SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 3.737
EU - Europa 1.359
AS - Asia 730
SA - Sud America 36
AF - Africa 9
OC - Oceania 1
Totale 5.872
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Nazione #
US - Stati Uniti d'America 3.722
PL - Polonia 503
CN - Cina 315
SG - Singapore 237
DE - Germania 211
IT - Italia 178
UA - Ucraina 143
GB - Regno Unito 121
TR - Turchia 112
FI - Finlandia 49
SE - Svezia 48
BR - Brasile 33
ID - Indonesia 32
BE - Belgio 28
RU - Federazione Russa 25
CA - Canada 15
NL - Olanda 14
CZ - Repubblica Ceca 10
VN - Vietnam 10
IN - India 8
LT - Lituania 7
AT - Austria 4
ES - Italia 4
IR - Iran 4
DZ - Algeria 3
FR - Francia 3
IQ - Iraq 3
MA - Marocco 3
SI - Slovenia 3
BD - Bangladesh 2
CL - Cile 2
LV - Lettonia 2
PK - Pakistan 2
SA - Arabia Saudita 2
ZA - Sudafrica 2
AR - Argentina 1
BG - Bulgaria 1
CH - Svizzera 1
HU - Ungheria 1
JP - Giappone 1
KE - Kenya 1
MD - Moldavia 1
MK - Macedonia 1
NZ - Nuova Zelanda 1
PH - Filippine 1
RO - Romania 1
TW - Taiwan 1
Totale 5.872
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Città #
Fairfield 503
Warsaw 503
Woodbridge 395
Chandler 303
Houston 277
Ashburn 254
Ann Arbor 206
Seattle 202
Singapore 185
Santa Clara 183
Wilmington 179
Jacksonville 176
Cambridge 160
Beijing 69
Izmir 68
New York 56
Princeton 53
Bremen 52
Nanjing 48
Ferrara 47
Shanghai 47
Dearborn 44
San Diego 41
Boardman 38
Milan 35
Munich 33
Jakarta 32
Brussels 23
Shenyang 22
London 21
Los Angeles 19
Nanchang 18
Falls Church 15
Helsinki 15
Changsha 13
Rome 13
Bologna 10
Jiaxing 10
Kunming 10
Tianjin 10
Dong Ket 9
Addison 8
Brno 8
Toronto 7
Washington 7
Auburn Hills 6
Des Moines 6
Frankfurt am Main 5
Guangzhou 5
Hebei 5
Jinan 5
Mountain View 5
Orange 5
Ottawa 5
San Mateo 5
Tappahannock 5
Ningbo 4
Redwood City 4
Waanrode 4
Zhengzhou 4
Augusta 3
Clifton 3
Fermo 3
Hefei 3
Lanzhou 3
Leawood 3
Monmouth Junction 3
Norwalk 3
Phoenix 3
Taizhou 3
Trebaseleghe 3
Walnut 3
Andover 2
Argenta 2
Aversa 2
Birmingham 2
Campi Bisenzio 2
Castelnuovo Rangone 2
Changchun 2
Chengdu 2
Chicago 2
Chiswick 2
Corsico 2
Curitiba 2
Duck Lake 2
Haikou 2
Hangzhou 2
Hyderabad 2
Johannesburg 2
Lappeenranta 2
Lübeck 2
Madrid 2
Messina 2
Philadelphia 2
Quarto 2
Redmond 2
Reggio Nell'emilia 2
Riga 2
Riyadh 2
Sabz 2
Totale 4.592
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 336
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 314
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 308
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 182
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 159
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 155
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 152
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 150
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 136
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 134
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 133
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 132
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 130
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 124
Transcriptional behavior of DMD gene duplications in DMD/BMD males 121
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 120
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 119
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 119
Biomarkers in rare neuromuscular diseases. 116
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 113
null 113
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 113
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 109
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 109
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 106
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 102
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. 100
null 99
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients. 96
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 96
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 95
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 95
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 93
null 90
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 90
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 89
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 87
DMD gene molecular genetic characterization in Eastern Europe and non European countries 84
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 78
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 76
null 76
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 75
New CACNA1A deletions are associated to migraine phenotypes 75
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. 67
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 60
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 47
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 43
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 37
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 37
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 36
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. 34
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 33
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 32
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 30
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 27
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 26
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 23
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 21
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 20
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 16
Totale 5.988
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Categoria #
all - tutte 30.626
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 30.626
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020605 0 0 0 0 0 0 145 139 115 112 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
2023/2024424 32 41 33 14 33 92 8 24 13 28 2 104
2024/2025683 34 28 131 84 232 157 17 0 0 0 0 0
Totale 5.988