 1
HR - Croazia 1
HU - Ungheria 1
IL - Israele 1
JO - Giordania 1
LT - Lituania 1
MA - Marocco 1
ME - Montenegro 1
PH - Filippine 1
PS - Palestinian Territory 1
PT - Portogallo 1
SA - Arabia Saudita 1
SC - Seychelles 1
SI - Slovenia 1
SK - Slovacchia (Repubblica Slovacca) 1
UY - Uruguay 1
Totale 4.069
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Città #
Chandler 355
Ashburn 224
Warsaw 160
New York 114
Fairfield 109
Dublin 88
Jacksonville 82
Woodbridge 76
Wilmington 70
San Mateo 68
Cattolica 59
Norwalk 54
Ann Arbor 51
Marseille 49
Milan 48
Houston 47
Seattle 44
Beijing 41
Cambridge 37
Redmond 37
Singapore 33
Busto Arsizio 32
Boston 26
Nanjing 26
Dearborn 25
Moscow 25
Nürnberg 25
Lawrence 24
Munich 21
Princeton 20
Izmir 19
San Diego 19
Gloucester 16
Brussels 15
Cardano 15
Guangzhou 14
Pune 14
Helsinki 13
London 13
Chicago 12
Lancaster 12
Redwood City 12
Bogotá 11
Brisbane 10
Hangzhou 10
Hong Kong 9
Nanchang 9
Rome 9
Hebei 8
Tianjin 8
University Park 8
Dong Ket 7
Kunming 7
Shenyang 7
Amsterdam 6
Boardman 6
Bremen 6
Brescia 6
Fremont 6
Mountain View 6
Yongin-si 6
Jiaxing 5
Kish 5
Seoul 5
Tehran 5
Washington 5
Buffalo 4
Edinburgh 4
Falls Church 4
Fremantle 4
Gilgit 4
Prineville 4
Sarajevo 4
Shanghai 4
São Paulo 4
Tabriz 4
Ankara 3
Changsha 3
Genova 3
Hefei 3
Hounslow 3
Jinan 3
Lanzhou 3
Los Angeles 3
Mexico 3
Oslo 3
Phoenix 3
San Francisco 3
Senago 3
Sesto San Giovanni 3
Tokyo 3
Acton 2
Bandar Seri Begawan 2
Brno 2
Central 2
Chiswick 2
Cuauhtémoc 2
Dreieich 2
Düsseldorf 2
Eden Prairie 2
Totale 2.517
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Nome #
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents 206
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients 196
Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter 179
FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function 137
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 131
Neutral lipid storage diseases as cellular model to study lipid droplet function 127
A late-onset case of neutral lipid storage disease with myopathy, dropped head syndrome, and peripheral nerve involvement 124
5-HTTLPR polymorphism is associated to differences in behavioral response and HPA reactivity to a social stressor in 4-month-old infants 122
Producing hiPS cells for disease modeling of NLSD-M 122
Exploring the positive involvement of primary motor cortex in observing motor sequences with music: a pilot study with tDCS 112
Acute aerobic exercise and Irisin serum levels in young and middle-aged adults 108
A myopathy with unusual features caused by PNPLA2 gene mutations 107
Social stress regulation in 4-month-old infants: Contribution of maternal social engagement and infants' 5-HTTLPR genotype 103
Neutral Lipid Storage Disease with Myopathy: disease modeling using patients’ hiPSc 98
Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation 97
PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER 92
Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene 92
Further evidence supporting the association between 5HTR2C gene and bipolar disorder 91
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function 88
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 88
Serotoninergic and dopaminergic genes in bipolar disorder and response to treatments in bipolar depression. Investigation on a well-characterized naturalistic sample 87
Chanarin-Dorfman syndrome: a case report with novel mutation in ABHD5 gene 87
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 86
The BDNFval66met polymorphism and individual differences in temperament in 4-month-old infants: A pilot study 79
Late onset and heterogeneous clinical presentation in three affected members of a NLSDM Italian family 75
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings 74
Novel mutations in the PNPLA2 gene causing late one-set of neutral lipid storage disease with myopathy in an Italian family 72
Brain-Derived Neurotrophic Factor Production in Response to Strenuous Incremental Exercise across adulthood 67
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 63
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy 63
COMTval158met polymorphism is associated with behavioral response and physiologic reactivity to socio-emotional stress in 4-month-old infants 63
Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation 63
Familial distal myopathy due to PNPLA2 mutation 59
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome 59
A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy 58
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients 58
Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients 57
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity 54
Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms 54
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 50
ETF dehydrogenase advances in molecular genetics and impact on treatment 49
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM 47
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency 46
βeta-endorphin levels following acute physical exercise in young and middle-aged adults 42
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings 38
Metabolic lipid muscle disorders: biomarkers and treatment 38
Salivary and serum irisin in healthy adults before and after exercise 37
CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition 35
Neutral lipid storage disease with myopathy: A 10-year follow-up case report 30
Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M(NLSD-M) Patients 19
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype 17
New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings 10
Totale 4.156
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Categoria #
all - tutte 16.390
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 16.390
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020663 57 21 26 51 22 63 130 31 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
2024/202541 41 0 0 0 0 0 0 0 0 0 0 0
Totale 4.156