IRIS
BOTTA, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 23.481
EU - Europa 1.984
AS - Asia 1.065
SA - Sud America 11
OC - Oceania 5
AF - Africa 2
Continente sconosciuto - Info sul continente non disponibili 2
Totale 26.550
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Nazione #
US - Stati Uniti d'America 23.465
SG - Singapore 573
DE - Germania 351
IT - Italia 298
UA - Ucraina 280
IE - Irlanda 250
CN - Cina 232
RU - Federazione Russa 166
PL - Polonia 134
FR - Francia 124
SE - Svezia 121
KR - Corea 120
GB - Regno Unito 114
FI - Finlandia 70
HK - Hong Kong 65
BE - Belgio 20
ID - Indonesia 20
CZ - Repubblica Ceca 18
CA - Canada 13
JP - Giappone 12
NL - Olanda 11
VN - Vietnam 10
RO - Romania 8
AT - Austria 5
AU - Australia 5
BR - Brasile 5
IN - India 5
KG - Kirghizistan 5
PH - Filippine 5
CL - Cile 4
IQ - Iraq 4
IR - Iran 4
NO - Norvegia 4
PK - Pakistan 4
IL - Israele 3
AR - Argentina 2
CU - Cuba 2
ES - Italia 2
EU - Europa 2
BG - Bulgaria 1
BY - Bielorussia 1
CH - Svizzera 1
DK - Danimarca 1
EE - Estonia 1
EG - Egitto 1
GR - Grecia 1
MX - Messico 1
PT - Portogallo 1
SA - Arabia Saudita 1
SK - Slovacchia (Repubblica Slovacca) 1
TR - Turchia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 26.550
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Città #
Woodbridge 6.811
Wilmington 6.232
Houston 5.859
Fairfield 776
Singapore 504
Ann Arbor 426
Chandler 389
Ashburn 317
Seattle 292
Jacksonville 250
Cambridge 238
Dublin 235
New York 202
Medford 176
Kraków 131
Rome 129
Santa Clara 125
Dearborn 106
Beijing 104
Boardman 87
Lawrence 82
Hong Kong 62
Menlo Park 59
San Diego 41
Zhengzhou 39
Mülheim 29
Moscow 28
Milan 23
Falls Church 22
Jakarta 20
Brussels 18
London 18
Norwalk 18
Redwood City 17
Detroit 15
Center 14
Munich 13
Seoul 13
Brno 12
Mountain View 12
Nanjing 12
Saint Petersburg 11
Atlanta 10
Helsinki 9
Toronto 9
Dong Ket 8
Engelhard 8
Hefei 8
Indiana 8
San Mateo 8
Palo Alto 7
Phoenix 7
Verona 7
Roebling 6
Auburn Hills 5
Guangzhou 5
Kilburn 5
La Veta 5
Manila 5
University Park 5
Caserta 4
Chicago 4
Council Bluffs 4
Frankfurt am Main 4
Los Angeles 4
New Bedfont 4
Nuremberg 4
Nürnberg 4
San Jose 4
Shanghai 4
The Dalles 4
Cohoes 3
Creede 3
Hangzhou 3
Hounslow 3
Nanchang 3
Nepi 3
Oslo 3
Prescot 3
São Paulo 3
Tappahannock 3
Vienna 3
Warsaw 3
Woodside 3
Azor 2
Bacoli 2
Bologna 2
Canberra 2
Casalnuovo di Napoli 2
Central 2
Cinisello Balsamo 2
Clearwater 2
Deiva Marina 2
Ercolano 2
Esslingen am Neckar 2
Hanoi 2
Havana 2
Jinan 2
Melbourne 2
Napoli 2
Totale 24.207
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Nome #
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. 464
Association study of a promoter polymorphism of UFD1L gene with schizophrenia 461
An Age-standardized prevalence estimate and a sex and age distribution of myotonic dystrophy types 1 and 2 in the Rome province, Italy 460
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2) 455
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles 453
Congenital heart disease in mice deficient for the DiGeorge Syndrome region 450
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients 448
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 447
Targeted Next Generation Sequencing in patients with Myotonia Congenita 442
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models 435
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests 432
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) 432
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases 429
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) 427
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 423
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2 422
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 421
Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L) 420
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients 419
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) 419
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2 418
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 414
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees 411
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 408
Myotonic dystrophy type 1: Role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 407
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 406
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 400
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 400
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 398
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 394
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 393
Italian guidelines for molecular analysis in myotonic dystrophies 391
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. 386
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population 382
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 382
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I 376
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype 376
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis 375
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues 371
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 371
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. 369
Normal myogenesis and increased apoptosis in myotonic dystrophy type 1 muscle cells 368
Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction 368
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) 365
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 364
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 364
Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells 358
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 357
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients 357
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes 354
Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation 350
Variant interrupted DMPK alleles: implications in the pathogenesis and molecular diagnosis of myotonic dystrophy type 1 (DM1) 334
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 332
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1 327
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 321
Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] 317
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene 316
Myotonic dystrophy unlinked to DM1 and DM2 mutations in three siblings 315
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 303
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 298
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre 282
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes 275
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 244
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 209
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts 194
SCN4A as modifier gene in patients with myotonic dystrophy type 2 178
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 178
Workload measurement for molecular genetics laboratory: A survey study 170
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1 169
Reply to the letter entitled “Predictors of respiratory impairment in patients with myotonic dystrophy type 1” 163
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 160
TNNT2 missplicing in skeletal muscle as a cardiac biomarker in myotonic dystrophy type 1 but not in myotonic dystrophy type 2 154
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis 101
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 90
null 65
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population 59
Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection 54
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A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 50
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 49
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Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis 43
Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids 40
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 35
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 34
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A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients 34
Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients 33
Plasma heavy metal levels correlate with deregulated gene expression of detoxifying enzymes in osteoporotic patients 32
Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM) 31
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 30
Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures 29
Circulating long non-coding rna gas5 is overexpressed in serum from osteoporotic patients and is associated with increased risk of bone fragility 29
Evaluation of mexiletine effect on conduction delay and bradyarrhythmic complications in patients with myotonic dystrophy type 1 over long-term follow-up 27
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 17
Role of the Vitamin D Receptor (VDR) in the Pathogenesis of Osteoporosis: A Genetic, Epigenetic and Molecular Pilot Study 12
Cellular Senescence: The Driving Force of Musculoskeletal Diseases 10
Methylation of the Vitamin D Receptor Gene in Human Disorders 9
DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review 4
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis 4
Totale 26.884
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Categoria #
all - tutte 57.639
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 57.639
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20203.476 0 0 0 0 0 0 646 684 610 625 438 473
2020/20214.414 459 513 458 541 544 446 538 406 121 128 153 107
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
2024/20251.256 84 558 276 144 54 140 0 0 0 0 0 0
Totale 26.888