SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 3.434
EU - Europa 1.228
AS - Asia 419
AF - Africa 2
SA - Sud America 2
Totale 5.085
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Nazione #
US - Stati Uniti d'America 3.431
PL - Polonia 503
CN - Cina 274
DE - Germania 171
IT - Italia 158
UA - Ucraina 143
TR - Turchia 112
GB - Regno Unito 100
SE - Svezia 48
FI - Finlandia 42
BE - Belgio 20
RU - Federazione Russa 18
NL - Olanda 11
VN - Vietnam 10
IN - India 8
SG - Singapore 7
IR - Iran 4
CA - Canada 3
ES - Italia 3
FR - Francia 3
SI - Slovenia 3
BD - Bangladesh 2
DZ - Algeria 2
BG - Bulgaria 1
BR - Brasile 1
CL - Cile 1
CZ - Repubblica Ceca 1
JP - Giappone 1
MD - Moldavia 1
MK - Macedonia 1
PH - Filippine 1
RO - Romania 1
Totale 5.085
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Città #
Fairfield 503
Warsaw 503
Woodbridge 395
Chandler 303
Houston 277
Ashburn 252
Ann Arbor 206
Seattle 202
Wilmington 179
Jacksonville 176
Cambridge 160
Beijing 69
Izmir 68
New York 56
Princeton 53
Bremen 52
Nanjing 48
Ferrara 47
Dearborn 44
San Diego 41
Milan 35
Boardman 32
Shanghai 31
Shenyang 22
Nanchang 18
Brussels 15
Falls Church 15
Changsha 13
Rome 11
Helsinki 10
Jiaxing 10
Kunming 10
London 10
Tianjin 10
Dong Ket 9
Addison 8
Singapore 7
Washington 7
Auburn Hills 6
Des Moines 6
Los Angeles 6
Hebei 5
Jinan 5
Mountain View 5
Orange 5
San Mateo 5
Tappahannock 5
Bologna 4
Ningbo 4
Redwood City 4
Waanrode 4
Augusta 3
Fermo 3
Guangzhou 3
Hefei 3
Lanzhou 3
Leawood 3
Monmouth Junction 3
Norwalk 3
Phoenix 3
Taizhou 3
Trebaseleghe 3
Walnut 3
Zhengzhou 3
Andover 2
Argenta 2
Aversa 2
Castelnuovo Rangone 2
Changchun 2
Chicago 2
Chiswick 2
Haikou 2
Hangzhou 2
Hyderabad 2
Lübeck 2
Messina 2
Philadelphia 2
Quarto 2
Redmond 2
Reggio Nell'emilia 2
Sabz 2
South Shields 2
Terni 2
Toronto 2
Wandsworth 2
Acton 1
Ardabil 1
Barcelona 1
Brandizzo 1
Chengdu 1
Chisinau 1
Clearwater 1
Crevalcore 1
Dayton 1
Edinburgh 1
Ferrara di Monte Baldo 1
Groningen 1
Guarda Veneta 1
Hanoi 1
Herk-de-stad 1
Totale 4.067
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 319
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 301
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 292
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 146
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 145
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 143
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 135
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 122
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 120
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 119
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 117
null 113
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 111
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 110
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 109
Biomarkers in rare neuromuscular diseases. 106
Transcriptional behavior of DMD gene duplications in DMD/BMD males 105
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 104
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 104
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 103
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 101
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 100
null 99
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 99
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 97
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 96
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. 95
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients. 91
null 90
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 85
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 84
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 82
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 82
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 81
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 77
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 77
null 76
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 75
DMD gene molecular genetic characterization in Eastern Europe and non European countries 74
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 66
New CACNA1A deletions are associated to migraine phenotypes 65
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 60
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 58
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 56
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 43
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 32
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 24
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 23
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. 23
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 23
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 23
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 22
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 19
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 17
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 15
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 12
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 11
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 10
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 9
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 3
Totale 5.199
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Categoria #
all - tutte 20.052
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 20.052
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019422 0 0 0 0 0 0 0 0 0 0 176 246
2019/20201.333 164 52 70 184 100 158 145 139 115 112 50 44
2020/2021741 58 62 33 93 48 62 43 91 26 86 94 45
2021/2022621 22 42 42 27 29 25 63 30 34 44 54 209
2022/2023696 61 78 16 93 148 76 27 52 73 7 39 26
2023/2024318 32 41 33 14 33 92 8 24 13 28 0 0
Totale 5.199