IRIS
DOTTI, MARIA
 Distribuzione geografica
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Continente #
NA - Nord America 34.026
EU - Europa 21.019
AS - Asia 9.891
SA - Sud America 1.861
AF - Africa 207
OC - Oceania 36
Continente sconosciuto - Info sul continente non disponibili 34
Totale 67.074
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Nazione #
US - Stati Uniti d'America 33.746
GB - Regno Unito 5.942
CN - Cina 4.153
RU - Federazione Russa 4.031
SG - Singapore 3.108
IE - Irlanda 2.905
UA - Ucraina 1.980
BR - Brasile 1.603
SE - Svezia 1.409
DE - Germania 1.155
IT - Italia 1.149
FR - Francia 1.032
HK - Hong Kong 754
FI - Finlandia 642
KR - Corea 597
VN - Vietnam 400
ES - Italia 177
TR - Turchia 169
CA - Canada 158
IN - India 158
NL - Olanda 135
BE - Belgio 130
BD - Bangladesh 97
AR - Argentina 91
IQ - Iraq 78
JP - Giappone 74
PL - Polonia 70
ZA - Sudafrica 70
MX - Messico 67
CZ - Repubblica Ceca 45
EC - Ecuador 42
AT - Austria 36
ID - Indonesia 36
PK - Pakistan 34
SA - Arabia Saudita 31
EU - Europa 29
MA - Marocco 29
CO - Colombia 28
AU - Australia 27
VE - Venezuela 27
CI - Costa d'Avorio 24
IL - Israele 24
BG - Bulgaria 22
EG - Egitto 20
AZ - Azerbaigian 19
UZ - Uzbekistan 19
LT - Lituania 18
RO - Romania 18
UY - Uruguay 18
CL - Cile 17
IR - Iran 15
JO - Giordania 15
PY - Paraguay 15
GR - Grecia 14
KE - Kenya 13
DZ - Algeria 12
KZ - Kazakistan 12
HR - Croazia 11
AE - Emirati Arabi Uniti 10
CH - Svizzera 10
KG - Kirghizistan 10
PE - Perù 10
PT - Portogallo 10
AL - Albania 9
DO - Repubblica Dominicana 9
HU - Ungheria 9
TN - Tunisia 9
DK - Danimarca 8
EE - Estonia 8
MD - Moldavia 8
NG - Nigeria 8
NP - Nepal 8
NZ - Nuova Zelanda 8
AM - Armenia 7
BO - Bolivia 7
JM - Giamaica 7
PH - Filippine 7
TT - Trinidad e Tobago 7
ET - Etiopia 6
LU - Lussemburgo 6
PA - Panama 6
BB - Barbados 5
GT - Guatemala 5
KW - Kuwait 5
LB - Libano 5
LV - Lettonia 5
MK - Macedonia 5
MY - Malesia 5
SI - Slovenia 5
SN - Senegal 5
TW - Taiwan 5
BY - Bielorussia 4
LA - Repubblica Popolare Democratica del Laos 4
PS - Palestinian Territory 4
RS - Serbia 4
BS - Bahamas 3
GE - Georgia 3
HN - Honduras 3
KH - Cambogia 3
LK - Sri Lanka 3
Totale 67.018
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Città #
Southend 5.406
Menlo Park 4.874
Dallas 4.245
Fairfield 3.519
Dublin 2.892
Ashburn 2.084
Chandler 1.870
Singapore 1.704
Woodbridge 1.701
Jacksonville 1.678
Houston 1.533
Wilmington 1.361
Seattle 1.297
Cambridge 1.183
Moscow 1.078
Santa Clara 1.042
Beijing 1.035
Ann Arbor 968
Hong Kong 746
Princeton 669
Seoul 593
Hefei 536
Nanjing 536
Siena 370
Los Angeles 306
New York 273
Helsinki 247
Boardman 242
The Dalles 237
San Mateo 203
Nanchang 198
San Diego 197
Buffalo 168
São Paulo 154
Shenyang 148
Munich 141
Málaga 127
Hebei 112
Council Bluffs 109
Tianjin 104
Ho Chi Minh City 100
Izmir 98
Dong Ket 96
Changsha 94
Columbus 94
Shanghai 91
Kunming 90
Hanoi 88
Düsseldorf 86
London 85
Brussels 80
Lancaster 75
Turku 75
Venezia 71
Toronto 70
Redondo Beach 66
Tokyo 65
San Francisco 64
Warsaw 60
Jiaxing 58
Jinan 56
Norwalk 56
Dearborn 54
Belo Horizonte 52
Rio de Janeiro 52
Washington 52
Hangzhou 50
Zhengzhou 48
Waanrode 47
Milan 46
Rome 45
Phoenix 44
Bengaluru 40
Brooklyn 40
Guangzhou 40
Stockholm 40
Johannesburg 39
San Jose 39
Atlanta 38
Frankfurt am Main 38
Ningbo 37
Chicago 34
Florence 34
Montreal 34
Amsterdam 31
Denver 31
Curitiba 30
Orem 29
Boston 28
Brasília 28
Chennai 28
Manchester 27
Mestre 26
Abidjan 24
Dhaka 23
Lanzhou 23
Nuremberg 23
Redwood City 23
Taizhou 23
Campinas 22
Totale 48.966
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Nome #
A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL 423
A new missense mutation in caveolin-3 gene causes rippling muscle disease. 380
A CASE OF CEREBROTENDINOUS XANTHOMATOSIS PRESENTING WITH PARKINSONISM IN THE SEVENTH DECADE 369
A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss 365
A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies. 351
A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case 348
A Rett syndrome MECP2 mutation that causes mental retardation in men 347
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy 344
A new family with CADASIL: presentation of an homozygous patient and comparison with heterozigous phenotypes. 340
A case of dystonia with onset during pregnancy 338
Hemodynamic evaluation of the optic nerve head in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. 337
Effects of cerebrolysin administration on oxidative stress-induced apoptosis in lymphocytes from CADASIL patients. 335
Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability. 334
C9ORF72 gene expansion in a patient with intellectual disability and psychiatric disease 332
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients 331
A case of ethambutol-induced optic neuropathy harbouring the primary mitochondrial LHON mutation at nt 11778 329
A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy. 315
Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene 315
Development and psychometric properties of a neuropsychological battery for mild cognitive impairment with small vessel disease: The VMCI-tuscany study 313
A second MNGIE patient without typical mitochondrial skeletal muscle involvement 307
A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy. 307
AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases 307
A novel heteroplasmic tRNA Leu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia 305
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: Update on clinical, diagnostic, and management aspects 305
A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy 298
Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia 297
Cerebellum and neuropsychiatric disorders: insights from ARSACS 297
Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia 294
Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum 291
Two novel HTRA1 mutations in a European CARASIL patient. 276
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. 275
CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients 274
The burden of microstructural damage modulates cortical activation in elderly subjects with MCI and leuko-araiosis. A DTI and fMRI study 274
Rare POMC Mutation in a Patient With Myotonic Dystrophy Type 1 and Adrenocorticotropin Hyperresponse to Corticotropin-Releasing Hormone 271
Acute unilateral visual loss as the first symptom of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 268
The role of dentate nuclei in human oculomotor control: Insights from cerebrotendinous xanthomatosis 266
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations 264
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report 264
Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28 263
Frequency of OPA1 and OPTN gene variations in 18 patients with normal tension glaucoma 262
Diagnostic value of ultrastructural skin biopsy studies in CADASIL 261
Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families 259
Congenital myopathies: Clinical phenotypes and new diagnostic tools 259
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders 259
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence? 258
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1 258
A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient 255
Acute vestibular syndrome in a patient with cerebral autosomal dominant leukoencephalopathy with subcortical infarcts and leukoencephalopathy (CADASIL) 253
Homozygosity and severity of phenotypic presentation in a CADASIL family 253
Systemic blood pressure profile in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 252
Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias. 252
Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils. 251
Clinical relevance of brain volume changes in patients with cerebrotendinous xanthomatosis 251
First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family. 251
Typical pathological changes of CADASIL in the optic nerve 249
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study 248
Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis 246
Temporal lobe abnormalities in neurosyphilis 243
MECP2 mutation in male patients with non-specific X-linked mental retardation 241
Sonographic and electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. 241
Anti-saccades in cerebellar ataxias reveal a contribution of the cerebellum in executive functions 241
Motor-sensory neuropathy without minifascicles in a patient with 46XY gonadal dysgenesis 240
Cerebral hemorrhages in CADASIL: Report of four cases and a brief review. 240
Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease 240
Cardiac autonomic nervous system and risk of arrhythmias in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). 239
Blood–brain barrier permeability in a patient with Labrune syndrome due to SNORD118 mutations 239
Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities 239
Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. 238
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. 238
Atypical phenotype of Refsum's disease: clinical, biochemical, neurophysiological and pathological study 237
Toscana itaca (Italian CADASIL) registry: an implementable online database for CADASIL (Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). 234
Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients. 234
Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up. 234
The first Italian patient with oculopharyngodistal myopathy: Case report and considerations on differential diagnosis. 234
Imaging of the thymus in myotonic dystrophy type 1 233
Cerebro-ocular dysplasia and muscular dystrophy: report of two cases 232
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 230
Visual System Involvement in CADASIL. 230
A novel OPA1 mutation resulting in atypical dominant optic atrophy with NTG “Like” phenotype. 228
Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome 227
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. 227
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression 227
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation. Six-year MRI follow-up 227
Adult-onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study 226
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy 226
CADASIL and cerebrovascular diseases 225
Genetic leukoencephalopaties with unknown metabolic pathogenesis 225
Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients. 223
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene 223
Adrenomyeloneurodystrophy with late cerebral involvement and evidence of a multiple autoimmune disorder 223
Molecular genetic study of Leber’s hereditary optic neurophaty (LHON): mutation screening by sequencing of ND1, ND4, ND%, ND6 genes 223
Trigeminal-Nociceptive Activation And Pupillary Changes In Two Patients With Wernicke’s Encephalopathy 223
Acute visual loss due to anterior ischemic optic neuropathy as first symptom in a patient with CADASIL 222
Using a simplified trail making test B to assess visuo-spatial and sequencing abilities in hereditary spinocerebellar ataxias (SCA) 222
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis 220
Motor-sensory neuropathy with minifascicle formation in a woman with normal karyotype. 220
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. 220
Adult-onset genetic leukoencephalopathies. Focus on the more recently defined forms 220
Autonomic dysfunction in mental retardation and spastic paraparesis with MECP2 mutation. 220
Merosin positive congenital muscular dystrophy with severe involvement of the central nervous system 218
Totale 26.718
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Categoria #
all - tutte 190.231
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 190.231
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20214.233 0 0 0 0 0 741 319 1.013 705 418 620 417
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
2025/202614.021 1.571 3.435 2.893 2.036 3.681 405 0 0 0 0 0 0
Totale 67.565