SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 28.989
AS - Asia 14.170
EU - Europa 9.029
SA - Sud America 2.482
AF - Africa 327
OC - Oceania 84
Continente sconosciuto - Info sul continente non disponibili 15
AN - Antartide 1
Totale 55.097
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Nazione #
US - Stati Uniti d'America 28.344
SG - Singapore 5.668
CN - Cina 3.187
BR - Brasile 1.944
IT - Italia 1.805
VN - Vietnam 1.646
DE - Germania 1.602
UA - Ucraina 1.165
HK - Hong Kong 1.138
PL - Polonia 1.064
GB - Regno Unito 878
TR - Turchia 693
FI - Finlandia 567
FR - Francia 437
SE - Svezia 401
RU - Federazione Russa 396
JP - Giappone 363
BD - Bangladesh 331
IN - India 314
CA - Canada 278
MX - Messico 265
AR - Argentina 218
ID - Indonesia 197
NL - Olanda 157
ZA - Sudafrica 125
IQ - Iraq 118
ES - Italia 100
BE - Belgio 92
EC - Ecuador 84
PK - Pakistan 79
CO - Colombia 73
AT - Austria 67
AU - Australia 67
LT - Lituania 57
CZ - Repubblica Ceca 54
PH - Filippine 51
MA - Marocco 50
SA - Arabia Saudita 50
VE - Venezuela 46
UZ - Uzbekistan 43
CL - Cile 34
TN - Tunisia 31
PY - Paraguay 30
AE - Emirati Arabi Uniti 28
MY - Malesia 28
KE - Kenya 27
IE - Irlanda 25
EG - Egitto 24
CH - Svizzera 23
KR - Corea 23
RO - Romania 22
JO - Giordania 21
NP - Nepal 21
DZ - Algeria 20
IR - Iran 20
JM - Giamaica 20
LK - Sri Lanka 19
PE - Perù 17
RS - Serbia 17
UY - Uruguay 16
BO - Bolivia 15
IL - Israele 15
AZ - Azerbaigian 14
NZ - Nuova Zelanda 14
CR - Costa Rica 12
DO - Repubblica Dominicana 12
EU - Europa 12
PS - Palestinian Territory 12
GR - Grecia 11
KZ - Kazakistan 11
ET - Etiopia 10
HN - Honduras 10
AL - Albania 9
BY - Bielorussia 9
OM - Oman 9
PA - Panama 9
TW - Taiwan 9
BB - Barbados 8
HU - Ungheria 8
QA - Qatar 8
SN - Senegal 8
SV - El Salvador 8
TH - Thailandia 8
BG - Bulgaria 7
GT - Guatemala 7
KG - Kirghizistan 7
LB - Libano 7
PT - Portogallo 7
CY - Cipro 6
DK - Danimarca 6
MD - Moldavia 6
MK - Macedonia 6
SY - Repubblica araba siriana 6
BH - Bahrain 5
EE - Estonia 5
HR - Croazia 5
NG - Nigeria 5
TT - Trinidad e Tobago 5
AO - Angola 4
GA - Gabon 4
Totale 55.019
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Città #
Ashburn 3.398
Singapore 3.395
Fairfield 2.906
Woodbridge 2.361
San Jose 1.774
Houston 1.639
Chandler 1.434
Jacksonville 1.265
Ann Arbor 1.224
Hong Kong 1.110
Seattle 1.108
Beijing 1.071
Warsaw 1.047
Santa Clara 1.028
Wilmington 970
Cambridge 953
Ho Chi Minh City 546
Munich 530
New York 485
Los Angeles 481
Dallas 389
Izmir 388
Hanoi 354
Nanjing 341
Tokyo 336
Princeton 297
Lauterbourg 265
Ferrara 236
Milan 229
Boardman 224
Council Bluffs 212
San Diego 212
São Paulo 194
Helsinki 191
Shanghai 176
Mexico City 172
Orem 154
Buffalo 148
Turku 133
London 130
Jakarta 128
Bremen 121
Chicago 114
Rome 99
Tianjin 96
Shenyang 95
Montreal 90
Da Nang 87
Falkenstein 87
Hefei 87
Dearborn 86
Frankfurt am Main 86
Brooklyn 82
Johannesburg 81
Nanchang 79
Brussels 78
Denver 78
Hebei 76
Falls Church 75
Chennai 73
Bologna 72
Stockholm 70
The Dalles 69
Phoenix 67
Redwood City 67
Atlanta 65
Toronto 65
Changsha 62
Poplar 62
Haiphong 60
Rio de Janeiro 58
Nuremberg 57
Brescia 56
Moscow 55
San Francisco 55
Baghdad 52
Manchester 51
San Mateo 51
Boston 49
Brasília 46
Jiaxing 44
Belo Horizonte 43
Mountain View 42
Amsterdam 41
Hải Dương 41
Columbus 40
Tashkent 40
Jinan 39
Norwalk 38
Dong Ket 34
Guangzhou 34
Kunming 34
Mumbai 34
Washington 34
Brno 33
Sydney 33
Curitiba 31
Orange 30
Ottawa 29
Ankara 28
Totale 37.215
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Nome #
Duchenne muscular dystrophy: From diagnosis to therapy 561
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 472
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 448
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 411
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 319
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 310
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 305
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 298
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 282
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 281
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 276
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 275
A Family with γ-Thalassemia and High Hb A2 Levels 274
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 272
Paternal germline mosaicism in collagen VI related myopathies 272
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 272
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 269
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 267
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 264
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 264
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 261
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 260
Characterization of a deleted Y chromosome in a male with Turner stigmata 256
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 255
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 254
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 252
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 251
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 251
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 248
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 247
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 245
Autosomal recessive Bethlem myopathy 244
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 242
Exon skipping-mediated dystrophin reading frame restoration for small mutations 241
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 241
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 240
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 239
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 235
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 234
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 233
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 231
Novel mutations in the SLC26A4 gene 231
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 230
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping 230
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 230
Attualità e nuove prospettive in tema di cardiogenetica 230
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 228
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 228
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 227
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 225
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 224
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point 223
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 222
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 222
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders 221
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice 220
Biomarkers in rare neuromuscular diseases 219
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 218
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 217
A current approach to heart failure in Duchenne muscular dystrophy 216
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 215
Biodistribution Studies of Polymeric Nanoparticles for Drug Delivery in Mice. 215
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 214
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 214
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 214
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 213
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 211
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 211
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 211
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 210
Exon Skipping Quantification by Real-Time PCR 210
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 209
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 209
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 208
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 208
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 208
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 207
Transcriptional behavior of DMD gene duplications in DMD/BMD males 207
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 207
Haplotype analysis of common transthyretin mutations 207
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 205
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 204
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 202
Thyroid function in Rett syndrome 202
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 202
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 201
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 201
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy 201
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 200
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 197
X-linked dilated cardiomyopathy and the dystrophin gene. 196
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 196
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure 196
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 195
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 194
T.P.2.07 The systemic administration of a low dose of 2OMePS-AON combined with novel cationic polymethylmethacrylate nanoparticles induces the rescue of dystrophin expression in the mdx murine model 194
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 192
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 192
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 191
Totale 24.211
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Categoria #
all - tutte 239.507
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.125
Totale 241.632
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021250 0 0 0 0 0 0 0 0 0 0 0 250
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
2025/202620.888 1.942 857 1.875 2.871 3.031 1.329 2.673 1.118 1.885 2.104 1.100 103
Totale 55.628