SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 10.494
AS - Asia 4.514
EU - Europa 3.673
SA - Sud America 878
AF - Africa 93
OC - Oceania 8
AN - Antartide 1
Continente sconosciuto - Info sul continente non disponibili 1
Totale 19.662
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 10.275
SG - Singapore 1.984
CN - Cina 1.299
DE - Germania 829
BR - Brasile 751
PL - Polonia 633
IT - Italia 491
UA - Ucraina 417
HK - Hong Kong 378
GB - Regno Unito 374
FI - Finlandia 271
TR - Turchia 259
VN - Vietnam 242
SE - Svezia 178
RU - Federazione Russa 156
CA - Canada 119
IN - India 81
MX - Messico 79
ID - Indonesia 71
AR - Argentina 59
BE - Belgio 55
NL - Olanda 51
ZA - Sudafrica 46
JP - Giappone 45
ES - Italia 41
FR - Francia 35
CZ - Repubblica Ceca 32
BD - Bangladesh 28
AT - Austria 27
LT - Lituania 26
IQ - Iraq 19
LK - Sri Lanka 18
CO - Colombia 17
EC - Ecuador 16
MA - Marocco 15
VE - Venezuela 12
UZ - Uzbekistan 11
IE - Irlanda 9
IR - Iran 9
CL - Cile 8
DZ - Algeria 8
JO - Giordania 8
PK - Pakistan 8
SA - Arabia Saudita 8
AE - Emirati Arabi Uniti 7
EG - Egitto 7
RO - Romania 7
BY - Bielorussia 6
CH - Svizzera 6
PY - Paraguay 6
NP - Nepal 5
PA - Panama 5
TN - Tunisia 5
AU - Australia 4
AZ - Azerbaigian 4
HU - Ungheria 4
IL - Israele 4
KE - Kenya 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
NZ - Nuova Zelanda 3
OM - Oman 3
PH - Filippine 3
SI - Slovenia 3
BA - Bosnia-Erzegovina 2
BB - Barbados 2
DO - Repubblica Dominicana 2
GT - Guatemala 2
LV - Lettonia 2
NG - Nigeria 2
NI - Nicaragua 2
PS - Palestinian Territory 2
QA - Qatar 2
RS - Serbia 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
GD - Grenada 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KH - Cambogia 1
KR - Corea 1
LI - Liechtenstein 1
ME - Montenegro 1
MR - Mauritania 1
Totale 19.653
Salva come PNG Salva come JPEG
Città #
Ashburn 1.159
Fairfield 1.107
Singapore 1.075
Woodbridge 868
Chandler 661
Warsaw 624
Houston 613
Ann Arbor 549
Beijing 543
Jacksonville 440
Seattle 431
Santa Clara 418
Hong Kong 378
Munich 369
Wilmington 359
Cambridge 351
Los Angeles 248
New York 208
Dallas 182
Izmir 142
Princeton 118
Nanjing 111
Ferrara 108
Helsinki 96
Ho Chi Minh City 92
Milan 90
San Diego 90
Shanghai 89
Turku 85
Boardman 82
Bremen 77
São Paulo 73
Buffalo 70
London 68
Jakarta 56
Brooklyn 50
Mexico City 50
Chicago 49
Brussels 45
Dearborn 45
Shenyang 44
Tokyo 44
Hanoi 43
Hefei 40
Montreal 40
Nanchang 39
Johannesburg 37
Denver 36
Falls Church 35
Chennai 34
Tianjin 34
Falkenstein 33
Toronto 31
Atlanta 30
Changsha 28
Frankfurt am Main 28
Orem 28
Poplar 28
San Mateo 28
The Dalles 28
Stockholm 27
Bologna 26
Hebei 26
Phoenix 26
San Francisco 25
Redwood City 23
Rio de Janeiro 23
Brno 21
Jiaxing 21
Nuremberg 21
Brasília 20
Boston 18
Jinan 18
Norwalk 18
Belo Horizonte 17
Ottawa 17
Washington 17
Council Bluffs 16
Kunming 16
Moscow 16
Amsterdam 14
Columbus 14
Leawood 14
Ankara 13
Auburn Hills 13
Curitiba 13
Mountain View 12
Rome 12
Addison 11
Da Nang 11
Manchester 11
Philadelphia 11
Verona 11
Vienna 11
Zhengzhou 11
Tashkent 10
Augusta 9
Buenos Aires 9
Campinas 9
Charlotte 9
Totale 13.597
Salva come PNG Salva come JPEG
Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 419
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 383
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 378
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 260
A novel mutation of BEST1 gene in Best disease 260
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 242
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 236
Paternal germline mosaicism in collagen VI related myopathies 229
A Family with γ-Thalassemia and High Hb A2 Levels 229
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 226
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 224
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 221
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 220
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 209
Exon skipping-mediated dystrophin reading frame restoration for small mutations 209
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 205
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 204
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 202
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 201
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 200
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 200
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 200
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 199
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 199
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 199
Autosomal recessive Bethlem myopathy 198
Mole maker phenotype: possible narrowing of the candidate region. 197
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 196
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 193
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 191
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 190
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 188
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 188
Attualità e nuove prospettive in tema di cardiogenetica 187
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 185
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 185
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 184
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 184
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 183
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 183
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 179
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 179
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 179
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 179
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 176
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 176
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 174
Transcriptional behavior of DMD gene duplications in DMD/BMD males 174
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 171
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 169
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 167
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 167
Prevalence of congenital muscular dystrophy in Italy: a population study 167
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 167
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 166
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 163
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 162
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 162
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 161
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 161
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 161
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 161
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 158
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 156
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 153
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 153
Physical and transcriptional characterization of human urinary stem cell populations 150
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy 149
An interconnected data infrastructure to support large-scale rare disease research 145
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 144
DMD gene molecular genetic characterization in Eastern Europe and non European countries 144
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 143
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 142
Progress in understanding GJB2-linked deafness 141
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 140
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 138
Predictors of cardiac arrhythmic events in non coronary artery disease patients 136
Report of a novel ATP7A mutation causing distal motor neuropathy 136
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 134
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 133
Early neurodevelopmental assessment in Duchenne muscular dystrophy 132
null 131
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 131
Duchenne muscular dystrophy and epilepsy 130
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 130
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 128
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 128
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 126
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 124
Localizzazione preliminare di tumor suppressor genes mediante chromosome transfer. 122
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 122
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 121
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 118
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 118
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 116
null 113
Brugada ECG pattern in hypertrophic cardiomyopathy: Brugada phenocopy or overlapping syndrome? 110
Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse 109
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 108
New CACNA1A deletions are associated to migraine phenotypes 108
Totale 17.527
Salva come PNG Salva come JPEG
Categoria #
all - tutte 93.699
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 570
Totale 94.269
Salva come PNG Salva come JPEG


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
2025/20264.942 1.018 359 772 1.181 1.490 122 0 0 0 0 0 0
Totale 19.884