IRIS
CARDAIOLI, ELENA
 Distribuzione geografica
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Continente #
NA - Nord America 3311
EU - Europa 2018
AS - Asia 362
Continente sconosciuto - Info sul continente non disponibili 5
SA - Sud America 5
OC - Oceania 3
Totale 5704
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Nazione #
US - Stati Uniti d'America 3301
GB - Regno Unito 891
CN - Cina 329
SE - Svezia 262
UA - Ucraina 249
IT - Italia 192
FR - Francia 120
DE - Germania 112
IE - Irlanda 83
FI - Finlandia 42
BE - Belgio 27
NL - Olanda 19
TR - Turchia 14
CA - Canada 8
VN - Vietnam 7
RU - Federazione Russa 5
EU - Europa 4
IR - Iran 4
BG - Bulgaria 3
IL - Israele 3
AU - Australia 2
CH - Svizzera 2
CL - Cile 2
DK - Danimarca 2
ES - Italia 2
JP - Giappone 2
PL - Polonia 2
A2 - ???statistics.table.value.countryCode.A2??? 1
AN - Antille olandesi 1
AR - Argentina 1
BR - Brasile 1
EC - Ecuador 1
GR - Grecia 1
HK - Hong Kong 1
HR - Croazia 1
HU - Ungheria 1
IN - India 1
LU - Lussemburgo 1
MY - Malesia 1
NZ - Nuova Zelanda 1
RO - Romania 1
TT - Trinidad e Tobago 1
Totale 5704
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Città #
Southend 849
Menlo Park 737
Fairfield 428
Chandler 268
Jacksonville 215
Woodbridge 189
Ashburn 179
Wilmington 172
Seattle 169
Ann Arbor 166
Houston 161
Cambridge 147
Beijing 101
Siena 88
Dublin 83
Princeton 82
Nanjing 77
Venezia 36
Boardman 35
Nanchang 29
San Mateo 27
Tianjin 21
San Diego 20
Brussels 15
Izmir 13
Norwalk 13
Shenyang 13
Düsseldorf 12
Hebei 12
Waanrode 12
Changsha 11
Kunming 11
Lancaster 10
Jiaxing 9
Ningbo 9
Jinan 8
Dong Ket 7
Auburn Hills 6
Arezzo 5
Falls Church 5
Fremont 5
Itri 5
London 5
Redwood City 5
Rome 5
Taizhou 5
Zhengzhou 5
Dearborn 4
Hefei 4
Berlin 3
Guangzhou 3
Philadelphia 3
Shanghai 3
Sofia 3
Ancona 2
Changchun 2
Chicago 2
Frankfurt am Main 2
Fuzhou 2
Indiana 2
Lanzhou 2
Los Angeles 2
Markham 2
Milan 2
Modena 2
Monmouth Junction 2
Nettuno 2
Phoenix 2
Tokyo 2
Toronto 2
Warsaw 2
Zanjan 2
Amsterdam 1
Antrodoco 1
Barcelona 1
Budapest 1
Calenzano 1
Canberra 1
Central 1
Codevigo 1
Copenhagen 1
Couva 1
Edmonton 1
Groningen 1
Hacienda El Triunfo 1
Haifa 1
Helsinki 1
Kashan 1
Leawood 1
Lequile 1
Luxembourg 1
Melbourne 1
Montemurlo 1
Montreal 1
Montréal 1
New York 1
Niagara Falls 1
Nürnberg 1
Paris 1
Perm 1
Totale 4572
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Nome #
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 261
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 188
null 178
null 177
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 168
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 166
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. 152
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 152
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 150
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy. 150
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 150
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 147
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss. 147
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 146
null 143
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778. 142
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 140
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption [3] 137
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. 135
Mitochondria, oxidative stress and neurodegeneration. 133
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 131
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 127
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. 124
null 123
Rapidly progressive neurodegeneration in a case with the 7472insC mutation and the A7472C polymorphism in the mtDNA tRNA ser(UCN) gene. 115
Molecular genetic study of Leber’s hereditary optic neurophaty (LHON): mutation screening by sequencing of ND1, ND4, ND%, ND6 genes 114
null 111
Alu-element insertion in the OPA1 intron sequence associated with ADOA. 109
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene 106
Genetic leukoencephalopaties with unknown metabolic pathogenesis 105
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA. 104
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telythromicin consumption 104
Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: clinical variability or effect of toxic exposure? 104
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family. 99
Heterogeneity of retinal manifestations in mitochondrial myopathy: genotype/phenotype correlation in our experience. 98
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835. 92
Alu-element insertion in an OPA1 intron sequence associated with autosomal dominant optic atrophy. 91
null 89
Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies. 87
possible founder mutation as the cause of adoa in the province of Syracuse, Sicily 85
null 84
Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogienic DNA mutations 74
The mitogenome of the true bug Nysius cymoides (Insecta, Heteroptera) and the phylogeny of Lygaeoidea 72
Studies on the biological effects of ozone: 4. Cytokine productionand glutathione levels in human erythrocytes 67
The complete mitochondrial genome of Trissolcus japonicus (Hymenoptera: Scelionidae), the candidate for the biological control of Halyomorpha halys (Hemiptera: Pentatomidae) 53
Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions 49
Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed. 24
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion 20
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance? 19
Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) 18
Redefining phenotypes associated with mitochondrial DNA single deletion 14
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. 13
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion 10
Totale 5797
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Categoria #
all - tutte 9074
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 9074
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/201873 0000 00 00 15103810
2018/20191488 41276819 20170 66547 3580164152
2019/20201192 1533997191 7181 96140 121953672
2020/2021814 40835368 3786 20131 93609548
2021/2022617 67973544 4018 3023 246063116
2022/2023860 5380154122 93183 2075 80000
Totale 5797