SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 18.813
EU - Europa 4.925
AS - Asia 2.123
SA - Sud America 37
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 10
AF - Africa 4
Totale 25.924
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Nazione #
US - Stati Uniti d'America 18.780
CN - Cina 1.411
UA - Ucraina 1.073
PL - Polonia 938
IT - Italia 843
DE - Germania 744
TR - Turchia 598
GB - Regno Unito 524
SE - Svezia 326
FI - Finlandia 254
FR - Francia 55
BE - Belgio 44
RU - Federazione Russa 43
VN - Vietnam 37
CA - Canada 25
BR - Brasile 23
NL - Olanda 19
IN - India 16
IR - Iran 16
LK - Sri Lanka 16
ES - Italia 13
EU - Europa 12
AT - Austria 9
AU - Australia 9
RO - Romania 8
CH - Svizzera 6
EC - Ecuador 6
CO - Colombia 5
KR - Corea 5
CZ - Repubblica Ceca 4
JP - Giappone 4
MX - Messico 4
MY - Malesia 4
GR - Grecia 3
SI - Slovenia 3
AE - Emirati Arabi Uniti 2
BD - Bangladesh 2
BG - Bulgaria 2
CL - Cile 2
DK - Danimarca 2
DZ - Algeria 2
HU - Ungheria 2
ID - Indonesia 2
PH - Filippine 2
PR - Porto Rico 2
VA - Santa Sede (Città del Vaticano) 2
CY - Cipro 1
GT - Guatemala 1
HK - Hong Kong 1
HR - Croazia 1
IE - Irlanda 1
JO - Giordania 1
KZ - Kazakistan 1
LI - Liechtenstein 1
MA - Marocco 1
MC - Monaco 1
MD - Moldavia 1
MK - Macedonia 1
MM - Myanmar 1
NZ - Nuova Zelanda 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
RS - Serbia 1
SA - Arabia Saudita 1
SG - Singapore 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 25.924
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Città #
Fairfield 2.906
Woodbridge 2.359
Houston 1.602
Chandler 1.434
Ashburn 1.295
Jacksonville 1.258
Ann Arbor 1.224
Seattle 1.087
Wilmington 968
Cambridge 951
Warsaw 937
Izmir 387
Nanjing 338
Beijing 332
Princeton 297
San Diego 211
Ferrara 200
Boardman 199
New York 160
Milan 123
Bremen 121
Shanghai 110
Shenyang 94
Dearborn 86
Nanchang 79
Hebei 76
Falls Church 74
Tianjin 71
Redwood City 67
Changsha 56
San Mateo 51
London 45
Jiaxing 43
Mountain View 42
Brussels 38
Norwalk 38
Dong Ket 34
Jinan 34
Kunming 33
Helsinki 30
Orange 30
Bologna 27
Rome 26
Washington 24
Zhengzhou 23
Addison 22
Auburn Hills 22
Ningbo 21
Tappahannock 20
Des Moines 18
Guangzhou 17
Taizhou 17
Lanzhou 16
Philadelphia 16
Kilburn 15
Indiana 13
Redmond 13
Los Angeles 12
Verona 11
Walnut 11
Augusta 10
Hangzhou 10
Monmouth Junction 10
Padova 10
Haikou 9
Hefei 9
Leawood 9
Toronto 9
Ardabil 8
Chicago 8
Hounslow 8
Phoenix 8
Chiswick 7
Munich 7
Pieve Di Cadore 7
Trebaseleghe 7
Montréal 6
Naples 6
Napoli 6
Pavia 6
Reggio Nell'emilia 6
Changchun 5
Ferrara di Monte Baldo 5
Jesi 5
Malvern East 5
Osasco 5
Pisa 5
Quito 5
Reggio Emilia 5
San Francisco 5
Siena 5
Turin 5
Acton 4
Castelfranco Emilia 4
Castrovillari 4
Florence 4
Guarda Veneta 4
Lappeenranta 4
Mcallen 4
New Bedfont 4
Totale 20.117
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 319
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 301
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 292
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 278
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 191
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 187
Duchenne muscular dystrophy: From diagnosis to therapy 177
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. 173
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 153
Haplotype analysis of common transthyretin mutations 148
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 146
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 146
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 145
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 143
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 143
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 142
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 140
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 136
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 135
Paternal germline mosaicism in collagen VI related myopathies 132
null 131
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 130
Exon skipping-mediated dystrophin reading frame restoration for small mutations 130
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. 129
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 129
Gender-related risk of myocardial involvement in systemic amyloidosis 128
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 126
Exon Skipping Quantification by Real-Time PCR 124
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 124
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 124
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 123
Characterization of a deleted Y chromosome in a male with Turner stigmata 123
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 122
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 122
null 121
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 120
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 120
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 120
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 119
Prevalence of congenital muscular dystrophy in Italy: a population study 119
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 118
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 118
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 117
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 117
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 115
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. 115
X-linked dilated cardiomyopathy and the dystrophin gene. 114
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 114
null 113
D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia 113
D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers 113
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 113
null 113
Biomarkers and surrogate endpoints in Duchenne: meeting report 112
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. 112
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 112
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. 111
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 111
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 111
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 111
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? 110
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 110
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 109
Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model 109
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 109
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 109
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 108
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 108
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 108
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 108
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 108
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy 107
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 107
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 107
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 107
A current approach to heart failure in Duchenne muscular dystrophy 107
G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers 106
Biomarkers in rare neuromuscular diseases. 106
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 106
Pura syndrome: an emerging neurodevelopmental disorder 106
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 106
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47 105
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. 105
Dystrophin and mutations: One gene, several proteins, multiple phenotypes 105
Transcriptional behavior of DMD gene duplications in DMD/BMD males 105
Thyroid function in Rett syndrome 105
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 105
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 105
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 104
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 104
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 104
D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies 104
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 104
Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report. 103
Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient 103
Translational and regulatory challenges for exon skipping therapies 103
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 103
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 103
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 102
A Family with γ-Thalassemia and High Hb A2 Levels 102
Totale 12.619
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Categoria #
all - tutte 94.983
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 948
Totale 95.931
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/20192.964 0 0 0 0 0 0 0 0 0 689 920 1.355
2019/20206.821 912 287 282 1.016 514 794 662 708 576 588 317 165
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
2023/20241.185 167 223 114 44 122 276 58 96 62 23 0 0
Totale 26.418