SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 31.163
AS - Asia 14.613
EU - Europa 9.384
SA - Sud America 2.514
Continente sconosciuto - Info sul continente non disponibili 550
AF - Africa 328
OC - Oceania 86
AN - Antartide 1
Totale 58.639
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Nazione #
US - Stati Uniti d'America 30.384
SG - Singapore 5.764
CN - Cina 3.286
IT - Italia 2.073
BR - Brasile 1.945
VN - Vietnam 1.640
DE - Germania 1.599
HK - Hong Kong 1.219
UA - Ucraina 1.166
PL - Polonia 1.065
GB - Regno Unito 880
TR - Turchia 694
FI - Finlandia 566
BD - Bangladesh 478
SE - Svezia 458
FR - Francia 440
RU - Federazione Russa 395
JP - Giappone 364
CA - Canada 353
IN - India 314
MX - Messico 275
AR - Argentina 222
ID - Indonesia 200
NL - Olanda 166
ZA - Sudafrica 125
IQ - Iraq 117
ES - Italia 105
BE - Belgio 97
EC - Ecuador 87
CO - Colombia 84
PK - Pakistan 79
AU - Australia 69
AT - Austria 67
LT - Lituania 57
CZ - Repubblica Ceca 55
PH - Filippine 55
VE - Venezuela 53
MA - Marocco 50
SA - Arabia Saudita 50
UZ - Uzbekistan 43
CL - Cile 37
MY - Malesia 35
JM - Giamaica 32
TN - Tunisia 31
AE - Emirati Arabi Uniti 30
PY - Paraguay 30
KE - Kenya 28
IE - Irlanda 26
EG - Egitto 24
CH - Svizzera 23
KR - Corea 23
NP - Nepal 22
RO - Romania 22
JO - Giordania 21
DZ - Algeria 20
IR - Iran 20
LK - Sri Lanka 19
PE - Perù 19
CR - Costa Rica 17
IL - Israele 17
RS - Serbia 17
UY - Uruguay 17
AZ - Azerbaigian 15
BO - Bolivia 15
GT - Guatemala 15
NZ - Nuova Zelanda 14
PS - Palestinian Territory 14
DO - Repubblica Dominicana 13
EU - Europa 12
GR - Grecia 11
HN - Honduras 11
SV - El Salvador 11
BB - Barbados 10
ET - Etiopia 10
KZ - Kazakistan 10
AL - Albania 9
BY - Bielorussia 9
HU - Ungheria 9
OM - Oman 9
PA - Panama 9
QA - Qatar 9
TT - Trinidad e Tobago 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
MD - Moldavia 7
PR - Porto Rico 7
PT - Portogallo 7
MK - Macedonia 6
SY - Repubblica araba siriana 6
BH - Bahrain 5
EE - Estonia 5
HR - Croazia 5
LV - Lettonia 5
NG - Nigeria 5
Totale 58.011
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Città #
Ashburn 3.505
Singapore 3.472
Fairfield 2.906
Woodbridge 2.361
San Jose 2.139
Houston 1.646
Chandler 1.426
Jacksonville 1.265
Ann Arbor 1.224
Santa Clara 1.204
Hong Kong 1.191
Beijing 1.150
Seattle 1.109
Warsaw 1.047
Wilmington 971
Cambridge 954
Council Bluffs 862
Ho Chi Minh City 544
Munich 528
Los Angeles 522
New York 502
Dallas 405
Izmir 388
Hanoi 354
Nanjing 341
Tokyo 336
Princeton 298
Milan 268
Lauterbourg 264
Ferrara 243
Boardman 224
San Diego 218
São Paulo 192
Helsinki 190
Mexico City 183
Shanghai 178
Buffalo 163
Orem 153
London 134
Turku 133
Jakarta 128
Rome 128
Chicago 124
Bremen 121
Phoenix 117
Toronto 109
Montreal 96
Tianjin 96
Shenyang 95
Da Nang 87
Falkenstein 87
Hefei 87
Dearborn 86
Frankfurt am Main 86
Brooklyn 85
Denver 81
Johannesburg 81
Bologna 80
Nanchang 79
Brussels 78
Hebei 76
Falls Church 75
Chennai 73
Atlanta 72
Stockholm 70
The Dalles 69
Redwood City 67
San Francisco 63
Changsha 62
Poplar 62
Haiphong 60
Rio de Janeiro 58
Brescia 56
Nuremberg 56
Moscow 55
Baghdad 52
Boston 51
Manchester 51
San Mateo 51
Brasília 47
Jiaxing 44
Belo Horizonte 43
Columbus 42
Mountain View 42
Amsterdam 41
Hải Dương 41
Washington 41
Tashkent 40
Jinan 39
Norwalk 38
Sydney 35
Dong Ket 34
Guangzhou 34
Kunming 34
Brno 33
Charlotte 33
Mumbai 33
Curitiba 31
Naples 31
Orange 31
Totale 39.090
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Nome #
Duchenne muscular dystrophy: From diagnosis to therapy 583
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 485
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 460
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 437
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 432
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 413
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 326
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 324
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 315
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 307
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 303
A Family with γ-Thalassemia and High Hb A2 Levels 299
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 295
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 289
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 286
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 283
Paternal germline mosaicism in collagen VI related myopathies 282
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 280
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 279
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 277
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 276
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 276
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 271
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 271
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 268
Characterization of a deleted Y chromosome in a male with Turner stigmata 268
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 267
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 265
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 261
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 259
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 258
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 255
Autosomal recessive Bethlem myopathy 254
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 253
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 253
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 252
Exon skipping-mediated dystrophin reading frame restoration for small mutations 251
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 247
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 246
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 245
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 245
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 244
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 244
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 242
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 242
Novel mutations in the SLC26A4 gene 241
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 241
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 241
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping 240
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 239
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point 236
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 236
Attualità e nuove prospettive in tema di cardiogenetica 236
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 234
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 233
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 232
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 230
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice 230
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 228
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders 226
Biodistribution Studies of Polymeric Nanoparticles for Drug Delivery in Mice. 225
Biomarkers in rare neuromuscular diseases 225
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 224
A current approach to heart failure in Duchenne muscular dystrophy 224
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 223
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 222
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 221
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 221
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 220
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 220
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 220
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 219
Haplotype analysis of common transthyretin mutations 219
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 219
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 218
Exon Skipping Quantification by Real-Time PCR 217
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 217
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 216
Transcriptional behavior of DMD gene duplications in DMD/BMD males 215
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 215
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 213
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 213
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 213
X-linked dilated cardiomyopathy and the dystrophin gene. 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 212
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy 212
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 211
An interconnected data infrastructure to support large-scale rare disease research 210
Thyroid function in Rett syndrome 210
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 208
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 206
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 206
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 205
Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies 205
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 205
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 204
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure 204
Prevalence of congenital muscular dystrophy in Italy: a population study 202
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 202
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 201
Totale 25.445
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Categoria #
all - tutte 259.405
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.296
Totale 261.701
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20222.754 0 0 270 113 165 147 202 174 138 242 324 979
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
2026/20272.646 828 1.216 602 0 0 0 0 0 0 0 0 0
Totale 58.639