IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 26.314
EU - Europa 17.012
AS - Asia 2.966
AF - Africa 32
Continente sconosciuto - Info sul continente non disponibili 32
OC - Oceania 32
SA - Sud America 28
Totale 46.416
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Nazione #
US - Stati Uniti d'America 26.237
GB - Regno Unito 5.834
IE - Irlanda 2.923
CN - Cina 2.233
UA - Ucraina 1.973
SE - Svezia 1.385
IT - Italia 1.007
FR - Francia 980
DE - Germania 960
RU - Federazione Russa 855
FI - Finlandia 556
SG - Singapore 348
ES - Italia 145
TR - Turchia 128
BE - Belgio 120
VN - Vietnam 110
NL - Olanda 99
CA - Canada 63
CZ - Repubblica Ceca 41
IN - India 32
EU - Europa 29
AU - Australia 25
CI - Costa d'Avorio 20
IL - Israele 18
BG - Bulgaria 17
JP - Giappone 16
RO - Romania 15
GR - Grecia 13
IR - Iran 13
PL - Polonia 10
CL - Cile 9
HR - Croazia 9
HU - Ungheria 9
SA - Arabia Saudita 8
AT - Austria 7
HK - Hong Kong 7
NZ - Nuova Zelanda 7
PT - Portogallo 7
CH - Svizzera 6
DK - Danimarca 6
AR - Argentina 5
BR - Brasile 5
EE - Estonia 5
MX - Messico 5
TW - Taiwan 5
AZ - Azerbaigian 4
DO - Repubblica Dominicana 4
EG - Egitto 4
ID - Indonesia 4
KG - Kirghizistan 4
KZ - Kazakistan 4
LU - Lussemburgo 4
MD - Moldavia 4
MK - Macedonia 4
MY - Malesia 4
CO - Colombia 3
IQ - Iraq 3
KR - Corea 3
LA - Repubblica Popolare Democratica del Laos 3
LT - Lituania 3
MA - Marocco 3
PH - Filippine 3
RS - Serbia 3
SI - Slovenia 3
UZ - Uzbekistan 3
A2 - ???statistics.table.value.countryCode.A2??? 2
AE - Emirati Arabi Uniti 2
AM - Armenia 2
BO - Bolivia 2
EC - Ecuador 2
LV - Lettonia 2
NG - Nigeria 2
NO - Norvegia 2
PA - Panama 2
PK - Pakistan 2
SK - Slovacchia (Repubblica Slovacca) 2
ZA - Sudafrica 2
A1 - Anonimo 1
AL - Albania 1
BN - Brunei Darussalam 1
BS - Bahamas 1
BY - Bielorussia 1
CY - Cipro 1
FK - Isole Falkland (Malvinas) 1
JM - Giamaica 1
KH - Cambogia 1
LK - Sri Lanka 1
MM - Myanmar 1
MS - Montserrat 1
MT - Malta 1
PE - Perù 1
TH - Thailandia 1
TJ - Tagikistan 1
TN - Tunisia 1
Totale 46.416
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Città #
Southend 5.442
Menlo Park 4.976
Fairfield 3.536
Dublin 2.910
Chandler 1.872
Ashburn 1.762
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 489
Siena 364
Boardman 239
Helsinki 235
Singapore 222
San Mateo 203
Nanchang 198
San Diego 197
New York 184
Shenyang 144
Moscow 142
Málaga 127
Hebei 113
Izmir 99
Tianjin 97
Dong Ket 96
Kunming 91
Düsseldorf 86
Changsha 85
Lancaster 73
Venezia 71
Brussels 70
Shanghai 70
London 61
Jiaxing 58
Norwalk 55
Dearborn 54
Jinan 49
Washington 49
Waanrode 47
Hangzhou 46
Toronto 39
Ningbo 38
San Francisco 38
Zhengzhou 37
Milan 35
Los Angeles 32
Rome 28
Mestre 26
Redwood City 23
Brno 21
Renton 21
Taizhou 21
Abidjan 20
Falls Church 20
Florence 19
Guangzhou 19
Phoenix 19
Fremont 18
Lanzhou 18
Dallas 17
Sofia 17
Philadelphia 16
Amsterdam 14
Haikou 14
Hefei 14
Tokyo 14
Changchun 13
Hounslow 13
Saint Petersburg 13
Olomouc 12
Auburn Hills 11
Bologna 11
Fuzhou 11
Kilburn 11
Munich 11
St Louis 11
Tappahannock 11
Frankfurt am Main 10
Madrid 9
Melbourne 9
Zagreb 9
Bonndorf 8
Budapest 8
Edinburgh 8
Livorno 8
Prescot 8
Riyadh 8
Chicago 7
Groningen 7
Leawood 7
Palermo 7
Redmond 7
Zanjan 7
Auckland 6
Totale 36.402
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Nome #
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 302
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 283
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 277
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 250
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 240
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 225
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 218
Cerebellum and neuropsychiatric disorders: insights from ARSACS 215
Two novel HTRA1 mutations in a European CARASIL patient. 214
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 212
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 210
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 205
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 204
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 204
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 197
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 194
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 194
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 193
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 193
Temporal lobe abnormalities in neurosyphilis 192
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 192
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 191
Typical pathological changes of CADASIL in the optic nerve 190
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 189
Visual System Involvement in CADASIL. 189
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 188
A case of dystonia with onset during pregnancy 188
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 187
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 187
Homozygosity and severity of phenotypic presentation in a CADASIL family 186
Typical pathological changes of CADASIL in the optic nerve 185
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 185
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 185
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 184
Primary familial brain calcification: Genetic analysis and clinical spectrum. 183
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 183
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 182
null 182
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 181
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 181
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 180
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 179
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 179
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 178
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 178
null 177
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 177
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 176
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 175
Imaging of the thymus in myotonic dystrophy type 1 175
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 174
Congenital myopathies: Clinical phenotypes and new diagnostic tools 174
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 174
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 173
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 171
Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed 171
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression 170
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 169
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 168
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 168
Using a simplified trail making test B to assess visuo-spatial and sequencing abilities in hereditary spinocerebellar ataxias (SCA) 167
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 167
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 167
A Rett syndrome MECP2 mutation that causes mental retardation in men 166
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 166
First report of an Iraqi Kurdish CADASIL patient. 166
null 165
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case 165
Vitamin-E serum level in LHON patients 164
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 163
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 162
Wernicke Encephalopathy After Gastrointestinal Surgery for Cancer: Causes of Diagnostic Failure or Delay. 162
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 162
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 161
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 160
Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis 160
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 159
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 158
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 158
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 158
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 157
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 157
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 157
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 157
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 156
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 156
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 156
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 156
MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis. 155
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 155
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 155
null 155
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 155
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 153
Vitamin E serum levels in Rett syndrome 153
Plasma acth and cortisol levels in benzodiazepine treated rats 153
Wernicke Syndrome: Seven case reports. 152
Clinical, familial, and neuroimaging features of CADASIL-like patients 152
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 152
Update on Several/Certain Adult-Onset Genetic Leukoencephalopathies: Clinical Signs and Molecular Confirmation. 152
Totale 17.976
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Categoria #
all - tutte 130.446
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 130.446
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20207.966 0 0 773 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
2023/20244.097 181 87 376 140 127 1.249 1.429 133 26 48 20 281
2024/20251.197 145 492 560 0 0 0 0 0 0 0 0 0
Totale 46.908