SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 8.301
EU - Europa 2.834
AS - Asia 2.116
SA - Sud America 346
AF - Africa 25
OC - Oceania 5
Totale 13.627
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Nazione #
US - Stati Uniti d'America 8.246
SG - Singapore 986
CN - Cina 700
PL - Polonia 586
DE - Germania 584
UA - Ucraina 410
IT - Italia 402
BR - Brasile 310
GB - Regno Unito 277
TR - Turchia 241
FI - Finlandia 182
SE - Svezia 151
ID - Indonesia 53
BE - Belgio 52
RU - Federazione Russa 50
CA - Canada 40
HK - Hong Kong 31
CZ - Repubblica Ceca 26
NL - Olanda 26
VN - Vietnam 18
AT - Austria 17
IN - India 17
LK - Sri Lanka 17
FR - Francia 15
LT - Lituania 15
AR - Argentina 11
CO - Colombia 8
EC - Ecuador 8
IQ - Iraq 8
IR - Iran 8
DZ - Algeria 7
ES - Italia 7
BD - Bangladesh 6
MA - Marocco 6
PK - Pakistan 6
BY - Bielorussia 5
RO - Romania 5
ZA - Sudafrica 5
CL - Cile 4
PA - Panama 4
CH - Svizzera 3
HU - Ungheria 3
JO - Giordania 3
MX - Messico 3
NZ - Nuova Zelanda 3
SA - Arabia Saudita 3
SI - Slovenia 3
AE - Emirati Arabi Uniti 2
AU - Australia 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
GT - Guatemala 2
KE - Kenya 2
KG - Kirghizistan 2
LB - Libano 2
LV - Lettonia 2
MY - Malesia 2
NI - Nicaragua 2
PH - Filippine 2
PY - Paraguay 2
RS - Serbia 2
TN - Tunisia 2
TW - Taiwan 2
AL - Albania 1
AZ - Azerbaigian 1
BG - Bulgaria 1
DK - Danimarca 1
EE - Estonia 1
EG - Egitto 1
GR - Grecia 1
HR - Croazia 1
IE - Irlanda 1
JP - Giappone 1
KH - Cambogia 1
LI - Liechtenstein 1
MK - Macedonia 1
NG - Nigeria 1
NO - Norvegia 1
NP - Nepal 1
OM - Oman 1
PE - Perù 1
QA - Qatar 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
UY - Uruguay 1
UZ - Uzbekistan 1
VE - Venezuela 1
Totale 13.627
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Città #
Fairfield 1.107
Woodbridge 866
Chandler 661
Houston 594
Warsaw 585
Ann Arbor 549
Ashburn 527
Jacksonville 439
Singapore 436
Seattle 422
Santa Clara 387
Wilmington 357
Cambridge 350
Beijing 184
Munich 165
Izmir 142
Princeton 118
New York 112
Nanjing 110
Ferrara 103
Helsinki 96
San Diego 89
Shanghai 88
Milan 83
Boardman 82
Bremen 77
Los Angeles 57
Jakarta 51
London 46
Brussels 45
Dearborn 45
Shenyang 44
Nanchang 39
Falls Church 34
Hong Kong 31
San Mateo 28
Tianjin 28
Bologna 26
Hebei 26
Changsha 24
São Paulo 24
Redwood City 23
Brno 21
Jiaxing 20
Falkenstein 19
Norwalk 18
Toronto 18
Frankfurt am Main 16
Jinan 16
Ottawa 16
Washington 16
Kunming 15
Leawood 14
Auburn Hills 13
Mountain View 12
Addison 11
Nuremberg 11
Verona 11
Zhengzhou 11
Council Bluffs 10
Philadelphia 10
Brasília 9
Dong Ket 9
Monmouth Junction 9
Tappahannock 9
The Dalles 9
Des Moines 8
Orange 8
Rio de Janeiro 8
Rome 8
Taizhou 8
Belo Horizonte 7
Curitiba 7
Kilburn 7
Lanzhou 7
Ningbo 7
Augusta 6
Guangzhou 6
Vienna 6
Chiswick 5
Guarulhos 5
Haikou 5
Hefei 5
Indiana 5
Lappeenranta 5
Minsk 5
Pisa 5
Quito 5
Redmond 5
Campinas 4
Carpi 4
Changchun 4
Florence 4
Hangzhou 4
Hounslow 4
Jequié 4
Napoli 4
Osasco 4
Padova 4
Panama City 4
Totale 9.810
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 348
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 329
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 324
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 214
A novel mutation of BEST1 gene in Best disease 203
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 191
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 174
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 168
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 167
Paternal germline mosaicism in collagen VI related myopathies 166
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 164
Exon skipping-mediated dystrophin reading frame restoration for small mutations 161
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 159
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 158
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 156
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 150
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 150
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 146
Mole maker phenotype: possible narrowing of the candidate region. 146
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 143
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 143
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 142
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 142
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 140
Prevalence of congenital muscular dystrophy in Italy: a population study 139
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 139
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 139
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 135
A Family with γ-Thalassemia and High Hb A2 Levels 135
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 135
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 134
Autosomal recessive Bethlem myopathy 134
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 134
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 133
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 133
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 132
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 132
null 131
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 131
Transcriptional behavior of DMD gene duplications in DMD/BMD males 131
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 131
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 131
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 131
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 129
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 128
Attualità e nuove prospettive in tema di cardiogenetica 127
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 126
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 126
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 122
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 122
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 121
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 120
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 120
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 118
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 118
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 117
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 117
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 117
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 115
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 115
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 115
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 113
null 113
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 110
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 110
Exploring the clinical and epidemiological complexity of GJB2-linked deafness. 109
Progress in understanding GJB2-linked deafness 108
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 106
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 106
Early neurodevelopmental assessment in Duchenne muscular dystrophy 105
Duchenne muscular dystrophy and epilepsy 101
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 101
null 99
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 99
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 99
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 98
Report of a novel ATP7A mutation causing distal motor neuropathy 96
null 94
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 93
Predictors of cardiac arrhythmic events in non coronary artery disease patients 93
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 93
null 92
DMD gene molecular genetic characterization in Eastern Europe and non European countries 92
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 91
null 90
Physical and transcriptional characterization of human urinary stem cell populations 90
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 89
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 89
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 89
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 88
null 88
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 88
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 84
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 82
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 80
New CACNA1A deletions are associated to migraine phenotypes 80
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 79
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 75
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 74
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 73
Totale 12.756
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Categoria #
all - tutte 71.840
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 411
Totale 72.251
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020477 0 0 0 0 0 0 0 0 0 260 147 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
2024/20252.719 71 66 259 183 435 317 254 195 703 236 0 0
Totale 13.849