TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 9.861
EU - Europa 4.028
AS - Asia 3.854
SA - Sud America 587
AF - Africa 60
Continente sconosciuto - Info sul continente non disponibili 5
OC - Oceania 5
Totale 18.400
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Nazione #
US - Stati Uniti d'America 9.782
GB - Regno Unito 1.355
SG - Singapore 1.294
CN - Cina 1.182
IT - Italia 893
HK - Hong Kong 681
BR - Brasile 495
SE - Svezia 399
DE - Germania 393
VN - Vietnam 232
UA - Ucraina 215
RU - Federazione Russa 190
FI - Finlandia 167
TR - Turchia 144
FR - Francia 109
BG - Bulgaria 88
ID - Indonesia 77
KR - Corea 74
IN - India 45
AR - Argentina 42
ES - Italia 37
CA - Canada 31
NL - Olanda 31
BE - Belgio 27
AT - Austria 26
IE - Irlanda 25
ZA - Sudafrica 19
BD - Bangladesh 18
MX - Messico 18
JP - Giappone 17
BZ - Belize 15
IR - Iran 14
EC - Ecuador 13
PK - Pakistan 13
PL - Polonia 13
CO - Colombia 12
CZ - Repubblica Ceca 12
MY - Malesia 12
IQ - Iraq 11
CH - Svizzera 10
LT - Lituania 10
MA - Marocco 10
AE - Emirati Arabi Uniti 9
EG - Egitto 9
CL - Cile 7
PE - Perù 6
TN - Tunisia 6
DO - Repubblica Dominicana 5
KE - Kenya 5
RO - Romania 5
VE - Venezuela 5
AL - Albania 4
PY - Paraguay 4
SK - Slovacchia (Repubblica Slovacca) 4
UZ - Uzbekistan 4
AU - Australia 3
AZ - Azerbaigian 3
DZ - Algeria 3
EU - Europa 3
GR - Grecia 3
JO - Giordania 3
PA - Panama 3
SA - Arabia Saudita 3
SN - Senegal 3
UY - Uruguay 3
CR - Costa Rica 2
DK - Danimarca 2
IL - Israele 2
JM - Giamaica 2
KG - Kirghizistan 2
LA - Repubblica Popolare Democratica del Laos 2
ML - Mali 2
NP - Nepal 2
NZ - Nuova Zelanda 2
OM - Oman 2
A1 - Anonimo 1
AM - Armenia 1
AO - Angola 1
BH - Bahrain 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
IS - Islanda 1
KW - Kuwait 1
KZ - Kazakistan 1
LV - Lettonia 1
MD - Moldavia 1
ME - Montenegro 1
MK - Macedonia 1
MN - Mongolia 1
MQ - Martinica 1
NO - Norvegia 1
PH - Filippine 1
PT - Portogallo 1
RS - Serbia 1
SD - Sudan 1
TH - Thailandia 1
TW - Taiwan 1
Totale 18.399
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Città #
Fairfield 1.224
Santa Clara 1.070
Southend 967
Singapore 884
Ashburn 877
Woodbridge 735
Houston 703
Hong Kong 678
Chandler 502
Seattle 429
Jacksonville 398
Hefei 381
Wilmington 376
Cambridge 371
Ann Arbor 368
Nyköping 246
Dearborn 235
London 223
Beijing 219
Modena 219
Munich 132
San Diego 120
Los Angeles 114
Chicago 108
Izmir 102
Boardman 101
Princeton 97
Sofia 88
Helsinki 79
Ho Chi Minh City 75
New York 75
Eugene 74
Seoul 72
Council Bluffs 67
Jakarta 61
Shanghai 61
The Dalles 57
Moscow 52
Buffalo 51
Milan 51
São Paulo 51
Bologna 50
Hanoi 48
Salt Lake City 44
Dallas 39
Rome 37
San Jose 35
Frankfurt am Main 34
Redwood City 30
Bremen 25
Fremont 25
San Mateo 25
Brussels 24
Columbus 23
Falls Church 23
Kent 22
Dong Ket 20
Dublin 20
Nuremberg 20
Reggio Emilia 20
Augusta 17
Guangzhou 17
Curitiba 16
Elk Grove Village 16
Redondo Beach 16
Tampa 16
Belize City 15
Des Moines 15
Madrid 15
Padova 15
Rio de Janeiro 15
Vienna 15
Norwalk 14
Florence 13
Formigine 13
Turin 13
Johannesburg 12
Stockholm 12
Turku 12
Atlanta 11
Boston 11
Denver 11
Kilburn 11
Porto Alegre 11
Ardabil 10
Brno 10
Brooklyn 10
Parma 10
Saint Louis 10
Sterling 10
Tokyo 10
Toronto 10
Warsaw 10
Belo Horizonte 9
Kunming 9
Mexico City 9
Nanjing 9
Sheffield 9
Spilamberto 9
Da Nang 8
Totale 13.841
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 419
A 5-year clinical follow-up study from the Italian National Registry for FSHD 352
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 330
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 325
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 311
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 307
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 302
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 277
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 272
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 270
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 267
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 257
Altered gene silencing and human diseases 247
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1) 247
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 245
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 245
An analysis of Xq deletions 243
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 239
The genetic basis of undiagnosed muscular dystrophies and myopathies 238
An integrated approach in a case of facioscapulohumeral dystrophy 235
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 232
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 230
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 229
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 229
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. 228
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 226
Facioscapulohumeral muscular dystrophy: more complex than it appears 226
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 224
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 223
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. 220
Comment on 'Huntington's disease presenting as ALS' 220
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 217
A novel mechanism for the origin of supernumerary marker chromosomes 216
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. 210
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 210
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 205
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 203
Involvement of 9q22.1-31.3 region in pyloric stenosis 202
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 200
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 200
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 199
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 198
Ring chromosome 9 with a 9p22.3-p24.3 duplication 197
Interphase cytogenetics of the ICF syndrome 197
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 192
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 191
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 189
Molecular basis of facioscapulohumeral muscular dystrophy 189
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 189
Transcriptional derepression as a cause of genetic diseases 188
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 188
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 188
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 188
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 187
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 185
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 185
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 184
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 184
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 179
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 179
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 177
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 177
Does DNA Methylation Matter in FSHD? 171
Balanced autosomal translocation and ovarian dysgenesis 170
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 170
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 170
Response [NEUROMUSCULAR DISORDERS] 167
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 165
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 160
The FSHD jigsaw: are we placing the tiles in the right position? 159
Expressing the human Genome 157
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 157
FSHD: a disorder of muscle gene derepression. 150
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 149
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? 149
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 147
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 144
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 142
Molecular analysis of a Y;1 translocation in an azoospermic male 140
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 138
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 137
Mosaicism in Human Health and Disease 137
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 136
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 133
Factors predicting disease progression in C9ORF72 ALS patients 127
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 120
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 118
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 115
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 112
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 109
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 107
Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length 98
Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study 67
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients 51
Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis 46
Totale 18.526
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Categoria #
all - tutte 76.535
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 76.535
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.418 0 0 0 0 0 219 233 280 108 238 213 127
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
2025/20263.236 428 314 543 793 1.041 117 0 0 0 0 0 0
Totale 18.526