SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 20.228
EU - Europa 5.830
AS - Asia 3.460
SA - Sud America 365
AF - Africa 28
OC - Oceania 15
Continente sconosciuto - Info sul continente non disponibili 12
Totale 29.938
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Nazione #
US - Stati Uniti d'America 20.134
CN - Cina 1.568
IT - Italia 1.118
UA - Ucraina 1.075
DE - Germania 1.015
SG - Singapore 1.009
PL - Polonia 939
TR - Turchia 605
GB - Regno Unito 581
FI - Finlandia 343
BR - Brasile 327
SE - Svezia 326
ID - Indonesia 110
RU - Federazione Russa 89
BE - Belgio 77
CA - Canada 75
FR - Francia 56
VN - Vietnam 45
CZ - Repubblica Ceca 43
NL - Olanda 43
AT - Austria 29
LT - Lituania 23
IN - India 21
IR - Iran 16
LK - Sri Lanka 16
ES - Italia 15
AU - Australia 12
EU - Europa 12
EC - Ecuador 11
PK - Pakistan 11
CH - Svizzera 10
MA - Marocco 10
RO - Romania 10
CO - Colombia 9
MX - Messico 9
KR - Corea 8
AR - Argentina 6
DZ - Algeria 6
IQ - Iraq 6
BD - Bangladesh 5
CL - Cile 5
GR - Grecia 5
JP - Giappone 5
RS - Serbia 5
ZA - Sudafrica 5
HU - Ungheria 4
MY - Malesia 4
AE - Emirati Arabi Uniti 3
BY - Bielorussia 3
JO - Giordania 3
NZ - Nuova Zelanda 3
PA - Panama 3
SA - Arabia Saudita 3
SI - Slovenia 3
TW - Taiwan 3
VE - Venezuela 3
BG - Bulgaria 2
DK - Danimarca 2
GH - Ghana 2
HK - Hong Kong 2
IE - Irlanda 2
KE - Kenya 2
LV - Lettonia 2
NP - Nepal 2
PH - Filippine 2
PR - Porto Rico 2
PS - Palestinian Territory 2
PY - Paraguay 2
QA - Qatar 2
VA - Santa Sede (Città del Vaticano) 2
AO - Angola 1
AZ - Azerbaigian 1
BO - Bolivia 1
CR - Costa Rica 1
CY - Cipro 1
DO - Repubblica Dominicana 1
EE - Estonia 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
HR - Croazia 1
JM - Giamaica 1
KW - Kuwait 1
KZ - Kazakistan 1
LB - Libano 1
LI - Liechtenstein 1
MC - Monaco 1
MD - Moldavia 1
MK - Macedonia 1
MM - Myanmar 1
NO - Norvegia 1
PE - Perù 1
PT - Portogallo 1
SN - Senegal 1
SY - Repubblica araba siriana 1
TN - Tunisia 1
UZ - Uzbekistan 1
Totale 29.938
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Città #
Fairfield 2.906
Woodbridge 2.359
Houston 1.602
Chandler 1.434
Ashburn 1.313
Jacksonville 1.258
Ann Arbor 1.224
Seattle 1.087
Wilmington 968
Cambridge 951
Warsaw 938
Santa Clara 899
Singapore 739
Izmir 387
Nanjing 339
Beijing 336
Princeton 297
Boardman 216
San Diego 211
Ferrara 203
Munich 181
Milan 168
New York 162
Shanghai 162
Bremen 121
Helsinki 112
Jakarta 107
Shenyang 94
Dearborn 86
Los Angeles 85
Nanchang 79
Hebei 76
Falls Church 74
London 74
Tianjin 71
Brussels 69
Redwood City 67
Rome 60
Changsha 56
San Mateo 51
Falkenstein 49
Bologna 44
Jiaxing 43
Mountain View 42
Norwalk 38
Jinan 35
Dong Ket 34
Brno 33
Kunming 33
Orange 30
Toronto 30
Washington 29
Ottawa 24
Zhengzhou 24
Frankfurt am Main 23
Nuremberg 23
Addison 22
Auburn Hills 22
Guangzhou 21
Ningbo 21
Council Bluffs 20
Tappahannock 20
São Paulo 19
Des Moines 18
Taizhou 17
Lanzhou 16
Philadelphia 16
Kilburn 15
Verona 15
Indiana 13
Redmond 13
Florence 12
Padova 12
Pisa 11
Walnut 11
Augusta 10
Haikou 10
Hangzhou 10
Hefei 10
Monmouth Junction 10
Chicago 9
Lappeenranta 9
Leawood 9
Phoenix 9
Ardabil 8
Hounslow 8
Naples 8
Turin 8
Vienna 8
Brasília 7
Chiswick 7
Curitiba 7
Pieve Di Cadore 7
Rio de Janeiro 7
Trebaseleghe 7
Belo Horizonte 6
Clifton 6
Guarulhos 6
Montréal 6
Napoli 6
Totale 22.668
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 342
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 320
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 313
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 308
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 234
Duchenne muscular dystrophy: From diagnosis to therapy 204
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 201
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 189
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 187
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 184
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 181
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 167
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 162
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 162
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 160
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 158
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 158
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 156
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 156
Exon skipping-mediated dystrophin reading frame restoration for small mutations 153
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 153
Haplotype analysis of common transthyretin mutations 153
Paternal germline mosaicism in collagen VI related myopathies 152
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 142
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. 142
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 142
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 141
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 140
Gender-related risk of myocardial involvement in systemic amyloidosis 140
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 140
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 140
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 138
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 137
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 136
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 136
Characterization of a deleted Y chromosome in a male with Turner stigmata 135
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 134
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 134
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 133
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 133
Exon Skipping Quantification by Real-Time PCR 133
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 132
null 131
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 131
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 130
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 130
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 129
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 129
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 129
A current approach to heart failure in Duchenne muscular dystrophy 129
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 127
Prevalence of congenital muscular dystrophy in Italy: a population study 127
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 127
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 126
Autosomal recessive Bethlem myopathy 126
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 126
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 125
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 125
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 125
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 125
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 125
A Family with γ-Thalassemia and High Hb A2 Levels 124
Pura syndrome: an emerging neurodevelopmental disorder 124
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 124
D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers 123
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 123
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 123
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 123
Transcriptional behavior of DMD gene duplications in DMD/BMD males 122
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 122
X-linked dilated cardiomyopathy and the dystrophin gene. 121
null 121
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 121
Biomarkers and surrogate endpoints in Duchenne: meeting report 121
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 121
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 120
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 120
Biomarkers in rare neuromuscular diseases. 119
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. 119
Thyroid function in Rett syndrome 119
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 119
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. 118
Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model 118
D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia 118
Dystrophin and mutations: One gene, several proteins, multiple phenotypes 118
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 117
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 117
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 117
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 117
Attualità e nuove prospettive in tema di cardiogenetica 116
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 116
Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report. 115
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 115
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy 115
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? 115
Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient 114
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 114
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 114
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 114
null 113
Totale 14.213
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Categoria #
all - tutte 151.770
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.367
Totale 153.137
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20202.354 0 0 0 0 0 0 0 708 576 588 317 165
2020/20214.273 344 399 232 495 220 443 169 500 151 538 532 250
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
2024/20253.471 183 140 579 292 955 646 430 246 0 0 0 0
Totale 30.439