SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 478
EU - Europa 272
AS - Asia 70
AF - Africa 9
OC - Oceania 6
SA - Sud America 3
Totale 838
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Nazione #
US - Stati Uniti d'America 471
IT - Italia 73
FR - Francia 55
DE - Germania 44
CN - Cina 41
FI - Finlandia 29
GB - Regno Unito 16
RU - Federazione Russa 14
SE - Svezia 12
VN - Vietnam 11
ZA - Sudafrica 9
IN - India 8
CA - Canada 7
NL - Olanda 7
PL - Polonia 6
AU - Australia 5
DK - Danimarca 4
AE - Emirati Arabi Uniti 3
CH - Svizzera 3
CZ - Repubblica Ceca 3
JP - Giappone 3
CL - Cile 2
ES - Italia 2
LK - Sri Lanka 2
BE - Belgio 1
BR - Brasile 1
HU - Ungheria 1
NZ - Nuova Zelanda 1
PT - Portogallo 1
RS - Serbia 1
TR - Turchia 1
TW - Taiwan 1
Totale 838
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Città #
Fairfield 50
Santa Cruz 46
Buffalo 34
Ashburn 32
Ferrara 30
Lappeenranta 28
Seattle 28
Houston 24
Woodbridge 20
Cambridge 15
Chicago 13
Des Moines 12
Shanghai 12
Stockholm 12
Wilmington 12
Albignasego 11
Dong Ket 11
Fuzhou 10
Columbus 9
Bremen 8
Los Angeles 7
San Diego 7
Bologna 6
Muizenberg 6
Warsaw 6
Wuhan 6
Ann Arbor 5
Boardman 5
London 5
Paris 5
Beijing 4
Dallas 4
Lincoln 4
Melbourne 4
Solagna 4
Unterschleissheim 4
Bengaluru 3
Brooklyn 3
Cedar Knolls 3
Clearwater 3
Las Vegas 3
Milan 3
Phoenix 3
San Francisco 3
Tokyo 3
Auburn 2
Basel 2
Brookline 2
Calgary 2
Cape Town 2
Carol Stream 2
Dehiwala 2
Delhi 2
Easton 2
Frankfurt am Main 2
Guangzhou 2
Harrisburg 2
Henderson 2
Leawood 2
Leiden 2
Montréal 2
New Albany 2
New Orleans 2
New York 2
Odense 2
Ottawa 2
Saint Petersburg 2
San Jose 2
The Hague 2
Trebaseleghe 2
Atlanta 1
Austin 1
Bad Vilbel 1
Barcelona 1
Baziege 1
Boulder 1
Bridge 1
Brussels 1
Cagliari 1
Copenhagen 1
Costa Mesa 1
Dayton 1
Dehradun 1
Denver 1
Dorchester 1
Edison 1
Evanston 1
Fairborn 1
Geneve 1
Gioiosa Marea 1
Hangzhou 1
Harpenden 1
Helsinki 1
Herndon 1
Istanbul 1
Jersey City 1
Lake Forest 1
Leonberg 1
Lexington 1
Miami 1
Totale 606
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Nome #
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression, file e309ade1-7717-3969-e053-3a05fe0a2c94 171
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking, file e309ade0-a582-3969-e053-3a05fe0a2c94 165
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy, file e309ade0-d00c-3969-e053-3a05fe0a2c94 124
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries, file e309ade3-3b50-3969-e053-3a05fe0a2c94 58
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains, file e309ade2-3e11-3969-e053-3a05fe0a2c94 48
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family, file e309ade2-1ad6-3969-e053-3a05fe0a2c94 43
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice, file e309ade0-b077-3969-e053-3a05fe0a2c94 37
Solving unsolved rare neurological diseases—a Solve-RD viewpoint, file e309ade4-dee0-3969-e053-3a05fe0a2c94 27
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data, file e309ade4-e7f2-3969-e053-3a05fe0a2c94 23
Biomarkers in rare neuromuscular diseases., file e309ade0-496c-3969-e053-3a05fe0a2c94 19
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice, file e309ade0-41ab-3969-e053-3a05fe0a2c94 15
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases, file e309ade4-f9a4-3969-e053-3a05fe0a2c94 12
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome, file e309ade5-24a0-3969-e053-3a05fe0a2c94 12
New CACNA1A deletions are associated to migraine phenotypes, file e309ade5-34f4-3969-e053-3a05fe0a2c94 11
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, file e309ade0-33fe-3969-e053-3a05fe0a2c94 10
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms, file e309ade0-4c73-3969-e053-3a05fe0a2c94 10
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study, file e309ade2-c0a5-3969-e053-3a05fe0a2c94 10
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies, file e309ade0-29cf-3969-e053-3a05fe0a2c94 7
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy, file e309ade0-34b8-3969-e053-3a05fe0a2c94 7
DMD gene molecular genetic characterization in Eastern Europe and non European countries, file e309ade2-61c0-3969-e053-3a05fe0a2c94 7
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers., file e309ade0-4577-3969-e053-3a05fe0a2c94 6
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse, file 9df483b3-a9b9-4ae5-9b5e-66bcf6a55275 5
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384], file e309ade1-fbb5-3969-e053-3a05fe0a2c94 5
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation, file e309ade0-41aa-3969-e053-3a05fe0a2c94 4
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation, file e309ade2-bdde-3969-e053-3a05fe0a2c94 4
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations., file e309ade0-36f2-3969-e053-3a05fe0a2c94 3
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia, file e309ade1-6d4b-3969-e053-3a05fe0a2c94 3
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome, file e309ade2-bd98-3969-e053-3a05fe0a2c94 3
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases, file 18716a30-2358-4048-995b-c3b1f0087cd3 2
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients., file e309ade0-4963-3969-e053-3a05fe0a2c94 2
null, file e309ade0-ac1e-3969-e053-3a05fe0a2c94 2
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy, file e309ade3-1e2a-3969-e053-3a05fe0a2c94 2
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?, file 6141e38b-9183-4ff3-9db6-c8312df36185 1
Transcriptional behavior of DMD gene duplications in DMD/BMD males, file e309ade0-29cd-3969-e053-3a05fe0a2c94 1
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy, file e309ade0-3ba5-3969-e053-3a05fe0a2c94 1
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools, file e309ade0-f00f-3969-e053-3a05fe0a2c94 1
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice, file e309ade2-c4ee-3969-e053-3a05fe0a2c94 1
Totale 862
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Categoria #
all - tutte 3.535
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 3.535
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/201927 0 0 0 0 0 0 0 0 0 0 18 9
2019/2020121 10 12 13 19 7 10 15 6 10 8 4 7
2020/2021115 5 8 3 9 6 6 5 7 17 12 16 21
2021/2022141 2 10 8 9 16 12 6 8 5 4 43 18
2022/2023243 7 21 43 35 38 31 14 25 5 8 15 1
2023/2024134 0 4 4 0 6 26 3 20 16 47 8 0
Totale 862