SALVIATI, LEONARDO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 15.626
AS - Asia 5.645
EU - Europa 4.439
AF - Africa 1.692
SA - Sud America 1.249
OC - Oceania 222
Continente sconosciuto - Info sul continente non disponibili 91
Totale 28.964
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 14.704
SG - Singapore 1.653
CN - Cina 1.059
IT - Italia 873
BR - Brasile 755
HK - Hong Kong 753
DE - Germania 476
FI - Finlandia 374
VN - Vietnam 337
SE - Svezia 240
GB - Regno Unito 236
NL - Olanda 201
PL - Polonia 187
UA - Ucraina 162
FR - Francia 153
ES - Italia 128
RU - Federazione Russa 125
AT - Austria 116
TR - Turchia 111
IN - India 102
CA - Canada 97
AU - Australia 95
KR - Corea 95
MX - Messico 88
TH - Thailandia 81
JP - Giappone 80
ZA - Sudafrica 72
EC - Ecuador 71
EG - Egitto 67
ID - Indonesia 66
IE - Irlanda 66
SK - Slovacchia (Repubblica Slovacca) 64
IL - Israele 63
AR - Argentina 62
IQ - Iraq 61
AO - Angola 60
CZ - Repubblica Ceca 60
PY - Paraguay 60
IR - Iran 58
LB - Libano 58
CI - Costa d'Avorio 57
AZ - Azerbaigian 54
PT - Portogallo 54
SA - Arabia Saudita 54
BE - Belgio 53
CO - Colombia 53
MK - Macedonia 53
MA - Marocco 52
MY - Malesia 52
MN - Mongolia 51
PE - Perù 51
RO - Romania 51
ML - Mali 50
NO - Norvegia 49
PK - Pakistan 49
CH - Svizzera 48
MR - Mauritania 48
SI - Slovenia 48
AE - Emirati Arabi Uniti 47
GT - Guatemala 47
CL - Cile 46
HU - Ungheria 46
MZ - Mozambico 46
PH - Filippine 46
PR - Porto Rico 46
PS - Palestinian Territory 46
TT - Trinidad e Tobago 46
TW - Taiwan 46
BO - Bolivia 45
BB - Barbados 44
BY - Bielorussia 44
CV - Capo Verde 44
JM - Giamaica 44
LV - Lettonia 44
NI - Nicaragua 44
NP - Nepal 44
UZ - Uzbekistan 44
AL - Albania 43
BF - Burkina Faso 43
DO - Repubblica Dominicana 43
GE - Georgia 43
HN - Honduras 43
MU - Mauritius 43
PA - Panama 43
RE - Reunion 43
TN - Tunisia 43
XK - ???statistics.table.value.countryCode.XK??? 43
CG - Congo 42
CR - Costa Rica 42
CW - ???statistics.table.value.countryCode.CW??? 42
CY - Cipro 42
IS - Islanda 42
KZ - Kazakistan 42
LY - Libia 42
RS - Serbia 42
TZ - Tanzania 42
CD - Congo 41
DJ - Gibuti 41
GH - Ghana 41
KH - Cambogia 41
Totale 26.927
Salva come PNG Salva come JPEG
Città #
Fairfield 2.186
Woodbridge 1.497
Ashburn 1.346
Singapore 1.069
Houston 1.026
Ann Arbor 946
Chandler 862
Cambridge 754
Seattle 753
Wilmington 670
Hong Kong 658
Jacksonville 480
Beijing 359
Boardman 299
Santa Clara 248
Princeton 244
Padova 240
San Diego 221
Dong Ket 180
Los Angeles 170
Helsinki 146
New York 134
Bytom 130
Medford 128
Munich 119
Des Moines 111
Milan 107
Roxbury 102
Chicago 98
Nanjing 88
Turku 70
São Paulo 69
Ho Chi Minh City 68
Buffalo 65
Vienna 65
London 59
Dublin 56
Abidjan 55
Hefei 55
Nuremberg 55
Melbourne 53
Baku 51
Bamako 48
Rome 48
Ulan Bator 48
Luanda 47
Guangzhou 46
Nouakchott 46
Bangkok 45
Bridgetown 42
Redondo Beach 42
Managua 41
Panama City 41
Tashkent 41
Noumea 39
Riga 39
Castries 38
Dar es Salaam 38
Dushanbe 38
Havana 38
Lusaka 38
Maputo 38
Philadelphia 38
Amman 37
Cotonou 37
Djibouti 37
Shenyang 36
Andorra la Vella 35
Antananarivo 35
Phnom Penh 35
Salt Lake City 35
Willemstad 35
Yerevan 35
Bishkek 34
Conakry 34
Dakar 34
Kampala 34
Nassau 34
Praia 34
Vientiane 34
Hanoi 33
Kigali 33
Kinshasa 33
Ouagadougou 33
Reykjavik 33
Hebei 32
Lima 32
Accra 31
Skopje 31
Tirana 31
Dili 30
Niamey 30
Pristina 30
San José 30
Sanaa 30
Bratislava 29
Kingstown 29
Gaborone 28
Harare 28
Johannesburg 28
Totale 18.180
Salva come PNG Salva come JPEG
Nome #
Primary Coenzyme Q10 Deficiency 971
Marigold and MitoCIAO, two searchable compendia to visualize and functionalize protein complexes during mitochondrial remodeling 659
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence 472
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 263
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 237
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 231
Age and sex prevalence estimate of Joubert syndrome in Italy. 228
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 225
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass 224
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? 218
Acute quadriplegic myopathy in a 17 month old boy 212
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 211
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 210
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 208
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 206
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 203
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 203
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 199
Drug Repurposing for Duchenne Muscular Dystrophy: The Monoamine Oxidase B Inhibitor Safinamide Ameliorates the Pathological Phenotype in mdx Mice and in Myogenic Cultures From DMD Patients 196
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 194
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 193
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 192
Diagnostic challenges in facioscapulohumeral muscular dystrophy 191
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 189
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion 185
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 184
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 183
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 181
Coenzyme Q biosynthesis in health and disease 180
The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction 180
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome 177
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome 176
Comorbidity between headache and epilepsy in a pediatric headache center 173
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 173
Acute disseminated encephalomyelitis associated with hepatitis C virus infection 173
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 172
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells 172
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects 172
A functionally dominant mitochondrial DNA mutation 171
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption 170
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 168
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 167
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 167
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA 166
Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia. 164
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. 164
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype 163
Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney. 161
6q27 subtelomeric deletions: Is there a specific phenotype? 160
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 160
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease 159
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations 158
A novel CRYAB mutation resulting in multisystemic disease. 158
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 158
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients 158
In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy. 158
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients. 158
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 157
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 156
Molecular Genetics of Argininosuccinic Aciduria 156
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina 156
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 155
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 153
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 153
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 152
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 151
Challenges in diagnosis and treatment of late-onset Pompe disease. 150
Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants. 150
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. 149
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA 147
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 147
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants 147
Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up 145
Coenzyme Q deficiency in muscle 144
Coenzyme Q10 deficiencies in neuromuscular diseases. 144
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 143
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency. 143
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ(10) deficiency 142
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes. 142
Genetics of coenzyme q10 deficiency. 141
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 141
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 141
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects 141
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. 140
Mutation screening in patients with isolated cytochrome c oxidase deficiency 139
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 138
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy 137
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation 136
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 136
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle 135
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist 135
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. 134
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 133
Multiple colorectal adenomas syndrome: The role of MUTYH mutation and the polyps’ number in clinical management and colorectal cancer risk 130
Renal involvement in mitochondrial cytopathies. 130
The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type i 130
Genetic mutations in Parkinson’s disease: screening of a selected population from North-Eastern Italy 129
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA 129
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle 129
Sarcopenia: Aging-Related Loss of Muscle Mass and Function. 129
Totale 18.219
Salva come PNG Salva come JPEG
Categoria #
all - tutte 89.249
article - articoli 85.194
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.287
Totale 176.730
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.668 0 0 0 180 277 319 83 227 482 297 428 375
2021/20222.728 52 236 409 167 213 291 129 234 216 82 212 487
2022/20231.771 361 205 43 235 234 226 8 131 222 23 51 32
2023/20241.418 85 149 145 125 101 196 134 67 58 62 129 167
2024/20255.848 72 287 265 268 703 148 577 542 600 278 879 1.229
2025/20268.479 1.001 1.543 3.057 2.878 0 0 0 0 0 0 0 0
Totale 29.244