SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 8.712
EU - Europa 3.299
AS - Asia 2.405
SA - Sud America 674
AF - Africa 44
OC - Oceania 6
Totale 15.140
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 8.609
SG - Singapore 1.086
DE - Germania 794
CN - Cina 777
BR - Brasile 614
PL - Polonia 599
IT - Italia 428
UA - Ucraina 415
GB - Regno Unito 305
FI - Finlandia 254
TR - Turchia 249
SE - Svezia 158
RU - Federazione Russa 103
CA - Canada 71
BE - Belgio 55
HK - Hong Kong 55
ID - Indonesia 53
IN - India 36
CZ - Repubblica Ceca 32
NL - Olanda 32
FR - Francia 28
VN - Vietnam 28
AT - Austria 23
AR - Argentina 20
LK - Sri Lanka 18
LT - Lituania 17
BD - Bangladesh 14
ES - Italia 14
IQ - Iraq 14
MX - Messico 14
ZA - Sudafrica 14
EC - Ecuador 11
JP - Giappone 10
CO - Colombia 9
MA - Marocco 9
UZ - Uzbekistan 9
DZ - Algeria 8
IR - Iran 8
PK - Pakistan 8
SA - Arabia Saudita 7
BY - Bielorussia 6
CL - Cile 6
IE - Irlanda 5
RO - Romania 5
CH - Svizzera 4
JO - Giordania 4
KG - Kirghizistan 4
NP - Nepal 4
PA - Panama 4
TN - Tunisia 4
VE - Venezuela 4
AU - Australia 3
HU - Ungheria 3
MY - Malesia 3
NZ - Nuova Zelanda 3
PE - Perù 3
PY - Paraguay 3
SI - Slovenia 3
UY - Uruguay 3
AE - Emirati Arabi Uniti 2
AZ - Azerbaigian 2
BB - Barbados 2
BG - Bulgaria 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
EG - Egitto 2
GT - Guatemala 2
KE - Kenya 2
LB - Libano 2
LV - Lettonia 2
MK - Macedonia 2
NG - Nigeria 2
NI - Nicaragua 2
OM - Oman 2
PH - Filippine 2
PS - Palestinian Territory 2
QA - Qatar 2
RS - Serbia 2
TW - Taiwan 2
AL - Albania 1
BO - Bolivia 1
CI - Costa d'Avorio 1
DK - Danimarca 1
EE - Estonia 1
ET - Etiopia 1
GD - Grenada 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KH - Cambogia 1
KR - Corea 1
LI - Liechtenstein 1
NO - Norvegia 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TT - Trinidad e Tobago 1
Totale 15.140
Salva come PNG Salva come JPEG
Città #
Fairfield 1.107
Woodbridge 868
Chandler 661
Houston 595
Warsaw 595
Ashburn 559
Ann Arbor 549
Singapore 519
Jacksonville 440
Seattle 426
Santa Clara 397
Munich 357
Wilmington 357
Cambridge 351
Beijing 255
Izmir 142
New York 130
Princeton 118
Ferrara 110
Nanjing 110
Helsinki 96
San Diego 90
Shanghai 88
Milan 83
Boardman 82
Los Angeles 81
Bremen 77
Turku 71
Hong Kong 55
London 52
Jakarta 51
São Paulo 46
Brussels 45
Dearborn 45
Shenyang 44
Nanchang 39
Falls Church 34
Bologna 28
San Mateo 28
Tianjin 28
Brooklyn 26
Hebei 26
Frankfurt am Main 25
Changsha 24
Toronto 24
Redwood City 23
The Dalles 23
Brno 21
Jiaxing 20
Falkenstein 19
Chicago 18
Norwalk 18
Rio de Janeiro 18
Brasília 17
Ottawa 17
Washington 17
Belo Horizonte 16
Jinan 16
San Francisco 16
Kunming 15
Nuremberg 15
Columbus 14
Leawood 14
Auburn Hills 13
Moscow 13
Mountain View 12
Addison 11
Curitiba 11
Montreal 11
Philadelphia 11
Verona 11
Zhengzhou 11
Council Bluffs 10
Rome 10
Dallas 9
Dong Ket 9
Johannesburg 9
Monmouth Junction 9
Tappahannock 9
Tokyo 9
Vienna 9
Atlanta 8
Boston 8
Campinas 8
Des Moines 8
Duque de Caxias 8
Orange 8
Taizhou 8
Tashkent 8
Charlotte 7
Chennai 7
Kilburn 7
Lanzhou 7
Ningbo 7
Osasco 7
Phoenix 7
Stockholm 7
Augusta 6
Baghdad 6
Florence 6
Totale 10.576
Salva come PNG Salva come JPEG
Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 364
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 344
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 341
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 232
A novel mutation of BEST1 gene in Best disease 224
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 203
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 189
Paternal germline mosaicism in collagen VI related myopathies 187
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 183
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 181
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 180
Exon skipping-mediated dystrophin reading frame restoration for small mutations 174
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 172
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 169
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 164
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 163
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 160
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 157
Mole maker phenotype: possible narrowing of the candidate region. 157
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 156
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 155
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 155
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 154
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 152
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 151
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 151
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 151
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 151
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 150
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 150
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 149
A Family with γ-Thalassemia and High Hb A2 Levels 149
Autosomal recessive Bethlem myopathy 148
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 148
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 147
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 145
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 144
Prevalence of congenital muscular dystrophy in Italy: a population study 144
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 144
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 143
Attualità e nuove prospettive in tema di cardiogenetica 143
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 141
Transcriptional behavior of DMD gene duplications in DMD/BMD males 140
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 139
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 138
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 137
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 136
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 134
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 134
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 134
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 134
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 132
null 131
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 131
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 130
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 129
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 128
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 128
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 125
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 125
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 122
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 122
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 122
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 121
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 121
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 120
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 117
Progress in understanding GJB2-linked deafness 114
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 113
null 113
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 111
Early neurodevelopmental assessment in Duchenne muscular dystrophy 109
Report of a novel ATP7A mutation causing distal motor neuropathy 109
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 108
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 108
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 108
Predictors of cardiac arrhythmic events in non coronary artery disease patients 106
Physical and transcriptional characterization of human urinary stem cell populations 105
DMD gene molecular genetic characterization in Eastern Europe and non European countries 105
Duchenne muscular dystrophy and epilepsy 103
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 103
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 103
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 100
null 99
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 99
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 99
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 97
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 97
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 96
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 95
null 94
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 94
null 92
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 91
null 90
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 90
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 89
null 88
Localizzazione preliminare di tumor suppressor genes mediante chromosome transfer. 87
New CACNA1A deletions are associated to migraine phenotypes 86
Totale 13.896
Salva come PNG Salva come JPEG
Categoria #
all - tutte 78.585
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 470
Totale 79.055
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.652 130 132 75 202 105 165 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
2024/20253.822 71 66 259 183 435 317 254 195 703 381 522 436
2025/2026411 411 0 0 0 0 0 0 0 0 0 0 0
Totale 15.363