IRIS
BOTTA, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 26.847
AS - Asia 3.176
EU - Europa 3.035
SA - Sud America 483
Continente sconosciuto - Info sul continente non disponibili 387
AF - Africa 49
OC - Oceania 15
Totale 33.992
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Nazione #
US - Stati Uniti d'America 26.668
SG - Singapore 1.428
IT - Italia 669
CN - Cina 590
DE - Germania 410
BR - Brasile 382
RU - Federazione Russa 375
UA - Ucraina 285
VN - Vietnam 284
HK - Hong Kong 275
IE - Irlanda 256
FR - Francia 203
GB - Regno Unito 190
PL - Polonia 167
SE - Svezia 142
BD - Bangladesh 137
KR - Corea 125
CA - Canada 97
FI - Finlandia 94
JP - Giappone 90
NL - Olanda 76
IN - India 58
ES - Italia 39
AR - Argentina 32
ID - Indonesia 30
IQ - Iraq 30
AT - Austria 27
MX - Messico 23
BE - Belgio 20
CZ - Repubblica Ceca 18
TR - Turchia 18
EC - Ecuador 16
PH - Filippine 16
ZA - Sudafrica 16
AU - Australia 14
PK - Pakistan 14
CL - Cile 13
CO - Colombia 13
LT - Lituania 12
NP - Nepal 11
CR - Costa Rica 10
IL - Israele 10
MY - Malesia 9
RO - Romania 9
TN - Tunisia 8
UZ - Uzbekistan 8
JM - Giamaica 7
NI - Nicaragua 7
PY - Paraguay 7
SA - Arabia Saudita 7
EG - Egitto 6
PR - Porto Rico 6
RS - Serbia 6
VE - Venezuela 6
AE - Emirati Arabi Uniti 5
DO - Repubblica Dominicana 5
IR - Iran 5
KG - Kirghizistan 5
MA - Marocco 5
NO - Norvegia 5
PE - Perù 5
TH - Thailandia 5
TT - Trinidad e Tobago 5
AL - Albania 4
EE - Estonia 4
HN - Honduras 4
JO - Giordania 4
MD - Moldavia 4
NG - Nigeria 4
UY - Uruguay 4
BO - Bolivia 3
BY - Bielorussia 3
CH - Svizzera 3
DK - Danimarca 3
KW - Kuwait 3
SN - Senegal 3
SV - El Salvador 3
BG - Bulgaria 2
CU - Cuba 2
CW - ???statistics.table.value.countryCode.CW??? 2
DZ - Algeria 2
EU - Europa 2
GD - Grenada 2
GT - Guatemala 2
GY - Guiana 2
HU - Ungheria 2
KZ - Kazakistan 2
MT - Malta 2
PS - Palestinian Territory 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
AI - Anguilla 1
AZ - Azerbaigian 1
BB - Barbados 1
BH - Bahrain 1
BW - Botswana 1
BZ - Belize 1
CM - Camerun 1
GA - Gabon 1
GP - Guadalupe 1
Totale 33.600
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Città #
Woodbridge 6.811
Wilmington 6.235
Houston 5.883
Singapore 806
Fairfield 776
Ashburn 769
Ann Arbor 426
San Jose 409
Chandler 389
Seattle 304
New York 279
Hong Kong 270
Jacksonville 254
Beijing 245
Dublin 239
Cambridge 238
Council Bluffs 207
Rome 201
Medford 176
Santa Clara 168
Los Angeles 132
Kraków 131
The Dalles 119
Boardman 114
Dearborn 106
Ho Chi Minh City 85
Lawrence 82
Tokyo 73
Hanoi 67
Menlo Park 59
Phoenix 57
Moscow 51
Buffalo 50
Lauterbourg 50
San Diego 46
North Bergen 44
Orem 41
Zhengzhou 41
Atlanta 40
Dallas 39
Milan 37
São Paulo 36
Chicago 32
London 29
Montreal 29
Mülheim 29
Warsaw 28
Denver 25
Helsinki 25
Redondo Beach 25
Falls Church 22
Jakarta 22
Nuremberg 22
Columbus 20
Brooklyn 19
Chennai 19
Frankfurt am Main 19
Munich 19
Norwalk 19
Brussels 18
Manchester 18
Detroit 17
Redwood City 17
Seoul 17
Toronto 17
Barcelona 16
San Francisco 16
Stockholm 16
Rio de Janeiro 15
Amsterdam 14
Boston 14
Center 14
Nanjing 13
Brno 12
Da Nang 12
Guangzhou 12
Mountain View 12
Naples 12
Charlotte 11
Las Vegas 11
Poplar 11
Saint Petersburg 11
Baghdad 10
Biên Hòa 10
Carrboro 10
Florence 10
Vienna 10
Curitiba 9
Palermo 9
San José 9
Verona 9
Dong Ket 8
Engelhard 8
Guayaquil 8
Hefei 8
Indiana 8
Johannesburg 8
Lappeenranta 8
Mexico City 8
Newark 8
Totale 27.472
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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 551
Association study of a promoter polymorphism of UFD1L gene with schizophrenia 541
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 534
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2) 529
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. 524
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) 520
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles 516
Congenital heart disease in mice deficient for the DiGeorge Syndrome region 513
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases 509
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients 508
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests 505
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 500
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models 492
null 492
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) 488
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 486
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients 481
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) 481
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 481
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 479
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2 479
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 479
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. 478
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2 473
Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L) 473
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 471
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees 465
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 463
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 462
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues 457
Italian guidelines for molecular analysis in myotonic dystrophies 456
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 456
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 456
Myotonic dystrophy type 1: Role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 453
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. 449
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 447
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population 443
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients 441
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) 439
Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction 436
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 434
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 430
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis 429
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I 426
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 423
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype 420
Normal myogenesis and increased apoptosis in myotonic dystrophy type 1 muscle cells 416
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 408
Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation 408
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 408
Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells 403
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes 398
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1 390
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene 388
Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings 387
Variant interrupted DMPK alleles: implications in the pathogenesis and molecular diagnosis of myotonic dystrophy type 1 (DM1) 384
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 369
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre 362
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 361
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 358
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 340
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes 330
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 314
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 303
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 286
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts 269
TNNT2 missplicing in skeletal muscle as a cardiac biomarker in myotonic dystrophy type 1 but not in myotonic dystrophy type 2 245
SCN4A as modifier gene in patients with myotonic dystrophy type 2 238
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1 224
Workload measurement for molecular genetics laboratory: A survey study 223
Reply to the letter entitled “Predictors of respiratory impairment in patients with myotonic dystrophy type 1” 210
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 209
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis 199
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population 180
DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review 161
The role of PTX3 in mineralization processes and aging-related bone diseases 151
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 150
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 149
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 149
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 145
The long pentraxin PTX3: a novel serum marker to improve the prediction of osteoporosis and osteoarthritis bone-related phenotypes 138
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 135
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 130
A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients 125
Role of the vitamin D receptor (VDR) in the pathogenesis of osteoporosis: a genetic, epigenetic and molecular pilot study 124
Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients 119
Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection 117
Plasma heavy metal levels correlate with deregulated gene expression of detoxifying enzymes in osteoporotic patients 116
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis 112
Methylation of the Vitamin D Receptor Gene in Human Disorders 106
Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids 103
Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures 100
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 99
Cellular Senescence: The Driving Force of Musculoskeletal Diseases 95
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 94
Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis 91
Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells 83
Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM) 82
Circulating long non-coding rna gas5 is overexpressed in serum from osteoporotic patients and is associated with increased risk of bone fragility 69
Different neuropsychological and brain volumetric profiles in a pair of identical twins with myotonic dystrophy type 1 indicate a non-genetic modulation of clinical phenotype 42
Totale 33.863
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Categoria #
all - tutte 84.598
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 84.598
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022660 0 0 0 0 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
2025/20264.070 379 166 401 389 378 127 437 550 449 370 248 176
2026/20271.913 232 340 772 566 3 0 0 0 0 0 0 0
Totale 33.992