TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 7.406
EU - Europa 2.926
AS - Asia 696
SA - Sud America 7
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 1
Totale 11.045
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Nazione #
US - Stati Uniti d'America 7.380
GB - Regno Unito 1.130
IT - Italia 643
SE - Svezia 347
HK - Hong Kong 257
CN - Cina 222
DE - Germania 208
UA - Ucraina 193
TR - Turchia 125
FI - Finlandia 99
FR - Francia 91
BG - Bulgaria 86
ES - Italia 25
BE - Belgio 24
VN - Vietnam 24
IE - Irlanda 23
IN - India 21
BZ - Belize 15
NL - Olanda 15
IR - Iran 13
RU - Federazione Russa 12
CA - Canada 10
MY - Malesia 10
CH - Svizzera 9
JP - Giappone 8
KR - Corea 7
AT - Austria 6
RO - Romania 5
BR - Brasile 4
SG - Singapore 4
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
CZ - Repubblica Ceca 1
EG - Egitto 1
IL - Israele 1
KW - Kuwait 1
LV - Lettonia 1
ME - Montenegro 1
PA - Panama 1
PK - Pakistan 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
TW - Taiwan 1
Totale 11.045
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Città #
Fairfield 1.224
Southend 967
Woodbridge 735
Houston 694
Ashburn 637
Chandler 502
Seattle 427
Jacksonville 398
Cambridge 371
Ann Arbor 368
Wilmington 368
Hong Kong 254
Nyköping 246
Dearborn 235
Modena 171
San Diego 120
Beijing 106
Izmir 102
Princeton 97
Sofia 86
Eugene 74
New York 46
San Jose 35
Helsinki 34
London 33
Milan 33
Bologna 32
Redwood City 30
Rome 28
Boardman 26
Bremen 25
Fremont 25
San Mateo 25
Brussels 23
Falls Church 23
Dong Ket 20
Shanghai 19
Dublin 18
Augusta 17
Belize City 15
Des Moines 15
Padova 15
Norwalk 14
Hefei 13
Chicago 12
Madrid 12
Turin 12
Kilburn 11
Reggio Emilia 11
Ardabil 10
Florence 10
Frankfurt am Main 10
Saint Louis 10
Spilamberto 9
Indiana 8
Mountain View 8
El Espinar 7
Kunming 7
Las Vegas 7
Leawood 7
Los Angeles 7
Nanjing 7
Albuquerque 6
Dallas 6
Phoenix 6
Prescot 6
Toronto 6
Trieste 6
Vienna 6
Albignasego 5
Brescia 5
Carpi 5
Castel San Giovanni 5
Chiswick 5
Frattamaggiore 5
Newcastle Upon Tyne 5
Roncoferraro 5
Salt Lake City 5
Seoul 5
Southwark 5
Verona 5
Wuhan 5
Acton 4
Bangalore 4
Basel 4
Bentivoglio 4
Berlin 4
Calcinaia 4
Hanover 4
Islington 4
Nanchang 4
Porto Mantovano 4
Saint-Fons 4
Tokyo 4
Tolentino 4
Venezia 4
Wandsworth 4
Ancona 3
Arezzo 3
Casalecchio Di Reno 3
Totale 9.087
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 294
A 5-year clinical follow-up study from the Italian National Registry for FSHD 256
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 229
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 223
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 206
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 201
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 184
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 179
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 175
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 172
The genetic basis of undiagnosed muscular dystrophies and myopathies 171
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 168
An integrated approach in a case of facioscapulohumeral dystrophy 165
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). 165
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 164
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 163
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 161
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 160
Altered gene silencing and human diseases 158
Comment on 'Huntington's disease presenting as ALS' 156
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 155
Facioscapulohumeral muscular dystrophy: more complex than it appears 154
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 152
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 147
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 146
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 146
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 144
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 143
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 138
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 134
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 134
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 133
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 133
Involvement of 9q22.1-31.3 region in pyloric stenosis 130
Interphase cytogenetics of the ICF syndrome 130
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 130
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 129
A novel mechanism for the origin of supernumerary marker chromosomes 129
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 129
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 129
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 128
Ring chromosome 9 with a 9p22.3-p24.3 duplication 128
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 128
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 127
Transcriptional derepression as a cause of genetic diseases 126
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 125
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 125
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 123
Molecular basis of facioscapulohumeral muscular dystrophy 120
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 120
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 120
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 120
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 120
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. 115
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 114
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. 112
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. 112
Does DNA Methylation Matter in FSHD? 112
Response [NEUROMUSCULAR DISORDERS] 108
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 106
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 99
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 98
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 97
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 97
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 96
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 95
Expressing the human Genome 94
An analysis of Xq deletions 91
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 91
FSHD: a disorder of muscle gene derepression. 90
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 89
Balanced autosomal translocation and ovarian dysgenesis 83
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 83
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 82
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 80
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 79
The FSHD jigsaw: are we placing the tiles in the right position? 78
Molecular analysis of a Y;1 translocation in an azoospermic male 72
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 72
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 72
Mosaicism in Human Health and Disease 70
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? 69
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 69
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 64
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 63
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 50
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 42
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 37
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 23
Factors predicting disease progression in C9ORF72 ALS patients 19
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 12
Totale 11.160
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Categoria #
all - tutte 46.071
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 46.071
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019721 0 0 0 0 0 0 0 0 0 0 352 369
2019/20202.435 203 92 70 206 291 409 308 261 192 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
2023/2024917 47 76 62 125 190 53 145 128 45 45 1 0
Totale 11.160