SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

FERLINI, Alessandra
 Distribuzione geografica
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Continente #
NA - Nord America 27.987
AS - Asia 13.859
EU - Europa 8.813
SA - Sud America 2.481
AF - Africa 327
OC - Oceania 84
Continente sconosciuto - Info sul continente non disponibili 15
AN - Antartide 1
Totale 53.567
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Nazione #
US - Stati Uniti d'America 27.381
SG - Singapore 5.611
CN - Cina 3.140
BR - Brasile 1.944
VN - Vietnam 1.646
IT - Italia 1.607
DE - Germania 1.602
UA - Ucraina 1.165
HK - Hong Kong 1.128
PL - Polonia 1.064
GB - Regno Unito 876
TR - Turchia 693
FI - Finlandia 567
FR - Francia 437
RU - Federazione Russa 396
SE - Svezia 396
JP - Giappone 360
IN - India 314
MX - Messico 265
CA - Canada 253
AR - Argentina 218
ID - Indonesia 197
NL - Olanda 152
BD - Bangladesh 142
ZA - Sudafrica 125
IQ - Iraq 118
ES - Italia 100
BE - Belgio 91
EC - Ecuador 84
PK - Pakistan 79
CO - Colombia 73
AU - Australia 67
AT - Austria 66
LT - Lituania 56
CZ - Repubblica Ceca 54
PH - Filippine 51
MA - Marocco 50
SA - Arabia Saudita 50
VE - Venezuela 45
UZ - Uzbekistan 43
CL - Cile 34
TN - Tunisia 31
PY - Paraguay 30
AE - Emirati Arabi Uniti 27
KE - Kenya 27
MY - Malesia 26
IE - Irlanda 25
EG - Egitto 24
CH - Svizzera 22
KR - Corea 22
RO - Romania 22
JO - Giordania 21
NP - Nepal 21
DZ - Algeria 20
IR - Iran 20
LK - Sri Lanka 19
PE - Perù 17
RS - Serbia 17
UY - Uruguay 16
BO - Bolivia 15
IL - Israele 15
JM - Giamaica 15
AZ - Azerbaigian 14
NZ - Nuova Zelanda 14
DO - Repubblica Dominicana 12
EU - Europa 12
PS - Palestinian Territory 12
KZ - Kazakistan 11
CR - Costa Rica 10
ET - Etiopia 10
GR - Grecia 10
HN - Honduras 10
AL - Albania 9
BY - Bielorussia 9
OM - Oman 9
PA - Panama 9
TW - Taiwan 9
HU - Ungheria 8
QA - Qatar 8
SN - Senegal 8
TH - Thailandia 8
BB - Barbados 7
BG - Bulgaria 7
KG - Kirghizistan 7
LB - Libano 7
PT - Portogallo 7
CY - Cipro 6
DK - Danimarca 6
MK - Macedonia 6
SV - El Salvador 6
SY - Repubblica araba siriana 6
BH - Bahrain 5
EE - Estonia 5
GT - Guatemala 5
HR - Croazia 5
MD - Moldavia 5
NG - Nigeria 5
AO - Angola 4
GA - Gabon 4
LV - Lettonia 4
Totale 53.491
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Città #
Singapore 3.388
Ashburn 3.314
Fairfield 2.906
Woodbridge 2.361
Houston 1.632
San Jose 1.451
Chandler 1.434
Jacksonville 1.264
Ann Arbor 1.224
Seattle 1.105
Hong Kong 1.100
Beijing 1.067
Warsaw 1.047
Santa Clara 1.008
Wilmington 970
Cambridge 952
Ho Chi Minh City 546
Munich 530
Los Angeles 453
New York 389
Izmir 388
Dallas 372
Hanoi 354
Nanjing 341
Tokyo 336
Princeton 297
Lauterbourg 265
Ferrara 232
Boardman 224
Milan 216
San Diego 212
Council Bluffs 207
São Paulo 194
Helsinki 191
Shanghai 176
Mexico City 172
Orem 148
Turku 133
London 130
Jakarta 128
Buffalo 126
Bremen 121
Chicago 110
Shenyang 95
Tianjin 95
Da Nang 87
Falkenstein 87
Dearborn 86
Frankfurt am Main 86
Hefei 86
Montreal 84
Rome 83
Johannesburg 81
Nanchang 79
Brussels 77
Brooklyn 76
Hebei 76
Falls Church 75
Chennai 73
Denver 70
Stockholm 70
The Dalles 69
Redwood City 67
Bologna 65
Phoenix 62
Poplar 62
Changsha 61
Toronto 61
Atlanta 60
Haiphong 60
Rio de Janeiro 58
Nuremberg 57
Brescia 55
Moscow 55
Baghdad 52
San Mateo 51
Manchester 49
San Francisco 49
Boston 48
Brasília 46
Jiaxing 44
Belo Horizonte 43
Mountain View 42
Amsterdam 41
Hải Dương 41
Tashkent 40
Jinan 39
Norwalk 38
Columbus 37
Dong Ket 34
Guangzhou 34
Mumbai 34
Brno 33
Kunming 33
Sydney 33
Washington 33
Curitiba 31
Orange 30
Ankara 28
Biên Hòa 28
Totale 36.483
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Nome #
Duchenne muscular dystrophy: From diagnosis to therapy 545
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 467
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 425
Oligonucleotidi antisenso atti ad indurre lo skipping esonico e loro impiego come medicamento per il trattamento della distrofia muscolare di Duchenne (DMD) 422
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 409
Antisense Oligonucleotide-Based Therapy for Neuromuscular Disease 316
Persistent Dystrophin Protein Restoration 90 Days after a Course of Intraperitoneally Administered Naked 2′OMePS AON and ZM2 NP-AON Complexes in mdx Mice 305
Universal neonatal screening for sickle cell disease and other haemoglobinopathies in Ferrara, Italy 302
Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): Implication for prenatal diagnosis 294
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 279
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 277
A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures 273
A Family with γ-Thalassemia and High Hb A2 Levels 270
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype 268
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype 268
Macrophages: a minimally invasive tool for monitoring collagen VI myopathies 268
Paternal germline mosaicism in collagen VI related myopathies 266
Antisense-Induced Messenger Depletion Corrects a COL6A2 Dominant Mutation in Ullrich Myopathy 265
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 259
Urinary Stem Cells as Tools to Study Genetic Disease: Overview of the Literature 258
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 255
A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics 252
Characterization of a deleted Y chromosome in a male with Turner stigmata 251
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 248
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield 248
Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report 248
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 246
GENETIC, CLINICAL AND NEUROPATHOLOGICAL INSIGHTS INTO PATIENTS WITH ASCERTAINED DIAGNOSIS OF HUNTINGTON DISEASE 245
G.P.12.06 A comprehensive molecular characterisation of dystrophinopathies 245
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 243
A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy 240
Autosomal recessive myosclerosis myopathy is a collagen VI disorder 239
Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008 239
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 239
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies 238
Exon skipping-mediated dystrophin reading frame restoration for small mutations 238
Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay 236
Autosomal recessive Bethlem myopathy 233
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins 232
Antisense modulation of both exonic and intronic splicing motifs induces skipping of a DMD pseudo-exon responsible for X-linked dilated cardiomyopathy 229
Novel mutations in the SLC26A4 gene 227
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 227
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping 226
Occurrence of Del(GIB6-D13S1830) mutation in Italian non-syndromic hearing loss patients carrying a single GJB2 mutated allele 225
Attualità e nuove prospettive in tema di cardiogenetica 225
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 224
Mutation Load of Multiple Ion Channel Gene Mutations in Brugada Syndrome 224
Transthyretin RNA profiling in livers from transplanted patients affected by familial amyloidotic polyneuropathy, and identification of a dual transcription start point 223
Melanocytes--a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy 222
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 222
Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. 220
Biodistribution and Molecular Studies on Orally Administered Nanoparticle-AON Complexes Encapsulated with Alginate Aiming at Inducing Dystrophin Rescue in mdx Mice 219
International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify Dystrophin mutations by NGS technologies 219
Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders 218
Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females 217
Biomarkers in rare neuromuscular diseases 216
Prenatal genetic counseling referrals for advanced maternal age: still room for improvement. 216
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes 215
A New 3p14.2 Microdeletion in a Patient with Intellectual Disability and Language Impairment: Case Report and Review of the Literature 214
A current approach to heart failure in Duchenne muscular dystrophy 212
Attention Deficit Hyperactivity Disorder and Cognitive Function in Duchenne Muscular Dystrophy: Phenotype-Genotype Correlation 212
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials 211
Biodistribution Studies of Polymeric Nanoparticles for Drug Delivery in Mice. 210
Commercial kit-based diagnosis is not enough for prenatal testing of beta-thalassemia: pitfalls in diagnostic mutation analysis raises the need for reference laboratories 210
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 209
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective 209
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants 208
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 208
Early corticosteroid treatment in 4 duchenne muscular dystrophy patients: 14-year follow-up 207
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 207
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array 206
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 206
Transcriptional behavior of DMD gene duplications in DMD/BMD males 205
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 205
Exon Skipping Quantification by Real-Time PCR 204
Haplotype analysis of common transthyretin mutations 204
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey 203
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 203
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 202
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 200
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 200
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 200
Diagnostic Work-Up and Risk Stratification in X-Linked Dilated Cardiomyopathies Caused by Dystrophin Defects 199
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results 198
Defining the Diagnosis in Echocardiographically Suspected Senile Systemic Amyloidosis 198
Exploring the clinical and epidemiological complexity of GJB2-linked deafness 197
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 197
X-linked bulbar and spinal muscular atrophy, or Kennedy disease: Clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family 195
Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis 195
Antisense oligonucleotides capable of inducing exon skipping in dystrophin gene and their use in treatment of duchenne muscular dystrophy 194
X-linked dilated cardiomyopathy and the dystrophin gene. 193
A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 193
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 192
Atypical familial motor neuropathy in patients with mutant TTR Ile68Leu 191
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis 191
Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript 189
Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure 188
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 187
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome 187
Prevalence of congenital muscular dystrophy in Italy: a population study 186
Totale 23.690
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Categoria #
all - tutte 229.703
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 2.037
Totale 231.740
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20211.320 0 0 0 0 0 0 0 0 0 538 532 250
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
2025/202619.358 1.942 857 1.875 2.871 3.031 1.329 2.673 1.118 1.885 1.777 0 0
Totale 54.098