IRIS
DOTTI, MARIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 36.595
EU - Europa 23.261
AS - Asia 11.834
SA - Sud America 2.064
AF - Africa 583
OC - Oceania 41
Continente sconosciuto - Info sul continente non disponibili 35
Totale 74.413
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 36.232
GB - Regno Unito 6.009
CN - Cina 4.501
RU - Federazione Russa 4.041
SG - Singapore 3.607
IE - Irlanda 2.907
IT - Italia 2.749
UA - Ucraina 1.992
BR - Brasile 1.702
SE - Svezia 1.410
FR - Francia 1.369
DE - Germania 1.192
VN - Vietnam 944
HK - Hong Kong 856
FI - Finlandia 730
KR - Corea 597
ZA - Sudafrica 306
BD - Bangladesh 272
IN - India 230
CA - Canada 200
ES - Italia 189
TR - Turchia 179
NL - Olanda 157
BE - Belgio 130
IQ - Iraq 120
AR - Argentina 119
NG - Nigeria 96
JP - Giappone 92
MX - Messico 82
PL - Polonia 80
PK - Pakistan 62
EC - Ecuador 52
ID - Indonesia 49
CZ - Repubblica Ceca 45
VE - Venezuela 42
SA - Arabia Saudita 40
AT - Austria 39
CO - Colombia 39
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
PY - Paraguay 24
BG - Bulgaria 23
KE - Kenya 23
MY - Malesia 23
UZ - Uzbekistan 23
LT - Lituania 22
UY - Uruguay 22
AZ - Azerbaigian 21
DZ - Algeria 21
RO - Romania 20
PH - Filippine 19
PT - Portogallo 17
HR - Croazia 15
IR - Iran 15
NP - Nepal 15
GR - Grecia 14
JM - Giamaica 14
KZ - Kazakistan 14
PE - Perù 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
EE - Estonia 9
LB - Libano 9
MD - Moldavia 9
OM - Oman 9
GT - Guatemala 8
LV - Lettonia 8
NZ - Nuova Zelanda 8
RS - Serbia 8
SK - Slovacchia (Repubblica Slovacca) 8
TT - Trinidad e Tobago 8
AM - Armenia 7
BB - Barbados 7
PS - Palestinian Territory 7
SN - Senegal 7
TH - Thailandia 7
LU - Lussemburgo 6
MK - Macedonia 6
PA - Panama 6
SI - Slovenia 6
BS - Bahamas 5
HN - Honduras 5
KW - Kuwait 5
TW - Taiwan 5
BY - Bielorussia 4
GE - Georgia 4
Totale 74.331
Salva come PNG Salva come JPEG
Città #
Southend 5.406
Menlo Park 4.874
Dallas 4.261
Fairfield 3.519
Dublin 2.893
Ashburn 2.357
Singapore 2.013
Chandler 1.870
Woodbridge 1.701
Jacksonville 1.681
Houston 1.538
Wilmington 1.361
Seattle 1.299
Cambridge 1.185
Santa Clara 1.117
Moscow 1.078
Beijing 1.046
Ann Arbor 968
San Jose 929
Milan 885
Hong Kong 828
Princeton 669
Hefei 657
Seoul 593
Nanjing 537
The Dalles 434
Council Bluffs 413
Siena 376
Los Angeles 359
Helsinki 334
New York 326
Rome 321
Lauterbourg 287
Ho Chi Minh City 277
Johannesburg 269
Boardman 242
Hanoi 232
San Mateo 203
San Diego 200
Nanchang 198
Buffalo 185
São Paulo 163
Shenyang 148
Munich 142
Málaga 127
Hebei 112
Tianjin 104
Izmir 99
London 99
Columbus 98
Shanghai 97
Dong Ket 96
Changsha 94
Kunming 90
Figino 87
Düsseldorf 86
Abuja 85
Orem 84
Tokyo 81
Brussels 80
Toronto 77
Lancaster 76
Turku 75
Venezia 71
San Francisco 70
Warsaw 67
Redondo Beach 66
Turin 59
Jiaxing 58
Jinan 56
Norwalk 56
Frankfurt am Main 55
Belo Horizonte 54
Dearborn 54
Phoenix 54
Rio de Janeiro 54
Chennai 52
Washington 52
Hangzhou 50
Brooklyn 49
Florence 49
Zhengzhou 48
Chicago 47
Waanrode 47
Montreal 43
Amsterdam 42
Atlanta 42
Manchester 42
Bengaluru 40
Guangzhou 40
Stockholm 40
Haiphong 38
Ningbo 37
Da Nang 34
Denver 34
Curitiba 33
Baghdad 31
Boston 30
Brasília 30
Bologna 28
Totale 53.873
Salva come PNG Salva come JPEG
Nome #
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 485
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 403
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 402
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 392
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 386
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 380
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 379
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 376
A Rett syndrome MECP2 mutation that causes mental retardation in men 375
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 370
A case of dystonia with onset during pregnancy 363
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 362
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 360
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 359
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 345
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 345
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 342
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 340
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 339
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 338
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 337
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 335
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 332
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 330
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 329
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 328
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 327
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 327
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 323
Cerebellum and neuropsychiatric disorders: insights from ARSACS 322
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 322
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 321
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 318
Two novel HTRA1 mutations in a European CARASIL patient. 297
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 296
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 294
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 291
Typical pathological changes of CADASIL in the optic nerve 291
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 289
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 289
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 287
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 286
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 286
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 284
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 283
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 283
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 282
Congenital myopathies: Clinical phenotypes and new diagnostic tools 282
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 281
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 281
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis 280
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 279
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 279
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 277
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 277
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 277
Homozygosity and severity of phenotypic presentation in a CADASIL family 276
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 276
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 275
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 274
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient 274
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 271
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 271
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 271
MECP2 mutation in male patients with non-specific X-linked mental retardation 268
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 266
Temporal lobe abnormalities in neurosyphilis 264
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 263
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 263
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 262
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 262
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 261
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 260
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 260
Visual System Involvement in CADASIL. 259
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 256
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome 256
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms 256
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 254
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. 253
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 253
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. 251
CADASIL and cerebrovascular diseases 250
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 250
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. 250
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. 249
Genetic leukoencephalopaties with unknown metabolic pathogenesis 249
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 249
Imaging of the thymus in myotonic dystrophy type 1 249
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system 248
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 248
Molecular genetic study of Leber’s hereditary optic neurophaty (LHON): mutation screening by sequencing of ND1, ND4, ND%, ND6 genes 247
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 247
Clinical, familial, and neuroimaging features of CADASIL-like patients 246
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 246
Acute visual loss due to anterior ischemic optic neuropathy as first symptom in a patient with CADASIL 244
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 244
Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients 244
Autoimmunitary changes in adrenoleukodystrophy and adrenomyeloneuropathy 244
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 242
Totale 29.544
Salva come PNG Salva come JPEG
Categoria #
all - tutte 210.848
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 210.848
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/202620.922 1.571 3.435 2.893 2.036 3.681 689 1.973 602 603 928 474 2.037
2026/2027438 438 0 0 0 0 0 0 0 0 0 0 0
Totale 74.904