TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 11.313
AS - Asia 5.195
EU - Europa 4.503
SA - Sud America 749
AF - Africa 106
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 6
Totale 21.880
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Nazione #
US - Stati Uniti d'America 11.165
SG - Singapore 1.653
GB - Regno Unito 1.393
CN - Cina 1.305
IT - Italia 1.071
HK - Hong Kong 745
VN - Vietnam 585
BR - Brasile 584
DE - Germania 412
SE - Svezia 402
FI - Finlandia 225
UA - Ucraina 224
FR - Francia 214
RU - Federazione Russa 194
BD - Bangladesh 173
TR - Turchia 161
KR - Corea 116
IN - India 101
BG - Bulgaria 91
ID - Indonesia 84
CA - Canada 61
AR - Argentina 60
IQ - Iraq 47
ES - Italia 43
NL - Olanda 41
MX - Messico 36
BE - Belgio 31
AE - Emirati Arabi Uniti 30
PK - Pakistan 30
IE - Irlanda 29
AT - Austria 27
CO - Colombia 27
JP - Giappone 27
ZA - Sudafrica 27
PL - Polonia 22
EC - Ecuador 20
VE - Venezuela 19
CL - Cile 16
MY - Malesia 16
SA - Arabia Saudita 16
BZ - Belize 15
IR - Iran 14
CZ - Repubblica Ceca 13
MA - Marocco 13
CH - Svizzera 12
DZ - Algeria 12
EG - Egitto 12
JO - Giordania 12
PH - Filippine 12
TN - Tunisia 12
KE - Kenya 11
LT - Lituania 11
PY - Paraguay 10
TH - Thailandia 10
DO - Repubblica Dominicana 9
TW - Taiwan 8
AL - Albania 7
CR - Costa Rica 7
JM - Giamaica 7
NP - Nepal 7
PE - Perù 7
AZ - Azerbaigian 6
RO - Romania 6
SN - Senegal 6
UY - Uruguay 6
UZ - Uzbekistan 6
BY - Bielorussia 5
OM - Oman 5
AU - Australia 4
BH - Bahrain 4
SK - Slovacchia (Repubblica Slovacca) 4
XK - ???statistics.table.value.countryCode.XK??? 4
BB - Barbados 3
ET - Etiopia 3
EU - Europa 3
GR - Grecia 3
IL - Israele 3
KG - Kirghizistan 3
KZ - Kazakistan 3
PA - Panama 3
RS - Serbia 3
AO - Angola 2
BA - Bosnia-Erzegovina 2
DK - Danimarca 2
EE - Estonia 2
KW - Kuwait 2
LA - Repubblica Popolare Democratica del Laos 2
LB - Libano 2
MK - Macedonia 2
ML - Mali 2
MN - Mongolia 2
NZ - Nuova Zelanda 2
PT - Portogallo 2
SI - Slovenia 2
SY - Repubblica araba siriana 2
A1 - Anonimo 1
AM - Armenia 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
GA - Gabon 1
Totale 21.860
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Città #
Fairfield 1.224
Ashburn 1.122
Singapore 1.116
Santa Clara 1.108
Southend 967
Woodbridge 735
Hong Kong 732
Houston 709
Chandler 502
Seattle 431
Jacksonville 401
San Jose 399
Hefei 381
Wilmington 377
Cambridge 371
Ann Arbor 368
Beijing 256
Nyköping 246
Dearborn 235
London 231
Modena 225
Council Bluffs 215
Ho Chi Minh City 185
Los Angeles 155
Chicago 143
Helsinki 135
Hanoi 132
Munich 132
New York 121
San Diego 120
The Dalles 119
Seoul 110
Boardman 104
Izmir 103
Princeton 97
Milan 91
Sofia 89
Eugene 74
Lauterbourg 72
Shanghai 63
Jakarta 62
São Paulo 61
Dallas 56
Bologna 55
Buffalo 55
Salt Lake City 55
Moscow 54
Rome 43
Frankfurt am Main 41
Columbus 31
Da Nang 30
Orem 30
Redwood City 30
Brussels 26
Bremen 25
Fremont 25
San Mateo 25
Dublin 23
Falls Church 23
Kent 22
Atlanta 21
Haiphong 21
Nuremberg 21
Dong Ket 20
Elk Grove Village 20
Reggio Emilia 20
Florence 19
Guangzhou 19
Tampa 19
Tokyo 19
Augusta 18
Denver 17
La Teste-de-Buch 17
Madrid 17
Rio de Janeiro 17
Curitiba 16
Des Moines 16
Redondo Beach 16
Belize City 15
Chennai 15
Johannesburg 15
Norwalk 15
Padova 15
Vienna 15
Toronto 14
Turin 14
Warsaw 14
Baghdad 13
Boston 13
Formigine 13
Manchester 13
Mexico City 13
Phoenix 13
Stockholm 13
Brooklyn 12
Dhaka 12
Hải Dương 12
Istanbul 12
Montreal 12
Porto Alegre 12
Totale 15.796
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 471
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 398
A 5-year clinical follow-up study from the Italian National Registry for FSHD 392
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 373
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 352
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 341
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 336
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 335
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 322
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 320
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 320
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 306
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1) 302
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 299
An analysis of Xq deletions 298
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 293
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 291
Altered gene silencing and human diseases 284
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 282
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 281
An integrated approach in a case of facioscapulohumeral dystrophy 270
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 270
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. 268
The genetic basis of undiagnosed muscular dystrophies and myopathies 265
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 263
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 263
Facioscapulohumeral muscular dystrophy: more complex than it appears 262
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. 262
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 260
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. 259
A novel mechanism for the origin of supernumerary marker chromosomes 255
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 252
Comment on 'Huntington's disease presenting as ALS' 248
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 244
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 244
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 238
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 235
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 233
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 233
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 231
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 231
Involvement of 9q22.1-31.3 region in pyloric stenosis 230
Interphase cytogenetics of the ICF syndrome 230
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 230
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 230
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 229
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 228
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 226
Ring chromosome 9 with a 9p22.3-p24.3 duplication 225
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 224
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 224
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 220
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 219
Transcriptional derepression as a cause of genetic diseases 217
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 214
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 214
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 213
Molecular basis of facioscapulohumeral muscular dystrophy 212
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 210
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 208
Does DNA Methylation Matter in FSHD? 204
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 202
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 201
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 201
Balanced autosomal translocation and ovarian dysgenesis 199
Expressing the human Genome 195
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 194
Response [NEUROMUSCULAR DISORDERS] 192
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 189
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 183
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 183
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 180
The FSHD jigsaw: are we placing the tiles in the right position? 179
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 179
Factors predicting disease progression in C9ORF72 ALS patients 179
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 178
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 176
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 172
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 171
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? 168
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 168
FSHD: a disorder of muscle gene derepression. 167
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 166
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 159
Mosaicism in Human Health and Disease 159
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 155
Molecular analysis of a Y;1 translocation in an azoospermic male 154
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 151
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 142
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 129
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 127
Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length 122
Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study 102
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients 91
Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis 87
The Psychological Burden of Neuromuscular Diseases: A Narrative Review of Anxiety, Depression, Coping, and Quality of Life 85
Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats 35
Totale 22.009
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Categoria #
all - tutte 86.072
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 86.072
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021127 0 0 0 0 0 0 0 0 0 0 0 127
2021/20221.695 108 193 185 94 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
2025/20266.719 428 314 543 793 1.041 532 743 351 706 579 515 174
Totale 22.009