TREVISSON, EVA
 Distribuzione geografica
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Continente #
NA - Nord America 7.164
AS - Asia 1.063
EU - Europa 916
OC - Oceania 39
SA - Sud America 24
AF - Africa 19
Continente sconosciuto - Info sul continente non disponibili 4
Totale 9.229
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Nazione #
US - Stati Uniti d'America 7.142
CN - Cina 473
SG - Singapore 315
IT - Italia 274
SE - Svezia 139
FI - Finlandia 118
DE - Germania 98
GB - Regno Unito 74
VN - Vietnam 64
HK - Hong Kong 50
AU - Australia 36
FR - Francia 36
UA - Ucraina 36
NL - Olanda 34
IN - India 24
TR - Turchia 24
ES - Italia 20
CA - Canada 19
IL - Israele 19
JP - Giappone 16
KR - Corea 16
TH - Thailandia 15
BR - Brasile 14
IE - Irlanda 14
PT - Portogallo 13
PK - Pakistan 11
CO - Colombia 10
EG - Egitto 10
IR - Iran 10
PS - Palestinian Territory 10
RU - Federazione Russa 10
NO - Norvegia 9
BE - Belgio 8
CH - Svizzera 7
RO - Romania 6
PL - Polonia 5
TW - Taiwan 5
AT - Austria 4
PH - Filippine 4
SA - Arabia Saudita 4
NG - Nigeria 3
NZ - Nuova Zelanda 3
SK - Slovacchia (Repubblica Slovacca) 3
A2 - ???statistics.table.value.countryCode.A2??? 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
EU - Europa 2
HU - Ungheria 2
KE - Kenya 2
MA - Marocco 2
MX - Messico 2
BA - Bosnia-Erzegovina 1
BD - Bangladesh 1
BY - Bielorussia 1
DK - Danimarca 1
LU - Lussemburgo 1
MY - Malesia 1
OM - Oman 1
TT - Trinidad e Tobago 1
Totale 9.229
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Città #
Fairfield 1.252
Woodbridge 733
Houston 599
Ann Arbor 558
Chandler 549
Ashburn 538
Cambridge 416
Seattle 403
Wilmington 354
Singapore 267
Jacksonville 160
Boardman 151
Santa Clara 147
Beijing 135
San Diego 128
Princeton 110
Padova 102
Medford 69
Helsinki 62
New York 61
Des Moines 58
Dong Ket 52
Roxbury 51
Nanjing 43
London 23
Shenyang 23
Guangzhou 21
Melbourne 18
Changsha 14
Dublin 14
Milan 14
Nanchang 13
Hebei 12
Ho Chi Minh City 12
Tianjin 11
Washington 11
Bogotá 10
Chicago 10
Jinan 10
Norwalk 10
Rochester 10
Los Angeles 9
Nablus 9
Toronto 9
Haifa 8
Nijmegen 8
Redwood City 8
Zhengzhou 8
Hong Kong 7
Jiaxing 7
Rome 7
Wuhan 7
Bangkok 6
Cagliari 6
Hefei 6
Istanbul 6
Lisbon 6
Munich 6
Phoenix 6
Plymouth 6
San Jose 6
Santa Barbara 6
Shanghai 6
Tappahannock 6
Tokyo 6
Bhopal 5
Hangzhou 5
Waanrode 5
Ankara 4
Borås 4
Dallas 4
Falls Church 4
Frankfurt am Main 4
Gloucester 4
Indiana 4
Islamabad 4
Lowell 4
Nonthaburi 4
Ogden 4
Perth 4
Rishon LeTsiyyon 4
Seville 4
Suita 4
São Paulo 4
Taizhou 4
Verona 4
Waco 4
Amsterdam 3
Auckland 3
Bratislava 3
Brisbane 3
Central 3
Clifton 3
Council Bluffs 3
Dongguan 3
Duluth 3
Funchal 3
Fuzhou 3
Hamburg 3
Hamilton 3
Totale 7.529
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Nome #
Primary Coenzyme Q10 Deficiency 518
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly 161
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6 154
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 152
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease 151
Analysis of Coenzyme Q(10) in muscle and fibroblasts for the diagnosis of CoQ(10) deficiency syndromes 147
Is CFTR 621+3 A > G a cystic fibrosis causing mutation? 145
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study 145
Molecular analysis of two uncharacterized sequence variants of the VHL gene. 144
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas 144
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. 142
Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma 142
A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. 141
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function 140
Argininosuccinate lyase deficiency: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene. 133
Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations 133
Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene. 132
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 132
Age and sex prevalence estimate of Joubert syndrome in Italy. 132
Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome 131
RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography. 131
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2 130
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration 130
Usefulness and limitations of comprehensive characterization of mRNA splicing profiles in the definition of the clinical relevance of BRCA1/2 variants of uncertain significance 128
Alport syndrome: impact of digenic inheritance in patients management. 126
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1 125
Coenzyme Q biosynthesis in health and disease 123
Clinical syndromes associated with Coenzyme Q10 deficiency. 121
Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells 120
Optic pathway glioma in type 1 neurofibromatosis: Review of its pathogenesis, diagnostic assessment, and treatment recommendations 120
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria 120
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency. 119
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 119
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency. 118
Molecular Genetics of Argininosuccinic Aciduria 117
A functionally dominant mitochondrial DNA mutation 115
Functional characterization of human COQ4, a gene required for Coenzyme Q(10) biosynthesis 114
De novo trisomy 20p characterized by array comparative genomic hybridization: Report of a novel case and review of the literature. 114
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 109
Coenzyme Q deficiency in muscle 108
Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence? 108
In vivo detection of Choroidal abnormalities related to NF1: Feasibility and comparison with standard NIH diagnostic criteria in pediatric patients 108
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. 103
The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis 102
Expanding the mutational spectrum of LZTR1 in schwannomatosis. 100
X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. 99
Optical Coherence Tomography in the Diagnosis of Optic Pathway Gliomas 99
Genetics of coenzyme q10 deficiency. 98
Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1 97
Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy 96
Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis. 95
Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype 94
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 93
Coenzyme Q(10) is frequently reduced in muscle of patients with mitochondrial myopathy 93
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay. 91
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 91
Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency 90
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability 88
OPA1 and Its Clinical Implications 87
Numerical activities of daily living in adults with neurofibromatosis type 1 86
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. 81
Is there a link between COQ6 and schwannomatosis? 81
Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement 80
Retinal Vascular Abnormalities related to Neurofibromatosis Type 1: Natural History and Classification by OCT Angiography in 473 Patients 80
Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants. 79
Gene symbol:ASL. Disease: Argininosuccinate deficiency. 78
Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma 78
Genetic bases and experimental models for the study of inherited metabolic diseases 77
Haploinsufficiency of COQ4 causes coenzymeQ10 deficiency 74
Neurofibromatosis type 1 in two siblings due to Maternal Germline Mosaicism. 72
Hybrid minigene assay: An efficient tool to characterize mrna splicing profiles of nf1 variants 70
The COQ2 genotype predicts the severity of Coenzyme Q10 deficiency 69
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study 64
Wilms tumor in patients with osteopathia striata with cranial sclerosis 63
Characterization of the 5 ' region of human CoQ2, a gene causing primary CoQ10 deficiency 61
Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT Angiography 61
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders. 56
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans 55
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1 53
Integrated cgh/wes analyses advance understanding of aggressive neuroblastoma evolution: A case study 51
Dysfunctional coping is related to impaired skin-related QoL and psychological distress in patients with Neurofibromatosis type 1 49
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature 49
CREB e ICER: Nuovi regolatori dell'espressione genica dipendente dall'AMP ciclico nella leucemia acuta pediatrica. 43
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation 41
Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations 39
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study 39
Epilepsy in NF1: Epidemiologic, genetic, and clinical features. a monocentric retrospective study in a cohort of 784 patients 38
Ambra1 deficiency impairs mitophagy in skeletal muscle 34
COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells 27
Mutations in Assembly Factors Required for the Biogenesis of Mitochondrial Respiratory Chain 21
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms 21
A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature 19
Coenzyme Q Biosynthesis Disorders 19
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation 19
C16ORF70/Mytho promotes healthy ageing in C. elegans and prevents cellular senescence in mammals 14
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX 8
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 7
Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis 7
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules 6
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis 5
Totale 9.432
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Categoria #
all - tutte 32.422
article - articoli 29.730
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.758
Totale 63.910
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.076 0 0 0 0 0 107 164 202 194 197 135 77
2020/20211.491 68 85 49 79 177 119 39 115 198 211 220 131
2021/20221.588 26 136 197 115 137 185 125 97 167 30 112 261
2022/20231.032 195 137 28 138 139 123 0 80 135 12 34 11
2023/2024937 54 87 104 84 73 125 96 72 36 38 66 102
2024/20251.032 57 169 145 184 391 86 0 0 0 0 0 0
Totale 9.435