SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 10.648
AS - Asia 4.723
EU - Europa 3.714
SA - Sud America 905
AF - Africa 103
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 3
AN - Antartide 1
Totale 20.105
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Nazione #
US - Stati Uniti d'America 10.416
SG - Singapore 2.072
CN - Cina 1.304
DE - Germania 830
BR - Brasile 774
PL - Polonia 637
IT - Italia 499
UA - Ucraina 418
GB - Regno Unito 386
HK - Hong Kong 382
VN - Vietnam 320
FI - Finlandia 271
TR - Turchia 261
SE - Svezia 186
RU - Federazione Russa 157
CA - Canada 123
IN - India 87
MX - Messico 87
ID - Indonesia 71
AR - Argentina 59
BE - Belgio 55
NL - Olanda 53
JP - Giappone 49
ZA - Sudafrica 49
ES - Italia 43
FR - Francia 35
CZ - Repubblica Ceca 32
BD - Bangladesh 29
LT - Lituania 28
AT - Austria 27
IQ - Iraq 25
LK - Sri Lanka 18
CO - Colombia 17
MA - Marocco 17
EC - Ecuador 16
VE - Venezuela 16
UZ - Uzbekistan 15
PK - Pakistan 12
AE - Emirati Arabi Uniti 9
IE - Irlanda 9
IR - Iran 9
CL - Cile 8
DZ - Algeria 8
JO - Giordania 8
SA - Arabia Saudita 8
EG - Egitto 7
RO - Romania 7
BY - Bielorussia 6
CH - Svizzera 6
NP - Nepal 6
PY - Paraguay 6
TN - Tunisia 6
AZ - Azerbaigian 5
IL - Israele 5
KE - Kenya 5
OM - Oman 5
PA - Panama 5
AU - Australia 4
HU - Ungheria 4
KG - Kirghizistan 4
MK - Macedonia 4
PE - Perù 4
UY - Uruguay 4
BG - Bulgaria 3
CR - Costa Rica 3
LB - Libano 3
MY - Malesia 3
NI - Nicaragua 3
NZ - Nuova Zelanda 3
PH - Filippine 3
SI - Slovenia 3
XK - ???statistics.table.value.countryCode.XK??? 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
DO - Repubblica Dominicana 2
GT - Guatemala 2
LV - Lettonia 2
NG - Nigeria 2
PS - Palestinian Territory 2
QA - Qatar 2
RS - Serbia 2
SN - Senegal 2
TW - Taiwan 2
AL - Albania 1
AQ - Antartide 1
BO - Bolivia 1
CI - Costa d'Avorio 1
CM - Camerun 1
CY - Cipro 1
DK - Danimarca 1
EE - Estonia 1
ET - Etiopia 1
GA - Gabon 1
GD - Grenada 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KH - Cambogia 1
KR - Corea 1
Totale 20.094
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Città #
Ashburn 1.200
Singapore 1.162
Fairfield 1.107
Woodbridge 868
Chandler 661
Warsaw 628
Houston 615
Ann Arbor 549
Beijing 543
Jacksonville 440
Seattle 431
Santa Clara 420
Hong Kong 382
Munich 369
Wilmington 359
Cambridge 351
Los Angeles 261
New York 216
Dallas 183
Izmir 142
Princeton 118
Ho Chi Minh City 117
Nanjing 111
Ferrara 108
Helsinki 96
Milan 90
San Diego 90
Shanghai 89
Turku 85
Boardman 82
São Paulo 78
Bremen 77
London 71
Buffalo 70
Hanoi 57
Jakarta 56
Brooklyn 53
Mexico City 52
Chicago 49
Tokyo 48
Brussels 45
Dearborn 45
Shenyang 44
Montreal 41
Denver 40
Hefei 40
Johannesburg 40
Orem 40
Nanchang 39
Chennai 36
Falls Church 35
Stockholm 35
Tianjin 34
Falkenstein 33
Poplar 33
Toronto 33
Atlanta 32
Bologna 29
Phoenix 29
Changsha 28
Frankfurt am Main 28
San Mateo 28
The Dalles 28
Hebei 26
San Francisco 25
Rio de Janeiro 24
Redwood City 23
Nuremberg 22
Boston 21
Brno 21
Jiaxing 21
Brasília 20
Jinan 18
Norwalk 18
Belo Horizonte 17
Ottawa 17
Washington 17
Council Bluffs 16
Kunming 16
Moscow 16
Ankara 15
Da Nang 15
Amsterdam 14
Columbus 14
Leawood 14
Tashkent 14
Auburn Hills 13
Curitiba 13
Manchester 13
Mountain View 12
Rome 12
Addison 11
Baghdad 11
Mumbai 11
Philadelphia 11
Querétaro 11
Verona 11
Vienna 11
Zhengzhou 11
Charlotte 10
Totale 13.884
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 426
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 385
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 382
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 267
A novel mutation of BEST1 gene in Best disease 263
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 243
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 240
A Family with γ-Thalassemia and High Hb A2 Levels 235
Paternal germline mosaicism in collagen VI related myopathies 233
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 230
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 229
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 227
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 226
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies 213
Exon skipping-mediated dystrophin reading frame restoration for small mutations 212
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 211
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 209
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 208
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 207
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 206
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 206
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 205
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 205
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 204
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 203
Autosomal recessive Bethlem myopathy 202
Mole maker phenotype: possible narrowing of the candidate region. 200
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 199
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 198
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 198
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 196
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 193
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 191
Attualità e nuove prospettive in tema di cardiogenetica 191
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 190
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 189
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 187
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 187
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 186
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 186
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 184
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 183
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 183
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 182
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 180
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 180
MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region 178
Transcriptional behavior of DMD gene duplications in DMD/BMD males 177
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 176
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 173
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 172
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 171
Prevalence of congenital muscular dystrophy in Italy: a population study 170
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 170
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 168
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 167
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 167
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 166
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 165
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 165
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 163
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 163
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 161
T.P.2.07 The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model 161
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 155
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 155
Physical and transcriptional characterization of human urinary stem cell populations 154
An interconnected data infrastructure to support large-scale rare disease research 151
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy 149
DMD gene molecular genetic characterization in Eastern Europe and non European countries 148
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 147
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 145
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 144
Progress in understanding GJB2-linked deafness 143
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 143
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 140
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 140
Predictors of cardiac arrhythmic events in non coronary artery disease patients 137
Report of a novel ATP7A mutation causing distal motor neuropathy 137
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 136
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 135
Duchenne muscular dystrophy and epilepsy 134
Early neurodevelopmental assessment in Duchenne muscular dystrophy 133
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 133
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 133
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 132
null 131
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 129
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 127
Localizzazione preliminare di tumor suppressor genes mediante chromosome transfer. 125
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 125
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 124
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 122
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 121
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 119
Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene 115
Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome? 114
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 113
null 113
Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse 112
Totale 17.907
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Categoria #
all - tutte 95.020
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 582
Totale 95.602
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.008 0 0 0 0 0 165 68 195 50 204 232 94
2021/20221.393 66 96 112 51 79 55 112 66 55 91 148 462
2022/20231.477 131 153 31 186 295 171 66 135 171 15 82 41
2023/2024866 71 98 65 12 67 196 27 59 10 20 19 222
2024/20253.812 71 66 259 183 435 317 254 195 703 381 520 428
2025/20265.385 1.018 359 772 1.181 1.490 565 0 0 0 0 0 0
Totale 20.327