SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 24.673
AS - Asia 10.271
EU - Europa 7.877
SA - Sud America 2.013
AF - Africa 178
OC - Oceania 73
Continente sconosciuto - Info sul continente non disponibili 12
AN - Antartide 1
Totale 45.098
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Nazione #
US - Stati Uniti d'America 24.174
SG - Singapore 4.483
CN - Cina 2.781
BR - Brasile 1.689
DE - Germania 1.540
IT - Italia 1.438
UA - Ucraina 1.142
PL - Polonia 1.035
HK - Hong Kong 1.033
GB - Regno Unito 796
TR - Turchia 643
VN - Vietnam 563
FI - Finlandia 494
SE - Svezia 384
RU - Federazione Russa 374
MX - Messico 224
CA - Canada 219
ID - Indonesia 166
IN - India 151
AR - Argentina 147
FR - Francia 122
NL - Olanda 116
JP - Giappone 99
BE - Belgio 89
ZA - Sudafrica 87
ES - Italia 77
BD - Bangladesh 62
AT - Austria 61
AU - Australia 56
CZ - Repubblica Ceca 53
EC - Ecuador 53
IQ - Iraq 47
LT - Lituania 45
CO - Colombia 35
PK - Pakistan 35
MA - Marocco 34
VE - Venezuela 23
IR - Iran 20
PY - Paraguay 19
UZ - Uzbekistan 19
LK - Sri Lanka 18
SA - Arabia Saudita 18
CH - Svizzera 16
CL - Cile 16
EG - Egitto 15
KR - Corea 15
NZ - Nuova Zelanda 14
PE - Perù 14
DZ - Algeria 13
IE - Irlanda 13
AE - Emirati Arabi Uniti 12
EU - Europa 12
RO - Romania 12
UY - Uruguay 12
JO - Giordania 11
MY - Malesia 10
AZ - Azerbaigian 9
NP - Nepal 9
IL - Israele 8
PH - Filippine 8
BB - Barbados 7
CR - Costa Rica 7
HN - Honduras 7
TW - Taiwan 7
BG - Bulgaria 6
BY - Bielorussia 6
JM - Giamaica 6
KE - Kenya 6
LB - Libano 6
MK - Macedonia 6
PA - Panama 6
PS - Palestinian Territory 6
RS - Serbia 6
TN - Tunisia 6
BO - Bolivia 5
EE - Estonia 5
GR - Grecia 5
HU - Ungheria 5
AL - Albania 4
CY - Cipro 4
DK - Danimarca 4
DO - Repubblica Dominicana 4
QA - Qatar 4
SV - El Salvador 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
GA - Gabon 3
GT - Guatemala 3
KZ - Kazakistan 3
NO - Norvegia 3
OM - Oman 3
PT - Portogallo 3
SI - Slovenia 3
SN - Senegal 3
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
ET - Etiopia 2
GD - Grenada 2
GH - Ghana 2
HR - Croazia 2
Totale 45.059
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Città #
Fairfield 2.906
Ashburn 2.456
Woodbridge 2.361
Singapore 2.337
Houston 1.628
Chandler 1.434
Jacksonville 1.262
Ann Arbor 1.224
Seattle 1.103
Warsaw 1.022
Hong Kong 1.020
Beijing 1.014
Wilmington 970
Santa Clara 963
Cambridge 952
Munich 528
Los Angeles 400
Izmir 387
Dallas 364
Nanjing 341
New York 338
Princeton 297
Ferrara 228
Boardman 216
San Diego 212
Milan 207
Ho Chi Minh City 194
Shanghai 164
Mexico City 160
São Paulo 157
Turku 133
Jakarta 122
Bremen 121
Buffalo 119
Helsinki 119
London 112
Chicago 101
Hanoi 99
Shenyang 95
Tianjin 92
Falkenstein 87
Dearborn 86
Hefei 86
Nanchang 79
Tokyo 79
Rome 77
Brussels 76
Hebei 76
Falls Church 75
Brooklyn 71
Montreal 69
Redwood City 67
Changsha 61
Denver 61
Johannesburg 60
Stockholm 58
The Dalles 58
Bologna 55
Chennai 53
Moscow 53
Phoenix 53
Atlanta 52
Nuremberg 52
Rio de Janeiro 51
San Mateo 51
Toronto 51
Brescia 50
Orem 50
Poplar 50
San Francisco 48
Jiaxing 44
Boston 42
Brasília 42
Frankfurt am Main 42
Mountain View 42
Belo Horizonte 40
Jinan 38
Norwalk 38
Columbus 37
Dong Ket 34
Brno 33
Kunming 33
Manchester 31
Washington 31
Orange 30
Curitiba 29
Sydney 29
Da Nang 27
Guangzhou 27
Ottawa 26
Amsterdam 25
Zhengzhou 25
Council Bluffs 24
Baghdad 23
Addison 22
Auburn Hills 22
Ningbo 22
Ankara 21
Charlotte 21
Mumbai 21
Totale 30.774
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Nome #
Duchenne muscular dystrophy: From diagnosis to therapy 496
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
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 369
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 283
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 279
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
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 246
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 245
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 242
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 238
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 237
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 230
A Family with γ-Thalassemia and High Hb A2 Levels 230
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 222
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 220
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 219
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
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 208
Characterization of a deleted Y chromosome in a male with Turner stigmata 207
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
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 201
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 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
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 199
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
Autosomal recessive Bethlem myopathy 198
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 194
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 194
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 191
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point 190
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders 190
Novel mutations in the SLC26A4 gene 190
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping 190
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 189
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 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
Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin 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
Biomarkers in rare neuromuscular diseases 182
Haplotype analysis of common transthyretin mutations 182
A current approach to heart failure in Duchenne muscular dystrophy 180
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
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 179
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 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
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 179
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 178
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 178
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 177
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 176
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 176
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice 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 175
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 174
Transcriptional behavior of DMD gene duplications in DMD/BMD males 174
X-linked dilated cardiomyopathy and the dystrophin gene. 172
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 172
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 172
Biodistribution Studies of Polymeric Nanoparticles for Drug Delivery in Mice. 172
Gender-related risk of myocardial involvement in systemic amyloidosis 171
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 171
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 171
Exon Skipping Quantification by Real-Time PCR 169
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
Dystrophin and mutations: One gene, several proteins, multiple phenotypes 166
Thyroid function in Rett syndrome 166
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 164
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 163
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 162
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 162
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 162
Pura syndrome: an emerging neurodevelopmental disorder 162
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
Totale 20.261
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Categoria #
all - tutte 214.232
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.894
Totale 216.126
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20212.583 0 0 0 0 0 443 169 500 151 538 532 250
2021/20223.180 159 267 270 113 165 147 202 174 138 242 324 979
2022/20233.263 332 265 72 416 587 442 113 303 403 37 175 118
2023/20241.735 167 223 114 44 122 276 58 96 62 52 54 467
2024/20257.772 183 140 579 292 955 646 430 471 1.369 892 989 826
2025/202610.887 1.942 857 1.875 2.871 3.031 311 0 0 0 0 0 0
Totale 45.627