IRIS
BOTTA, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 24.979
AS - Asia 2.992
EU - Europa 2.774
SA - Sud America 460
AF - Africa 42
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 2
Totale 31.264
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Nazione #
US - Stati Uniti d'America 24.886
SG - Singapore 1.420
CN - Cina 561
IT - Italia 490
DE - Germania 404
BR - Brasile 373
RU - Federazione Russa 369
UA - Ucraina 283
VN - Vietnam 279
HK - Hong Kong 270
IE - Irlanda 254
FR - Francia 194
GB - Regno Unito 179
PL - Polonia 163
SE - Svezia 138
KR - Corea 125
FI - Finlandia 93
JP - Giappone 88
NL - Olanda 58
CA - Canada 56
IN - India 55
ES - Italia 36
AR - Argentina 31
IQ - Iraq 30
ID - Indonesia 26
AT - Austria 25
BD - Bangladesh 25
MX - Messico 22
BE - Belgio 20
CZ - Repubblica Ceca 18
TR - Turchia 17
PH - Filippine 16
ZA - Sudafrica 16
AU - Australia 14
PK - Pakistan 14
CL - Cile 13
EC - Ecuador 12
NP - Nepal 10
CO - Colombia 9
RO - Romania 9
IL - Israele 8
UZ - Uzbekistan 8
TN - Tunisia 7
LT - Lituania 6
PY - Paraguay 6
RS - Serbia 6
SA - Arabia Saudita 6
EG - Egitto 5
IR - Iran 5
KG - Kirghizistan 5
MA - Marocco 5
PE - Perù 5
VE - Venezuela 5
DO - Repubblica Dominicana 4
JO - Giordania 4
MD - Moldavia 4
NO - Norvegia 4
TH - Thailandia 4
AE - Emirati Arabi Uniti 3
BY - Bielorussia 3
CH - Svizzera 3
MY - Malesia 3
PR - Porto Rico 3
SN - Senegal 3
AL - Albania 2
BG - Bulgaria 2
BO - Bolivia 2
CU - Cuba 2
DK - Danimarca 2
DZ - Algeria 2
EU - Europa 2
GY - Guiana 2
KW - Kuwait 2
KZ - Kazakistan 2
MT - Malta 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
UY - Uruguay 2
AZ - Azerbaigian 1
BB - Barbados 1
BH - Bahrain 1
BW - Botswana 1
CM - Camerun 1
CR - Costa Rica 1
EE - Estonia 1
GA - Gabon 1
GD - Grenada 1
GR - Grecia 1
HU - Ungheria 1
LV - Lettonia 1
MN - Mongolia 1
NG - Nigeria 1
NI - Nicaragua 1
PT - Portogallo 1
TO - Tonga 1
TW - Taiwan 1
Totale 31.264
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Città #
Woodbridge 6.811
Wilmington 6.232
Houston 5.876
Singapore 802
Fairfield 776
Ashburn 479
Ann Arbor 426
Chandler 389
San Jose 303
Seattle 297
Hong Kong 266
Jacksonville 250
New York 249
Beijing 241
Dublin 239
Cambridge 238
Rome 181
Medford 176
Santa Clara 146
Kraków 131
The Dalles 118
Dearborn 106
Council Bluffs 105
Los Angeles 96
Boardman 88
Ho Chi Minh City 83
Lawrence 82
Tokyo 72
Hanoi 65
Menlo Park 59
Moscow 51
Lauterbourg 50
San Diego 41
Zhengzhou 41
Buffalo 38
Orem 37
Milan 32
São Paulo 32
Dallas 30
Atlanta 29
London 29
Mülheim 29
Warsaw 28
Helsinki 25
Redondo Beach 25
Falls Church 22
Jakarta 22
Montreal 22
Nuremberg 21
Chennai 19
Chicago 19
Frankfurt am Main 19
Munich 19
Brussels 18
Denver 18
Norwalk 18
Redwood City 17
Seoul 17
Barcelona 16
Detroit 16
Manchester 16
Columbus 15
Rio de Janeiro 15
Stockholm 15
Center 14
Amsterdam 13
Brooklyn 13
Nanjing 13
Toronto 13
Brno 12
Da Nang 12
Guangzhou 12
Mountain View 12
Phoenix 11
Poplar 11
Saint Petersburg 11
San Francisco 11
Baghdad 10
Biên Hòa 10
Vienna 10
Boston 9
Curitiba 9
North Bergen 9
Verona 9
Dong Ket 8
Engelhard 8
Hefei 8
Indiana 8
Johannesburg 8
Lappeenranta 8
Mexico City 8
Paris 8
San Mateo 8
Tashkent 8
Charlotte 7
Haiphong 7
Ninh Bình 7
Palo Alto 7
Belo Horizonte 6
Brasília 6
Totale 26.587
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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 523
Association study of a promoter polymorphism of UFD1L gene with schizophrenia 519
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 516
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2) 511
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. 502
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles 501
Congenital heart disease in mice deficient for the DiGeorge Syndrome region 496
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases 493
null 492
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients 485
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) 484
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests 479
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models 475
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 474
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) 469
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 465
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2 459
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients 459
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2 459
Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L) 457
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 457
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 455
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) 454
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. 454
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees 450
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 449
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 449
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 448
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 443
Myotonic dystrophy type 1: Role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 439
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues 439
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 437
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 435
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. 430
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 428
Italian guidelines for molecular analysis in myotonic dystrophies 427
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population 426
Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction 420
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) 416
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I 411
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype 408
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 405
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis 405
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 404
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients 402
Normal myogenesis and increased apoptosis in myotonic dystrophy type 1 muscle cells 400
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 397
Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation 393
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 392
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes 388
Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells 385
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 375
Variant interrupted DMPK alleles: implications in the pathogenesis and molecular diagnosis of myotonic dystrophy type 1 (DM1) 369
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene 368
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 355
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1 355
Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings 354
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 349
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 343
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre 343
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 329
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes 308
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 294
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 280
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts 252
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 252
SCN4A as modifier gene in patients with myotonic dystrophy type 2 224
Workload measurement for molecular genetics laboratory: A survey study 209
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1 203
Reply to the letter entitled “Predictors of respiratory impairment in patients with myotonic dystrophy type 1” 196
TNNT2 missplicing in skeletal muscle as a cardiac biomarker in myotonic dystrophy type 1 but not in myotonic dystrophy type 2 190
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 188
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis 168
DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review 139
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 129
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population 127
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 127
The role of PTX3 in mineralization processes and aging-related bone diseases 118
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 116
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 115
The long pentraxin PTX3: a novel serum marker to improve the prediction of osteoporosis and osteoarthritis bone-related phenotypes 107
A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients 105
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 103
Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection 99
Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients 96
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis 93
Plasma heavy metal levels correlate with deregulated gene expression of detoxifying enzymes in osteoporotic patients 88
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 88
Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids 85
Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures 82
Methylation of the Vitamin D Receptor Gene in Human Disorders 73
Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis 72
Role of the vitamin D receptor (VDR) in the pathogenesis of osteoporosis: a genetic, epigenetic and molecular pilot study 71
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 71
Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM) 71
Cellular Senescence: The Driving Force of Musculoskeletal Diseases 71
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 63
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Circulating long non-coding rna gas5 is overexpressed in serum from osteoporotic patients and is associated with increased risk of bone fragility 33
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Totale 31.577
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Categoria #
all - tutte 74.732
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 74.732
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021388 0 0 0 0 0 0 0 0 0 128 153 107
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
2025/20263.638 379 166 401 389 378 127 437 550 449 362 0 0
Totale 31.647