IRIS
BOTTA, ANNALISA
 Distribuzione geografica
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Continente #
NA - Nord America 25.363
AS - Asia 3.129
EU - Europa 2.897
SA - Sud America 463
AF - Africa 43
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 2
Totale 31.912
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Nazione #
US - Stati Uniti d'America 25.245
SG - Singapore 1.424
CN - Cina 586
IT - Italia 581
DE - Germania 408
BR - Brasile 373
RU - Federazione Russa 369
UA - Ucraina 283
VN - Vietnam 282
HK - Hong Kong 272
IE - Irlanda 254
FR - Francia 198
GB - Regno Unito 179
PL - Polonia 165
SE - Svezia 141
KR - Corea 125
BD - Bangladesh 117
FI - Finlandia 94
JP - Giappone 88
NL - Olanda 71
CA - Canada 70
IN - India 58
ES - Italia 38
AR - Argentina 32
IQ - Iraq 30
ID - Indonesia 26
AT - Austria 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 11
CO - Colombia 10
RO - Romania 9
IL - Israele 8
TN - Tunisia 8
UZ - Uzbekistan 8
MY - Malesia 7
LT - Lituania 6
PY - Paraguay 6
RS - Serbia 6
SA - Arabia Saudita 6
AE - Emirati Arabi Uniti 5
EG - Egitto 5
IR - Iran 5
KG - Kirghizistan 5
MA - Marocco 5
NO - Norvegia 5
PE - Perù 5
VE - Venezuela 5
DO - Repubblica Dominicana 4
JO - Giordania 4
MD - Moldavia 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
BY - Bielorussia 3
CH - Svizzera 3
JM - Giamaica 3
PR - Porto Rico 3
SN - Senegal 3
UY - Uruguay 3
AL - Albania 2
BG - Bulgaria 2
BO - Bolivia 2
CR - Costa Rica 2
CU - Cuba 2
DK - Danimarca 2
DZ - Algeria 2
EE - Estonia 2
EU - Europa 2
GD - Grenada 2
GT - Guatemala 2
GY - Guiana 2
HU - Ungheria 2
KW - Kuwait 2
KZ - Kazakistan 2
MT - Malta 2
NI - Nicaragua 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
AZ - Azerbaigian 1
BB - Barbados 1
BH - Bahrain 1
BW - Botswana 1
BZ - Belize 1
CM - Camerun 1
GA - Gabon 1
GR - Grecia 1
LV - Lettonia 1
MM - Myanmar 1
MN - Mongolia 1
NG - Nigeria 1
PT - Portogallo 1
TO - Tonga 1
Totale 31.911
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Città #
Woodbridge 6.811
Wilmington 6.233
Houston 5.876
Singapore 804
Fairfield 776
Ashburn 505
Ann Arbor 426
Chandler 389
San Jose 322
Seattle 300
New York 270
Hong Kong 267
Jacksonville 251
Beijing 244
Dublin 239
Cambridge 238
Rome 192
Medford 176
Santa Clara 153
Council Bluffs 137
Kraków 131
The Dalles 119
Los Angeles 114
Dearborn 106
Boardman 89
Ho Chi Minh City 84
Lawrence 82
Tokyo 72
Hanoi 67
Menlo Park 59
Moscow 51
Lauterbourg 50
Buffalo 47
San Diego 42
Orem 41
Zhengzhou 41
Milan 36
Atlanta 34
São Paulo 32
Dallas 31
London 29
Mülheim 29
Chicago 28
Warsaw 28
Montreal 26
Helsinki 25
Redondo Beach 25
Falls Church 22
Jakarta 22
Nuremberg 21
Chennai 19
Frankfurt am Main 19
Munich 19
Brussels 18
Columbus 18
Denver 18
Manchester 18
Norwalk 18
Redwood City 17
Seoul 17
Barcelona 16
Detroit 16
North Bergen 15
Rio de Janeiro 15
Stockholm 15
Toronto 15
Brooklyn 14
Center 14
Amsterdam 13
Nanjing 13
Brno 12
Da Nang 12
Guangzhou 12
Mountain View 12
Phoenix 12
Poplar 11
Saint Petersburg 11
San Francisco 11
Baghdad 10
Biên Hòa 10
Boston 10
Vienna 10
Curitiba 9
Verona 9
Charlotte 8
Dong Ket 8
Engelhard 8
Florence 8
Hefei 8
Indiana 8
Johannesburg 8
Lappeenranta 8
Mexico City 8
Paris 8
San Mateo 8
Tashkent 8
Haiphong 7
Ninh Bình 7
Palermo 7
Palo Alto 7
Totale 26.794
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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 530
Association study of a promoter polymorphism of UFD1L gene with schizophrenia 522
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 519
Effect of the [CCTG]n repeat expansion on ZNF9 expression in myotonic dystrophy type II (DM2) 512
Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. 507
The myotonic dystrophy type 2 (DM2) gene product zinc finger protein 9 (ZNF9) is associated with sarcomeres and normally localized in DM2 patients' muscles 505
MBNL142 and MBNL143 gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases 502
Congenital heart disease in mice deficient for the DiGeorge Syndrome region 501
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) 497
Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients 492
null 492
Transmission ratio distortion in the spinal muscular atrophy locus: Data from 314 prenatal tests 484
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2) 476
Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster 476
Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models 475
Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. 468
Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2 464
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients 464
Early subclinical cochlear dysfunction in myotonic dystrophy type 1. 464
Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L) 464
Progression of muscle histopathology but not of spliceopathy in myotonic dystrophy type 2 464
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency 463
Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) 460
Therapeutic strategies for the treatment of Spinal Muscular Atrophy (SMA) disease 460
Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees 454
Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 454
A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 453
Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome 450
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 445
Reliable and versatile immortal muscle cell models from healthy and myotonic dystrophy type 1 primary human myoblasts 442
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues 441
Myotonic dystrophy type 1: Role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis 440
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles 438
Altered Ca2+ homeostasis and endoplasmic reticulum stress in myotonic dystrophy type 1 muscle cells. 436
Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2 432
Italian guidelines for molecular analysis in myotonic dystrophies 429
Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population 428
Premature senescence in primary muscle cultures of myotonic dystrophy type 2 is not associated with p16 induction 424
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) 420
Use of RNA fluorescence in situ hybridization in the prenatal molecular diagnosis of myotonic dystrophy type I 416
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients 416
Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) 412
Cutaneous features of myotonic dystrophy types 1 and 2: implication of premature aging and vitamin d homeostasis 412
SCN4A mutation as modifying factor of Myotonic Dystrophy Type 2 phenotype 411
Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients 411
Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 407
Normal myogenesis and increased apoptosis in myotonic dystrophy type 1 muscle cells 402
Epstein-Barr virus infection induces miR-21 in terminally differentiated malignant B cells 397
Generation of human induced pluripotent stem cells from extraembryonic tissues of fetuses affected by monogenic diseases 395
Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation 394
Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene 391
Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes 389
Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1 378
Variant interrupted DMPK alleles: implications in the pathogenesis and molecular diagnosis of myotonic dystrophy type 1 (DM1) 372
Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene 370
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
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] 351
Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay 350
A 34-year longitudinal study on long-term cardiac outcomes in DM1 patients with normal ECG at baseline at an Italian clinical centre 345
Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome 330
Modelling the pathogenesis of Myotonic Dystrophy type 1 cardiac phenotype through human iPSC-derived cardiomyocytes 309
Generation and Neuronal Differentiation of hiPSCs From Patients With Myotonic Dystrophy Type 2 300
AFM nano-mechanical study of the beating profile of hiPSC-derived cardiomyocytes beating bodies WT and DM1 285
Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1 266
Activation of the interferon type I response rather than autophagy contributes to myogenesis inhibition in congenital DM1 myoblasts 256
SCN4A as modifier gene in patients with myotonic dystrophy type 2 228
Workload measurement for molecular genetics laboratory: A survey study 214
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1 208
Reply to the letter entitled “Predictors of respiratory impairment in patients with myotonic dystrophy type 1” 201
TNNT2 missplicing in skeletal muscle as a cardiac biomarker in myotonic dystrophy type 1 but not in myotonic dystrophy type 2 195
Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study 195
Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis 177
DNA Methylation Signatures of Bone Metabolism in Osteoporosis and Osteoarthritis Aging-Related Diseases: An Updated Review 152
Association Between DRD2 and DRD4 Polymorphisms and Eating Disorders in an Italian Population 147
The role of PTX3 in mineralization processes and aging-related bone diseases 134
Erratum: Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 134
A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles 133
Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing 125
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 122
Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture 119
The long pentraxin PTX3: a novel serum marker to improve the prediction of osteoporosis and osteoarthritis bone-related phenotypes 115
A pilot study of lncRNAs expression profile in serum of progressive multiple sclerosis patients 110
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 105
Vitamin D Receptor in Muscle Atrophy of Elderly Patients: A Key Element of Osteoporosis-Sarcopenia Connection 105
Identification of Aberrantly-Expressed Long Non-Coding RNAs in Osteoblastic Cells from Osteoporotic Patients 104
Plasma heavy metal levels correlate with deregulated gene expression of detoxifying enzymes in osteoporotic patients 101
Deregulated Clusterin as a Marker of Bone Fragility: New Insights into the Pathophysiology of Osteoporosis 97
Two Different Therapeutic Approaches for SARS-CoV-2 in hiPSCs-Derived Lung Organoids 91
Methylation of the Vitamin D Receptor Gene in Human Disorders 89
Circulating MicroRNAs as Biomarkers of Osteoporosis and Fragility Fractures 85
Role of the vitamin D receptor (VDR) in the pathogenesis of osteoporosis: a genetic, epigenetic and molecular pilot study 79
Identification, molecular characterization and segregation analysis of a variant DMPK pre-mutation allele in a three-generation Italian family 78
Genetic variability in noncoding RNAs: involvement of miRNAs and long noncoding RNAs in osteoporosis pathogenesis 76
Cellular Senescence: The Driving Force of Musculoskeletal Diseases 75
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 72
Recognition of emotions conveyed by facial expression and body postures in myotonic dystrophy (DM) 72
Mutated sigma-1R disrupts cell homeostasis in dHMN patient cells 64
Circulating long non-coding rna gas5 is overexpressed in serum from osteoporotic patients and is associated with increased risk of bone fragility 38
null 35
Totale 32.196
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Categoria #
all - tutte 79.124
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 79.124
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20264.070 379 166 401 389 378 127 437 550 449 370 248 176
2026/2027216 216 0 0 0 0 0 0 0 0 0 0 0
Totale 32.295