SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 6.099
AS - Asia 3.146
EU - Europa 2.084
SA - Sud America 578
AF - Africa 76
OC - Oceania 12
Continente sconosciuto - Info sul continente non disponibili 3
Totale 11.998
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Nazione #
US - Stati Uniti d'America 5.949
SG - Singapore 1.259
CN - Cina 705
PL - Polonia 549
BR - Brasile 454
VN - Vietnam 394
DE - Germania 344
IT - Italia 276
HK - Hong Kong 238
GB - Regno Unito 201
UA - Ucraina 170
TR - Turchia 133
FI - Finlandia 103
RU - Federazione Russa 90
JP - Giappone 88
IN - India 83
FR - Francia 71
SE - Svezia 66
CA - Canada 64
MX - Messico 61
ID - Indonesia 55
AR - Argentina 48
NL - Olanda 44
BD - Bangladesh 40
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
CR - Costa Rica 5
DZ - Algeria 5
IR - Iran 5
JO - Giordania 5
MY - Malesia 5
UY - Uruguay 5
BO - Bolivia 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
EG - Egitto 4
MD - Moldavia 4
MK - Macedonia 4
NP - Nepal 4
PE - Perù 4
RS - Serbia 4
AL - Albania 3
AZ - Azerbaigian 3
BH - Bahrain 3
HN - Honduras 3
HU - Ungheria 3
OM - Oman 3
PA - Panama 3
PY - Paraguay 3
SI - Slovenia 3
SY - Repubblica araba siriana 3
TN - Tunisia 3
XK - ???statistics.table.value.countryCode.XK??? 3
BG - Bulgaria 2
CY - Cipro 2
DK - Danimarca 2
GT - Guatemala 2
HR - Croazia 2
JM - Giamaica 2
LV - Lettonia 2
ME - Montenegro 2
NZ - Nuova Zelanda 2
PS - Palestinian Territory 2
SN - Senegal 2
TJ - Tagikistan 2
TT - Trinidad e Tobago 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
KH - Cambogia 1
KZ - Kazakistan 1
LB - Libano 1
LK - Sri Lanka 1
Totale 11.985
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Città #
Ashburn 826
Singapore 781
Warsaw 543
Fairfield 534
San Jose 419
Woodbridge 413
Chandler 311
Houston 293
Beijing 279
Hong Kong 232
Santa Clara 218
Seattle 218
Ann Arbor 208
Wilmington 187
Jacksonville 184
Cambridge 166
Los Angeles 154
Ho Chi Minh City 134
New York 131
Munich 100
Dallas 98
Hanoi 93
Tokyo 85
Izmir 69
Ferrara 58
Princeton 55
Bremen 54
Council Bluffs 52
Lauterbourg 51
Nanjing 50
Shanghai 50
Buffalo 47
Dearborn 44
Jakarta 44
San Diego 43
Milan 41
London 40
Boardman 39
São Paulo 39
Mexico City 37
Orem 36
Turku 33
Chicago 31
Helsinki 31
Brooklyn 26
Johannesburg 25
Brussels 24
Poplar 24
Denver 23
Rome 23
Shenyang 22
The Dalles 21
Frankfurt am Main 20
Montreal 20
Nanchang 19
Phoenix 19
Tianjin 19
Atlanta 18
Da Nang 18
Stockholm 18
Falls Church 17
Hefei 17
Toronto 17
Chennai 16
Bologna 15
Boston 15
Changsha 15
Falkenstein 14
Nuremberg 14
Columbus 12
Mumbai 12
Amsterdam 11
Belo Horizonte 11
Brasília 11
Kunming 11
Moscow 11
Rio de Janeiro 11
Brno 10
Hải Dương 10
Jiaxing 10
Tashkent 10
Baghdad 9
Curitiba 9
Dong Ket 9
Guangzhou 9
Washington 9
Addison 8
Ha Long 8
Haiphong 8
Lahore 8
Medellín 8
Querétaro 8
San Francisco 8
Vienna 8
Charlotte 7
Manchester 7
Nairobi 7
Porto Alegre 7
Santo André 7
Sydney 7
Totale 8.311
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 469
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 425
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 409
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 280
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 277
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 261
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 256
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 249
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 249
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 248
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 241
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
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 223
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 222
Biomarkers in rare neuromuscular diseases 216
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 210
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 210
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 209
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 207
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 206
Transcriptional behavior of DMD gene duplications in DMD/BMD males 205
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 205
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 204
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 202
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 200
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 199
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 198
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 193
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 189
An interconnected data infrastructure to support large-scale rare disease research 183
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 183
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 181
DMD gene molecular genetic characterization in Eastern Europe and non European countries 181
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 177
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 175
Report of a novel ATP7A mutation causing distal motor neuropathy 167
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 161
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 159
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 156
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 155
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 155
Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 140
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 140
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 139
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 138
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 136
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 135
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 132
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 132
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 130
New CACNA1A deletions are associated to migraine phenotypes 129
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 123
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 122
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 121
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 118
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 118
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 116
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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. 110
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 104
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 104
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Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure 96
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 91
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Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 63
Totale 12.134
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Categoria #
all - tutte 51.898
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 51.898
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021150 0 0 0 0 0 0 0 0 0 0 105 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
2025/20264.744 528 190 419 617 797 333 645 297 403 510 5 0
Totale 12.134