TUPLER, Rossella
 Distribuzione geografica
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Continente #
NA - Nord America 11.545
AS - Asia 5.270
EU - Europa 4.545
SA - Sud America 760
Continente sconosciuto - Info sul continente non disponibili 137
AF - Africa 108
OC - Oceania 6
Totale 22.371
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Nazione #
US - Stati Uniti d'America 11.376
SG - Singapore 1.663
GB - Regno Unito 1.394
CN - Cina 1.315
IT - Italia 1.099
HK - Hong Kong 747
BR - Brasile 590
VN - Vietnam 588
DE - Germania 412
SE - Svezia 403
FI - Finlandia 225
UA - Ucraina 224
BD - Bangladesh 220
FR - Francia 216
RU - Federazione Russa 194
TR - Turchia 161
KR - Corea 116
IN - India 101
BG - Bulgaria 92
ID - Indonesia 84
CA - Canada 74
AR - Argentina 62
ES - Italia 47
IQ - Iraq 47
NL - Olanda 42
MX - Messico 36
BE - Belgio 31
AE - Emirati Arabi Uniti 30
PK - Pakistan 30
CO - Colombia 29
IE - Irlanda 29
JP - Giappone 28
AT - Austria 27
ZA - Sudafrica 27
PL - Polonia 22
EC - Ecuador 20
VE - Venezuela 19
MY - Malesia 18
CL - Cile 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
CR - Costa Rica 10
PY - Paraguay 10
TH - Thailandia 10
DO - Repubblica Dominicana 9
JM - Giamaica 9
PE - Perù 8
TW - Taiwan 8
AL - Albania 7
NP - Nepal 7
AZ - Azerbaigian 6
BY - Bielorussia 6
RO - Romania 6
SK - Slovacchia (Repubblica Slovacca) 6
SN - Senegal 6
UY - Uruguay 6
UZ - Uzbekistan 6
OM - Oman 5
AU - Australia 4
BH - Bahrain 4
XK - ???statistics.table.value.countryCode.XK??? 4
BB - Barbados 3
ET - Etiopia 3
EU - Europa 3
GR - Grecia 3
IL - Israele 3
KG - Kirghizistan 3
KZ - Kazakistan 3
PA - Panama 3
PT - Portogallo 3
RS - Serbia 3
AO - Angola 2
BA - Bosnia-Erzegovina 2
DK - Danimarca 2
EE - Estonia 2
GT - Guatemala 2
HN - Honduras 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
PR - Porto Rico 2
SC - Seychelles 2
SI - Slovenia 2
SY - Repubblica araba siriana 2
A1 - Anonimo 1
Totale 22.221
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Città #
Fairfield 1.224
Ashburn 1.145
Santa Clara 1.144
Singapore 1.119
Southend 967
Woodbridge 735
Hong Kong 734
Houston 710
Chandler 502
Seattle 431
San Jose 417
Jacksonville 401
Hefei 381
Wilmington 377
Cambridge 371
Ann Arbor 368
Beijing 258
Nyköping 246
Dearborn 235
London 231
Modena 225
Council Bluffs 215
Ho Chi Minh City 186
Los Angeles 160
Chicago 146
Helsinki 135
Hanoi 134
Munich 132
New York 126
San Diego 122
The Dalles 122
Seoul 110
Boardman 104
Izmir 103
Princeton 97
Milan 93
Sofia 90
Eugene 74
Lauterbourg 72
Shanghai 65
Jakarta 62
São Paulo 61
Dallas 58
Buffalo 57
Bologna 55
Salt Lake City 55
Moscow 54
Rome 46
Frankfurt am Main 41
Columbus 32
Da Nang 30
Orem 30
Redwood City 30
Brussels 26
Atlanta 25
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
Florence 20
Madrid 20
Reggio Emilia 20
Guangzhou 19
Tampa 19
Tokyo 19
Augusta 18
Rio de Janeiro 18
Denver 17
La Teste-de-Buch 17
Curitiba 16
Des Moines 16
Naples 16
Redondo Beach 16
Belize City 15
Brooklyn 15
Chennai 15
Johannesburg 15
Norwalk 15
Padova 15
Toronto 15
Vienna 15
Boston 14
Phoenix 14
Sunnyvale 14
Turin 14
Warsaw 14
Baghdad 13
Formigine 13
Las Vegas 13
Manchester 13
Mexico City 13
Montreal 13
Stockholm 13
Dhaka 12
Totale 15.938
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Nome #
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes 475
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score 416
A 5-year clinical follow-up study from the Italian National Registry for FSHD 397
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry 377
Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function 355
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1 342
Large scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy (FSHD) 339
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype. 338
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy. 329
Early onset facioscapulohumeral dystrophy - a systematic review using individual patient data 323
225th ENMC international workshop:: A global FSHD registry framework, 18–20 November 2016, Heemskerk, The Netherlands 321
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the trem 2 gene 311
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1) 308
An analysis of Xq deletions 304
Role of PD-L1 in licensing immunoregulatory function of dental pulp mesenchymal stem cells 301
Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling. 298
The Italian FSHD registry: An enhanced data integration and analytics framework for smart health care 296
Altered gene silencing and human diseases 289
Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies 283
Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis 281
D4Z4 reduced allele in myopathic subjects with no FSHD phenotype: why inconsistency between molecular and clinical data should prompt us to further investigations. 273
An integrated approach in a case of facioscapulohumeral dystrophy 272
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. 270
The genetic basis of undiagnosed muscular dystrophies and myopathies 269
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 265
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
A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene 263
Facioscapulohumeral muscular dystrophy: more complex than it appears 263
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1) 263
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. 262
A novel mechanism for the origin of supernumerary marker chromosomes 259
Modulation of Cell Death and Promotion of Chondrogenic Differentiation by Fas/FasL in Human Dental Pulp Stem Cells (hDPSCs) 254
Comment on 'Huntington's disease presenting as ALS' 252
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle 251
A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity 248
Engraftment of embryonic stem cell-derived myogenic progenitors in a dominant model of muscular dystrophy. 244
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function 238
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 236
Profound misregulation of muscle-specific gene expression in facioscapulohumeral muscular dystrophy 235
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy 234
A novel but non-pathogenic mutation in exon 4 of the human amyloid precursor protein (APP) gene 233
The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis. 233
Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) 233
Involvement of 9q22.1-31.3 region in pyloric stenosis 232
Interphase cytogenetics of the ICF syndrome 232
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy 232
Ring chromosome 9 with a 9p22.3-p24.3 duplication 229
A locus for migraine without aura maps on chromosome 14q21.2- q22.3. 229
Cerebellar dysgenesis and mental ritardation associated with a complex chromosomal rearrangement. 228
Assessment of amyloid b-protein precursor gene mutations in a large set of familiar and sporadic Alzheimer's disease cases 228
New molecular findings in congenital myopathies due to selenoprotein N gene mutations. 228
Deletion of specific sequences or modification of centromeric chromatin are responsible for Y chromosome centromere inactivation 227
Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia 224
Transcriptional derepression as a cause of genetic diseases 222
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13‐year multidisciplinary approach 221
Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder 219
Structural and functional alterations of muscle fibres in the novel mouse model of facioscapulohumeral muscular dystrophy 216
Molecular basis of facioscapulohumeral muscular dystrophy 215
Molecular genetic evidence for etiologic heterogeneity of Alzheimer’s disease 213
When Enough is Enough: Genetic Diseases Associated with Transcriptional Derepression. 212
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression 206
Does DNA Methylation Matter in FSHD? 205
Genotype-phenotype correlation: The ultimate challenge in facioscapolohumeral muscular dystrophy 204
In vitro 1H and 31P NMR spectroscopy as a tool for investigating muscle energy state in facioscapulohumeral muscolar dystrophy (FSHD) mouse model 201
Balanced autosomal translocation and ovarian dysgenesis 200
Effects of Creatine and Exercise on Skeletal Muscle of FRG1-Transgenic Mice. 198
Expressing the human Genome 196
Response [NEUROMUSCULAR DISORDERS] 193
A complex chromosome re arrangement with 10 breakpionts: tentative assignment of the locus for Williams syndrome to 4q33-q35.1 189
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin 185
Factors predicting disease progression in C9ORF72 ALS patients 184
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy 183
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 183
Muscle Fiber Conduction Velocity Correlates With the Age at Onset in Mild FSHD Cases 182
The FSHD jigsaw: are we placing the tiles in the right position? 181
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy 181
Establishment and characterization of two cell lines derived from human glioblastoma multiforme 180
De novo variants and recombination at 4q35: hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy 180
Increased resistance towards fatigability in patients with facioscapulohumeral muscular dystrophy 179
Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy 176
Differential expression of the ICF (innunodefiency, centromeric heterochromatin, facial anomalies) mutation in lymphocytes and fibroblasts 175
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? 172
FSHD: a disorder of muscle gene derepression. 170
Mosaicism in Human Health and Disease 163
Interference Improves Myopathic Phenotypes in Mice Over-expressing FSHD Region Gene 1 (FRG1). 162
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 158
Molecular analysis of a Y;1 translocation in an azoospermic male 156
Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: A molecular genetics-based epidemiological and genotype-phenotype study 156
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies 145
Paternal origin of the denovo deleted chromosome 4 in wolf-Hirschborn syndrome 132
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome 127
Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length 124
The Psychological Burden of Neuromuscular Diseases: A Narrative Review of Anxiety, Depression, Coping, and Quality of Life 109
Analysis of Body Fluid Distribution, Phase Angle and Its Association With Maximal Oxygen Consumption in Facioscapulohumeral Dystrophy: An Observational Study 105
Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients 96
Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis 92
Rethinking genomics of facioscapulohumeral muscular dystrophy in the telomere-to-telomere era: pitfalls in the hidden landscape of D4Z4 repeats 38
Totale 22.371
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Categoria #
all - tutte 88.834
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 88.834
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.587 0 193 185 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
2025/20266.827 428 314 543 793 1.041 532 743 351 706 579 515 282
2026/2027254 235 19 0 0 0 0 0 0 0 0 0 0
Totale 22.371