TUPLER, Rossella
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 14.018
AS - Asia 5.304
EU - Europa 4.680
SA - Sud America 778
Continente sconosciuto - Info sul continente non disponibili 145
AF - Africa 112
OC - Oceania 10
Totale 25.047
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 13.725
SG - Singapore 1.671
GB - Regno Unito 1.415
CN - Cina 1.322
IT - Italia 1.188
HK - Hong Kong 751
BR - Brasile 600
VN - Vietnam 589
DE - Germania 415
SE - Svezia 403
BD - Bangladesh 227
FI - Finlandia 225
UA - Ucraina 224
FR - Francia 219
RU - Federazione Russa 199
TR - Turchia 161
CA - Canada 131
KR - Corea 116
IN - India 101
BG - Bulgaria 92
ID - Indonesia 85
AR - Argentina 64
ES - Italia 48
IQ - Iraq 47
NL - Olanda 44
MX - Messico 37
BE - Belgio 33
IE - Irlanda 32
CO - Colombia 31
AE - Emirati Arabi Uniti 30
PK - Pakistan 30
JP - Giappone 28
ZA - Sudafrica 28
AT - Austria 27
EC - Ecuador 22
PL - Polonia 22
CR - Costa Rica 21
JM - Giamaica 19
VE - Venezuela 19
CL - Cile 18
MY - Malesia 18
SA - Arabia Saudita 17
BZ - Belize 15
IR - Iran 14
CZ - Repubblica Ceca 13
HN - Honduras 13
MA - Marocco 13
CH - Svizzera 12
DZ - Algeria 12
EG - Egitto 12
JO - Giordania 12
LT - Lituania 12
PH - Filippine 12
TN - Tunisia 12
KE - Kenya 11
TH - Thailandia 11
PY - Paraguay 10
DO - Repubblica Dominicana 9
AU - Australia 8
GT - Guatemala 8
PE - Perù 8
PR - Porto Rico 8
SV - El Salvador 8
TW - Taiwan 8
AL - Albania 7
NP - Nepal 7
AZ - Azerbaigian 6
BY - Bielorussia 6
RO - Romania 6
SK - Slovacchia (Repubblica Slovacca) 6
SN - Senegal 6
TT - Trinidad e Tobago 6
UY - Uruguay 6
UZ - Uzbekistan 6
BB - Barbados 5
IL - Israele 5
OM - Oman 5
SC - Seychelles 5
BH - Bahrain 4
CW - ???statistics.table.value.countryCode.CW??? 4
EE - Estonia 4
NI - Nicaragua 4
SI - Slovenia 4
XK - ???statistics.table.value.countryCode.XK??? 4
DK - Danimarca 3
ET - Etiopia 3
EU - Europa 3
GP - Guadalupe 3
GR - Grecia 3
KG - Kirghizistan 3
KZ - Kazakistan 3
LB - Libano 3
PA - Panama 3
PT - Portogallo 3
RS - Serbia 3
AO - Angola 2
BA - Bosnia-Erzegovina 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
MK - Macedonia 2
Totale 24.884
Salva come PNG Salva come JPEG
Città #
Ashburn 1.547
Fairfield 1.224
Santa Clara 1.179
Singapore 1.124
Southend 967
Hong Kong 738
Woodbridge 735
Houston 714
San Jose 645
Sunnyvale 622
Chandler 502
Seattle 440
Council Bluffs 422
Jacksonville 402
Hefei 381
Wilmington 380
Cambridge 372
Ann Arbor 368
Beijing 259
Nyköping 246
Dearborn 235
London 233
Modena 225
Ho Chi Minh City 186
Los Angeles 174
Chicago 157
New York 145
Helsinki 135
Hanoi 134
Munich 132
The Dalles 132
Boardman 130
San Diego 123
Seoul 110
Izmir 103
Princeton 102
Milan 101
Sofia 90
Dallas 76
Eugene 75
Lauterbourg 72
Shanghai 65
São Paulo 65
Buffalo 62
Jakarta 62
Salt Lake City 59
Bologna 56
Moscow 54
Columbus 53
Rome 52
Frankfurt am Main 41
Atlanta 35
North Bergen 34
Orem 33
Da Nang 30
Redwood City 30
Brussels 27
Bremen 25
Florence 25
Fremont 25
San Mateo 25
Toronto 25
Phoenix 24
Dublin 23
Falls Church 23
Denver 22
Kent 22
Naples 22
Augusta 21
Brooklyn 21
Elk Grove Village 21
Haiphong 21
Nuremberg 21
Tampa 21
Dong Ket 20
Madrid 20
Reggio Emilia 20
Des Moines 19
Guangzhou 19
Montreal 19
Tokyo 19
Rio de Janeiro 18
Boston 17
La Teste-de-Buch 17
Curitiba 16
Johannesburg 16
Redondo Beach 16
San José 16
Belize City 15
Calgary 15
Chennai 15
Las Vegas 15
Norwalk 15
Padova 15
San Francisco 15
Vienna 15
Warsaw 15
Mexico City 14
Turin 14
Baghdad 13
Totale 17.710
Salva come PNG Salva come JPEG
Nome #
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 1.067
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 493
A 5-year clinical follow-up study from the Italian National Registry for FSHD 417
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 393
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 386
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 365
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 362
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 360
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 344
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 342
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1) 342
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 339
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 329
An analysis of Xq deletions 327
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 325
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 325
Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of myopathy: understanding the mechanisms leading to disease. 324
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 313
Altered gene silencing and human diseases 306
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 303
Characterization of the R7S mutation of Heat Shock Protein HSPB3 and of two novel mutations found in patients suffering of myopathy: understanding the mechanisms leading to disease. 301
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 298
An integrated approach in a case of facioscapulohumeral dystrophy 291
CHARACTERIZATION OF THE R7S MUTATION OF HEAT SHOCK PROTEIN HSPB3 AND TWO NOVEL MUTATIONS FOUND IN PATIENTS SUFFERING OF MYOPATHY: UNDERSTANDING THE MECHANISMS LEADING TO DISEASE. 291
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 287
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 284
The genetic basis of undiagnosed muscular dystrophies and myopathies 280
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 279
Facioscapulohumeral muscular dystrophy: more complex than it appears 279
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 278
A novel mechanism for the origin of supernumerary marker chromosomes 278
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 275
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying heterozygous CAV3 T78M mutation and D4Z4 partial deletion: further evidence for “double trouble” overlapping syndromes 270
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 269
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 264
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 263
Comment on 'Huntington's disease presenting as ALS' 262
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 260
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 259
The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease 259
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 258
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 257
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 252
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 252
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 250
Interphase cytogenetics of the ICF syndrome 248
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 246
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 246
Involvement of 9q22.1-31.3 region in pyloric stenosis 245
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 244
Ring chromosome 9 with a 9p22.3-p24.3 duplication 243
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 243
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 243
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 240
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 240
Transcriptional derepression as a cause of genetic diseases 238
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 238
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 238
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 229
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 226
Molecular basis of facioscapulohumeral muscular dystrophy 225
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 223
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 222
Balanced autosomal translocation and ovarian dysgenesis 218
Does DNA Methylation Matter in FSHD? 217
Factors predicting disease progression in C9ORF72 ALS patients 213
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 212
Response [NEUROMUSCULAR DISORDERS] 208
Regional assignment of the loci for adenilate kinase to 9q32 and for a-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter? 206
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 205
Expressing the human Genome 204
Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A “triple trouble” case report and review of the literature on the association of MS and muscle disorders 204
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 203
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 202
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 202
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 202
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 200
Mosaicism in Human Health and Disease 197
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 193
The FSHD jigsaw: are we placing the tiles in the right position? 192
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 192
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 191
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 190
Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene 190
FSHD: a disorder of muscle gene derepression. 186
Molecular analysis of a Y;1 translocation in an azoospermic male 175
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 174
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 173
The Psychological Burden of Neuromuscular Diseases: A Narrative Review of Anxiety, Depression, Coping, and Quality of Life 164
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 156
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 154
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 140
Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length 137
Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study 122
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients 120
Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis 110
A nucleolar view of neuromuscular disease 67
Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats 57
Everything, everywhere: FSHD as a model for complex genetic disease 36
Totale 25.047
Salva come PNG Salva come JPEG
Categoria #
all - tutte 96.850
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 96.850
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.115 0 0 0 0 42 93 103 92 179 132 295 179
2022/20231.570 142 134 166 126 203 196 20 165 237 29 70 82
2023/20241.161 47 76 62 125 190 53 145 128 45 45 48 197
2024/20253.886 140 65 34 262 796 564 347 295 418 131 366 468
2025/20266.827 428 314 543 793 1.041 532 743 351 706 579 515 282
2026/20272.930 235 1.185 580 839 91 0 0 0 0 0 0 0
Totale 25.047