IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 26.252
EU - Europa 16.587
AS - Asia 2.830
Continente sconosciuto - Info sul continente non disponibili 32
OC - Oceania 31
SA - Sud America 27
AF - Africa 12
Totale 45.771
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Nazione #
US - Stati Uniti d'America 26.181
GB - Regno Unito 5.830
IE - Irlanda 2.923
CN - Cina 2.225
UA - Ucraina 1.972
SE - Svezia 1.383
FR - Francia 978
IT - Italia 978
DE - Germania 956
FI - Finlandia 548
RU - Federazione Russa 498
SG - Singapore 232
ES - Italia 144
TR - Turchia 127
BE - Belgio 114
VN - Vietnam 110
NL - Olanda 98
CA - Canada 60
CZ - Repubblica Ceca 41
IN - India 31
EU - Europa 29
AU - Australia 24
IL - Israele 18
BG - Bulgaria 17
JP - Giappone 16
RO - Romania 15
IR - Iran 13
GR - Grecia 12
HU - Ungheria 9
PL - Polonia 9
CL - Cile 8
HR - Croazia 8
SA - Arabia Saudita 8
AT - Austria 7
HK - Hong Kong 7
NZ - Nuova Zelanda 7
CH - Svizzera 6
DK - Danimarca 6
AR - Argentina 5
BR - Brasile 5
EE - Estonia 5
PT - Portogallo 5
TW - Taiwan 5
DO - Repubblica Dominicana 4
ID - Indonesia 4
LU - Lussemburgo 4
MK - Macedonia 4
AZ - Azerbaigian 3
CO - Colombia 3
EG - Egitto 3
IQ - Iraq 3
KR - Corea 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
KG - Kirghizistan 2
KZ - Kazakistan 2
LA - Repubblica Popolare Democratica del Laos 2
LT - Lituania 2
MD - Moldavia 2
MX - Messico 2
MY - Malesia 2
NG - Nigeria 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
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
PE - Perù 1
TH - Thailandia 1
TN - Tunisia 1
Totale 45.771
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Città #
Southend 5.442
Menlo Park 4.976
Fairfield 3.536
Dublin 2.910
Chandler 1.872
Ashburn 1.758
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 363
Boardman 239
Helsinki 227
San Mateo 203
Nanchang 198
San Diego 197
New York 184
Singapore 151
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
Shanghai 69
Brussels 64
London 59
Jiaxing 58
Norwalk 55
Dearborn 54
Jinan 49
Washington 48
Waanrode 47
Hangzhou 46
Ningbo 38
San Francisco 38
Toronto 38
Zhengzhou 37
Milan 35
Rome 28
Mestre 26
Los Angeles 24
Redwood City 23
Brno 21
Renton 21
Taizhou 21
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
Fuzhou 11
Kilburn 11
St Louis 11
Tappahannock 11
Munich 10
Madrid 9
Melbourne 9
Bonndorf 8
Budapest 8
Edinburgh 8
Frankfurt am Main 8
Prescot 8
Riyadh 8
Zagreb 8
Chicago 7
Groningen 7
Leawood 7
Palermo 7
Redmond 7
Zanjan 7
Auckland 6
Canberra 6
Chiswick 6
Falkenstein 6
Totale 36.274
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Nome #
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 301
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 281
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 272
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 245
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 237
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 221
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 216
Cerebellum and neuropsychiatric disorders: insights from ARSACS 212
Two novel HTRA1 mutations in a European CARASIL patient. 212
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 210
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 206
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 203
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 202
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 200
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 193
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 192
Temporal lobe abnormalities in neurosyphilis 191
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 191
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 190
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 189
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 188
Visual System Involvement in CADASIL. 188
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 187
Typical pathological changes of CADASIL in the optic nerve 187
A case of dystonia with onset during pregnancy 186
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 186
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 183
Typical pathological changes of CADASIL in the optic nerve 183
Homozygosity and severity of phenotypic presentation in a CADASIL family 183
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 182
Primary familial brain calcification: Genetic analysis and clinical spectrum. 182
null 182
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 181
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 181
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 181
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 180
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 180
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 179
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 179
null 177
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 177
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 177
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 176
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 175
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 175
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 175
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 173
Imaging of the thymus in myotonic dystrophy type 1 173
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 172
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 172
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 171
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 171
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression 170
Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed 169
Congenital myopathies: Clinical phenotypes and new diagnostic tools 169
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 168
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 168
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 167
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 167
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 166
First report of an Iraqi Kurdish CADASIL patient. 166
Using a simplified trail making test B to assess visuo-spatial and sequencing abilities in hereditary spinocerebellar ataxias (SCA) 166
null 165
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 165
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 165
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case 164
A Rett syndrome MECP2 mutation that causes mental retardation in men 162
Wernicke Encephalopathy After Gastrointestinal Surgery for Cancer: Causes of Diagnostic Failure or Delay. 162
Vitamin-E serum level in LHON patients 162
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 161
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 161
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 160
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 159
Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis 158
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 157
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 157
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 157
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 157
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 156
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 156
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 156
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 156
MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis. 155
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 155
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 155
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 155
null 155
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 155
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 153
Vitamin E serum levels in Rett syndrome 153
Wernicke Syndrome: Seven case reports. 152
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 152
Update on Several/Certain Adult-Onset Genetic Leukoencephalopathies: Clinical Signs and Molecular Confirmation. 152
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 151
Clinical, familial, and neuroimaging features of CADASIL-like patients 151
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 151
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 150
Plasma acth and cortisol levels in benzodiazepine treated rats 150
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 150
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy 149
Totale 17.722
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Categoria #
all - tutte 127.267
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 127.267
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20208.313 0 347 773 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
2023/20244.097 181 87 376 140 127 1.249 1.429 133 26 48 20 281
2024/2025549 145 404 0 0 0 0 0 0 0 0 0 0
Totale 46.260