TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 7.977
EU - Europa 3.069
AS - Asia 1.226
SA - Sud America 11
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 1
Totale 12.293
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Nazione #
US - Stati Uniti d'America 7.949
GB - Regno Unito 1.132
IT - Italia 743
SG - Singapore 373
SE - Svezia 347
CN - Cina 346
HK - Hong Kong 257
DE - Germania 220
UA - Ucraina 193
TR - Turchia 125
FI - Finlandia 104
FR - Francia 91
BG - Bulgaria 86
ID - Indonesia 34
ES - Italia 27
BE - Belgio 24
VN - Vietnam 24
IE - Irlanda 23
IN - India 21
NL - Olanda 16
BZ - Belize 15
RU - Federazione Russa 15
IR - Iran 13
CZ - Repubblica Ceca 12
CA - Canada 11
MY - Malesia 11
CH - Svizzera 9
BR - Brasile 8
JP - Giappone 8
AT - Austria 7
KR - Corea 7
LT - Lituania 5
RO - Romania 5
AU - Australia 3
CL - Cile 3
EU - Europa 3
GR - Grecia 2
NZ - Nuova Zelanda 2
PL - Polonia 2
A1 - Anonimo 1
AE - Emirati Arabi Uniti 1
AL - Albania 1
AZ - Azerbaigian 1
DK - Danimarca 1
EG - Egitto 1
IL - Israele 1
KG - Kirghizistan 1
KW - Kuwait 1
LV - Lettonia 1
ME - Montenegro 1
MX - Messico 1
PA - Panama 1
PK - Pakistan 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
Totale 12.293
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Città #
Fairfield 1.224
Southend 967
Woodbridge 735
Houston 694
Ashburn 647
Chandler 502
Santa Clara 461
Seattle 427
Jacksonville 398
Cambridge 371
Ann Arbor 368
Wilmington 368
Singapore 288
Hong Kong 254
Nyköping 246
Dearborn 235
Modena 201
San Diego 120
Beijing 108
Izmir 102
Boardman 99
Princeton 97
Sofia 86
Eugene 74
New York 46
Milan 40
Helsinki 37
Rome 36
Bologna 35
San Jose 35
Shanghai 34
London 33
Redwood City 30
Jakarta 28
Bremen 25
Fremont 25
San Mateo 25
Brussels 23
Falls Church 23
Dong Ket 20
Dublin 18
Augusta 17
Belize City 15
Des Moines 15
Padova 15
Frankfurt am Main 14
Hefei 14
Madrid 14
Norwalk 14
Reggio Emilia 13
Turin 13
Chicago 12
Kilburn 11
Ardabil 10
Brno 10
Florence 10
Saint Louis 10
Dallas 9
Spilamberto 9
Indiana 8
Kunming 8
Mountain View 8
Munich 8
Nanjing 8
Wuhan 8
El Espinar 7
Las Vegas 7
Leawood 7
Los Angeles 7
Albuquerque 6
Guangzhou 6
Jayapura 6
Phoenix 6
Prescot 6
Toronto 6
Trieste 6
Vienna 6
Albignasego 5
Berlin 5
Brescia 5
Carpi 5
Castel San Giovanni 5
Chiswick 5
Frattamaggiore 5
Newcastle Upon Tyne 5
Pavia 5
Roncoferraro 5
Salt Lake City 5
Sassuolo 5
Seoul 5
Southwark 5
Verona 5
Acton 4
Bangalore 4
Basel 4
Bentivoglio 4
Calcinaia 4
Hanover 4
Islington 4
Nanchang 4
Totale 10.041
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 314
A 5-year clinical follow-up study from the Italian National Registry for FSHD 278
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 246
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 237
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 225
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 213
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 199
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 194
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 190
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 185
The genetic basis of undiagnosed muscular dystrophies and myopathies 183
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 183
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 179
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 177
An integrated approach in a case of facioscapulohumeral dystrophy 176
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). 176
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 175
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 174
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 173
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 173
Facioscapulohumeral muscular dystrophy: more complex than it appears 172
Altered gene silencing and human diseases 171
Comment on 'Huntington's disease presenting as ALS' 169
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 162
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 158
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 157
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 156
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 152
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 147
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 147
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 145
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 144
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 144
Involvement of 9q22.1-31.3 region in pyloric stenosis 142
A novel mechanism for the origin of supernumerary marker chromosomes 142
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 142
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. 142
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 141
Ring chromosome 9 with a 9p22.3-p24.3 duplication 140
Interphase cytogenetics of the ICF syndrome 140
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 140
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 140
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 140
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 139
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 139
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 139
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 137
Transcriptional derepression as a cause of genetic diseases 137
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 135
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 133
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. 132
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 132
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 131
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 131
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 129
Molecular basis of facioscapulohumeral muscular dystrophy 128
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. 127
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 126
Does DNA Methylation Matter in FSHD? 125
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 121
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 119
Response [NEUROMUSCULAR DISORDERS] 118
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 112
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 110
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 108
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 106
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 106
Expressing the human Genome 104
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 104
An analysis of Xq deletions 103
FSHD: a disorder of muscle gene derepression. 103
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 97
Balanced autosomal translocation and ovarian dysgenesis 95
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 95
The FSHD jigsaw: are we placing the tiles in the right position? 93
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 89
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 89
Molecular analysis of a Y;1 translocation in an azoospermic male 83
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 83
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 82
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 82
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? 81
Mosaicism in Human Health and Disease 79
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 77
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 74
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 62
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 61
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 55
Factors predicting disease progression in C9ORF72 ALS patients 42
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 36
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 36
Totale 12.408
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Categoria #
all - tutte 55.172
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 55.172
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.864 0 0 0 0 291 409 308 261 192 80 219 104
2020/20212.270 166 55 193 228 210 219 233 280 108 238 213 127
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
2024/20251.004 140 65 34 262 503 0 0 0 0 0 0 0
Totale 12.408