SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 24.885
AS - Asia 10.487
EU - Europa 7.931
SA - Sud America 2.038
AF - Africa 184
OC - Oceania 73
Continente sconosciuto - Info sul continente non disponibili 13
AN - Antartide 1
Totale 45.612
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Nazione #
US - Stati Uniti d'America 24.370
SG - Singapore 4.641
CN - Cina 2.787
BR - Brasile 1.712
DE - Germania 1.542
IT - Italia 1.449
UA - Ucraina 1.142
PL - Polonia 1.041
HK - Hong Kong 1.035
GB - Regno Unito 811
TR - Turchia 645
VN - Vietnam 576
FI - Finlandia 495
SE - Svezia 393
RU - Federazione Russa 374
MX - Messico 234
CA - Canada 225
ID - Indonesia 168
IN - India 161
AR - Argentina 147
FR - Francia 123
NL - Olanda 119
JP - Giappone 107
ZA - Sudafrica 90
BE - Belgio 89
ES - Italia 79
BD - Bangladesh 64
AT - Austria 61
AU - Australia 56
CZ - Repubblica Ceca 53
EC - Ecuador 53
IQ - Iraq 52
LT - Lituania 48
PK - Pakistan 38
CO - Colombia 35
MA - Marocco 35
VE - Venezuela 25
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
AE - Emirati Arabi Uniti 14
NZ - Nuova Zelanda 14
PE - Perù 14
DZ - Algeria 13
IE - Irlanda 13
RO - Romania 13
EU - Europa 12
UY - Uruguay 12
JO - Giordania 11
IL - Israele 10
MY - Malesia 10
AZ - Azerbaigian 9
NP - Nepal 9
PH - Filippine 8
BB - Barbados 7
CR - Costa Rica 7
HN - Honduras 7
TN - Tunisia 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
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
GA - Gabon 4
KZ - Kazakistan 4
QA - Qatar 4
SV - El Salvador 4
TH - Thailandia 4
TT - Trinidad e Tobago 4
GT - Guatemala 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 45.572
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Città #
Fairfield 2.906
Ashburn 2.510
Singapore 2.495
Woodbridge 2.361
Houston 1.629
Chandler 1.434
Jacksonville 1.262
Ann Arbor 1.224
Seattle 1.103
Warsaw 1.028
Hong Kong 1.022
Beijing 1.014
Wilmington 970
Santa Clara 967
Cambridge 952
Munich 528
Los Angeles 423
Izmir 387
Dallas 364
New York 351
Nanjing 341
Princeton 297
Ferrara 228
Boardman 216
San Diego 212
Milan 207
Ho Chi Minh City 201
Mexico City 165
Shanghai 165
São Paulo 164
Turku 133
Jakarta 124
Bremen 121
Buffalo 119
Helsinki 119
London 115
Chicago 103
Hanoi 99
Shenyang 95
Tianjin 92
Falkenstein 87
Tokyo 87
Dearborn 86
Hefei 86
Nanchang 79
Rome 77
Brussels 76
Hebei 76
Brooklyn 75
Falls Church 75
Montreal 71
Denver 68
Redwood City 67
Stockholm 67
Johannesburg 63
Changsha 61
Orem 60
The Dalles 59
Bologna 58
Phoenix 58
Chennai 57
Poplar 57
Atlanta 55
Nuremberg 54
Moscow 53
Toronto 52
Rio de Janeiro 51
San Mateo 51
Brescia 50
San Francisco 48
Boston 45
Brasília 44
Jiaxing 44
Frankfurt am Main 42
Mountain View 42
Belo Horizonte 40
Jinan 38
Norwalk 38
Columbus 37
Dong Ket 34
Manchester 34
Brno 33
Kunming 33
Washington 31
Orange 30
Curitiba 29
Da Nang 29
Sydney 29
Baghdad 27
Guangzhou 27
Amsterdam 26
Ottawa 26
Mumbai 25
Zhengzhou 25
Council Bluffs 24
Ankara 23
Addison 22
Auburn Hills 22
Charlotte 22
Ningbo 22
Totale 31.153
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Nome #
Duchenne muscular dystrophy: From diagnosis to therapy 499
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 423
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 384
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 380
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 374
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 285
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 280
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 264
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 250
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 247
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 243
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 241
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 238
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 238
A Family with γ-Thalassemia and High Hb A2 Levels 234
Paternal germline mosaicism in collagen VI related myopathies 231
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 229
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 227
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 225
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 224
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 222
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 212
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 211
Exon skipping-mediated dystrophin reading frame restoration for small mutations 210
Characterization of a deleted Y chromosome in a male with Turner stigmata 210
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 209
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 206
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 206
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 205
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 204
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 204
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 204
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 203
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 202
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 202
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 201
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 199
Autosomal recessive Bethlem myopathy 199
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 197
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 195
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 195
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 195
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point 192
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 192
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders 192
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping 192
Novel mutations in the SLC26A4 gene 191
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 190
Attualità e nuove prospettive in tema di cardiogenetica 190
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 189
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 188
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 187
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 186
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 186
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 185
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 184
Biomarkers in rare neuromuscular diseases 184
A current approach to heart failure in Duchenne muscular dystrophy 184
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 184
Haplotype analysis of common transthyretin mutations 184
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 182
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 182
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice 181
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 181
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 181
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 181
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 181
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 181
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 179
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 178
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 178
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 178
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 178
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 177
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 176
Transcriptional behavior of DMD gene duplications in DMD/BMD males 176
Biodistribution Studies of Polymeric Nanoparticles for Drug Delivery in Mice. 175
Exon Skipping Quantification by Real-Time PCR 175
X-linked dilated cardiomyopathy and the dystrophin gene. 174
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 174
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 174
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 174
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 173
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 173
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 172
Gender-related risk of myocardial involvement in systemic amyloidosis 171
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 169
Prevalence of congenital muscular dystrophy in Italy: a population study 169
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 169
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 168
Thyroid function in Rett syndrome 168
Dystrophin and mutations: One gene, several proteins, multiple phenotypes 167
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 166
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 165
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 165
Pura syndrome: an emerging neurodevelopmental disorder 164
Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality 163
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 163
Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies 163
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 163
Totale 20.514
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Categoria #
all - tutte 215.501
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 1.911
Totale 217.412
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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
2025/202611.401 1.942 857 1.875 2.871 3.031 825 0 0 0 0 0 0
Totale 46.141