SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 30.180
AS - Asia 14.567
EU - Europa 9.306
SA - Sud America 2.496
Continente sconosciuto - Info sul continente non disponibili 549
AF - Africa 327
OC - Oceania 85
AN - Antartide 1
Totale 57.511
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Nazione #
US - Stati Uniti d'America 29.429
SG - Singapore 5.758
CN - Cina 3.274
IT - Italia 2.006
BR - Brasile 1.943
VN - Vietnam 1.637
DE - Germania 1.599
HK - Hong Kong 1.212
UA - Ucraina 1.166
PL - Polonia 1.065
GB - Regno Unito 879
TR - Turchia 693
FI - Finlandia 565
BD - Bangladesh 476
SE - Svezia 456
FR - Francia 440
RU - Federazione Russa 395
JP - Giappone 364
CA - Canada 343
IN - India 313
MX - Messico 275
AR - Argentina 220
ID - Indonesia 197
NL - Olanda 160
ZA - Sudafrica 125
IQ - Iraq 117
ES - Italia 105
BE - Belgio 97
EC - Ecuador 84
PK - Pakistan 79
CO - Colombia 77
AU - Australia 68
AT - Austria 67
LT - Lituania 57
CZ - Repubblica Ceca 55
PH - Filippine 52
MA - Marocco 50
SA - Arabia Saudita 50
VE - Venezuela 50
UZ - Uzbekistan 43
CL - Cile 37
MY - Malesia 32
TN - Tunisia 31
PY - Paraguay 30
JM - Giamaica 29
AE - Emirati Arabi Uniti 28
KE - Kenya 27
IE - Irlanda 26
EG - Egitto 24
CH - Svizzera 23
KR - Corea 23
RO - Romania 22
JO - Giordania 21
NP - Nepal 21
DZ - Algeria 20
IR - Iran 20
LK - Sri Lanka 19
PE - Perù 19
CR - Costa Rica 17
RS - Serbia 17
UY - Uruguay 16
AZ - Azerbaigian 15
BO - Bolivia 15
IL - Israele 15
NZ - Nuova Zelanda 14
PS - Palestinian Territory 14
DO - Repubblica Dominicana 13
EU - Europa 12
GR - Grecia 11
ET - Etiopia 10
GT - Guatemala 10
HN - Honduras 10
KZ - Kazakistan 10
SV - El Salvador 10
AL - Albania 9
BB - Barbados 9
BY - Bielorussia 9
HU - Ungheria 9
OM - Oman 9
PA - Panama 9
QA - Qatar 9
TW - Taiwan 9
SN - Senegal 8
TH - Thailandia 8
BG - Bulgaria 7
CY - Cipro 7
DK - Danimarca 7
KG - Kirghizistan 7
LB - Libano 7
PT - Portogallo 7
MD - Moldavia 6
MK - Macedonia 6
SY - Repubblica araba siriana 6
BH - Bahrain 5
EE - Estonia 5
HR - Croazia 5
LV - Lettonia 5
NG - Nigeria 5
TT - Trinidad e Tobago 5
AO - Angola 4
Totale 56.884
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Città #
Ashburn 3.496
Singapore 3.469
Fairfield 2.906
Woodbridge 2.361
San Jose 1.867
Houston 1.642
Chandler 1.426
Jacksonville 1.265
Ann Arbor 1.224
Hong Kong 1.184
Santa Clara 1.176
Beijing 1.139
Seattle 1.108
Warsaw 1.047
Wilmington 971
Cambridge 954
Ho Chi Minh City 543
Munich 528
Los Angeles 517
Council Bluffs 513
New York 501
Dallas 401
Izmir 388
Hanoi 352
Nanjing 341
Tokyo 336
Princeton 298
Lauterbourg 264
Milan 255
Ferrara 243
Boardman 224
San Diego 217
São Paulo 192
Helsinki 189
Mexico City 183
Shanghai 178
Buffalo 158
Orem 153
London 133
Turku 133
Jakarta 128
Bremen 121
Rome 118
Chicago 117
Toronto 109
Tianjin 96
Shenyang 95
Montreal 93
Da Nang 87
Falkenstein 87
Hefei 87
Dearborn 86
Frankfurt am Main 86
Brooklyn 85
Phoenix 82
Johannesburg 81
Denver 80
Bologna 79
Nanchang 79
Brussels 78
Hebei 76
Falls Church 75
Chennai 73
Atlanta 70
Stockholm 70
The Dalles 69
Redwood City 67
Changsha 62
Poplar 62
San Francisco 61
Haiphong 60
Rio de Janeiro 58
Brescia 56
Nuremberg 56
Moscow 55
Baghdad 52
Manchester 51
San Mateo 51
Boston 50
Brasília 46
Jiaxing 44
Belo Horizonte 43
Columbus 42
Mountain View 42
Amsterdam 41
Hải Dương 41
Tashkent 40
Jinan 39
Washington 39
Norwalk 38
Dong Ket 34
Guangzhou 34
Kunming 34
Sydney 34
Brno 33
Mumbai 33
Charlotte 31
Curitiba 31
Orange 31
Ottawa 29
Totale 38.302
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Nome #
Duchenne muscular dystrophy: From diagnosis to therapy 578
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 481
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 457
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 431
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 429
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 412
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 325
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 322
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 311
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 304
A Family with γ-Thalassemia and High Hb A2 Levels 297
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 292
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 288
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 282
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 280
Paternal germline mosaicism in collagen VI related myopathies 279
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 278
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 276
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 276
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 275
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 274
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 272
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 267
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 265
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 263
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 262
Characterization of a deleted Y chromosome in a male with Turner stigmata 260
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 259
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 258
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 257
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 256
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 252
Autosomal recessive Bethlem myopathy 250
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 250
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 249
Exon skipping-mediated dystrophin reading frame restoration for small mutations 248
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 245
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 244
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 243
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 243
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 242
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 241
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 240
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 239
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 239
Novel mutations in the SLC26A4 gene 238
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping 236
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 235
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 235
Attualità e nuove prospettive in tema di cardiogenetica 232
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point 231
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 231
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 230
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 229
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 228
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 228
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 227
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice 227
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 224
Biomarkers in rare neuromuscular diseases 223
A current approach to heart failure in Duchenne muscular dystrophy 223
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders 222
Biodistribution Studies of Polymeric Nanoparticles for Drug Delivery in Mice. 221
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 220
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 219
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 219
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 219
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 217
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 217
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 217
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 217
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 217
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 216
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 216
Exon Skipping Quantification by Real-Time PCR 215
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 213
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 213
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 213
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 212
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 211
Transcriptional behavior of DMD gene duplications in DMD/BMD males 211
Haplotype analysis of common transthyretin mutations 211
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 210
An interconnected data infrastructure to support large-scale rare disease research 209
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 209
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 208
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 206
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy 206
X-linked dilated cardiomyopathy and the dystrophin gene. 204
Thyroid function in Rett syndrome 204
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 203
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 203
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 202
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure 202
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 200
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 200
Prevalence of congenital muscular dystrophy in Italy: a population study 200
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 200
Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies 199
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 196
Totale 25.065
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Categoria #
all - tutte 254.020
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.257
Totale 256.277
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20223.021 0 267 270 113 165 147 202 174 138 242 324 979
2022/20233.252 331 263 72 415 585 439 113 303 401 37 175 118
2023/20241.733 166 223 114 44 122 276 58 96 62 52 54 466
2024/20257.738 183 137 577 290 951 643 430 471 1.362 887 986 821
2025/202621.300 1.932 853 1.872 2.866 3.018 1.324 2.662 1.113 1.881 2.097 1.099 583
2026/20271.518 828 690 0 0 0 0 0 0 0 0 0 0
Totale 57.511