IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 27.675
EU - Europa 17.638
AS - Asia 4.024
SA - Sud America 494
AF - Africa 59
OC - Oceania 33
Continente sconosciuto - Info sul continente non disponibili 32
Totale 49.955
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Nazione #
US - Stati Uniti d'America 27.571
GB - Regno Unito 5.851
IE - Irlanda 2.924
CN - Cina 2.322
UA - Ucraina 1.978
SE - Svezia 1.386
RU - Federazione Russa 1.224
SG - Singapore 1.202
IT - Italia 1.110
DE - Germania 1.003
FR - Francia 981
FI - Finlandia 569
BR - Brasile 425
ES - Italia 145
TR - Turchia 137
BE - Belgio 130
NL - Olanda 114
VN - Vietnam 112
CA - Canada 75
CZ - Repubblica Ceca 42
IN - India 37
EU - Europa 29
AU - Australia 26
HK - Hong Kong 25
AT - Austria 24
CI - Costa d'Avorio 22
JP - Giappone 22
BG - Bulgaria 21
IL - Israele 21
AR - Argentina 19
RO - Romania 15
GR - Grecia 14
IQ - Iraq 14
MX - Messico 14
EC - Ecuador 13
IR - Iran 13
MA - Marocco 12
PL - Polonia 12
UZ - Uzbekistan 12
CL - Cile 11
AZ - Azerbaigian 10
HR - Croazia 10
PK - Pakistan 10
PT - Portogallo 10
CO - Colombia 9
HU - Ungheria 9
SA - Arabia Saudita 9
CH - Svizzera 8
EE - Estonia 8
KG - Kirghizistan 8
AM - Armenia 7
DK - Danimarca 7
NZ - Nuova Zelanda 7
ZA - Sudafrica 7
BD - Bangladesh 6
KZ - Kazakistan 6
LU - Lussemburgo 6
PH - Filippine 6
VE - Venezuela 6
LT - Lituania 5
LV - Lettonia 5
MD - Moldavia 5
MK - Macedonia 5
TW - Taiwan 5
DO - Repubblica Dominicana 4
EG - Egitto 4
ID - Indonesia 4
MY - Malesia 4
PA - Panama 4
AE - Emirati Arabi Uniti 3
AL - Albania 3
BO - Bolivia 3
KE - Kenya 3
KR - Corea 3
LA - Repubblica Popolare Democratica del Laos 3
LK - Sri Lanka 3
NG - Nigeria 3
NP - Nepal 3
PE - Perù 3
RS - Serbia 3
SI - Slovenia 3
SK - Slovacchia (Repubblica Slovacca) 3
SN - Senegal 3
A2 - ???statistics.table.value.countryCode.A2??? 2
BY - Bielorussia 2
CY - Cipro 2
DZ - Algeria 2
GE - Georgia 2
JM - Giamaica 2
JO - Giordania 2
NO - Norvegia 2
OM - Oman 2
PY - Paraguay 2
TH - Thailandia 2
TN - Tunisia 2
UY - Uruguay 2
A1 - Anonimo 1
AO - Angola 1
BN - Brunei Darussalam 1
BS - Bahamas 1
Totale 49.943
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Città #
Southend 5.442
Menlo Park 4.976
Fairfield 3.536
Dublin 2.911
Chandler 1.872
Ashburn 1.787
Woodbridge 1.705
Jacksonville 1.686
Houston 1.518
Wilmington 1.365
Seattle 1.291
Cambridge 1.186
Santa Clara 1.022
Ann Arbor 974
Princeton 671
Nanjing 536
Beijing 491
Singapore 415
Siena 370
Helsinki 247
Boardman 242
San Mateo 203
Nanchang 198
San Diego 197
New York 188
Shenyang 144
Moscow 142
Málaga 127
Hebei 113
Council Bluffs 106
Izmir 99
Tianjin 99
Dong Ket 96
Kunming 91
Düsseldorf 86
Changsha 85
Brussels 80
Shanghai 77
Lancaster 73
London 71
Venezia 71
Jiaxing 58
Norwalk 55
Dearborn 54
Jinan 51
Toronto 51
Los Angeles 49
Washington 49
Rome 47
Waanrode 47
Hangzhou 46
Milan 43
Zhengzhou 40
Ningbo 38
San Francisco 38
São Paulo 38
Florence 32
Mestre 26
Guangzhou 23
Redwood City 23
The Dalles 23
Abidjan 22
Taizhou 22
Brno 21
Renton 21
Falls Church 20
Phoenix 20
Sofia 20
Fremont 18
Lanzhou 18
Munich 18
Amsterdam 17
Dallas 17
Hong Kong 17
Philadelphia 16
Falkenstein 15
Frankfurt am Main 15
Tokyo 15
Bologna 14
Haikou 14
Hefei 14
Nuremberg 14
Vienna 14
Belo Horizonte 13
Changchun 13
Hounslow 13
Rio de Janeiro 13
Saint Petersburg 13
Olomouc 12
Tashkent 12
Auburn Hills 11
Fuzhou 11
Kilburn 11
St Louis 11
Tappahannock 11
Brasília 10
Curitiba 10
Zagreb 10
Madrid 9
Melbourne 9
Totale 37.994
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Nome #
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 311
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 297
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 293
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 264
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 251
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 239
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 236
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 231
Cerebellum and neuropsychiatric disorders: insights from ARSACS 230
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 224
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 224
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 222
Two novel HTRA1 mutations in a European CARASIL patient. 221
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 221
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 218
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 214
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 210
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 208
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 207
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 205
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 203
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 203
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 203
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 202
A case of dystonia with onset during pregnancy 201
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 201
Typical pathological changes of CADASIL in the optic nerve 201
Temporal lobe abnormalities in neurosyphilis 200
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 200
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 199
Visual System Involvement in CADASIL. 199
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 198
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 198
Homozygosity and severity of phenotypic presentation in a CADASIL family 197
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 195
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 194
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 193
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 192
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 192
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 191
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 191
Typical pathological changes of CADASIL in the optic nerve 190
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 190
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 190
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 190
Primary familial brain calcification: Genetic analysis and clinical spectrum. 189
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 189
Imaging of the thymus in myotonic dystrophy type 1 189
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 188
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 188
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 187
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 187
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 187
Congenital myopathies: Clinical phenotypes and new diagnostic tools 186
A Rett syndrome MECP2 mutation that causes mental retardation in men 185
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 184
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 184
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 183
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression 182
null 182
Using a simplified trail making test B to assess visuo-spatial and sequencing abilities in hereditary spinocerebellar ataxias (SCA) 181
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 179
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 178
Neuroendocrine lung cancer in a patient with limbic encephalopathy due to anti-Hu antibodies: A rare association not to be missed 178
null 177
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 177
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 177
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 176
Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families 175
First report of an Iraqi Kurdish CADASIL patient. 174
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 173
Vitamin-E serum level in LHON patients 172
Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case 172
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 171
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 170
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 170
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 170
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 169
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 169
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 168
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 168
Wernicke Encephalopathy After Gastrointestinal Surgery for Cancer: Causes of Diagnostic Failure or Delay. 168
Leber's hereditary optic neuropathy associated with cocaine, ecstasy and telithromycin consumption 168
Pulsating enophthalmos in an adult patient with type 1 neurofibromatosis 168
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 168
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 167
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 167
Acute inflammatory neuropathy in Charcot-Marie-Tooth disease 167
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 167
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 167
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 167
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 166
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 166
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. 165
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis 165
null 165
MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis. 164
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 164
Hereditary cerebral small vessel diseases: A review. 162
MECP2 mutation in male patients with non-specific X-linked mental retardation 161
Totale 19.225
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Categoria #
all - tutte 151.846
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 151.846
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.456 0 0 0 0 0 0 0 0 0 712 215 529
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
2024/20254.736 145 492 710 468 1.001 391 239 464 679 147 0 0
Totale 50.447