IRIS
FEDERICO, ANTONIO
 Distribuzione geografica
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Continente #
NA - Nord America 55.761
EU - Europa 35.889
AS - Asia 19.823
SA - Sud America 3.309
AF - Africa 875
OC - Oceania 78
Continente sconosciuto - Info sul continente non disponibili 61
Totale 115.796
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Nazione #
US - Stati Uniti d'America 55.198
GB - Regno Unito 10.050
CN - Cina 7.791
RU - Federazione Russa 6.552
SG - Singapore 6.050
IE - Irlanda 4.798
UA - Ucraina 3.475
BR - Brasile 2.801
SE - Svezia 2.367
FR - Francia 2.313
DE - Germania 2.115
IT - Italia 1.823
HK - Hong Kong 1.454
VN - Vietnam 1.452
FI - Finlandia 1.162
KR - Corea 1.073
ZA - Sudafrica 454
IN - India 413
ES - Italia 311
CA - Canada 290
BD - Bangladesh 287
TR - Turchia 270
NL - Olanda 211
AR - Argentina 172
IQ - Iraq 172
JP - Giappone 156
MX - Messico 155
BE - Belgio 149
NG - Nigeria 147
PL - Polonia 121
PK - Pakistan 108
EC - Ecuador 77
ID - Indonesia 74
SA - Arabia Saudita 71
AU - Australia 64
CZ - Repubblica Ceca 63
VE - Venezuela 59
EU - Europa 55
CL - Cile 50
CO - Colombia 50
MA - Marocco 47
CI - Costa d'Avorio 45
AT - Austria 44
UZ - Uzbekistan 43
EG - Egitto 40
IL - Israele 40
LT - Lituania 38
KE - Kenya 35
JO - Giordania 34
PH - Filippine 34
PY - Paraguay 33
RO - Romania 31
BG - Bulgaria 30
UY - Uruguay 30
MY - Malesia 29
DZ - Algeria 28
AZ - Azerbaigian 27
IR - Iran 26
NP - Nepal 25
GR - Grecia 24
AE - Emirati Arabi Uniti 23
TN - Tunisia 23
KZ - Kazakistan 22
HR - Croazia 19
JM - Giamaica 19
HU - Ungheria 18
KG - Kirghizistan 18
PE - Perù 18
PT - Portogallo 17
CH - Svizzera 16
DK - Danimarca 16
LB - Libano 16
OM - Oman 16
AL - Albania 15
DO - Repubblica Dominicana 15
EE - Estonia 15
PS - Palestinian Territory 15
RS - Serbia 15
BO - Bolivia 14
MD - Moldavia 14
ET - Etiopia 13
MK - Macedonia 13
NZ - Nuova Zelanda 13
PA - Panama 13
LV - Lettonia 12
TT - Trinidad e Tobago 12
BB - Barbados 10
CR - Costa Rica 10
GT - Guatemala 10
KW - Kuwait 9
SN - Senegal 9
HN - Honduras 8
TW - Taiwan 8
LU - Lussemburgo 7
NO - Norvegia 7
SI - Slovenia 7
SK - Slovacchia (Repubblica Slovacca) 7
SY - Repubblica araba siriana 7
TH - Thailandia 7
AM - Armenia 6
Totale 115.668
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Città #
Southend 9.137
Dallas 6.750
Menlo Park 6.687
Fairfield 5.437
Dublin 4.780
Ashburn 3.544
Singapore 3.383
Chandler 3.114
Jacksonville 2.926
Woodbridge 2.565
Houston 2.390
Wilmington 2.191
Seattle 1.979
Cambridge 1.795
Beijing 1.714
Moscow 1.703
Santa Clara 1.639
Hong Kong 1.397
Ann Arbor 1.348
Hefei 1.206
San Jose 1.131
Seoul 1.068
Princeton 1.062
Nanjing 965
The Dalles 721
Los Angeles 571
Siena 521
Lauterbourg 505
New York 490
Helsinki 483
Ho Chi Minh City 462
Boardman 416
Johannesburg 398
Hanoi 382
Nanchang 347
San Diego 343
San Mateo 321
Buffalo 306
São Paulo 256
Council Bluffs 249
Shenyang 245
Munich 236
Málaga 210
Tianjin 184
Hebei 173
London 161
Changsha 155
Shanghai 155
Kunming 153
Izmir 147
Columbus 146
Düsseldorf 145
Tokyo 137
Venezia 137
Abuja 136
Orem 127
Jiaxing 118
San Francisco 118
Dearborn 113
Redondo Beach 113
Turku 112
Toronto 111
Lancaster 105
Frankfurt am Main 99
Warsaw 98
Norwalk 97
Brussels 93
Milan 90
Belo Horizonte 88
Rome 86
Rio de Janeiro 84
Chennai 83
Jinan 83
Washington 82
Bengaluru 76
Brooklyn 76
Guangzhou 76
Hangzhou 76
Montreal 75
Zhengzhou 73
Atlanta 70
Chicago 70
Florence 69
Ningbo 69
Stockholm 69
Phoenix 68
Amsterdam 67
Da Nang 62
Manchester 58
Dong Ket 56
Haiphong 56
Denver 55
Brasília 54
Curitiba 52
Dhaka 52
Waanrode 52
Mestre 49
Redwood City 48
Mexico City 46
Abidjan 45
Totale 82.721
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Nome #
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 439
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 394
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 393
A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia. 391
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 381
A case of bilateral facial palsy with detection of herpes simplex virus type 1 DNA in the cerebrospinal fluid and serum anti-gm1 antibodies. 370
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 369
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 368
A Rett syndrome MECP2 mutation that causes mental retardation in men 366
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 366
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 363
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 358
A case of dystonia with onset during pregnancy 357
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 356
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 352
Tarlov cysts: clinical evaluation of an italian cohort of patients. 342
Neocortical volume decrease in relapsing-remitting multiple sclerosis with mild cognitive impairment 342
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 342
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 342
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 337
1H-MR Spectroscopy in Traumatic Brain Injury 333
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 333
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network 333
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 330
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene 327
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 327
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 327
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 326
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 325
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 324
Perilesional edema in brain metastasis from non-small cell lung cancer (NSCLC) as predictor of response to radiosurgery (SRS) 320
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 320
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 315
Cerebellum and neuropsychiatric disorders: insights from ARSACS 314
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 312
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 311
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 308
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 307
Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report 307
Transient supranuclear paresis of the abduction in viral encephalitis of the brainstem 302
A novel point mutation in the mitochondrial tRNA((Trp)) gene produces late-onset encephalomyopathy, plus additional features 296
Human peripheral blood lymphocytes and fibroblasts as Notch3 expression models. 293
A case report of transient posterior internuclear ophthalmoplegia (PINO) associated with encephalitis of ponto-mesencephalic junction 293
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome. 289
Eye movement abnormalities in a patient with Zellweger spectrum disorder 289
Two novel HTRA1 mutations in a European CARASIL patient. 288
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 288
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 286
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 285
Human fibroblasts undergo oxidative stress-induced apoptosis without internucleosomal DNA fragmentation 284
Automatic eye fixations identification based on analysis of variance and covariance, 284
A case of ovarioleukodystrophy without elF2B mutations 284
Apoptosis and Oxidative Stress in Neurodegenerative Diseases 282
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 281
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 280
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 280
Typical pathological changes of CADASIL in the optic nerve 278
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 277
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 277
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 277
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 275
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 274
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 273
Clinical and MRI improvement in a case of progressive multifocal leukoencephalopathy 273
Clinical Course of Two Italian Siblings with Ataxia-Telangiectasia-Like Disorder. 273
Altered apoptosis regulation in kufor-rakeb syndrome patients with mutations in the atp13a2 gene. 273
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis 272
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient 271
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 270
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 270
Homozygosity and severity of phenotypic presentation in a CADASIL family 269
High frequency of OPA1 mutations causing high ADOA prevalence in south-eastern Sicily, Italy. 269
Ataxia with vitamin E deficiency: update of molecular diagnosis 268
[Multiple sclerosis. Etiopathogenetic review]. 268
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 267
Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy 267
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 267
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 266
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 264
Sindrome di Vogt-Koyanagi-Harada e gestazione. 264
Demyelinating polyneuropathy in a case of anti-LGI1 encephalitis 264
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 263
Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation. 262
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 260
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 259
Spatial ranking strategy and enhanced peripheral vision discrimination optimize performance and efficiency of visual sequential search. 259
Alu-Element Insertion In The Opa1 Intron Sequence Associated With ADOA 257
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 256
MECP2 mutation in male patients with non-specific X-linked mental retardation 256
Evidence of diffuse damage in frontal and occipital cortex in the brain of patients with post-traumatic stress disorder 256
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis 254
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 254
Evidence of apoptosis via TUNEL staining in muscle biopsy from patients with mitochondrial encephaloneuromyopathies 253
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 253
Temporal lobe abnormalities in neurosyphilis 252
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 252
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 252
Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations 251
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 251
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 250
Totale 29.927
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Categoria #
all - tutte 333.438
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 333.438
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.620 0 0 0 0 0 0 0 0 0 0 1.030 590
2021/20226.999 442 1.010 451 433 430 159 391 268 341 781 678 1.615
2022/202310.557 679 635 1.472 1.503 1.159 2.156 144 886 1.091 283 346 203
2023/20246.700 312 153 634 252 193 1.965 2.323 221 39 94 27 487
2024/202513.272 224 800 1.082 734 1.541 556 329 786 1.098 556 1.487 4.079
2025/202630.663 2.551 5.719 4.574 3.424 5.927 1.204 3.126 991 1.006 1.488 653 0
Totale 116.448