SALVIATI, LEONARDO
 Distribuzione geografica
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Continente #
NA - Nord America 11.890
EU - Europa 1.219
AS - Asia 796
OC - Oceania 12
SA - Sud America 8
Continente sconosciuto - Info sul continente non disponibili 6
AF - Africa 1
Totale 13.932
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Nazione #
US - Stati Uniti d'America 11.882
CN - Cina 526
IT - Italia 319
FI - Finlandia 230
SE - Svezia 199
VN - Vietnam 180
DE - Germania 156
UA - Ucraina 107
GB - Regno Unito 103
HK - Hong Kong 33
IE - Irlanda 29
NL - Olanda 28
IL - Israele 16
AU - Australia 11
ES - Italia 11
KR - Corea 10
PS - Palestinian Territory 9
CA - Canada 8
IN - India 8
BE - Belgio 7
BR - Brasile 6
EU - Europa 6
AT - Austria 4
FR - Francia 4
TR - Turchia 4
GR - Grecia 3
JP - Giappone 3
NO - Norvegia 3
PH - Filippine 3
RO - Romania 3
RU - Federazione Russa 3
CH - Svizzera 2
PT - Portogallo 2
SG - Singapore 2
AR - Argentina 1
BG - Bulgaria 1
BY - Bielorussia 1
CL - Cile 1
EG - Egitto 1
HU - Ungheria 1
MY - Malesia 1
NZ - Nuova Zelanda 1
PL - Polonia 1
RS - Serbia 1
SI - Slovenia 1
TW - Taiwan 1
Totale 13.932
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Città #
Fairfield 2.186
Woodbridge 1.497
Houston 1.016
Ann Arbor 944
Ashburn 914
Chandler 862
Cambridge 752
Seattle 735
Wilmington 662
Jacksonville 476
Princeton 243
San Diego 217
Dong Ket 180
Beijing 160
Medford 125
Padova 125
Des Moines 110
Helsinki 107
Roxbury 102
Nanjing 87
Boardman 77
Shenyang 36
Guangzhou 35
Hebei 32
London 31
Dublin 29
Nanchang 26
Milan 24
Jiaxing 20
Norwalk 18
Jinan 17
Rome 16
Tianjin 13
Changsha 11
Redwood City 11
Washington 11
Falls Church 10
Tappahannock 10
Nablus 9
New York 9
Hefei 8
Melbourne 8
Indiana 7
Taizhou 6
Zhengzhou 6
Borås 5
Haifa 5
San Jose 5
Seoul 5
Waanrode 5
Ciudad Real 4
Hangzhou 4
Hounslow 4
Phoenix 4
Redmond 4
Rishon LeTsiyyon 4
Rockville 4
Taiyuan 4
Ankara 3
Arcade 3
Auburn Hills 3
Chiswick 3
Concordia Sulla Secchia 3
Cumming 3
Duluth 3
Kharkiv 3
Lanzhou 3
Munich 3
New Bedfont 3
Prescot 3
Tel Aviv 3
Toronto 3
Acton 2
Ashdod 2
Bagnaria Arsa 2
Brescia 2
Busan 2
Cardiff 2
Castelcovati 2
Catania 2
Central 2
Chicago 2
Eindhoven 2
Fuzhou 2
Hamburg 2
Herzliya 2
Ishie 2
Joinville 2
Kunming 2
Kyiv 2
Lamporecchio 2
Moscow 2
Napoli 2
Ningbo 2
Oslo 2
Ottaviano 2
Pesaro 2
San Francisco 2
Seodaemun-gu 2
Shanghai 2
Totale 12.135
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Nome #
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence 302
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? 160
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. 157
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 147
Primary Coenzyme Q10 Deficiency 146
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients 146
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 140
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 140
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 137
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 132
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 131
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 130
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 129
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 128
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass 128
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 126
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 124
Comorbidity between headache and epilepsy in a pediatric headache center 123
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 122
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome 121
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 121
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion 121
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients 120
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 119
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 115
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 115
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 114
Challenges in diagnosis and treatment of late-onset Pompe disease. 113
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells 113
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 112
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 112
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. 111
ADCK4 mutations promote steroid-Resistant nephrotic syndrome through CoQ10 biosynthesis disruption 111
Coenzyme Q biosynthesis in health and disease 110
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 110
The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction 109
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome 108
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations 107
Dandy-Walker Malformation Masking the Molar Tooth Sign: An Illustrative Case With Magnetic Resonance Imaging Follow-up 105
Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation. 105
A functionally dominant mitochondrial DNA mutation 105
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 105
Acute disseminated encephalomyelitis associated with hepatitis C virus infection 105
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 104
Coenzyme Q deficiency in muscle 104
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. 104
Molecular Genetics of Argininosuccinic Aciduria 104
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease 104
Acute quadriplegic myopathy in a 17 month old boy 103
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA 103
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA 102
A novel CRYAB mutation resulting in multisystemic disease. 102
Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes. 102
Diagnostic challenges in facioscapulohumeral muscular dystrophy 100
6q27 subtelomeric deletions: Is there a specific phenotype? 100
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations 99
In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy. 99
Treatment of CoQ(10) Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects 98
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. 97
Novel mutations in the L1CAM gene support the complexity of L1 syndrome 96
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 95
Complexity of the 5'UTR region of the CLCN5 gene: eleven 5'UTR ends are differentially expressed in the human kidney. 95
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 95
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. 95
The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects 94
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ(10) deficiency 91
Two splice variants of CaMKII-anchoring protein are present in the sarcoplasmic reticulum of rabbit fast-twitch muscle 91
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2. 91
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation 90
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy 90
Hunter syndrome in an 11-year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution. 89
Genetics of coenzyme q10 deficiency. 89
Age and sex prevalence estimate of Joubert syndrome in Italy. 89
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 86
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. 85
High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints 85
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 85
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? 85
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA 84
Coenzyme Q10 deficiencies in neuromuscular diseases. 84
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype 84
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 83
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 83
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 82
Genetic susceptibility to teratogens: State of the art. 81
Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina 81
Mitochondrial cristae shape determines respiratory chain supercomplexes assembly and respiratory efficiency. 81
Mutation screening in patients with isolated cytochrome c oxidase deficiency 80
Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases 80
OPA1 and Its Clinical Implications 79
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 79
Sarcopenia: Aging-Related Loss of Muscle Mass and Function. 79
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 79
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition 78
Two unusual cases of Gitelman's syndrome with a complex inheritance: how the phenotype can help interpret the genotype: lesson for the clinical nephrologist 78
Is there a link between COQ6 and schwannomatosis? 77
Renal involvement in mitochondrial cytopathies. 77
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease 76
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 75
Diencephalic Syndrome and Disseminated Juvenile Pilocytic Asrocytomas of the Hyptholamic- Optic Chiasm Region 74
Totale 10.530
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Categoria #
all - tutte 38.095
article - articoli 36.700
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 642
Totale 75.437
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20191.157 0 0 0 0 0 5 12 73 14 235 451 367
2019/20202.870 376 92 58 225 294 223 272 353 332 318 205 122
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
2023/2024641 85 149 145 125 101 36 0 0 0 0 0 0
Totale 14.140