SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 6.330
AS - Asia 3.249
EU - Europa 2.144
SA - Sud America 578
AF - Africa 76
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 3
Totale 12.392
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Nazione #
US - Stati Uniti d'America 6.167
SG - Singapore 1.270
CN - Cina 722
PL - Polonia 549
BR - Brasile 454
VN - Vietnam 394
DE - Germania 344
IT - Italia 331
HK - Hong Kong 240
GB - Regno Unito 202
UA - Ucraina 170
TR - Turchia 133
BD - Bangladesh 109
FI - Finlandia 103
RU - Federazione Russa 90
JP - Giappone 89
IN - India 83
CA - Canada 75
FR - Francia 71
SE - Svezia 66
MX - Messico 61
ID - Indonesia 55
AR - Argentina 48
NL - Olanda 47
BE - Belgio 33
ZA - Sudafrica 33
ES - Italia 26
IQ - Iraq 26
PK - Pakistan 22
AT - Austria 21
CO - Colombia 21
LT - Lituania 17
VE - Venezuela 16
CZ - Repubblica Ceca 14
EC - Ecuador 14
MA - Marocco 14
SA - Arabia Saudita 13
PH - Filippine 12
UZ - Uzbekistan 10
IL - Israele 9
RO - Romania 9
AE - Emirati Arabi Uniti 8
AU - Australia 8
CL - Cile 8
KE - Kenya 7
KR - Corea 7
CH - Svizzera 6
IE - Irlanda 6
MY - Malesia 6
CR - Costa Rica 5
DZ - Algeria 5
IR - Iran 5
JO - Giordania 5
MD - Moldavia 5
UY - Uruguay 5
BO - Bolivia 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
EG - Egitto 4
MK - Macedonia 4
NP - Nepal 4
PE - Perù 4
RS - Serbia 4
AL - Albania 3
AZ - Azerbaigian 3
BH - Bahrain 3
CY - Cipro 3
HN - Honduras 3
HU - Ungheria 3
JM - Giamaica 3
OM - Oman 3
PA - Panama 3
PY - Paraguay 3
SI - Slovenia 3
SY - Repubblica araba siriana 3
TN - Tunisia 3
TT - Trinidad e Tobago 3
XK - ???statistics.table.value.countryCode.XK??? 3
BG - Bulgaria 2
DK - Danimarca 2
GT - Guatemala 2
HR - Croazia 2
KH - Cambogia 2
LV - Lettonia 2
ME - Montenegro 2
NZ - Nuova Zelanda 2
PS - Palestinian Territory 2
SN - Senegal 2
TJ - Tagikistan 2
AO - Angola 1
BB - Barbados 1
CD - Congo 1
DM - Dominica 1
ET - Etiopia 1
GD - Grenada 1
GR - Grecia 1
KG - Kirghizistan 1
KZ - Kazakistan 1
LB - Libano 1
LK - Sri Lanka 1
Totale 12.379
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Città #
Ashburn 859
Singapore 782
Warsaw 543
Fairfield 534
San Jose 452
Woodbridge 413
Chandler 311
Houston 296
Beijing 279
Hong Kong 234
Santa Clara 224
Seattle 219
Ann Arbor 208
Wilmington 187
Jacksonville 184
Cambridge 166
Los Angeles 162
New York 153
Ho Chi Minh City 134
Dallas 104
Munich 100
Hanoi 93
Tokyo 85
Izmir 69
Ferrara 58
Princeton 55
Bremen 54
Buffalo 54
Council Bluffs 52
Lauterbourg 51
Nanjing 50
Shanghai 50
Milan 45
Dearborn 44
Jakarta 44
San Diego 43
London 40
Boardman 39
São Paulo 39
Orem 38
Mexico City 37
Turku 33
Chicago 32
Helsinki 31
Brooklyn 30
Rome 28
Johannesburg 25
Brussels 24
Denver 24
Poplar 24
Montreal 23
Shenyang 22
Atlanta 21
The Dalles 21
Frankfurt am Main 20
Nanchang 19
Phoenix 19
Tianjin 19
Toronto 19
Bologna 18
Da Nang 18
Hefei 18
Stockholm 18
Falls Church 17
Chennai 16
Boston 15
Changsha 15
Falkenstein 14
Nuremberg 14
Columbus 12
Kunming 12
Mumbai 12
Amsterdam 11
Belo Horizonte 11
Brasília 11
Moscow 11
Rio de Janeiro 11
Brno 10
Hải Dương 10
Jiaxing 10
San Francisco 10
Tashkent 10
Washington 10
Baghdad 9
Curitiba 9
Dong Ket 9
Guangzhou 9
Addison 8
Ha Long 8
Haiphong 8
Lahore 8
Medellín 8
Querétaro 8
Vienna 8
Charlotte 7
Manchester 7
Nairobi 7
Porto Alegre 7
Santo André 7
Sydney 7
Totale 8.466
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 475
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
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 284
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 281
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 270
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 265
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 264
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 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
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 245
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 234
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 226
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 224
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 222
Biomarkers in rare neuromuscular diseases 221
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 214
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 211
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 209
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 208
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 208
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
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 206
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 203
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
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 195
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
An interconnected data infrastructure to support large-scale rare disease research 191
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 187
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 186
DMD gene molecular genetic characterization in Eastern Europe and non European countries 185
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 181
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 175
Report of a novel ATP7A mutation causing distal motor neuropathy 169
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 168
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 165
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 162
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 162
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 160
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 156
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 152
Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 144
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 143
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 142
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 140
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 135
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 134
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 133
New CACNA1A deletions are associated to migraine phenotypes 130
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 130
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 126
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 124
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 124
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 121
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 117
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure 113
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Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. 113
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 106
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 100
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Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 65
Totale 12.528
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Categoria #
all - tutte 54.492
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 54.492
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/202145 0 0 0 0 0 0 0 0 0 0 0 45
2021/2022640 23 44 42 27 31 26 63 31 35 46 55 217
2022/2023717 63 82 16 96 151 78 29 54 76 7 39 26
2023/2024458 33 42 34 14 35 96 8 24 26 30 2 114
2024/20251.894 35 29 139 87 246 164 103 89 342 195 250 215
2025/20265.138 528 190 419 617 797 333 645 297 403 510 296 103
Totale 12.528