SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 18.865
EU - Europa 5.113
AS - Asia 2.555
SA - Sud America 37
Continente sconosciuto - Info sul continente non disponibili 12
OC - Oceania 11
AF - Africa 6
Totale 26.599
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Nazione #
US - Stati Uniti d'America 18.830
CN - Cina 1.454
UA - Ucraina 1.073
IT - Italia 963
PL - Polonia 938
DE - Germania 767
TR - Turchia 598
GB - Regno Unito 524
SG - Singapore 334
SE - Svezia 326
FI - Finlandia 258
FR - Francia 55
ID - Indonesia 50
BE - Belgio 46
RU - Federazione Russa 43
CZ - Repubblica Ceca 41
VN - Vietnam 37
CA - Canada 27
BR - Brasile 23
IN - India 20
NL - Olanda 20
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
KR - Corea 6
CO - Colombia 5
JP - Giappone 5
DZ - Algeria 4
MX - Messico 4
MY - Malesia 4
GR - Grecia 3
SA - Arabia Saudita 3
SI - Slovenia 3
AE - Emirati Arabi Uniti 2
BD - Bangladesh 2
BG - Bulgaria 2
CL - Cile 2
DK - Danimarca 2
HU - Ungheria 2
NZ - Nuova Zelanda 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
NO - Norvegia 1
PA - Panama 1
PE - Perù 1
PT - Portogallo 1
RS - Serbia 1
TW - Taiwan 1
ZA - Sudafrica 1
Totale 26.599
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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
Boardman 216
San Diego 211
Ferrara 202
Singapore 189
New York 160
Shanghai 153
Milan 128
Bremen 121
Shenyang 94
Dearborn 86
Nanchang 79
Hebei 76
Falls Church 74
Tianjin 71
Redwood City 67
Changsha 56
Rome 52
San Mateo 51
Jakarta 48
London 45
Jiaxing 43
Mountain View 42
Bologna 39
Brussels 38
Norwalk 38
Dong Ket 34
Jinan 34
Brno 33
Kunming 33
Helsinki 32
Orange 30
Munich 29
Washington 25
Zhengzhou 23
Addison 22
Auburn Hills 22
Los Angeles 22
Ningbo 21
Tappahannock 20
Des Moines 18
Guangzhou 17
Taizhou 17
Lanzhou 16
Philadelphia 16
Kilburn 15
Indiana 13
Redmond 13
Verona 13
Walnut 11
Augusta 10
Hangzhou 10
Monmouth Junction 10
Padova 10
Haikou 9
Hefei 9
Leawood 9
Phoenix 9
Pisa 9
Toronto 9
Ardabil 8
Chicago 8
Florence 8
Hounslow 8
Chiswick 7
Pieve Di Cadore 7
Trebaseleghe 7
Turin 7
Lappeenranta 6
Montréal 6
Naples 6
Napoli 6
Pavia 6
Reggio Emilia 6
Reggio Nell'emilia 6
Changchun 5
Ferrara di Monte Baldo 5
Jesi 5
Malvern East 5
Osasco 5
Quito 5
San Francisco 5
Siena 5
Acton 4
Brescia 4
Castelfranco Emilia 4
Totale 20.531
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 322
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 303
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 296
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 288
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 214
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 190
Duchenne muscular dystrophy: From diagnosis to therapy 182
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis. 176
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 155
Haplotype analysis of common transthyretin mutations 149
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 148
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 148
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 148
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 146
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 146
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 143
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 141
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 140
Exon skipping-mediated dystrophin reading frame restoration for small mutations 137
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 137
Paternal germline mosaicism in collagen VI related myopathies 134
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 133
null 131
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. 130
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 130
Gender-related risk of myocardial involvement in systemic amyloidosis 129
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 127
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 126
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 125
Exon Skipping Quantification by Real-Time PCR 125
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 125
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 124
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 124
Characterization of a deleted Y chromosome in a male with Turner stigmata 124
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 123
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 122
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 122
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 122
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 121
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 121
null 121
Prevalence of congenital muscular dystrophy in Italy: a population study 120
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 119
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 118
D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers 117
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 116
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. 116
X-linked dilated cardiomyopathy and the dystrophin gene. 115
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 115
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 115
Biomarkers and surrogate endpoints in Duchenne: meeting report 115
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 115
D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia 114
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 114
Pura syndrome: an emerging neurodevelopmental disorder 114
null 113
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. 113
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 113
null 113
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 113
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 113
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 112
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. 112
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 112
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 112
Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? 111
Thyroid function in Rett syndrome 111
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 111
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 110
Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model 110
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 110
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 110
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 109
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy 109
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy 108
Biomarkers in rare neuromuscular diseases. 108
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 108
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 108
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 108
A current approach to heart failure in Duchenne muscular dystrophy 108
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 108
Autosomal recessive Bethlem myopathy 107
G.P.15 Whole transcriptome expression profiling in COL6a1 null mice shows deregulation of circadian clock genes as exploratory COL6 myopathies biomarkers 107
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 107
Dystrophin and mutations: One gene, several proteins, multiple phenotypes 107
Transcriptional behavior of DMD gene duplications in DMD/BMD males 107
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 107
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47 106
In vivo study of an aberrant dystrophin exon inclusion in X-linked dilated cardiomyopathy. 106
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. 106
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 106
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 106
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 106
Prenatal diagnosis of a complete mole coexisting with a dichorionic twin pregnancy: case report. 105
Transthyretin amyloidosis and superficial siderosis of the CNS 105
Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient 105
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 105
D.P.7 Whole exome sequencing as genetic diagnostic tool in myofibrillar myopathies 105
A Family with γ-Thalassemia and High Hb A2 Levels 105
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 105
Totale 12.857
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Categoria #
all - tutte 110.126
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.075
Totale 111.201
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2023/20241.735 167 223 114 44 122 276 58 96 62 52 54 467
2024/2025127 127 0 0 0 0 0 0 0 0 0 0 0
Totale 27.095