IRIS
DOTTI, MARIA
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 35.301
EU - Europa 21.698
AS - Asia 11.634
SA - Sud America 2.026
AF - Africa 581
OC - Oceania 41
Continente sconosciuto - Info sul continente non disponibili 35
Totale 71.316
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 34.979
GB - Regno Unito 6.006
CN - Cina 4.477
RU - Federazione Russa 4.041
SG - Singapore 3.594
IE - Irlanda 2.907
UA - Ucraina 1.992
BR - Brasile 1.689
SE - Svezia 1.410
FR - Francia 1.367
IT - Italia 1.211
DE - Germania 1.188
VN - Vietnam 941
HK - Hong Kong 849
FI - Finlandia 730
KR - Corea 597
ZA - Sudafrica 305
IN - India 228
ES - Italia 184
TR - Turchia 179
CA - Canada 173
NL - Olanda 155
BD - Bangladesh 133
BE - Belgio 130
IQ - Iraq 120
AR - Argentina 113
NG - Nigeria 96
JP - Giappone 90
MX - Messico 80
PL - Polonia 80
PK - Pakistan 62
EC - Ecuador 51
ID - Indonesia 49
CZ - Repubblica Ceca 45
SA - Arabia Saudita 40
VE - Venezuela 40
AT - Austria 39
CO - Colombia 36
MA - Marocco 36
AU - Australia 32
CL - Cile 29
EU - Europa 29
EG - Egitto 28
IL - Israele 26
CI - Costa d'Avorio 25
JO - Giordania 24
BG - Bulgaria 23
KE - Kenya 23
UZ - Uzbekistan 23
LT - Lituania 22
AZ - Azerbaigian 21
DZ - Algeria 21
UY - Uruguay 21
PY - Paraguay 20
RO - Romania 20
MY - Malesia 19
PH - Filippine 18
IR - Iran 15
GR - Grecia 14
HR - Croazia 14
KZ - Kazakistan 14
PT - Portogallo 14
NP - Nepal 13
TN - Tunisia 13
AE - Emirati Arabi Uniti 12
CH - Svizzera 12
PE - Perù 12
BO - Bolivia 11
KG - Kirghizistan 11
AL - Albania 10
DO - Repubblica Dominicana 10
ET - Etiopia 10
HU - Ungheria 10
JM - Giamaica 10
DK - Danimarca 9
LB - Libano 9
MD - Moldavia 9
OM - Oman 9
EE - Estonia 8
LV - Lettonia 8
NZ - Nuova Zelanda 8
SK - Slovacchia (Repubblica Slovacca) 8
AM - Armenia 7
GT - Guatemala 7
PS - Palestinian Territory 7
SN - Senegal 7
TT - Trinidad e Tobago 7
BB - Barbados 6
LU - Lussemburgo 6
MK - Macedonia 6
PA - Panama 6
SI - Slovenia 6
KW - Kuwait 5
RS - Serbia 5
TH - Thailandia 5
TW - Taiwan 5
BY - Bielorussia 4
GE - Georgia 4
HN - Honduras 4
LA - Repubblica Popolare Democratica del Laos 4
Totale 71.240
Salva come PNG Salva come JPEG
Città #
Southend 5.406
Menlo Park 4.874
Dallas 4.250
Fairfield 3.519
Dublin 2.893
Ashburn 2.235
Singapore 2.007
Chandler 1.870
Woodbridge 1.701
Jacksonville 1.680
Houston 1.533
Wilmington 1.361
Seattle 1.297
Cambridge 1.184
Moscow 1.078
Santa Clara 1.054
Beijing 1.042
Ann Arbor 968
Hong Kong 821
Princeton 669
Hefei 657
Seoul 593
San Jose 589
Nanjing 536
The Dalles 434
Siena 376
Los Angeles 340
Helsinki 334
Lauterbourg 287
New York 284
Ho Chi Minh City 275
Johannesburg 269
Boardman 242
Hanoi 232
San Mateo 203
Nanchang 198
San Diego 198
Council Bluffs 179
Buffalo 170
São Paulo 161
Shenyang 148
Munich 142
Málaga 127
Hebei 112
Tianjin 104
Izmir 99
London 97
Dong Ket 96
Changsha 94
Columbus 94
Shanghai 94
Kunming 90
Düsseldorf 86
Abuja 85
Orem 84
Brussels 80
Tokyo 79
Lancaster 75
Turku 75
Toronto 72
Venezia 71
San Francisco 67
Warsaw 67
Redondo Beach 66
Jiaxing 58
Jinan 56
Norwalk 56
Frankfurt am Main 55
Belo Horizonte 54
Dearborn 54
Rio de Janeiro 54
Rome 53
Chennai 52
Washington 52
Hangzhou 50
Zhengzhou 48
Milan 47
Waanrode 47
Phoenix 45
Amsterdam 42
Manchester 42
Brooklyn 41
Montreal 41
Bengaluru 40
Chicago 40
Guangzhou 40
Stockholm 40
Atlanta 38
Haiphong 38
Florence 37
Ningbo 37
Da Nang 34
Curitiba 33
Denver 33
Baghdad 31
Boston 29
Brasília 29
Nuremberg 28
Dhaka 26
Mestre 26
Totale 51.729
Salva come PNG Salva come JPEG
Nome #
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 437
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 393
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 390
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 378
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 366
A Rett syndrome MECP2 mutation that causes mental retardation in men 365
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 365
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 361
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 361
A case of dystonia with onset during pregnancy 357
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 357
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 357
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 353
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 350
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 341
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 339
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 335
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 333
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 332
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 327
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 326
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 324
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 324
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 324
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 323
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 320
Cerebellum and neuropsychiatric disorders: insights from ARSACS 314
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 312
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 309
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 307
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 305
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 301
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 291
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 287
Two novel HTRA1 mutations in a European CARASIL patient. 285
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 284
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 281
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 279
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 277
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 277
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 277
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 276
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 276
Typical pathological changes of CADASIL in the optic nerve 276
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 275
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 275
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 273
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 271
Congenital myopathies: Clinical phenotypes and new diagnostic tools 271
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 270
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis 270
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient 268
Homozygosity and severity of phenotypic presentation in a CADASIL family 267
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 267
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 266
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 266
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 266
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 266
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 263
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 262
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 260
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 257
MECP2 mutation in male patients with non-specific X-linked mental retardation 254
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 254
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 253
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN 253
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 252
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 252
Temporal lobe abnormalities in neurosyphilis 251
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 251
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 251
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 250
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 250
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 249
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 249
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome 247
Visual System Involvement in CADASIL. 247
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. 246
Genetic leukoencephalopaties with unknown metabolic pathogenesis 245
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 244
Imaging of the thymus in myotonic dystrophy type 1 244
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. 243
CADASIL and cerebrovascular diseases 242
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. 242
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 242
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 242
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 241
Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI 241
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 239
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 239
Acute visual loss due to anterior ischemic optic neuropathy as first symptom in a patient with CADASIL 238
Molecular genetic study of Leber’s hereditary optic neurophaty (LHON): mutation screening by sequencing of ND1, ND4, ND%, ND6 genes 238
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 237
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms 236
Application of the DSM-5 Criteria for Major Neurocognitive Disorder to Vascular MCI Patients 236
Hereditary cerebral small vessel diseases: A review. 236
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. 235
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system 234
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 233
Autoimmunitary changes in adrenoleukodystrophy and adrenomyeloneuropathy 233
Totale 28.434
Salva come PNG Salva come JPEG
Categoria #
all - tutte 198.637
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 198.637
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.455 0 0 0 0 0 0 0 0 0 418 620 417
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
2025/202618.263 1.571 3.435 2.893 2.036 3.681 689 1.973 602 603 780 0 0
Totale 71.807