SALVIATI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 13.664
AS - Asia 3.223
EU - Europa 2.777
SA - Sud America 531
AF - Africa 93
OC - Oceania 65
Continente sconosciuto - Info sul continente non disponibili 8
Totale 20.361
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Nazione #
US - Stati Uniti d'America 13.553
SG - Singapore 1.227
CN - Cina 784
IT - Italia 775
HK - Hong Kong 640
BR - Brasile 463
DE - Germania 401
FI - Finlandia 308
SE - Svezia 203
VN - Vietnam 202
GB - Regno Unito 196
NL - Olanda 153
PL - Polonia 131
FR - Francia 119
UA - Ucraina 112
RU - Federazione Russa 87
ES - Italia 78
AT - Austria 71
CA - Canada 67
AU - Australia 61
IN - India 56
TR - Turchia 49
JP - Giappone 42
KR - Corea 38
IE - Irlanda 34
IL - Israele 27
CI - Costa d'Avorio 25
CL - Cile 19
MX - Messico 19
BD - Bangladesh 18
CH - Svizzera 18
EG - Egitto 16
TH - Thailandia 16
IQ - Iraq 15
PK - Pakistan 14
AR - Argentina 12
BE - Belgio 12
CO - Colombia 12
EC - Ecuador 12
PS - Palestinian Territory 11
TW - Taiwan 11
UZ - Uzbekistan 11
NO - Norvegia 10
SA - Arabia Saudita 10
SK - Slovacchia (Repubblica Slovacca) 10
ZA - Sudafrica 9
PT - Portogallo 8
RO - Romania 7
CZ - Repubblica Ceca 6
EU - Europa 6
MA - Marocco 6
YE - Yemen 6
ID - Indonesia 5
IR - Iran 5
LT - Lituania 5
NP - Nepal 5
PE - Perù 5
GR - Grecia 4
KE - Kenya 4
LB - Libano 4
NG - Nigeria 4
PH - Filippine 4
PR - Porto Rico 4
AL - Albania 3
BA - Bosnia-Erzegovina 3
DK - Danimarca 3
MY - Malesia 3
NZ - Nuova Zelanda 3
OM - Oman 3
PY - Paraguay 3
UY - Uruguay 3
AF - Afghanistan, Repubblica islamica di 2
AZ - Azerbaigian 2
BG - Bulgaria 2
BY - Bielorussia 2
CD - Congo 2
CV - Capo Verde 2
DJ - Gibuti 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
GN - Guinea 2
HN - Honduras 2
HU - Ungheria 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LU - Lussemburgo 2
MD - Moldavia 2
NE - Niger 2
NI - Nicaragua 2
PA - Panama 2
RS - Serbia 2
SI - Slovenia 2
TL - Timor Orientale 2
TN - Tunisia 2
TT - Trinidad e Tobago 2
UG - Uganda 2
YT - Mayotte 2
AD - Andorra 1
AE - Emirati Arabi Uniti 1
AI - Anguilla 1
Totale 20.324
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Città #
Fairfield 2.186
Woodbridge 1.497
Houston 1.019
Ashburn 1.016
Ann Arbor 946
Chandler 862
Cambridge 754
Seattle 751
Singapore 672
Wilmington 662
Hong Kong 589
Jacksonville 479
Boardman 293
Princeton 244
Padova 240
Santa Clara 233
San Diego 221
Beijing 207
Dong Ket 180
Helsinki 128
Medford 128
Bytom 116
Des Moines 111
New York 105
Roxbury 102
Milan 95
Nanjing 88
Munich 63
London 49
Turku 48
Nuremberg 46
Guangzhou 45
Los Angeles 43
Philadelphia 38
Rome 38
Melbourne 36
Shenyang 36
São Paulo 35
Dublin 34
Hebei 32
Vienna 32
Nanchang 26
Abidjan 25
Ottawa 25
Waco 22
Rio de Janeiro 21
Jiaxing 20
Tianjin 20
Chicago 19
Frankfurt am Main 19
Barcelona 18
Norwalk 18
Göttingen 17
Jinan 17
Milwaukee 16
Brasília 15
Ho Chi Minh City 15
East Lansing 14
Ankara 13
Changsha 13
Detroit 13
Toronto 13
Washington 13
Amsterdam 12
Bogotá 12
Cologne 12
Dallas 12
Falkenstein 12
Istanbul 12
Ogden 12
San Francisco 12
Shanghai 12
Columbia 11
Nijmegen 11
Ningbo 11
North Bergen 11
Phoenix 11
Redwood City 11
Tashkent 11
Toyonaka 11
Bratislava 10
Brisbane 10
Edmond 10
Falls Church 10
Tappahannock 10
Tokyo 10
Turin 10
Belo Horizonte 9
Boston 9
Haifa 9
Nablus 9
Venice 9
Atlanta 8
Hefei 8
Mumbai 8
Pikesville 8
San Jose 8
Zhengzhou 8
Bari 7
Charlotte 7
Totale 15.264
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Nome #
Primary Coenzyme Q10 Deficiency 716
Marigold and MitoCIAO, two searchable compendia to visualize and functionalize protein complexes during mitochondrial remodeling 573
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence 406
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 217
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 187
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 184
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? 179
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 178
Age and sex prevalence estimate of Joubert syndrome in Italy. 177
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass 172
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 168
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 168
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 161
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 159
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 158
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 157
Diagnostic challenges in facioscapulohumeral muscular dystrophy 156
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 155
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 154
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 154
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 153
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 152
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 151
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion 144
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 143
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 143
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 142
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome 142
The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction 138
Acute quadriplegic myopathy in a 17 month old boy 137
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption 137
Coenzyme Q biosynthesis in health and disease 136
Comorbidity between headache and epilepsy in a pediatric headache center 135
A novel CRYAB mutation resulting in multisystemic disease. 135
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients 135
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 133
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells 133
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 132
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 132
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 131
Acute disseminated encephalomyelitis associated with hepatitis C virus infection 131
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome 130
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 130
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease 130
A functionally dominant mitochondrial DNA mutation 129
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. 127
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 127
Molecular Genetics of Argininosuccinic Aciduria 127
Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney. 127
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 126
6q27 subtelomeric deletions: Is there a specific phenotype? 126
Challenges in diagnosis and treatment of late-onset Pompe disease. 126
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects 125
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA 124
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations 122
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes. 122
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 121
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 120
Coenzyme Q deficiency in muscle 119
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA 118
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 118
Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up 117
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. 117
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 117
In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy. 116
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype 116
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 113
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 113
Genetics of coenzyme q10 deficiency. 113
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 113
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects 112
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 111
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 111
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. 111
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 107
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina 107
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. 106
Mutation screening in patients with isolated cytochrome c oxidase deficiency 106
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle 104
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency. 104
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 104
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation 103
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ(10) deficiency 103
Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants. 103
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 102
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy 102
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients. 102
OPA1 and Its Clinical Implications 101
Sarcopenia: Aging-Related Loss of Muscle Mass and Function. 101
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 100
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist 100
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants 100
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. 99
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA 98
Diencephalic Syndrome and Disseminated Juvenile Pilocytic Asrocytomas of the Hyptholamic- Optic Chiasm Region 97
Genetic susceptibility to teratogens: State of the art. 96
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 96
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 95
Analysis of comorbidity between headache and epilepsy in a pediatric Headache Center 95
Coenzyme Q10 deficiencies in neuromuscular diseases. 95
Totale 14.094
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Categoria #
all - tutte 74.679
article - articoli 71.349
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.823
Totale 147.851
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020122 0 0 0 0 0 0 0 0 0 0 0 122
2020/20212.977 109 123 77 180 277 319 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
2024/20255.718 72 287 265 268 703 148 577 542 600 278 879 1.099
Totale 20.635