SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

GUALANDI, Francesca
 Distribuzione geografica
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Continente #
NA - Nord America 13.144
AS - Asia 6.388
EU - Europa 4.239
SA - Sud America 1.079
Continente sconosciuto - Info sul continente non disponibili 227
AF - Africa 163
OC - Oceania 14
AN - Antartide 1
Totale 25.255
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Nazione #
US - Stati Uniti d'America 12.809
SG - Singapore 2.502
CN - Cina 1.506
BR - Brasile 860
DE - Germania 845
VN - Vietnam 760
IT - Italia 670
PL - Polonia 644
HK - Hong Kong 481
UA - Ucraina 429
GB - Regno Unito 422
FI - Finlandia 291
TR - Turchia 285
SE - Svezia 219
BD - Bangladesh 193
CA - Canada 173
RU - Federazione Russa 167
FR - Francia 166
IN - India 154
JP - Giappone 140
MX - Messico 105
AR - Argentina 87
ID - Indonesia 81
NL - Olanda 71
ZA - Sudafrica 65
BE - Belgio 63
ES - Italia 58
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 21
LK - Sri Lanka 19
MY - Malesia 17
TN - Tunisia 17
IE - Irlanda 15
CL - Cile 13
JM - Giamaica 13
JO - Giordania 13
KE - Kenya 13
RO - Romania 13
AE - Emirati Arabi Uniti 12
DZ - Algeria 12
EG - Egitto 11
PY - Paraguay 11
AU - Australia 10
CH - Svizzera 10
CR - Costa Rica 9
IR - Iran 9
NP - Nepal 9
BY - Bielorussia 8
HU - Ungheria 8
OM - Oman 8
IL - Israele 7
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
QA - Qatar 5
BB - Barbados 4
BO - Bolivia 4
KG - Kirghizistan 4
LV - Lettonia 4
NI - Nicaragua 4
XK - ???statistics.table.value.countryCode.XK??? 4
AL - Albania 3
BG - Bulgaria 3
CY - Cipro 3
DK - Danimarca 3
GR - Grecia 3
GT - Guatemala 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
HN - Honduras 2
ME - Montenegro 2
PR - Porto Rico 2
Totale 24.999
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Città #
Ashburn 1.629
Singapore 1.545
Fairfield 1.107
San Jose 946
Woodbridge 868
Chandler 661
Warsaw 635
Houston 622
Beijing 620
Santa Clara 556
Ann Arbor 549
Hong Kong 474
Jacksonville 443
Seattle 434
Munich 363
Wilmington 360
Cambridge 351
Los Angeles 299
New York 277
Ho Chi Minh City 261
Council Bluffs 213
Dallas 204
Hanoi 165
Izmir 142
Tokyo 136
Helsinki 120
Princeton 119
Nanjing 111
Ferrara 109
Milan 106
Lauterbourg 100
San Diego 94
Shanghai 92
São Paulo 90
Buffalo 85
London 83
Boardman 82
Orem 82
Turku 82
Bremen 77
Mexico City 62
Toronto 61
Brooklyn 57
Jakarta 56
Chicago 54
Montreal 54
Johannesburg 50
Brussels 48
Dearborn 45
Chennai 44
Shenyang 44
Denver 43
Frankfurt am Main 43
Hefei 41
Phoenix 40
Atlanta 39
Da Nang 39
Nanchang 39
Bologna 36
Stockholm 36
Falls Church 35
Tianjin 35
Poplar 34
Falkenstein 33
Rome 31
San Francisco 30
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
Washington 23
Tashkent 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
Columbus 16
Hải Dương 16
Manchester 16
Curitiba 15
Verona 15
Leawood 14
Auburn Hills 13
Charlotte 13
Nairobi 13
Totale 17.090
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 481
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 431
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
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 322
A novel mutation of BEST1 gene in Best disease 318
A Family with γ-Thalassemia and High Hb A2 Levels 297
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 292
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 282
Paternal germline mosaicism in collagen VI related myopathies 279
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 278
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 276
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 276
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 275
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 274
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 272
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 267
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 265
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 263
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 259
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 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 256
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 252
Autosomal recessive Bethlem myopathy 250
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 250
Exon skipping-mediated dystrophin reading frame restoration for small mutations 248
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 245
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 243
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 243
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 242
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 240
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 239
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 235
Attualità e nuove prospettive in tema di cardiogenetica 232
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 231
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 230
Mole maker phenotype: possible narrowing of the candidate region. 230
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 229
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 228
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 228
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 227
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 219
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 219
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 217
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 217
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 216
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 216
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 213
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 213
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 212
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 211
Transcriptional behavior of DMD gene duplications in DMD/BMD males 211
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 210
An interconnected data infrastructure to support large-scale rare disease research 209
Characterization of a 4-Mb region at chromosome 6q21 harboring a replicative senescence gene 208
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 205
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 203
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 202
Prevalence of congenital muscular dystrophy in Italy: a population study 200
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 200
Huntington's disease-like presentation in Spinocerebellar ataxia type 12 197
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 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 196
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 195
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 195
Physical and transcriptional characterization of human urinary stem cell populations 193
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing 192
DMD gene molecular genetic characterization in Eastern Europe and non European countries 190
Functional characterization of two novel mutations in scn5a associated with brugada syndrome identified in Italian patients 190
Systemic Expression of HIV-1 tat Gene in Transgenic Mice Induces Endothelial Proliferation and Ibmors of Different Histotypes 187
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 185
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies 184
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 181
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
Un anno di attività diagnostica del laboratorio di Genetica molecolare di Ferrara 175
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 175
Report of a novel ATP7A mutation causing distal motor neuropathy 175
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
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 170
Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers 170
Left ventricular myocardial noncompaction with advanced atrioventricular conduction disorder and ventricular arrhythmias in a young patient: Role of MIB1 gene 170
Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies 169
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 168
Uso di modelli di trasformazione virale nello studio dei geni oncosoppressori tramite trasferimento monocromosomico. 167
Progress in understanding GJB2-linked deafness 167
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 166
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 165
Early neurodevelopmental assessment in Duchenne muscular dystrophy 162
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization 160
Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence. 160
Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders 160
Type 1 Brugada Pattern Is Associated With Echocardiography-Detected Delayed Right Ventricular Outflow Tract Contraction 152
Nanoparticle-Mediated Delivery of Antisense Oligoribonucleotides Allows Restoration of Dystrophin Expression in the mdx Mouse 151
Tumorigenicity and anchorage-independent growth suppression of BK virus transformed mouse cells by human chromosome 11 151
Localizzazione preliminare di tumor suppressor genes mediante chromosome transfer. 150
Intrapericardial rupture of aortic aneurysm in anatomic aortic arch variant: a multidisciplinary approach 150
G.P.3.02 In vivo biodistribution of non-viral systems for oligoribonucleotides delivery 148
Genetic analysis of a 6q21 region harboring a senescence gene: construction of a 4 megabase yeast artificial chromosome contig 148
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 148
Totale 22.165
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Categoria #
all - tutte 110.768
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 691
Totale 111.459
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.327 0 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
2026/2027835 508 327 0 0 0 0 0 0 0 0 0 0
Totale 25.255