IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 36.091
EU - Europa 21.801
AS - Asia 11.818
SA - Sud America 2.040
AF - Africa 581
OC - Oceania 41
Continente sconosciuto - Info sul continente non disponibili 35
Totale 72.407
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Nazione #
US - Stati Uniti d'America 35.741
GB - Regno Unito 6.009
CN - Cina 4.494
RU - Federazione Russa 4.041
SG - Singapore 3.604
IE - Irlanda 2.907
UA - Ucraina 1.992
BR - Brasile 1.693
SE - Svezia 1.410
FR - Francia 1.367
IT - Italia 1.300
DE - Germania 1.192
VN - Vietnam 943
HK - Hong Kong 856
FI - Finlandia 730
KR - Corea 597
ZA - Sudafrica 305
BD - Bangladesh 271
IN - India 230
CA - Canada 191
ES - Italia 186
TR - Turchia 179
NL - Olanda 157
BE - Belgio 130
IQ - Iraq 120
AR - Argentina 115
NG - Nigeria 96
JP - Giappone 91
MX - Messico 81
PL - Polonia 80
PK - Pakistan 62
EC - Ecuador 51
ID - Indonesia 49
CZ - Repubblica Ceca 45
VE - Venezuela 41
SA - Arabia Saudita 40
AT - Austria 39
CO - Colombia 36
MA - Marocco 36
CL - Cile 33
AU - Australia 32
EU - Europa 29
EG - Egitto 28
IL - Israele 26
CI - Costa d'Avorio 25
JO - Giordania 24
BG - Bulgaria 23
KE - Kenya 23
MY - Malesia 23
UZ - Uzbekistan 23
LT - Lituania 22
AZ - Azerbaigian 21
DZ - Algeria 21
UY - Uruguay 21
PY - Paraguay 20
RO - Romania 20
PH - Filippine 19
HR - Croazia 15
IR - Iran 15
GR - Grecia 14
JM - Giamaica 14
KZ - Kazakistan 14
NP - Nepal 14
PE - Perù 14
PT - Portogallo 14
AE - Emirati Arabi Uniti 13
TN - Tunisia 13
CH - Svizzera 12
BO - Bolivia 11
HU - Ungheria 11
KG - Kirghizistan 11
AL - Albania 10
DO - Repubblica Dominicana 10
ET - Etiopia 10
DK - Danimarca 9
LB - Libano 9
MD - Moldavia 9
OM - Oman 9
EE - Estonia 8
GT - Guatemala 8
LV - Lettonia 8
NZ - Nuova Zelanda 8
SK - Slovacchia (Repubblica Slovacca) 8
TT - Trinidad e Tobago 8
AM - Armenia 7
PS - Palestinian Territory 7
SN - Senegal 7
BB - Barbados 6
LU - Lussemburgo 6
MK - Macedonia 6
PA - Panama 6
RS - Serbia 6
SI - Slovenia 6
KW - Kuwait 5
TH - Thailandia 5
TW - Taiwan 5
BS - Bahamas 4
BY - Bielorussia 4
GE - Georgia 4
HN - Honduras 4
Totale 72.327
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Città #
Southend 5.406
Menlo Park 4.874
Dallas 4.259
Fairfield 3.519
Dublin 2.893
Ashburn 2.285
Singapore 2.012
Chandler 1.870
Woodbridge 1.701
Jacksonville 1.681
Houston 1.537
Wilmington 1.361
Seattle 1.298
Cambridge 1.185
Santa Clara 1.094
Moscow 1.078
Beijing 1.045
Ann Arbor 968
San Jose 867
Hong Kong 828
Princeton 669
Hefei 657
Seoul 593
Nanjing 537
The Dalles 434
Siena 376
Los Angeles 359
Helsinki 334
New York 324
Lauterbourg 287
Ho Chi Minh City 276
Johannesburg 269
Boardman 242
Hanoi 232
San Mateo 203
San Diego 200
Nanchang 198
Buffalo 185
Council Bluffs 179
São Paulo 162
Shenyang 148
Munich 142
Málaga 127
Hebei 112
Tianjin 104
Izmir 99
London 99
Columbus 97
Dong Ket 96
Shanghai 96
Changsha 94
Kunming 90
Düsseldorf 86
Abuja 85
Orem 84
Brussels 80
Tokyo 80
Lancaster 76
Toronto 76
Turku 75
Venezia 71
San Francisco 69
Rome 68
Warsaw 67
Redondo Beach 66
Milan 59
Jiaxing 58
Jinan 56
Norwalk 56
Frankfurt am Main 55
Belo Horizonte 54
Dearborn 54
Rio de Janeiro 54
Chennai 52
Washington 52
Hangzhou 50
Brooklyn 49
Zhengzhou 48
Waanrode 47
Phoenix 46
Chicago 44
Amsterdam 42
Manchester 42
Montreal 42
Bengaluru 40
Guangzhou 40
Stockholm 40
Atlanta 39
Haiphong 38
Florence 37
Ningbo 37
Da Nang 34
Denver 34
Curitiba 33
Baghdad 31
Boston 30
Brasília 30
Nuremberg 28
Dhaka 26
Mestre 26
Totale 52.267
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Nome #
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 484
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 396
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 395
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 383
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 381
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 373
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 370
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 369
A Rett syndrome MECP2 mutation that causes mental retardation in men 367
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 364
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 360
A case of dystonia with onset during pregnancy 358
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 357
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 353
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 344
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 343
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 340
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 338
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 334
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 332
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 328
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 328
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 328
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 327
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 327
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 322
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 321
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 317
Cerebellum and neuropsychiatric disorders: insights from ARSACS 316
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 316
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 312
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 310
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 308
Two novel HTRA1 mutations in a European CARASIL patient. 292
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 289
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 289
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 289
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 285
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 282
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 282
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 281
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 281
Typical pathological changes of CADASIL in the optic nerve 279
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 278
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 278
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 276
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 276
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 276
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 275
Congenital myopathies: Clinical phenotypes and new diagnostic tools 275
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 274
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis 274
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient 272
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 271
Homozygosity and severity of phenotypic presentation in a CADASIL family 271
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 270
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 270
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 268
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 268
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 268
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 265
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 265
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 262
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 261
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 260
MECP2 mutation in male patients with non-specific X-linked mental retardation 260
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 258
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 257
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 257
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 254
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 254
Temporal lobe abnormalities in neurosyphilis 253
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 253
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 252
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 251
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms 250
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. 250
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome 249
Visual System Involvement in CADASIL. 249
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. 248
Genetic leukoencephalopaties with unknown metabolic pathogenesis 248
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 247
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 246
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. 246
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 246
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. 245
CADASIL and cerebrovascular diseases 245
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 245
Imaging of the thymus in myotonic dystrophy type 1 245
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 244
Clinical, familial, and neuroimaging features of CADASIL-like patients 244
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 244
Molecular genetic study of Leber’s hereditary optic neurophaty (LHON): mutation screening by sequencing of ND1, ND4, ND%, ND6 genes 243
Acute visual loss due to anterior ischemic optic neuropathy as first symptom in a patient with CADASIL 242
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 241
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system 240
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 240
Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients 240
Autoimmunitary changes in adrenoleukodystrophy and adrenomyeloneuropathy 239
Hereditary cerebral small vessel diseases: A review. 238
Totale 28.966
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Categoria #
all - tutte 207.092
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 207.092
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021417 0 0 0 0 0 0 0 0 0 0 0 417
2021/20224.335 271 627 295 228 279 107 231 152 215 449 473 1.008
2022/20236.337 408 393 933 873 668 1.265 79 554 668 176 208 112
2023/20244.062 181 86 375 139 126 1.241 1.407 133 26 48 20 280
2024/20258.138 145 489 697 457 995 389 239 462 676 341 883 2.365
2025/202619.354 1.571 3.435 2.893 2.036 3.681 689 1.973 602 603 928 474 469
Totale 72.898