SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 20.814
EU - Europa 6.250
AS - Asia 4.858
SA - Sud America 847
AF - Africa 50
OC - Oceania 19
Continente sconosciuto - Info sul continente non disponibili 12
Totale 32.850
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Nazione #
US - Stati Uniti d'America 20.676
SG - Singapore 2.231
CN - Cina 1.568
IT - Italia 1.188
DE - Germania 1.165
UA - Ucraina 1.128
PL - Polonia 950
BR - Brasile 770
TR - Turchia 617
GB - Regno Unito 606
FI - Finlandia 371
SE - Svezia 331
ID - Indonesia 112
CA - Canada 100
RU - Federazione Russa 97
HK - Hong Kong 82
BE - Belgio 77
NL - Olanda 71
FR - Francia 60
VN - Vietnam 49
CZ - Repubblica Ceca 47
AT - Austria 41
IN - India 34
ES - Italia 25
LT - Lituania 23
AR - Argentina 22
MX - Messico 19
IR - Iran 18
LK - Sri Lanka 18
BD - Bangladesh 17
PK - Pakistan 16
AU - Australia 15
ZA - Sudafrica 15
CO - Colombia 14
MA - Marocco 14
IQ - Iraq 13
CH - Svizzera 12
EC - Ecuador 12
EU - Europa 12
JP - Giappone 12
CL - Cile 11
RO - Romania 10
DZ - Algeria 8
KR - Corea 8
PH - Filippine 6
VE - Venezuela 6
AZ - Azerbaigian 5
BY - Bielorussia 5
GR - Grecia 5
MY - Malesia 5
RS - Serbia 5
AE - Emirati Arabi Uniti 4
HU - Ungheria 4
IE - Irlanda 4
JO - Giordania 4
NP - Nepal 4
NZ - Nuova Zelanda 4
PA - Panama 4
PS - Palestinian Territory 4
PY - Paraguay 4
UZ - Uzbekistan 4
BO - Bolivia 3
CY - Cipro 3
DK - Danimarca 3
EG - Egitto 3
HN - Honduras 3
KE - Kenya 3
LB - Libano 3
PE - Perù 3
SA - Arabia Saudita 3
SI - Slovenia 3
TN - Tunisia 3
TW - Taiwan 3
AL - Albania 2
BG - Bulgaria 2
CR - Costa Rica 2
DO - Repubblica Dominicana 2
GH - Ghana 2
GT - Guatemala 2
HR - Croazia 2
IL - Israele 2
JM - Giamaica 2
KG - Kirghizistan 2
LV - Lettonia 2
MD - Moldavia 2
OM - Oman 2
PR - Porto Rico 2
QA - Qatar 2
UY - Uruguay 2
VA - Santa Sede (Città del Vaticano) 2
AO - Angola 1
EE - Estonia 1
GE - Georgia 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LA - Repubblica Popolare Democratica del Laos 1
LI - Liechtenstein 1
MC - Monaco 1
MK - Macedonia 1
Totale 32.842
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Città #
Fairfield 2.906
Woodbridge 2.359
Houston 1.602
Chandler 1.434
Ashburn 1.326
Jacksonville 1.258
Ann Arbor 1.224
Seattle 1.090
Wilmington 968
Cambridge 951
Warsaw 948
Santa Clara 909
Singapore 871
Izmir 387
Nanjing 339
Beijing 336
Princeton 297
Munich 231
Boardman 216
San Diego 211
Ferrara 205
Milan 180
New York 175
Shanghai 162
Bremen 121
Los Angeles 117
Helsinki 116
Jakarta 107
Shenyang 94
Dearborn 86
Hong Kong 81
London 80
Nanchang 79
Hebei 76
Falls Church 74
Tianjin 71
Brussels 69
Rome 69
Redwood City 67
Changsha 56
The Dalles 53
São Paulo 52
San Mateo 51
Falkenstein 49
Bologna 48
Jiaxing 43
Mountain View 42
Norwalk 38
Jinan 35
Dong Ket 34
Brno 33
Kunming 33
Nuremberg 33
Toronto 33
Orange 30
Washington 30
Chicago 26
Ottawa 25
Zhengzhou 24
Belo Horizonte 23
Frankfurt am Main 23
Addison 22
Auburn Hills 22
Brasília 21
Guangzhou 21
Ningbo 21
Council Bluffs 20
San Francisco 20
Tappahannock 20
Rio de Janeiro 19
Turku 19
Des Moines 18
Philadelphia 17
Taizhou 17
Curitiba 16
Lanzhou 16
Kilburn 15
Verona 15
Florence 14
Brooklyn 13
Indiana 13
Montreal 13
Redmond 13
Vienna 13
Guarulhos 12
Lappeenranta 12
Padova 12
Phoenix 12
Pisa 11
Walnut 11
Augusta 10
Boston 10
Campinas 10
Haikou 10
Hangzhou 10
Hefei 10
Monmouth Junction 10
Ribeirão Preto 10
Leawood 9
Naples 9
Totale 23.272
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 353
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 333
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 329
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 324
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 241
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 239
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 220
Duchenne muscular dystrophy: From diagnosis to therapy 219
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 196
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 195
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 190
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 187
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 182
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 179
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 174
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 173
Paternal germline mosaicism in collagen VI related myopathies 170
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 167
Exon skipping-mediated dystrophin reading frame restoration for small mutations 164
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 163
Occurrence of del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele. 162
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 162
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 159
Haplotype analysis of common transthyretin mutations 159
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 153
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 153
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 151
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 149
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point. 147
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 147
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 147
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 147
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 147
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 146
Exon Skipping Quantification by Real-Time PCR 146
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 146
Characterization of a deleted Y chromosome in a male with Turner stigmata 146
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 145
Gender-related risk of myocardial involvement in systemic amyloidosis 144
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 144
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 144
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 144
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 143
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 142
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. 142
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 142
Autosomal recessive Bethlem myopathy 140
Prevalence of congenital muscular dystrophy in Italy: a population study 140
A Family with γ-Thalassemia and High Hb A2 Levels 139
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 138
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 138
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 138
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 138
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 138
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 137
A current approach to heart failure in Duchenne muscular dystrophy 137
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 137
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey. 136
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 136
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 135
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females. 134
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 134
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 134
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 133
Transcriptional behavior of DMD gene duplications in DMD/BMD males 133
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 133
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 133
Attualità e nuove prospettive in tema di cardiogenetica 133
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 132
Pura syndrome: an emerging neurodevelopmental disorder 132
null 131
Biomarkers in rare neuromuscular diseases. 131
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 131
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 130
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 129
D.P.12 Whole exome sequencing and RNAseq in a Duchenne-like female with no dystrophin mutations: Search for dystrophin gene modifiers 129
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 129
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 129
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 128
Biomarkers and surrogate endpoints in Duchenne: meeting report 128
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 128
Dystrophin and mutations: One gene, several proteins, multiple phenotypes 127
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 127
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 126
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 125
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression. 124
X-linked dilated cardiomyopathy and the dystrophin gene. 124
D.P.9 Whole exome sequencing filtered by novel candidate genes as tool for gene discovery in a recessive family with Parkinson and ataxia 124
Novel mutations in the SLC26A4 gene 124
Thyroid function in Rett syndrome 124
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 124
Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model 123
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 123
Tempo and mode of evolution of a primate-specific retrotransposon belonging to the LINE 1 family. 123
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 122
Biomarkers in Rare Diseases 122
Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: A putative novel 'hot spot' in codon 47 121
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 121
null 121
Coexistent central and peripheral nervous system involvement in a Charcot-Marie-Tooth syndrome X-linked patient 121
Totale 15.282
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Categoria #
all - tutte 168.709
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.513
Totale 170.222
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020482 0 0 0 0 0 0 0 0 0 0 317 165
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
2024/20256.406 183 140 579 292 955 646 430 471 1.369 892 449 0
Totale 33.374