TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 10.868
AS - Asia 5.047
EU - Europa 4.390
SA - Sud America 749
AF - Africa 106
Continente sconosciuto - Info sul continente non disponibili 8
OC - Oceania 6
Totale 21.174
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Nazione #
US - Stati Uniti d'America 10.739
SG - Singapore 1.641
GB - Regno Unito 1.393
CN - Cina 1.298
IT - Italia 959
HK - Hong Kong 738
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
TR - Turchia 161
KR - Corea 116
IN - India 100
BG - Bulgaria 91
ID - Indonesia 84
AR - Argentina 60
BD - Bangladesh 53
CA - Canada 47
IQ - Iraq 47
ES - Italia 43
NL - Olanda 40
MX - Messico 36
BE - Belgio 31
AE - Emirati Arabi Uniti 30
PK - Pakistan 30
IE - Irlanda 29
AT - Austria 27
CO - Colombia 27
ZA - Sudafrica 27
JP - Giappone 26
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
NP - Nepal 7
PE - Perù 7
AZ - Azerbaigian 6
RO - Romania 6
SN - Senegal 6
UY - Uruguay 6
UZ - Uzbekistan 6
BY - Bielorussia 5
JM - Giamaica 5
OM - Oman 5
AU - Australia 4
BH - Bahrain 4
SK - Slovacchia (Repubblica Slovacca) 4
XK - ???statistics.table.value.countryCode.XK??? 4
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
BB - Barbados 1
BN - Brunei Darussalam 1
CI - Costa d'Avorio 1
GA - Gabon 1
Totale 21.155
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Città #
Fairfield 1.224
Singapore 1.111
Santa Clara 1.099
Ashburn 1.038
Southend 967
Woodbridge 735
Hong Kong 730
Houston 708
Chandler 502
Seattle 430
Jacksonville 401
Hefei 381
Wilmington 377
Cambridge 371
Ann Arbor 368
San Jose 350
Beijing 253
Nyköping 246
Dearborn 235
London 231
Modena 225
Ho Chi Minh City 185
Council Bluffs 142
Chicago 138
Helsinki 135
Los Angeles 135
Hanoi 132
Munich 132
San Diego 120
The Dalles 116
Seoul 110
Izmir 103
Boardman 101
Princeton 97
Sofia 89
New York 86
Eugene 74
Lauterbourg 72
Milan 65
Shanghai 63
Jakarta 62
São Paulo 61
Bologna 54
Moscow 54
Salt Lake City 54
Buffalo 51
Dallas 46
Frankfurt am Main 41
Rome 38
Da Nang 30
Redwood City 30
Orem 29
Columbus 27
Brussels 26
Bremen 25
Fremont 25
San Mateo 25
Dublin 23
Falls Church 23
Kent 22
Haiphong 21
Nuremberg 21
Dong Ket 20
Elk Grove Village 20
Reggio Emilia 20
Guangzhou 19
Tampa 19
Atlanta 18
Augusta 18
Tokyo 18
La Teste-de-Buch 17
Madrid 17
Rio de Janeiro 17
Curitiba 16
Denver 16
Des Moines 16
Florence 16
Redondo Beach 16
Belize City 15
Chennai 15
Johannesburg 15
Norwalk 15
Padova 15
Vienna 15
Warsaw 14
Baghdad 13
Boston 13
Formigine 13
Manchester 13
Mexico City 13
Stockholm 13
Turin 13
Brooklyn 12
Dhaka 12
Hải Dương 12
Istanbul 12
Porto Alegre 12
Turku 12
Amman 11
Amsterdam 11
Totale 15.437
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 461
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 386
A 5-year clinical follow-up study from the Italian National Registry for FSHD 384
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 361
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 344
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. 330
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 316
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 316
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 312
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 303
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1) 295
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 294
An analysis of Xq deletions 286
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 285
Altered gene silencing and human diseases 277
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 274
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 272
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 268
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 266
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. 265
An integrated approach in a case of facioscapulohumeral dystrophy 264
The genetic basis of undiagnosed muscular dystrophies and myopathies 260
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 259
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 258
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 257
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 256
A novel mechanism for the origin of supernumerary marker chromosomes 253
Facioscapulohumeral muscular dystrophy: more complex than it appears 253
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. 253
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. 249
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 246
Comment on 'Huntington's disease presenting as ALS' 246
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 242
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 240
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 232
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 232
Involvement of 9q22.1-31.3 region in pyloric stenosis 229
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 229
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 229
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 228
Interphase cytogenetics of the ICF syndrome 226
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 224
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 222
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 222
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 221
Ring chromosome 9 with a 9p22.3-p24.3 duplication 220
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 220
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 219
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 212
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 212
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 211
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 210
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 209
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 207
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 207
Molecular basis of facioscapulohumeral muscular dystrophy 206
Transcriptional derepression as a cause of genetic diseases 206
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 201
Does DNA Methylation Matter in FSHD? 201
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 201
Balanced autosomal translocation and ovarian dysgenesis 199
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 199
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 198
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 197
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 190
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 188
Response [NEUROMUSCULAR DISORDERS] 187
Expressing the human Genome 186
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 182
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 178
The FSHD jigsaw: are we placing the tiles in the right position? 177
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 177
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 173
Factors predicting disease progression in C9ORF72 ALS patients 171
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 169
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 167
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 167
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 167
FSHD: a disorder of muscle gene derepression. 164
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 163
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? 162
Mosaicism in Human Health and Disease 154
Molecular analysis of a Y;1 translocation in an azoospermic male 153
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 153
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 153
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 148
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 139
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 129
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 128
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 125
Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length 120
Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study 93
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients 88
Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis 75
The Psychological Burden of Neuromuscular Diseases: A Narrative Review of Anxiety, Depression, Coping, and Quality of Life 50
Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats 26
Totale 21.303
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Categoria #
all - tutte 82.155
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 82.155
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021578 0 0 0 0 0 0 0 0 0 238 213 127
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
2025/20266.013 428 314 543 793 1.041 532 743 351 706 562 0 0
Totale 21.303