IRIS
BARUFFINI, Enrico
 Distribuzione geografica
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Continente #
NA - Nord America 5.129
AS - Asia 3.838
EU - Europa 3.336
SA - Sud America 591
AF - Africa 188
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 10
Totale 13.104
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Nazione #
US - Stati Uniti d'America 5.003
SG - Singapore 1.623
CN - Cina 1.219
IT - Italia 970
IE - Irlanda 591
SE - Svezia 509
BR - Brasile 446
HK - Hong Kong 349
FI - Finlandia 315
DE - Germania 262
VN - Vietnam 260
NL - Olanda 154
UA - Ucraina 147
ZA - Sudafrica 138
TR - Turchia 106
GB - Regno Unito 95
FR - Francia 82
CA - Canada 64
IN - India 57
RU - Federazione Russa 57
MX - Messico 49
AR - Argentina 46
CL - Cile 38
BD - Bangladesh 32
KR - Corea 32
BE - Belgio 29
JP - Giappone 27
ES - Italia 26
PL - Polonia 25
IQ - Iraq 24
EC - Ecuador 19
ID - Indonesia 18
AT - Austria 15
CZ - Repubblica Ceca 13
CI - Costa d'Avorio 12
CO - Colombia 11
IL - Israele 11
IR - Iran 11
PK - Pakistan 11
LT - Lituania 10
VE - Venezuela 10
AU - Australia 9
EG - Egitto 9
EU - Europa 9
MA - Marocco 8
UZ - Uzbekistan 8
KE - Kenya 7
PT - Portogallo 7
SA - Arabia Saudita 7
AZ - Azerbaigian 6
CH - Svizzera 6
DK - Danimarca 6
PE - Perù 6
PH - Filippine 6
PY - Paraguay 6
UY - Uruguay 6
AE - Emirati Arabi Uniti 5
GE - Georgia 4
NO - Norvegia 4
RO - Romania 4
AL - Albania 3
BH - Bahrain 3
DZ - Algeria 3
ET - Etiopia 3
GY - Guiana 3
LK - Sri Lanka 3
PA - Panama 3
TN - Tunisia 3
BY - Bielorussia 2
DO - Repubblica Dominicana 2
GT - Guatemala 2
JM - Giamaica 2
JO - Giordania 2
KZ - Kazakistan 2
LB - Libano 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
OM - Oman 2
TH - Thailandia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BW - Botswana 1
CR - Costa Rica 1
CY - Cipro 1
DM - Dominica 1
EE - Estonia 1
KG - Kirghizistan 1
LY - Libia 1
MC - Monaco 1
MK - Macedonia 1
NP - Nepal 1
PW - Palau 1
SO - Somalia 1
TM - Turkmenistan 1
TT - Trinidad e Tobago 1
TW - Taiwan 1
Totale 13.104
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Città #
Singapore 803
Ashburn 656
Dublin 588
Chandler 577
Santa Clara 460
Dallas 380
Hong Kong 343
Beijing 300
Parma 257
Ann Arbor 213
Dearborn 182
Boardman 181
Jacksonville 174
Johannesburg 132
Shanghai 129
Los Angeles 125
Nanjing 121
Princeton 100
Ho Chi Minh City 96
Izmir 90
New York 90
Wilmington 80
Hefei 61
Hanoi 57
São Paulo 54
Munich 49
San Mateo 47
Helsinki 44
Buffalo 43
Moscow 40
Columbus 37
Jinan 37
Shenyang 36
Toronto 35
Des Moines 34
Houston 34
Bologna 33
Nuremberg 33
Woodbridge 31
Milan 30
Falls Church 28
Brussels 27
Nanchang 27
Dosolo 26
Tianjin 26
Hebei 25
Seoul 25
Guangzhou 24
Kunming 23
Padova 23
Tokyo 23
Brooklyn 22
The Dalles 22
Rome 21
Seattle 20
Changsha 19
London 19
Redmond 19
Warsaw 19
Mexico City 18
Orem 18
Jakarta 17
Santiago 17
Denver 16
Zhengzhou 16
Belo Horizonte 15
Boston 15
Catania 15
Phoenix 15
Stockholm 15
Amsterdam 14
San Francisco 14
Turku 14
Council Bluffs 13
Haikou 13
Montreal 13
Rio de Janeiro 13
Vienna 13
Abidjan 12
Atlanta 11
Chennai 11
Haiphong 11
Marseille 11
Modena 11
San Jose 11
Baghdad 10
Brescia 10
Dong Ket 10
Piacenza 10
Curitiba 9
Fairfield 9
Frankfurt am Main 9
Fremont 9
Guarulhos 9
Jiaxing 9
Poplar 9
Redwood City 9
Almería 8
Berlin 8
Brasília 8
Totale 7.748
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Nome #
Saccharomyces cerevisiae as a model to study the role of mutations in SDHA gene associated to hereditary optic neuropathies 339
Mechanistic insights on the mode of action of an antiproliferative thiosemicarbazone-nickel complex revealed by an integrated chemogenomic profiling study 291
A yeast-based repurposing approach revealed modulation of dNTP pool as a therapeutic target to treat mitochondrial DNA depletion syndromes 181
Yeast, worm, patient’s fibroblasts and zebrafish as models for drug repositioning of molecules targeting POLG-related diseases 180
DNA polymerase [gamma] and disease: what we have learned from yeast 177
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 176
A chemical genomic approach to characterize the antiproliferative activity of metal based drugsdriven by phenotypic screening in yeast as a model organism 172
A chemical genomic approach to characterize the antiproliferative activity of metal-based drugs driven by phenotipic screening in yeast as a model organism 161
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy 161
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island 159
Amino and carboxy-terminal extensions of yeast mitochondrial DNA polymerase assemble both the polymerization and exonuclease active sites 154
Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy 153
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 152
Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models 151
A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability 145
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration 145
Yeast as a model of mitochondrial dysfunctions: neurodegenerative diseases and cancer. 144
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 141
S. cerevisiae carrying a MGM1/OPA1 chimeric gene: a model for the study of dominant optic atrophy and for drug discovery 141
Validation of a MGM1/OPA1 chimeric gene for functional analysis in yeast of mutations associated with dominant optic atrophy 138
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 138
The identification of beneficial molecules for mitochondrial diseases: Saccharomyces cerevisiae as powerful model 138
Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations 138
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive externalophthalmoplegia in humans 137
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 136
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 135
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of DNA polymerase gamma allelic variants 134
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function 134
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension 134
The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases 133
Functional characterization of archaic-specific variants in mitonuclear genes: insights from comparative analysis in S. cerevisiae 131
Yeast-Based Functional Investigation of ELAC2 Variants in Mitochondrial Dysfunction 130
COMPOUNDS FOR THE TREATMENT OF MITOCHONDRIAL DISEASES 130
YEAST MODEL FOR NOVEL AARS2 MUTATIONS ASSOCIATED WITH PROGRESSIVE LEUKOENCEPHALOPATHY AND CEREBELLAR ATAXIA 128
Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae 126
Construction and validation of a yeast model system for studying in vivo the susceptibility to stavudine of Polg allelic variants 126
A variable neurodegenerative phenotype with polymerase gamma mutation 126
Investigation of mupirocin susceptibility in bifidobacteria: physiological and genetic insights. 126
Overexpression of DNA Polymerase Zeta Reduces the Mitochondrial Mutability Caused by Pathological Mutations in DNA Polymerase Gamma in Yeast 125
Construction of a yeast model system for studying in vivo susceptibility to stavudine of Polg allelic variants 123
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 123
Yeast equivalents of disease associated human POLG mutations show deleterious cooperative effects in vivo 122
Saccharomyces cerevisiae as a model for the identification of beneficial molecules for mitochondrial diseases. 122
Yeast models of human MTO1 variants confirm two diagnoses of mitochondrial modopathy 120
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae 120
Mitochondrial disorders caused by mutations impairing miotchondrial dynamics 120
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease 120
The power of yeast in modeling human mutations leading to mitochondrial disease:the case of ANT1, YARS2, DNM1L and LYRM7. 118
Mitochondrial Aminoacyl-tRNA Synthetase: The Power Of Yeast In Modeling Human Pathological Mutations 118
Saccharomyces cerevisiae as a system to discover beneficial molecules for mitochondrial diseases 118
Clinical and molecular features of mitochondrial DNA depletion syndromes. 117
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 116
Saccharomyces cerevisiae as a tool for studying mutations in nuclear genes involved in diseases caused by mitochondrial DNA instability 115
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy 113
Modeling in yeast of KARS pathogenic variants associated with a progressive and multi-systemic disease: impact on cytosolic and mitochondrial isoforms 113
COMMON POLG GENETIC VARIANTS INCREASE THERISK OF SODIUM VALPROATE INDUCED LIVER INJURYAND FAILURE 112
Identification of drugs for the treatment of POLG-related diseases by means of a high throughput drug repurposing approach performed in Saccharomyces cerevisiae 112
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease 111
Overexpression of DNA polymerase zeta and Rev1 reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 110
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish 110
The power of yeast in modeling human mutations: mitochondrial aminoacyl tRNA synthetases and mitochondrial tRNA modifiers 109
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast. 109
Modopathies Caused by Mutations in Genes Encoding for Mitochondrial RNA Modifying Enzymes: Molecular Mechanisms and Yeast Disease Models 109
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 108
Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features 107
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies 105
Construction and characterization of centromeric, episomal and GFP-containing vectors for Saccharomyces cerevisiae prototrophic strains 104
Saccharomyces cerevisiae, a model system to study the effect of mtDNA polymerase mutations associated with PEO in humans. 104
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration 103
Mitochondrial aminoacyl‐trna synthetase and disease: The yeast contribution for functional analysis of novel variants 102
Mitmed: a multicenter consortium for the identification and characterization of nuclear genes responsisble for human mitochondrial disorders 97
The power of yeast in modeling human mutations leading to mitochondrial disease 96
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model 95
Construction and validation of a yeast model system for studying in vivo the susceptibility to nucleoside analogues of DNA polymerase gamma allelic variants. 94
Yeast as a model for drug discovery: Identification of a molecule acting as potential therapeutics for POLG-related diseases 93
Multicystic Interstitial Lung Disease Due to a Novel Biallelic C-C Chemokine Receptor Type 2 Variant 92
Galactose transport in Kluyveromyces lactis: a genomic approach 92
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 91
The absence of SNF8 in the yeast Saccharomyces cerevisiae leads to mitochondrial dysfunction 91
Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment 90
Yeast model for drug discovery: Identification of molecules acting as potential therapeutics for POLG-related diseases 90
Glutamate dehydrogenase isoenzyme 3 (GDH3) of Arabidopsis thaliana is less thermostable than GDH1 and GDH2 isoenzymes 90
A steric gate prevents mutagenic dATP incorporation opposite 8-oxo-deoxyguanosine in mitochondrial DNA polymerases 89
Rescue by Pol zeta overexpression of mitochondrial DNA instability due to mutations in Pol gamma in S. cerevisiae 89
Galactose transport in Kluyveromyces lactis: a genomic approach 89
OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions 89
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast 89
Hsp12p and PAU genes are involved in ecological interactions between natural yeast strains 88
Galactose transporters discriminate steric anomers at the cell surface in yeast 87
De novo DNM1L pathogenic variant associated with lethal encephalocardiomyopathy and a literature review 86
Galactose transport in Kluyveromyces lactis 86
Galactose transport in Kluyveromyces lactis: major role of the glucose permease Hgt1 86
Yeast as a model for drug discovery: identification of a molecule acting as potential therapeutics for POLG-related diseases 86
Yeast as a model for drug repositioning: analysis of molecules acting as potential therapeutics for POLG-related diseases 86
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. 85
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA 85
Genetic rescue by enzymes involved in mitochondrial DNA repair of Saccharomyces cerevisiae phenotypes induced by mitochondrial DNA polymerase mutations 85
MITMED: A MULTICENTER CONSORTIUM FOR THE IDENTIFICATION AND CHARACTERIZATION OF NUCLEAR GENES RESPONSIBLE FOR HUMAN MITOCHONDRIAL DISORDERS 85
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy 84
Yeast equivalents of disease-associated human POLG mutations show deleterious cooperative effects. 81
Totale 12.145
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Categoria #
all - tutte 46.380
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 46.380
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021480 0 0 0 0 0 43 69 51 133 47 90 47
2021/2022534 23 19 10 26 20 27 50 55 29 41 28 206
2022/20232.041 222 222 169 148 150 210 34 122 669 17 57 21
2023/2024938 56 74 39 31 71 182 101 76 23 90 67 128
2024/20253.012 59 130 166 190 353 465 118 126 440 232 220 513
2025/20263.806 588 664 708 588 956 302 0 0 0 0 0 0
Totale 13.687