SALVIATI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 12.314
EU - Europa 1.588
AS - Asia 1.405
OC - Oceania 33
SA - Sud America 28
AF - Africa 12
Continente sconosciuto - Info sul continente non disponibili 6
Totale 15.386
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Nazione #
US - Stati Uniti d'America 12.294
CN - Cina 639
IT - Italia 480
SG - Singapore 405
FI - Finlandia 235
SE - Svezia 199
VN - Vietnam 192
DE - Germania 179
GB - Regno Unito 130
UA - Ucraina 107
FR - Francia 105
HK - Hong Kong 39
NL - Olanda 36
AU - Australia 31
IE - Irlanda 31
ES - Italia 23
KR - Corea 21
IN - India 19
CA - Canada 17
IL - Israele 17
BR - Brasile 16
JP - Giappone 14
TR - Turchia 12
TH - Thailandia 11
CO - Colombia 10
PS - Palestinian Territory 10
NO - Norvegia 9
PK - Pakistan 8
BE - Belgio 7
EG - Egitto 7
RO - Romania 7
TW - Taiwan 7
CH - Svizzera 6
EU - Europa 6
PT - Portogallo 6
RU - Federazione Russa 6
AT - Austria 4
GR - Grecia 4
PH - Filippine 4
PL - Polonia 4
HU - Ungheria 2
KE - Kenya 2
MX - Messico 2
NG - Nigeria 2
NZ - Nuova Zelanda 2
SA - Arabia Saudita 2
AR - Argentina 1
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BG - Bulgaria 1
BY - Bielorussia 1
CL - Cile 1
CZ - Repubblica Ceca 1
DK - Danimarca 1
HR - Croazia 1
ID - Indonesia 1
IR - Iran 1
MA - Marocco 1
MY - Malesia 1
OM - Oman 1
RS - Serbia 1
SI - Slovenia 1
TT - Trinidad e Tobago 1
Totale 15.386
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Città #
Fairfield 2.186
Woodbridge 1.497
Houston 1.016
Ashburn 974
Ann Arbor 944
Chandler 862
Cambridge 752
Seattle 745
Wilmington 662
Jacksonville 476
Singapore 307
Princeton 243
San Diego 217
Beijing 206
Dong Ket 180
Padova 166
Medford 125
Des Moines 110
Helsinki 108
Roxbury 102
New York 92
Nanjing 87
Boardman 83
Guangzhou 41
Milan 41
Santa Clara 41
Shenyang 36
London 33
Hebei 32
Dublin 31
Nanchang 26
Rome 25
Jiaxing 20
Melbourne 18
Norwalk 18
Jinan 17
Los Angeles 14
Tianjin 13
Ho Chi Minh City 12
Munich 12
Ogden 12
Changsha 11
Redwood City 11
Washington 11
Bogotá 10
Falls Church 10
Tappahannock 10
Turin 10
Nablus 9
Dallas 8
Hefei 8
San Jose 8
Shanghai 8
Indiana 7
Frankfurt am Main 6
Kilburn 6
Plymouth 6
Taizhou 6
Toronto 6
Zhengzhou 6
Amsterdam 5
Borås 5
Council Bluffs 5
Haifa 5
Hangzhou 5
Seoul 5
São Paulo 5
Taipei 5
Waanrode 5
Wuhan 5
Bangkok 4
Brisbane 4
Ciudad Real 4
Gloucester 4
Hamburg 4
Hounslow 4
Islamabad 4
Istanbul 4
Moscow 4
Nonthaburi 4
Phoenix 4
Redmond 4
Rishon LeTsiyyon 4
Rockville 4
Suita 4
Taiyuan 4
Tokyo 4
Venice 4
Vercelli 4
Zurich 4
Ankara 3
Arcade 3
Auburn Hills 3
Bologna 3
Cairo 3
Chicago 3
Chiswick 3
Clifton 3
Concordia Sulla Secchia 3
Cumming 3
Totale 12.899
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Nome #
Primary Coenzyme Q10 Deficiency 420
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence 350
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? 165
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 161
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 155
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 155
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 149
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 145
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 145
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass 140
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 138
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 137
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 136
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 136
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 135
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 134
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 130
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 130
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 129
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 126
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome 126
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 126
Comorbidity between headache and epilepsy in a pediatric headache center 125
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 125
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion 124
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients 122
Age and sex prevalence estimate of Joubert syndrome in Italy. 122
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 119
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells 118
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 117
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 117
Coenzyme Q biosynthesis in health and disease 117
The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction 117
Challenges in diagnosis and treatment of late-onset Pompe disease. 117
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 117
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption 116
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease 116
A novel CRYAB mutation resulting in multisystemic disease. 113
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 113
Diagnostic challenges in facioscapulohumeral muscular dystrophy 112
Acute quadriplegic myopathy in a 17 month old boy 112
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 112
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome 112
Acute disseminated encephalomyelitis associated with hepatitis C virus infection 111
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations 110
A functionally dominant mitochondrial DNA mutation 110
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. 109
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA 108
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 107
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 107
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 107
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA 106
Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up 106
Coenzyme Q deficiency in muscle 106
Molecular Genetics of Argininosuccinic Aciduria 106
Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney. 105
6q27 subtelomeric deletions: Is there a specific phenotype? 104
In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy. 104
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. 103
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes. 103
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 102
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects 101
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 100
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 100
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects 100
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. 99
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. 95
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 94
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 94
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation 93
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle 93
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 93
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ(10) deficiency 92
Genetics of coenzyme q10 deficiency. 92
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy 92
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. 91
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 90
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 90
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA 89
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype 89
Mutation screening in patients with isolated cytochrome c oxidase deficiency 88
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 87
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina 87
Sarcopenia: Aging-Related Loss of Muscle Mass and Function. 87
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency. 87
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 86
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 86
Coenzyme Q10 deficiencies in neuromuscular diseases. 86
Genetic susceptibility to teratogens: State of the art. 85
OPA1 and Its Clinical Implications 85
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 84
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases 84
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist 83
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 83
Renal involvement in mitochondrial cytopathies. 82
Diencephalic Syndrome and Disseminated Juvenile Pilocytic Asrocytomas of the Hyptholamic- Optic Chiasm Region 80
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition 80
Glycogen synthase binds to sarcoplasmic reticulum and is phosphorylated by CaMKII in fast-twitch skeletal muscle 80
Is there a link between COQ6 and schwannomatosis? 79
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease 78
Totale 11.409
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Categoria #
all - tutte 56.540
article - articoli 54.285
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.172
Totale 111.997
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.344 0 0 0 225 294 223 272 353 332 318 205 122
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
2024/2025691 72 287 265 67 0 0 0 0 0 0 0 0
Totale 15.608