SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 12.895
AS - Asia 6.300
EU - Europa 4.190
SA - Sud America 1.076
Continente sconosciuto - Info sul continente non disponibili 226
AF - Africa 163
OC - Oceania 14
AN - Antartide 1
Totale 24.865
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Nazione #
US - Stati Uniti d'America 12.583
SG - Singapore 2.478
CN - Cina 1.480
BR - Brasile 858
DE - Germania 845
VN - Vietnam 760
IT - Italia 656
PL - Polonia 644
HK - Hong Kong 453
UA - Ucraina 429
GB - Regno Unito 421
FI - Finlandia 291
TR - Turchia 285
BD - Bangladesh 188
SE - Svezia 188
RU - Federazione Russa 167
FR - Francia 165
CA - Canada 159
IN - India 154
JP - Giappone 139
MX - Messico 104
AR - Argentina 87
ID - Indonesia 81
NL - Olanda 71
ZA - Sudafrica 65
BE - Belgio 63
ES - Italia 56
IQ - Iraq 49
CO - Colombia 36
PK - Pakistan 34
CZ - Repubblica Ceca 32
LT - Lituania 32
VE - Venezuela 29
AT - Austria 28
EC - Ecuador 27
MA - Marocco 24
UZ - Uzbekistan 23
SA - Arabia Saudita 22
PH - Filippine 20
LK - Sri Lanka 19
TN - Tunisia 17
IE - Irlanda 15
MY - Malesia 15
JM - Giamaica 13
JO - Giordania 13
KE - Kenya 13
RO - Romania 13
AE - Emirati Arabi Uniti 12
CL - Cile 12
DZ - Algeria 12
EG - Egitto 11
PY - Paraguay 11
AU - Australia 10
CH - Svizzera 10
IR - Iran 9
NP - Nepal 9
BY - Bielorussia 8
HU - Ungheria 8
OM - Oman 8
IL - Israele 7
CR - Costa Rica 6
PA - Panama 6
RS - Serbia 6
UY - Uruguay 6
AZ - Azerbaigian 5
DO - Repubblica Dominicana 5
HR - Croazia 5
MK - Macedonia 5
PE - Perù 5
PS - Palestinian Territory 5
BO - Bolivia 4
KG - Kirghizistan 4
LV - Lettonia 4
NI - Nicaragua 4
QA - Qatar 4
XK - ???statistics.table.value.countryCode.XK??? 4
AL - Albania 3
BB - Barbados 3
BG - Bulgaria 3
CY - Cipro 3
DK - Danimarca 3
GR - Grecia 3
KH - Cambogia 3
KR - Corea 3
KZ - Kazakistan 3
LB - Libano 3
MD - Moldavia 3
NG - Nigeria 3
NZ - Nuova Zelanda 3
SI - Slovenia 3
SN - Senegal 3
SV - El Salvador 3
AO - Angola 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
ET - Etiopia 2
GT - Guatemala 2
HN - Honduras 2
ME - Montenegro 2
SY - Repubblica araba siriana 2
Totale 24.613
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Città #
Ashburn 1.614
Singapore 1.529
Fairfield 1.107
San Jose 920
Woodbridge 868
Chandler 661
Warsaw 635
Houston 621
Beijing 594
Ann Arbor 549
Santa Clara 527
Hong Kong 446
Jacksonville 443
Seattle 434
Munich 363
Wilmington 359
Cambridge 351
Los Angeles 298
New York 277
Ho Chi Minh City 261
Dallas 204
Hanoi 165
Izmir 142
Council Bluffs 136
Tokyo 136
Helsinki 120
Princeton 119
Nanjing 111
Ferrara 107
Milan 102
Lauterbourg 100
San Diego 92
Shanghai 92
São Paulo 90
Buffalo 85
London 83
Boardman 82
Orem 82
Turku 82
Bremen 77
Mexico City 61
Brooklyn 57
Jakarta 56
Chicago 54
Montreal 54
Toronto 52
Johannesburg 50
Brussels 48
Dearborn 45
Chennai 44
Shenyang 44
Denver 43
Frankfurt am Main 43
Hefei 41
Da Nang 39
Nanchang 39
Atlanta 38
Bologna 36
Stockholm 36
Falls Church 35
Phoenix 35
Tianjin 35
Poplar 34
Falkenstein 33
Rome 29
San Francisco 29
The Dalles 29
Changsha 28
San Mateo 28
Hebei 26
Boston 25
Rio de Janeiro 24
Amsterdam 23
Haiphong 23
Nuremberg 23
Redwood City 23
Tashkent 22
Washington 22
Brasília 21
Jiaxing 21
Brno 20
Ankara 19
Belo Horizonte 19
Jinan 19
Baghdad 18
Mumbai 18
Norwalk 18
Kunming 17
Moscow 17
Ottawa 17
Philadelphia 17
Hải Dương 16
Manchester 16
Curitiba 15
Verona 15
Columbus 14
Leawood 14
Auburn Hills 13
Nairobi 13
Charlotte 12
Totale 16.839
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 478
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 429
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 412
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 334
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 321
A novel mutation of BEST1 gene in Best disease 315
A Family with γ-Thalassemia and High Hb A2 Levels 294
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 288
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 281
Paternal germline mosaicism in collagen VI related myopathies 278
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 277
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 273
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 273
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 273
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 273
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 268
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 265
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 258
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 257
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 254
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 254
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 253
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 248
Autosomal recessive Bethlem myopathy 247
Exon skipping-mediated dystrophin reading frame restoration for small mutations 245
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 245
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 242
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 239
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 238
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 238
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 237
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 235
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 233
Mole maker phenotype: possible narrowing of the candidate region. 230
Attualità e nuove prospettive in tema di cardiogenetica 230
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 228
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 228
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 228
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 227
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 227
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 226
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 218
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 217
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 215
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 214
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 214
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 213
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 211
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 211
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 210
Transcriptional behavior of DMD gene duplications in DMD/BMD males 210
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 210
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 209
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 204
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 204
An interconnected data infrastructure to support large-scale rare disease research 203
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 202
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 201
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 197
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 196
Prevalence of congenital muscular dystrophy in Italy: a population study 196
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 195
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 194
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 193
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 192
Physical and transcriptional characterization of human urinary stem cell populations 189
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 189
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 189
DMD gene molecular genetic characterization in Eastern Europe and non European countries 187
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 186
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 181
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 180
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 177
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 177
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 173
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy 173
Predictors of cardiac arrhythmic events in non coronary artery disease patients 173
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 172
Report of a novel ATP7A mutation causing distal motor neuropathy 172
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 169
Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene 169
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 168
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 168
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 167
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 165
Progress in understanding GJB2-linked deafness 165
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 164
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 163
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 160
Early neurodevelopmental assessment in Duchenne muscular dystrophy 160
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 159
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 158
Localizzazione preliminare di tumor suppressor genes mediante chromosome transfer. 150
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 149
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 149
Duchenne muscular dystrophy and epilepsy 147
G.P.3.02 In vivo biodistribution of non-viral systems for oligoribonucleotides delivery 146
Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse 146
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 145
Type 1 Brugada Pattern Is Associated With Echocardiography-Detected Delayed Right Ventricular Outflow Tract Contraction 145
Totale 21.838
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Categoria #
all - tutte 108.481
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 671
Totale 109.152
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2023/2024860 71 98 65 12 67 196 25 57 10 20 19 220
2024/20253.774 69 65 258 181 430 314 253 194 696 379 514 421
2025/20269.522 1.008 357 766 1.175 1.476 631 1.237 521 766 931 438 216
2026/2027445 445 0 0 0 0 0 0 0 0 0 0 0
Totale 24.865