Missaglia, Sara
 Distribuzione geografica
Continente #
NA - Nord America 1.921
EU - Europa 1.643
AS - Asia 302
SA - Sud America 20
OC - Oceania 10
AF - Africa 9
Totale 3.905
Nazione #
US - Stati Uniti d'America 1.911
DE - Germania 415
SE - Svezia 283
IT - Italia 206
PL - Polonia 161
CN - Cina 160
UA - Ucraina 137
GB - Regno Unito 124
IE - Irlanda 101
FR - Francia 84
IN - India 52
FI - Finlandia 45
BE - Belgio 38
TR - Turchia 25
IR - Iran 18
CO - Colombia 11
HK - Hong Kong 11
AU - Australia 10
JP - Giappone 8
KR - Corea 8
RU - Federazione Russa 8
VN - Vietnam 8
AT - Austria 7
MX - Messico 7
TN - Tunisia 6
BR - Brasile 5
NL - Olanda 5
RO - Romania 5
BA - Bosnia-Erzegovina 4
ES - Italia 4
NO - Norvegia 4
CA - Canada 3
CZ - Repubblica Ceca 3
BD - Bangladesh 2
CH - Svizzera 2
CL - Cile 2
ID - Indonesia 2
SG - Singapore 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 3.905
Città #
Chandler 355
Ashburn 219
Warsaw 160
New York 114
Fairfield 109
Dublin 99
Jacksonville 82
Woodbridge 76
Wilmington 70
San Mateo 68
Cattolica 59
Norwalk 54
Ann Arbor 51
Marseille 49
Houston 47
Seattle 44
Beijing 41
Milan 41
Brussels 38
Cambridge 37
Redmond 37
Boston 26
Nanjing 26
Dearborn 25
Nürnberg 25
Lawrence 24
Boydton 21
Munich 21
Princeton 20
Izmir 19
San Diego 19
London 18
Gloucester 16
Cardano 15
Pune 14
Helsinki 13
Chicago 12
Lancaster 12
Redwood City 12
Bogotá 11
Hangzhou 10
Hong Kong 9
Nanchang 9
Guangzhou 8
Hebei 8
Tianjin 8
University Park 8
Dong Ket 7
Kunming 7
Shenyang 7
Bremen 6
Brescia 6
Fremont 6
Mountain View 6
Seelze 6
Vienna 6
Yongin-si 6
Boardman 5
Jiaxing 5
Kish 5
Tehran 5
Washington 5
Edinburgh 4
Falls Church 4
Fremantle 4
Rome 4
Sarajevo 4
Shanghai 4
São Paulo 4
Tabriz 4
Ankara 3
Buffalo 3
Busto Arsizio 3
Changsha 3
Genova 3
Hefei 3
Hounslow 3
Jinan 3
Lanzhou 3
Mexico 3
Oslo 3
San Francisco 3
Senago 3
Tokyo 3
Acton 2
Brno 2
Central 2
Chiswick 2
Cuauhtémoc 2
Dreieich 2
Düsseldorf 2
Eden Prairie 2
Groningen 2
Gunzenhausen 2
Jaipur 2
Kilburn 2
Lappeenranta 2
Melbourne 2
Montreal 2
Nashua 2
Totale 2.453
Nome #
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents 208
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients 199
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 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 127
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 123
Acute aerobic exercise and Irisin serum levels in young and middle-aged adults 122
5-HTTLPR polymorphism is associated to differences in behavioral response and HPA reactivity to a social stressor in 4-month-old infants 118
Producing hiPS cells for disease modeling of NLSD-M 117
Exploring the positive involvement of primary motor cortex in observing motor sequences with music: a pilot study with tDCS 111
Social stress regulation in 4-month-old infants: Contribution of maternal social engagement and infants' 5-HTTLPR genotype 105
A myopathy with unusual features caused by PNPLA2 gene mutations 104
Chanarin Dorfman Syndrome: A Case Report with Novel Nonsense Mutation 97
Neutral Lipid Storage Disease with Myopathy: disease modeling using patients’ hiPSc 94
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 90
PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER 88
Imbalance between Expression of FOXC2 and Its lncRNA in Lymphedema-Distichiasis Caused by Frameshift Mutations 88
Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac function 87
Serotoninergic and dopaminergic genes in bipolar disorder and response to treatments in bipolar depression. Investigation on a well-characterized naturalistic sample 86
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 83
Chanarin-Dorfman syndrome: a case report with novel mutation in ABHD5 gene 83
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 74
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings 72
Novel mutations in the PNPLA2 gene causing late one-set of neutral lipid storage disease with myopathy in an Italian family 71
COMTval158met polymorphism is associated with behavioral response and physiologic reactivity to socio-emotional stress in 4-month-old infants 64
MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy 62
Foxc2 disease mutations identified in lymphedema distichiasis patients impair transcriptional activity and cell proliferation 62
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 61
Familial distal myopathy due to PNPLA2 mutation 58
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
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome 58
Harm avoidance moderates the influence of serotonin transporter gene variants on treatment outcome in bipolar patients 56
Correlation between ETFDH mutations and dysregulation of serum myomiRs in MADD patients 56
Influence of 5-HTTLPR polymorphism on postpartum depressive and posttraumatic symptoms 55
Prevalence of mutations in LEP, LEPR, and MC4R genes in individuals with severe obesity 51
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations. 49
ETF dehydrogenase advances in molecular genetics and impact on treatment 48
Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency 46
Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM 44
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings 38
Metabolic lipid muscle disorders: biomarkers and treatment 38
CDKN2A Determines Mesothelioma Cell Fate to EZH2 Inhibition 35
Neutral lipid storage disease with myopathy: A 10-year follow-up case report 29
Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M(NLSD-M) Patients 20
Salivary and serum irisin in healthy adults before and after exercise 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 5
Totale 3.989
Categoria #
all - tutte 13.861
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 13.861


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201985 0 0 0 0 0 0 0 0 16 24 28 17
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
2022/20231.047 113 139 77 135 59 129 59 85 127 65 35 24
2023/2024517 36 147 21 31 36 141 50 40 15 0 0 0
Totale 3.989