TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 7.481
EU - Europa 2.975
AS - Asia 816
SA - Sud America 7
OC - Oceania 5
Continente sconosciuto - Info sul continente non disponibili 4
AF - Africa 1
Totale 11.289
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Nazione #
US - Stati Uniti d'America 7.455
GB - Regno Unito 1.131
IT - Italia 666
SE - Svezia 347
CN - Cina 279
HK - Hong Kong 257
DE - Germania 214
UA - Ucraina 193
TR - Turchia 125
FI - Finlandia 100
FR - Francia 91
BG - Bulgaria 86
ID - Indonesia 34
SG - Singapore 33
ES - Italia 25
BE - Belgio 24
VN - Vietnam 24
IE - Irlanda 23
IN - India 21
BZ - Belize 15
NL - Olanda 15
RU - Federazione Russa 14
IR - Iran 13
CZ - Repubblica Ceca 12
CA - Canada 10
MY - Malesia 10
CH - Svizzera 9
JP - Giappone 8
KR - Corea 7
AT - Austria 6
LT - Lituania 5
RO - Romania 5
BR - Brasile 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
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 11.289
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Città #
Fairfield 1.224
Southend 967
Woodbridge 735
Houston 694
Ashburn 639
Chandler 502
Seattle 427
Jacksonville 398
Cambridge 371
Ann Arbor 368
Wilmington 368
Hong Kong 254
Nyköping 246
Dearborn 235
Modena 176
San Diego 120
Beijing 108
Izmir 102
Boardman 97
Princeton 97
Sofia 86
Eugene 74
New York 46
Milan 35
San Jose 35
Helsinki 34
Rome 34
London 33
Bologna 32
Redwood City 30
Shanghai 29
Jakarta 28
Bremen 25
Fremont 25
San Mateo 25
Brussels 23
Falls Church 23
Dong Ket 20
Dublin 18
Singapore 18
Augusta 17
Belize City 15
Des Moines 15
Padova 15
Norwalk 14
Hefei 13
Chicago 12
Frankfurt am Main 12
Madrid 12
Turin 12
Kilburn 11
Reggio Emilia 11
Ardabil 10
Brno 10
Florence 10
Saint Louis 10
Spilamberto 9
Indiana 8
Mountain View 8
Nanjing 8
El Espinar 7
Kunming 7
Las Vegas 7
Leawood 7
Los Angeles 7
Albuquerque 6
Dallas 6
Jayapura 6
Munich 6
Phoenix 6
Prescot 6
Toronto 6
Trieste 6
Vienna 6
Wuhan 6
Albignasego 5
Brescia 5
Carpi 5
Castel San Giovanni 5
Chiswick 5
Frattamaggiore 5
Guangzhou 5
Newcastle Upon Tyne 5
Roncoferraro 5
Salt Lake City 5
Sassuolo 5
Seoul 5
Southwark 5
Verona 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
Totale 9.242
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 302
A 5-year clinical follow-up study from the Italian National Registry for FSHD 265
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 235
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 226
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 210
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 203
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 187
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 181
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 177
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 176
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 170
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1). 168
An integrated approach in a case of facioscapulohumeral dystrophy 167
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 167
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 166
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 163
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 163
Altered gene silencing and human diseases 160
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 160
Comment on 'Huntington's disease presenting as ALS' 159
Facioscapulohumeral muscular dystrophy: more complex than it appears 156
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 153
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 153
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 148
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 147
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 139
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 136
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 135
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 134
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 134
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 133
Interphase cytogenetics of the ICF syndrome 132
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 132
Involvement of 9q22.1-31.3 region in pyloric stenosis 131
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 131
A novel mechanism for the origin of supernumerary marker chromosomes 131
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 131
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 130
Ring chromosome 9 with a 9p22.3-p24.3 duplication 130
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 130
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 129
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 128
Transcriptional derepression as a cause of genetic diseases 127
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 127
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 126
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 126
Molecular basis of facioscapulohumeral muscular dystrophy 122
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 122
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 121
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 121
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 117
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. 116
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. 116
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. 115
Does DNA Methylation Matter in FSHD? 114
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 112
Response [NEUROMUSCULAR DISORDERS] 109
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 103
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 103
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 101
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 98
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 98
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 97
Expressing the human Genome 96
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 94
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 94
An analysis of Xq deletions 93
FSHD: a disorder of muscle gene derepression. 91
Balanced autosomal translocation and ovarian dysgenesis 85
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 85
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 83
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 81
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 81
The FSHD jigsaw: are we placing the tiles in the right position? 80
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 74
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 74
Molecular analysis of a Y;1 translocation in an azoospermic male 73
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 72
Mosaicism in Human Health and Disease 71
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? 70
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 66
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 65
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 53
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 46
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 44
Factors predicting disease progression in C9ORF72 ALS patients 28
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 26
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 22
Totale 11.404
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Categoria #
all - tutte 48.393
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 48.393
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019369 0 0 0 0 0 0 0 0 0 0 0 369
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
2023/20241.161 47 76 62 125 190 53 145 128 45 45 48 197
Totale 11.404