IRIS
BOTTA, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 24.297
AS - Asia 2.361
EU - Europa 2.337
SA - Sud America 421
AF - Africa 27
OC - Oceania 6
Continente sconosciuto - Info sul continente non disponibili 2
Totale 29.451
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Nazione #
US - Stati Uniti d'America 24.231
SG - Singapore 1.217
CN - Cina 455
IT - Italia 416
DE - Germania 384
BR - Brasile 352
UA - Ucraina 280
HK - Hong Kong 253
IE - Irlanda 250
RU - Federazione Russa 178
GB - Regno Unito 159
PL - Polonia 156
SE - Svezia 135
FR - Francia 133
VN - Vietnam 132
KR - Corea 124
FI - Finlandia 78
NL - Olanda 43
CA - Canada 41
JP - Giappone 29
AR - Argentina 27
ES - Italia 27
AT - Austria 24
ID - Indonesia 24
IN - India 22
IQ - Iraq 22
BE - Belgio 20
CZ - Repubblica Ceca 18
MX - Messico 18
BD - Bangladesh 16
ZA - Sudafrica 12
TR - Turchia 11
PK - Pakistan 10
CL - Cile 9
RO - Romania 8
CO - Colombia 7
EC - Ecuador 7
IL - Israele 6
LT - Lituania 6
PY - Paraguay 6
AU - Australia 5
KG - Kirghizistan 5
MA - Marocco 5
PH - Filippine 5
UZ - Uzbekistan 5
VE - Venezuela 5
EG - Egitto 4
IR - Iran 4
NO - Norvegia 4
PE - Perù 4
RS - Serbia 4
TN - Tunisia 4
AE - Emirati Arabi Uniti 3
BY - Bielorussia 3
DO - Repubblica Dominicana 3
SA - Arabia Saudita 3
CH - Svizzera 2
CU - Cuba 2
DK - Danimarca 2
EU - Europa 2
GY - Guiana 2
JO - Giordania 2
KZ - Kazakistan 2
MY - Malesia 2
NP - Nepal 2
TH - Thailandia 2
AZ - Azerbaigian 1
BG - Bulgaria 1
BH - Bahrain 1
BO - Bolivia 1
DZ - Algeria 1
EE - Estonia 1
GD - Grenada 1
GR - Grecia 1
KW - Kuwait 1
MD - Moldavia 1
MT - Malta 1
NI - Nicaragua 1
PS - Palestinian Territory 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TO - Tonga 1
TW - Taiwan 1
UY - Uruguay 1
Totale 29.451
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Città #
Woodbridge 6.811
Wilmington 6.232
Houston 5.871
Fairfield 776
Singapore 623
Ann Arbor 426
Ashburn 407
Chandler 389
Seattle 297
Hong Kong 250
Jacksonville 250
New York 241
Cambridge 238
Dublin 235
Beijing 233
Medford 176
Rome 175
Santa Clara 137
Kraków 131
Dearborn 106
Boardman 88
The Dalles 87
Los Angeles 85
Lawrence 82
Menlo Park 59
Ho Chi Minh City 42
San Diego 41
Zhengzhou 41
Council Bluffs 40
Buffalo 37
Milan 30
Mülheim 29
São Paulo 29
Dallas 28
Moscow 28
London 25
Redondo Beach 25
Warsaw 25
Atlanta 22
Falls Church 22
Jakarta 22
Hanoi 21
Nuremberg 21
Munich 19
Brussels 18
Norwalk 18
Redwood City 17
Seoul 17
Barcelona 16
Montreal 16
San Jose 16
Tokyo 16
Chicago 15
Columbus 15
Denver 15
Detroit 15
Rio de Janeiro 15
Stockholm 15
Center 14
Brooklyn 13
Brno 12
Guangzhou 12
Mountain View 12
Nanjing 12
Orem 11
Phoenix 11
Saint Petersburg 11
San Francisco 11
Toronto 11
Chennai 10
Helsinki 10
Manchester 10
Poplar 10
Vienna 10
Curitiba 9
Biên Hòa 8
Boston 8
Dong Ket 8
Engelhard 8
Hefei 8
Indiana 8
Lappeenranta 8
Mexico City 8
San Mateo 8
Amsterdam 7
Charlotte 7
Johannesburg 7
Palo Alto 7
Verona 7
Belo Horizonte 6
Brasília 6
Cangzhou 6
Frankfurt am Main 6
Roebling 6
Auburn Hills 5
Da Nang 5
Florence 5
Goiânia 5
Kilburn 5
La Veta 5
Totale 25.532
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Nome #
An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy 500
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 494
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2) 493
Association study of a promoter polymorphism of UFD1L gene with schizophrenia 489
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. 488
Congenital heart disease in mice deficient for the DiGeorge Syndrome region 481
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles 479
Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1) 472
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases 469
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients 467
Targeted Next Generation Sequencing in patients with Myotonia Congenita 467
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 458
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) 455
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests 454
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models 454
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 450
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2 448
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients 447
Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L) 446
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2 445
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. 444
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees 441
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 439
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) 437
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 434
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 432
Myotonic dystrophy type 1: Role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 430
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 425
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 425
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 423
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 423
Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients 422
Italian guidelines for molecular analysis in myotonic dystrophies 415
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues 411
Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction 411
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population 410
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 407
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. 407
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype 400
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I 397
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 396
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients 393
Normal myogenesis and increased apoptosis in myotonic dystrophy type 1 muscle cells 392
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 392
Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y) 391
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis 387
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 385
Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation 379
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 379
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes 376
Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells 375
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 357
Variant interrupted DMPK alleles: implications in the pathogenesis and molecular diagnosis of myotonic dystrophy type 1 (DM1) 353
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1 345
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene 344
Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online 338
Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings 335
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 333
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 328
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre 322
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 321
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes 295
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 275
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 258
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts 230
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 217
SCN4A as modifier gene in patients with myotonic dystrophy type 2 207
Workload measurement for molecular genetics laboratory: A survey study 196
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1 191
Reply to the letter entitled “Predictors of respiratory impairment in patients with myotonic dystrophy type 1” 183
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 177
TNNT2 missplicing in skeletal muscle as a cardiac biomarker in myotonic dystrophy type 1 but not in myotonic dystrophy type 2 172
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis 151
DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review 111
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 108
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 102
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population 96
The role of PTX3 in mineralization processes and aging-related bone diseases 89
The long pentraxin PTX3: a novel serum marker to improve the prediction of osteoporosis and osteoarthritis bone-related phenotypes 89
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome 84
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 79
Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection 79
A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients 77
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis 75
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 73
Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients 72
Plasma heavy metal levels correlate with deregulated gene expression of detoxifying enzymes in osteoporotic patients 68
Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids 67
Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures 66
In Cis Effect of DMPK Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5′ and 3′ Ends of the CTG Array 65
Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis 63
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 58
Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM) 58
Role of the vitamin D receptor (VDR) in the pathogenesis of osteoporosis: a genetic, epigenetic and molecular pilot study 49
Cellular Senescence: The Driving Force of Musculoskeletal Diseases 47
Methylation of the Vitamin D Receptor Gene in Human Disorders 41
Altered Expression of Cell Cycle Regulators and Factors Released by Aged Cells in Skeletal Muscle of Patients with Bone Fragility: A Pilot Study on the Potential Role of SIRT1 in Muscle Atrophy 38
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Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up 16
Totale 29.799
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Categoria #
all - tutte 71.155
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 71.155
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.899 0 0 0 0 0 446 538 406 121 128 153 107
2021/2022864 32 97 46 29 31 93 43 38 51 72 90 242
2022/20231.145 104 80 47 148 95 257 134 83 98 4 70 25
2023/2024554 55 18 28 10 46 188 24 21 18 4 3 139
2024/20252.377 84 558 276 144 54 128 203 139 262 169 170 190
2025/20261.825 379 166 401 389 378 112 0 0 0 0 0 0
Totale 29.834