IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 37.820
EU - Europa 23.341
AS - Asia 11.901
SA - Sud America 2.066
AF - Africa 584
Continente sconosciuto - Info sul continente non disponibili 526
OC - Oceania 45
Totale 76.283
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Nazione #
US - Stati Uniti d'America 37.427
GB - Regno Unito 6.011
CN - Cina 4.513
RU - Federazione Russa 4.041
SG - Singapore 3.634
IE - Irlanda 2.907
IT - Italia 2.791
UA - Ucraina 1.992
BR - Brasile 1.702
SE - Svezia 1.434
FR - Francia 1.370
DE - Germania 1.193
VN - Vietnam 945
HK - Hong Kong 864
FI - Finlandia 731
KR - Corea 597
ZA - Sudafrica 306
BD - Bangladesh 286
IN - India 232
CA - Canada 212
ES - Italia 189
TR - Turchia 179
NL - Olanda 160
BE - Belgio 130
IQ - Iraq 120
AR - Argentina 119
NG - Nigeria 96
JP - Giappone 93
MX - Messico 85
PL - Polonia 80
PK - Pakistan 62
EC - Ecuador 52
ID - Indonesia 49
CZ - Repubblica Ceca 45
VE - Venezuela 43
SA - Arabia Saudita 40
AT - Austria 39
CO - Colombia 39
AU - Australia 36
MA - Marocco 36
CL - Cile 34
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
PH - Filippine 20
RO - Romania 20
JM - Giamaica 19
PT - Portogallo 17
CH - Svizzera 15
HR - Croazia 15
IR - Iran 15
NP - Nepal 15
GR - Grecia 14
KZ - Kazakistan 14
PE - Perù 14
AE - Emirati Arabi Uniti 13
TN - Tunisia 13
BO - Bolivia 11
DO - Repubblica Dominicana 11
HU - Ungheria 11
KG - Kirghizistan 11
TT - Trinidad e Tobago 11
AL - Albania 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
AM - Armenia 7
BB - Barbados 7
PS - Palestinian Territory 7
SN - Senegal 7
TH - Thailandia 7
LU - Lussemburgo 6
MK - Macedonia 6
NI - Nicaragua 6
PA - Panama 6
SI - Slovenia 6
BS - Bahamas 5
CR - Costa Rica 5
HN - Honduras 5
KW - Kuwait 5
PR - Porto Rico 5
Totale 75.702
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Città #
Southend 5.406
Menlo Park 4.874
Dallas 4.264
Fairfield 3.519
Dublin 2.893
Ashburn 2.504
Singapore 2.026
Chandler 1.870
Woodbridge 1.701
Jacksonville 1.682
Houston 1.544
Wilmington 1.361
Seattle 1.303
Cambridge 1.188
Santa Clara 1.186
Moscow 1.078
Beijing 1.050
Ann Arbor 968
San Jose 937
Milan 897
Hong Kong 835
Council Bluffs 698
Princeton 669
Hefei 657
Seoul 593
Nanjing 537
The Dalles 434
Siena 376
Los Angeles 367
North Bergen 345
New York 339
Helsinki 334
Rome 322
Lauterbourg 287
Ho Chi Minh City 277
Johannesburg 269
Boardman 243
Hanoi 232
San Mateo 203
San Diego 200
Nanchang 199
Buffalo 186
Columbus 163
São Paulo 163
Shenyang 148
Munich 142
Málaga 127
Hebei 112
Tianjin 104
London 101
Izmir 99
Shanghai 99
Dong Ket 96
Changsha 94
Kunming 90
Figino 89
Düsseldorf 86
Abuja 85
Orem 85
Tokyo 81
Brussels 80
Toronto 78
Lancaster 76
Turku 75
Venezia 71
San Francisco 70
Warsaw 67
Redondo Beach 66
Turin 59
Jiaxing 58
Norwalk 57
Frankfurt am Main 56
Jinan 56
Phoenix 55
Belo Horizonte 54
Chicago 54
Dearborn 54
Rio de Janeiro 54
Chennai 52
Washington 52
Brooklyn 51
Florence 50
Hangzhou 50
Zhengzhou 48
Atlanta 47
Waanrode 47
Montreal 44
Amsterdam 42
Manchester 42
Bengaluru 40
Boston 40
Guangzhou 40
Stockholm 40
Haiphong 38
Ningbo 37
Denver 36
Da Nang 34
Curitiba 33
Philadelphia 32
Baghdad 31
Totale 54.883
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Nome #
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 522
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 494
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 423
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 410
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 408
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 394
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 393
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 388
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 385
A Rett syndrome MECP2 mutation that causes mental retardation in men 379
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 372
A case of dystonia with onset during pregnancy 366
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 365
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 364
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 364
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 350
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 349
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 348
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 346
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 346
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 345
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 344
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 339
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 339
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 337
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 332
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 331
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 331
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 331
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 329
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 326
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 326
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 325
Cerebellum and neuropsychiatric disorders: insights from ARSACS 323
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 322
Two novel HTRA1 mutations in a European CARASIL patient. 313
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 298
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 297
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 295
Typical pathological changes of CADASIL in the optic nerve 295
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 294
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 293
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 292
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 290
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 290
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 290
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis 290
Congenital myopathies: Clinical phenotypes and new diagnostic tools 286
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 285
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 285
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 285
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 284
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 284
Homozygosity and severity of phenotypic presentation in a CADASIL family 282
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 282
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 282
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 281
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 279
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 279
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient 277
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 277
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 277
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 276
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 276
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 276
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 269
MECP2 mutation in male patients with non-specific X-linked mental retardation 269
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 267
Temporal lobe abnormalities in neurosyphilis 266
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 264
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 264
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 264
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 263
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 263
Visual System Involvement in CADASIL. 261
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms 260
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome 258
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 257
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 257
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 257
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation 256
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. 255
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 255
CADASIL and cerebrovascular diseases 254
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. 254
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 254
Imaging of the thymus in myotonic dystrophy type 1 254
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. 252
Genetic leukoencephalopaties with unknown metabolic pathogenesis 252
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 251
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system 250
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 250
Acute visual loss due to anterior ischemic optic neuropathy as first symptom in a patient with CADASIL 249
Molecular genetic study of Leber’s hereditary optic neurophaty (LHON): mutation screening by sequencing of ND1, ND4, ND%, ND6 genes 249
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 249
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 247
Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients 246
Autoimmunitary changes in adrenoleukodystrophy and adrenomyeloneuropathy 246
Clinical, familial, and neuroimaging features of CADASIL-like patients 246
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 245
Totale 30.289
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Categoria #
all - tutte 216.424
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 216.424
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20224.064 0 627 295 228 279 107 231 152 215 449 473 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
2026/20271.817 883 934 0 0 0 0 0 0 0 0 0 0
Totale 76.283