IRIS
BARUFFINI, Enrico
 Distribuzione geografica
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Continente #
NA - Nord America 6.212
AS - Asia 5.190
EU - Europa 3.668
SA - Sud America 673
AF - Africa 240
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 10
Totale 16.008
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Nazione #
US - Stati Uniti d'America 6.042
SG - Singapore 1.870
CN - Cina 1.311
IT - Italia 1.125
VN - Vietnam 826
IE - Irlanda 594
SE - Svezia 507
BR - Brasile 480
HK - Hong Kong 434
FI - Finlandia 316
DE - Germania 282
BD - Bangladesh 229
FR - Francia 190
ZA - Sudafrica 169
NL - Olanda 156
UA - Ucraina 147
TR - Turchia 113
GB - Regno Unito 112
CA - Canada 92
IN - India 89
RU - Federazione Russa 60
CL - Cile 55
MX - Messico 54
AR - Argentina 52
JP - Giappone 45
KR - Corea 40
IQ - Iraq 38
ES - Italia 32
BE - Belgio 29
PL - Polonia 27
EC - Ecuador 23
ID - Indonesia 22
PH - Filippine 21
PK - Pakistan 21
SA - Arabia Saudita 19
VE - Venezuela 18
AT - Austria 17
CO - Colombia 15
CZ - Repubblica Ceca 14
UZ - Uzbekistan 14
CI - Costa d'Avorio 13
MA - Marocco 12
TW - Taiwan 12
AU - Australia 11
EG - Egitto 11
IL - Israele 11
IR - Iran 11
LT - Lituania 11
TH - Thailandia 10
EU - Europa 9
KE - Kenya 9
PE - Perù 9
PT - Portogallo 9
UY - Uruguay 9
CH - Svizzera 8
PY - Paraguay 8
AE - Emirati Arabi Uniti 7
AZ - Azerbaigian 7
TN - Tunisia 7
DK - Danimarca 6
ET - Etiopia 6
GE - Georgia 5
AL - Albania 4
DZ - Algeria 4
GT - Guatemala 4
JM - Giamaica 4
JO - Giordania 4
NO - Norvegia 4
PA - Panama 4
RO - Romania 4
BH - Bahrain 3
BY - Bielorussia 3
DO - Repubblica Dominicana 3
GY - Guiana 3
LB - Libano 3
LK - Sri Lanka 3
MY - Malesia 3
NG - Nigeria 3
NP - Nepal 3
NZ - Nuova Zelanda 3
CR - Costa Rica 2
CY - Cipro 2
KZ - Kazakistan 2
LY - Libia 2
OM - Oman 2
PS - Palestinian Territory 2
QA - Qatar 2
SI - Slovenia 2
SY - Repubblica araba siriana 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BF - Burkina Faso 1
BG - Bulgaria 1
BO - Bolivia 1
BW - Botswana 1
DM - Dominica 1
EE - Estonia 1
HN - Honduras 1
Totale 15.992
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Città #
Singapore 929
Ashburn 731
Dublin 591
San Jose 591
Chandler 577
Santa Clara 470
Hong Kong 405
Dallas 391
Beijing 299
Parma 269
Ho Chi Minh City 247
Ann Arbor 213
Hanoi 192
Boardman 191
Dearborn 179
Jacksonville 170
Los Angeles 163
Johannesburg 159
Shanghai 130
New York 123
Nanjing 120
Lauterbourg 101
Princeton 99
Izmir 90
Wilmington 80
Buffalo 62
Hefei 61
São Paulo 61
Council Bluffs 60
Munich 49
Milan 48
Helsinki 47
San Mateo 46
Haiphong 40
Moscow 40
Bologna 39
Columbus 38
Houston 36
Jinan 36
Shenyang 36
Toronto 36
Des Moines 34
Nuremberg 34
Rome 33
Tokyo 33
Woodbridge 31
Da Nang 29
Santiago 29
Falls Church 28
Brussels 27
Nanchang 27
The Dalles 27
Dosolo 26
Orem 26
Tianjin 26
Seoul 25
Guangzhou 24
Hebei 24
Kunming 23
Padova 23
Brooklyn 22
London 22
Seattle 22
Oceanside 21
Warsaw 21
Atlanta 20
Changsha 19
Jakarta 19
Mexico City 19
Montreal 19
Redmond 19
Denver 18
Frankfurt am Main 18
Phoenix 17
Amsterdam 16
Hải Dương 16
Zhengzhou 16
Belo Horizonte 15
Boston 15
Catania 15
Modena 15
Rio de Janeiro 15
Stockholm 15
Chennai 14
San Francisco 14
Turku 14
Vienna 14
Abidjan 13
Baghdad 13
Chicago 13
Haikou 13
Marseille 12
Tashkent 12
Biên Hòa 11
Mumbai 11
Piacenza 11
Brasília 10
Brescia 10
Can Tho 10
Charlotte 10
Totale 9.393
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Nome #
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies 362
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study 332
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 217
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases 209
Yeast-Based Functional Investigation of ELAC2 Variants in Mitochondrial Dysfunction 200
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism 200
DNA polymerase [gamma] and disease: what we have learned from yeast 199
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism 196
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 192
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 192
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex 191
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 187
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 187
Yeast models of human MTO1 variants confirm two diagnoses of mitochondrial modopathy 184
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites 183
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 182
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 178
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 177
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae 175
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 175
A yeast-based repurposing approach for the treatment of mitochondrial DNA depletion syndromes led to the identification of molecules able to modulate the dNTP pool 171
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases 164
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 164
Combined use of Saccharomyces cerevisiae, Caenorhabditis elegans and patient fibroblasts leads to the identification of Clofilium tosylate as a potential therapeutic chemical against POLG-related diseases 164
S. cerevisiae carrying a MGM1/OPA1 chimeric gene: a model for the study of dominant optic atrophy and for drug discovery 163
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae 161
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. 161
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 161
A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerases 159
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 159
Investigation of mupirocin susceptibility in bifidobacteria: physiological and genetic insights. 157
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability 156
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 152
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 152
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 151
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of DNA polymerase gamma allelic variants 150
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 149
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 149
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review 148
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast 148
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 148
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 147
A variable neurodegenerative phenotype with polymerase gamma mutation 146
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 146
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 145
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 144
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy 142
YEAST MODEL FOR NOVEL AARS2 MUTATIONS ASSOCIATED WITH PROGRESSIVE LEUKOENCEPHALOPATHY AND CEREBELLAR ATAXIA 141
Mitochondrial Aminoacyl-tRNA Synthetase: The Power Of Yeast In Modeling Human Pathological Mutations 141
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae 140
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 140
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 140
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 139
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of Polg allelic variants 136
How to easily detect plant NADH-glutamate dehydrogenase (GDH) activity? A simple and reliable in planta procedure suitable for tissues, extracts and heterologous microbial systems 136
De novo DNM1L pathogenic variant associated with lethal encephalocardiomyopathy and a literature review 135
A simple organism to address big questions: how Saccharomyces cerevisiae can support mitochondrial medicine 135
Construction of a yeast model system for studying in vivo susceptibility to stavudine of Polg allelic variants 135
Mitochondrial disorders caused by mutations impairing miotchondrial dynamics 135
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment 134
Yeast equivalents of disease associated human POLG mutations show deleterious cooperative effects in vivo 134
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 134
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy 133
Overexpression of DNA polymerase zeta and Rev1 reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 132
Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant 131
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE 131
Clinical and molecular features of mitochondrial DNA depletion syndromes. 129
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 129
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features 128
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease 127
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models 127
The absence of SNF8 in the yeast Saccharomyces cerevisiae leads to mitochondrial dysfunction 125
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 122
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 121
Saccharomyces cerevisiae, a model system to study the effect of mtDNA polymerase mutations associated with PEO in humans. 121
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 121
The power of yeast in modeling human mutations: mitochondrial aminoacyl tRNA synthetases and mitochondrial tRNA modifiers 120
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 117
The power of yeast in modeling human mutations leading to mitochondrial disease 116
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains 115
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders 114
Yeast model for drug discovery: Identification of molecules acting as potential therapeutics for POLG-related diseases 113
The yeast Saccharomyces cerevisiae as a model to deepen the knowledge about the mitochondrial metallopeptidase PITRM1 in health and disease 111
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 111
Galactose transport in Kluyveromyces lactis: a genomic approach 109
Yeast as a model for drug discovery: Identification of a molecule acting as potential therapeutics for POLG-related diseases 108
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model 107
Rescue by Pol zeta overexpression of mitochondrial DNA instability due to mutations in Pol gamma in S. cerevisiae 106
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 106
Galactose transport in Kluyveromyces lactis: a genomic approach 103
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 102
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 101
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 101
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene 100
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. 100
Pre-clinical identification of drugs targeting polg disorders by using a zebrafish/yeast trans-species approach (ZIPPY) 100
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS 100
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders 99
Galactose transport in Kluyveromyces lactis 99
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 97
Totale 14.662
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Categoria #
all - tutte 52.673
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 52.673
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202147 0 0 0 0 0 0 0 0 0 0 0 47
2021/2022529 23 19 10 26 20 27 49 54 28 41 28 204
2022/20232.032 220 221 168 148 150 210 33 121 666 17 57 21
2023/2024933 56 74 39 31 70 182 101 72 23 90 67 128
2024/20252.992 59 129 165 189 352 462 118 125 433 230 219 511
2025/20266.784 586 662 705 588 955 352 750 214 884 483 358 247
Totale 16.597