SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 8.162
EU - Europa 2.680
AS - Asia 1.543
SA - Sud America 226
AF - Africa 18
OC - Oceania 3
Totale 12.632
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Nazione #
US - Stati Uniti d'America 8.113
CN - Cina 700
PL - Polonia 584
DE - Germania 520
SG - Singapore 472
UA - Ucraina 391
IT - Italia 379
GB - Regno Unito 276
TR - Turchia 234
BR - Brasile 205
FI - Finlandia 167
SE - Svezia 150
ID - Indonesia 53
BE - Belgio 52
RU - Federazione Russa 47
CA - Canada 40
CZ - Repubblica Ceca 24
NL - Olanda 18
VN - Vietnam 18
LK - Sri Lanka 16
LT - Lituania 15
FR - Francia 14
IN - India 14
AT - Austria 10
EC - Ecuador 7
IR - Iran 7
DZ - Algeria 6
ES - Italia 6
MA - Marocco 5
RO - Romania 5
AR - Argentina 4
CO - Colombia 4
IQ - Iraq 4
BD - Bangladesh 3
BY - Bielorussia 3
CH - Svizzera 3
CL - Cile 3
HU - Ungheria 3
PA - Panama 3
PK - Pakistan 3
SA - Arabia Saudita 3
SI - Slovenia 3
ZA - Sudafrica 3
AE - Emirati Arabi Uniti 2
HK - Hong Kong 2
JO - Giordania 2
LV - Lettonia 2
MX - Messico 2
MY - Malesia 2
NZ - Nuova Zelanda 2
RS - Serbia 2
TW - Taiwan 2
AU - Australia 1
BG - Bulgaria 1
CR - Costa Rica 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GR - Grecia 1
GT - Guatemala 1
JP - Giappone 1
KE - Kenya 1
KG - Kirghizistan 1
LB - Libano 1
LI - Liechtenstein 1
MK - Macedonia 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
PE - Perù 1
PH - Filippine 1
PY - Paraguay 1
QA - Qatar 1
SN - Senegal 1
TN - Tunisia 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 12.632
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Città #
Fairfield 1.107
Woodbridge 866
Chandler 661
Houston 594
Warsaw 584
Ann Arbor 549
Ashburn 526
Jacksonville 439
Seattle 422
Santa Clara 386
Singapore 382
Wilmington 357
Cambridge 350
Beijing 184
Izmir 142
Munich 139
Princeton 118
New York 112
Nanjing 110
Ferrara 103
San Diego 89
Shanghai 88
Helsinki 83
Boardman 82
Milan 79
Bremen 77
Jakarta 51
Los Angeles 49
London 46
Brussels 45
Dearborn 45
Shenyang 44
Nanchang 39
Falls Church 34
San Mateo 28
Tianjin 28
Hebei 26
Bologna 25
Changsha 24
Redwood City 23
Brno 21
Jiaxing 20
Falkenstein 19
Norwalk 18
Toronto 18
São Paulo 17
Frankfurt am Main 16
Jinan 16
Ottawa 16
Washington 16
Kunming 15
Leawood 14
Auburn Hills 13
Mountain View 12
Addison 11
Verona 11
Zhengzhou 11
Council Bluffs 10
Philadelphia 10
Dong Ket 9
Monmouth Junction 9
Tappahannock 9
Des Moines 8
Orange 8
Rome 8
Taizhou 8
Curitiba 7
Kilburn 7
Lanzhou 7
Ningbo 7
Nuremberg 7
Augusta 6
Guangzhou 6
Brasília 5
Chiswick 5
Haikou 5
Hefei 5
Indiana 5
Lappeenranta 5
Pisa 5
Quito 5
Redmond 5
Changchun 4
Florence 4
Hangzhou 4
Hounslow 4
Napoli 4
Padova 4
Phoenix 4
Waanrode 4
Walnut 4
Algiers 3
Ardabil 3
Argenta 3
Guarulhos 3
Hyderabad 3
Jersey City 3
Johannesburg 3
Mcallen 3
Minsk 3
Totale 9.634
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 342
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 320
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 313
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 201
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 184
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 162
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 160
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 158
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 158
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 156
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 156
Exon skipping-mediated dystrophin reading frame restoration for small mutations 153
Paternal germline mosaicism in collagen VI related myopathies 152
A novel mutation of BEST1 gene in Best disease 145
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 142
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 142
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 140
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 137
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 136
Mole maker phenotype: possible narrowing of the candidate region. 136
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 134
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 134
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 133
null 131
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 131
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 130
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 130
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 129
Prevalence of congenital muscular dystrophy in Italy: a population study 127
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 127
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 126
Autosomal recessive Bethlem myopathy 126
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 126
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 125
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 125
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 125
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 125
A Family with γ-Thalassemia and High Hb A2 Levels 124
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 124
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 123
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 123
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 123
Transcriptional behavior of DMD gene duplications in DMD/BMD males 122
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 121
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 120
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 117
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 117
Attualità e nuove prospettive in tema di cardiogenetica 116
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 116
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 115
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 114
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 114
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 114
null 113
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 111
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 111
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 110
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 110
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 110
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 110
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 108
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 107
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 106
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 105
Progress in understanding GJB2-linked deafness 104
Early neurodevelopmental assessment in Duchenne muscular dystrophy 103
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 102
null 99
Duchenne muscular dystrophy and epilepsy 99
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 98
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 98
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 95
null 94
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 94
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 94
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 93
null 92
null 90
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 89
null 88
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 87
Predictors of cardiac arrhythmic events in non coronary artery disease patients 87
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 85
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 85
Report of a novel ATP7A mutation causing distal motor neuropathy 85
DMD gene molecular genetic characterization in Eastern Europe and non European countries 85
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 82
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 82
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 80
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 79
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 77
New CACNA1A deletions are associated to migraine phenotypes 77
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 76
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 75
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 74
Physical and transcriptional characterization of human urinary stem cell populations 74
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 67
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 67
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 66
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 66
Totale 11.969
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Categoria #
all - tutte 66.327
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 372
Totale 66.699
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020974 0 0 0 0 0 0 0 271 226 260 147 70
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
2024/20251.716 71 66 259 183 435 317 254 131 0 0 0 0
Totale 12.846