IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 26.201
EU - Europa 16.041
AS - Asia 2.589
Continente sconosciuto - Info sul continente non disponibili 32
OC - Oceania 30
SA - Sud America 25
AF - Africa 11
Totale 44.929
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Nazione #
US - Stati Uniti d'America 26.132
GB - Regno Unito 5.829
IE - Irlanda 2.922
CN - Cina 2.216
UA - Ucraina 1.968
SE - Svezia 1.383
FR - Francia 978
IT - Italia 953
DE - Germania 947
FI - Finlandia 541
ES - Italia 144
TR - Turchia 127
BE - Belgio 114
VN - Vietnam 110
NL - Olanda 96
CA - Canada 60
RU - Federazione Russa 33
IN - India 31
EU - Europa 29
AU - Australia 23
IL - Israele 18
BG - Bulgaria 17
JP - Giappone 16
RO - Romania 15
IR - Iran 13
GR - Grecia 12
CZ - Repubblica Ceca 10
HU - Ungheria 9
PL - Polonia 9
CL - Cile 8
HR - Croazia 8
AT - Austria 7
HK - Hong Kong 7
NZ - Nuova Zelanda 7
SA - Arabia Saudita 7
CH - Svizzera 6
DK - Danimarca 6
AR - Argentina 5
BR - Brasile 5
EE - Estonia 5
PT - Portogallo 5
TW - Taiwan 5
ID - Indonesia 4
LU - Lussemburgo 4
MK - Macedonia 4
AZ - Azerbaigian 3
EG - Egitto 3
IQ - Iraq 3
KR - Corea 3
PH - Filippine 3
RS - Serbia 3
SI - Slovenia 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AE - Emirati Arabi Uniti 2
AM - Armenia 2
BO - Bolivia 2
CO - Colombia 2
DO - Repubblica Dominicana 2
EC - Ecuador 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
MA - Marocco 2
MD - Moldavia 2
MX - Messico 2
MY - Malesia 2
NG - Nigeria 2
PA - Panama 2
PK - Pakistan 2
SG - Singapore 2
UZ - Uzbekistan 2
ZA - Sudafrica 2
A1 - Anonimo 1
AL - Albania 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CY - Cipro 1
FK - Isole Falkland (Malvinas) 1
JM - Giamaica 1
LK - Sri Lanka 1
LV - Lettonia 1
MM - Myanmar 1
MS - Montserrat 1
MT - Malta 1
NO - Norvegia 1
SK - Slovacchia (Repubblica Slovacca) 1
TH - Thailandia 1
TN - Tunisia 1
Totale 44.929
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Città #
Southend 5.442
Menlo Park 4.976
Fairfield 3.536
Dublin 2.909
Chandler 1.872
Ashburn 1.753
Woodbridge 1.705
Jacksonville 1.686
Houston 1.518
Wilmington 1.365
Seattle 1.291
Cambridge 1.186
Ann Arbor 974
Princeton 671
Nanjing 535
Beijing 487
Siena 363
Boardman 234
Helsinki 220
San Mateo 203
Nanchang 198
San Diego 197
New York 183
Shenyang 144
Málaga 127
Hebei 113
Izmir 99
Tianjin 97
Dong Ket 96
Kunming 91
Düsseldorf 86
Changsha 85
Lancaster 73
Venezia 71
Shanghai 68
Brussels 64
Jiaxing 58
London 58
Norwalk 55
Dearborn 54
Jinan 49
Washington 48
Waanrode 47
Hangzhou 46
Ningbo 38
San Francisco 38
Toronto 38
Zhengzhou 37
Milan 33
Mestre 26
Rome 24
Los Angeles 23
Redwood City 23
Renton 21
Taizhou 21
Falls Church 20
Guangzhou 19
Phoenix 19
Florence 18
Fremont 18
Lanzhou 18
Sofia 17
Philadelphia 16
Haikou 14
Hefei 14
Tokyo 14
Changchun 13
Hounslow 13
Saint Petersburg 13
Amsterdam 12
Auburn Hills 11
Fuzhou 11
Kilburn 11
St Louis 11
Tappahannock 11
Madrid 9
Bonndorf 8
Budapest 8
Edinburgh 8
Frankfurt am Main 8
Melbourne 8
Prescot 8
Zagreb 8
Chicago 7
Groningen 7
Leawood 7
Redmond 7
Riyadh 7
Zanjan 7
Auckland 6
Canberra 6
Chiswick 6
Falkenstein 6
Indiana 6
Montreal 6
Prague 6
Sydney 6
Warsaw 6
Berlin 5
Bologna 5
Totale 35.919
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Nome #
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 298
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 278
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 270
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 240
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 235
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 219
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 213
Cerebellum and neuropsychiatric disorders: insights from ARSACS 211
Two novel HTRA1 mutations in a European CARASIL patient. 210
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 208
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 204
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 200
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 199
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 199
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 192
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 191
Temporal lobe abnormalities in neurosyphilis. 189
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 189
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 188
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 187
Typical pathological changes of CADASIL in the optic nerve 186
Visual System Involvement in CADASIL. 185
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 184
A case of dystonia with onset during pregnancy 184
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 184
null 182
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 181
Typical pathological changes of CADASIL in the optic nerve 181
Homozygosity and severity of phenotypic presentation in a CADASIL family 181
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 180
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 180
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 179
Primary familial brain calcification: Genetic analysis and clinical spectrum. 179
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 179
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 179
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 178
null 177
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 177
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 175
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 173
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 173
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 173
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 172
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 172
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 171
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 171
Imaging of the thymus in myotonic dystrophy type 1 171
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 170
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 170
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression 169
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 169
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 168
Congenital myopathies: Clinical phenotypes and new diagnostic tools 168
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 167
Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed 167
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 165
null 165
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 164
First report of an Iraqi Kurdish CADASIL patient. 164
Using a simplified trail making test B to assess visuo-spatial and sequencing abilities in hereditary spinocerebellar ataxias (SCA) 164
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 164
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 163
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 163
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 162
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case 162
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 161
Vitamin-E serum level in LHON patients 161
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 161
A Rett syndrome MECP2 mutation that causes mental retardation in men 160
Wernicke Encephalopathy After Gastrointestinal Surgery for Cancer: Causes of Diagnostic Failure or Delay. 158
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 157
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 156
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 156
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 155
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 155
Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis 155
null 155
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 154
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 154
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 154
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 154
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 154
MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis. 153
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 153
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption [3] 153
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 152
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 152
Vitamin E serum levels in Rett syndrome 151
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 151
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 151
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 150
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 150
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 149
Wernicke Syndrome: Seven case reports. 149
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 149
Clinical, familial, and neuroimaging features of CADASIL-like patients 149
Update on Several/Certain Adult-Onset Genetic Leukoencephalopathies: Clinical Signs and Molecular Confirmation. 149
null 146
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 146
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 146
Totale 17.470
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Categoria #
all - tutte 118.889
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 118.889
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20192.702 0 0 0 0 0 0 0 0 0 0 1.417 1.285
2019/20209.540 1.227 347 773 1.586 682 724 763 1.127 855 712 215 529
2020/20216.383 288 716 167 578 382 744 319 1.018 709 419 624 419
2021/20224.353 274 630 295 230 279 107 232 153 216 452 473 1.012
2022/20236.361 409 396 940 877 668 1.271 80 555 668 177 208 112
2023/20243.804 181 87 376 140 127 1.249 1.429 133 26 48 8 0
Totale 45.418