SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 7.578
EU - Europa 2.296
AS - Asia 1.148
SA - Sud America 24
AF - Africa 4
OC - Oceania 2
Totale 11.052
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Nazione #
US - Stati Uniti d'America 7.562
CN - Cina 662
PL - Polonia 583
UA - Ucraina 390
DE - Germania 361
IT - Italia 341
GB - Regno Unito 244
TR - Turchia 232
SG - Singapore 168
SE - Svezia 150
FI - Finlandia 97
BE - Belgio 37
RU - Federazione Russa 27
ID - Indonesia 25
CZ - Repubblica Ceca 22
BR - Brasile 16
LK - Sri Lanka 16
FR - Francia 14
CA - Canada 13
IN - India 13
VN - Vietnam 11
NL - Olanda 10
IR - Iran 7
EC - Ecuador 5
DZ - Algeria 4
ES - Italia 4
RO - Romania 4
AT - Austria 3
SA - Arabia Saudita 3
SI - Slovenia 3
AE - Emirati Arabi Uniti 2
BD - Bangladesh 2
HK - Hong Kong 2
MY - Malesia 2
AU - Australia 1
BG - Bulgaria 1
CL - Cile 1
CO - Colombia 1
GR - Grecia 1
GT - Guatemala 1
HU - Ungheria 1
JO - Giordania 1
JP - Giappone 1
LI - Liechtenstein 1
MK - Macedonia 1
MX - Messico 1
NO - Norvegia 1
NZ - Nuova Zelanda 1
PA - Panama 1
PE - Perù 1
PH - Filippine 1
Totale 11.052
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Città #
Fairfield 1.107
Woodbridge 866
Chandler 661
Houston 594
Warsaw 583
Ann Arbor 549
Ashburn 522
Jacksonville 439
Seattle 422
Wilmington 357
Cambridge 350
Beijing 184
Izmir 142
Princeton 118
New York 111
Nanjing 109
Ferrara 103
Singapore 103
San Diego 89
Shanghai 85
Boardman 82
Bremen 77
Milan 76
Los Angeles 47
Dearborn 45
Shenyang 44
Nanchang 39
Falls Church 34
Brussels 30
San Mateo 28
Tianjin 28
Hebei 26
London 25
Changsha 24
Jakarta 23
Munich 23
Redwood City 23
Bologna 21
Brno 21
Jiaxing 20
Norwalk 18
Helsinki 16
Jinan 16
Washington 16
Kunming 15
Leawood 14
Auburn Hills 13
Mountain View 12
Addison 11
Philadelphia 10
Zhengzhou 10
Dong Ket 9
Monmouth Junction 9
Tappahannock 9
Verona 9
Des Moines 8
Orange 8
Taizhou 8
Kilburn 7
Lanzhou 7
Ningbo 7
Toronto 7
Augusta 6
Chiswick 5
Haikou 5
Indiana 5
Pisa 5
Quito 5
Redmond 5
Changchun 4
Hangzhou 4
Hefei 4
Hounslow 4
Lappeenranta 4
Napoli 4
Padova 4
Phoenix 4
Rome 4
Waanrode 4
Walnut 4
Ardabil 3
Argenta 3
Guangzhou 3
Hyderabad 3
Jersey City 3
Mcallen 3
Montreal 3
Reggio Nell'emilia 3
Riyadh 3
Trebaseleghe 3
Acton 2
Algiers 2
Andover 2
Bergisch Gladbach 2
Borgo Val di Taro 2
Brescia 2
Campi Bisenzio 2
Chicago 2
Clifton 2
Ferrara di Monte Baldo 2
Totale 8.599
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 324
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 303
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 296
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 192
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 149
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 148
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 148
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 146
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 141
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 140
Exon skipping-mediated dystrophin reading frame restoration for small mutations 138
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 137
Paternal germline mosaicism in collagen VI related myopathies 134
null 131
Mole maker phenotype: possible narrowing of the candidate region. 129
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 127
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 125
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 125
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 124
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 124
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 122
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 122
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 122
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 120
Prevalence of congenital muscular dystrophy in Italy: a population study 120
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 115
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 115
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 115
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 114
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 114
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 113
null 113
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 113
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 112
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 112
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 111
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 111
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 110
Autosomal recessive Bethlem myopathy 108
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 108
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 108
Transcriptional behavior of DMD gene duplications in DMD/BMD males 108
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 108
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 107
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 106
A Family with γ-Thalassemia and High Hb A2 Levels 106
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 106
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 105
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 104
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 104
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 104
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 103
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 102
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 102
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 102
Systemic expression of HIV-1 tat gene in transgenic mice induces endothelial proliferation and tumors of different histotypes. 100
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 100
Early neurodevelopmental assessment in Duchenne muscular dystrophy 100
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 100
null 99
Progress in understanding GJB2-linked deafness 99
Attualità e nuove prospettive in tema di cardiogenetica 99
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 99
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 98
Duchenne muscular dystrophy and epilepsy 95
null 94
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 93
null 92
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 91
null 90
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 90
null 88
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 86
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 85
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 84
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 83
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 83
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 82
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 79
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 79
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 78
Predictors of cardiac arrhythmic events in non coronary artery disease patients 77
DMD gene molecular genetic characterization in Eastern Europe and non European countries 76
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 74
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 73
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 73
Report of a novel ATP7A mutation causing distal motor neuropathy 73
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 69
New CACNA1A deletions are associated to migraine phenotypes 69
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 66
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 66
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 63
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 61
Tumor suppressor genes. New perspectives for clinical investigations in cancer. 59
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 58
Physical and transcriptional characterization of human urinary stem cell populations 58
Localizzazione preliminare di tumor suppressor genes mediante chromosome transfer. 51
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 49
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 46
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 46
Totale 10.719
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Categoria #
all - tutte 51.172
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 295
Totale 51.467
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.325 0 109 108 377 196 291 270 271 226 260 147 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
2024/2025136 71 65 0 0 0 0 0 0 0 0 0 0
Totale 11.266