SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 5.196
AS - Asia 2.384
EU - Europa 1.883
SA - Sud America 478
AF - Africa 46
OC - Oceania 8
Continente sconosciuto - Info sul continente non disponibili 1
Totale 9.996
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Nazione #
US - Stati Uniti d'America 5.070
SG - Singapore 1.049
CN - Cina 638
PL - Polonia 537
BR - Brasile 413
DE - Germania 332
IT - Italia 245
HK - Hong Kong 216
GB - Regno Unito 181
UA - Ucraina 164
VN - Vietnam 133
TR - Turchia 123
FI - Finlandia 91
RU - Federazione Russa 87
SE - Svezia 63
MX - Messico 56
CA - Canada 54
IN - India 52
ID - Indonesia 48
NL - Olanda 37
BE - Belgio 32
JP - Giappone 31
AR - Argentina 27
ZA - Sudafrica 22
AT - Austria 20
ES - Italia 20
BD - Bangladesh 18
LT - Lituania 15
IQ - Iraq 14
CZ - Repubblica Ceca 13
FR - Francia 12
MA - Marocco 11
PK - Pakistan 9
VE - Venezuela 9
CO - Colombia 7
EC - Ecuador 7
IL - Israele 7
AE - Emirati Arabi Uniti 6
CL - Cile 5
IR - Iran 5
JO - Giordania 5
SA - Arabia Saudita 5
UY - Uruguay 5
AU - Australia 4
CH - Svizzera 4
DZ - Algeria 4
EG - Egitto 4
IE - Irlanda 4
MK - Macedonia 4
RO - Romania 4
UZ - Uzbekistan 4
CR - Costa Rica 3
PA - Panama 3
PE - Perù 3
RS - Serbia 3
SI - Slovenia 3
TN - Tunisia 3
AZ - Azerbaigian 2
BG - Bulgaria 2
BY - Bielorussia 2
HN - Honduras 2
HU - Ungheria 2
KE - Kenya 2
LV - Lettonia 2
MY - Malesia 2
NZ - Nuova Zelanda 2
PH - Filippine 2
SY - Repubblica araba siriana 2
TJ - Tagikistan 2
TT - Trinidad e Tobago 2
BB - Barbados 1
BH - Bahrain 1
BO - Bolivia 1
CY - Cipro 1
DK - Danimarca 1
DM - Dominica 1
DO - Repubblica Dominicana 1
GD - Grenada 1
GT - Guatemala 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
KR - Corea 1
LB - Libano 1
LK - Sri Lanka 1
MD - Moldavia 1
ME - Montenegro 1
NP - Nepal 1
OM - Oman 1
PS - Palestinian Territory 1
PT - Portogallo 1
PW - Palau 1
PY - Paraguay 1
TV - Tuvalu 1
TW - Taiwan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 9.996
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Città #
Ashburn 612
Singapore 577
Fairfield 534
Warsaw 532
Woodbridge 413
Chandler 311
Houston 291
Beijing 271
Hong Kong 216
Seattle 215
Santa Clara 211
Ann Arbor 208
Wilmington 187
Jacksonville 183
Cambridge 166
Los Angeles 139
New York 113
Munich 100
Dallas 95
Izmir 69
Ferrara 58
Princeton 55
Bremen 54
Nanjing 50
Ho Chi Minh City 48
Shanghai 48
Dearborn 44
Buffalo 43
San Diego 43
Jakarta 42
Boardman 39
Milan 39
Mexico City 36
São Paulo 36
London 34
Turku 33
Tokyo 29
Chicago 27
Hanoi 27
Brooklyn 24
Brussels 24
Denver 22
Shenyang 22
Poplar 21
The Dalles 20
Helsinki 19
Nanchang 19
Rome 19
Johannesburg 18
Falls Church 17
Hefei 17
Phoenix 17
Tianjin 17
Atlanta 16
Changsha 15
Stockholm 15
Toronto 15
Falkenstein 14
Montreal 14
Nuremberg 14
Orem 14
Boston 13
Bologna 12
Chennai 12
Columbus 12
Brasília 11
Kunming 11
Moscow 11
Rio de Janeiro 11
Brno 10
Frankfurt am Main 10
Jiaxing 10
Mumbai 10
Belo Horizonte 9
Da Nang 9
Dong Ket 9
Addison 8
Curitiba 8
Querétaro 8
San Francisco 8
Vienna 8
Washington 8
Amsterdam 7
Baghdad 7
Council Bluffs 7
Santo André 7
Auburn Hills 6
Augusta 6
Charlotte 6
Des Moines 6
Guangzhou 6
Lappeenranta 6
Porto Alegre 6
San Mateo 6
Amman 5
Campo Grande 5
Fortaleza 5
Hebei 5
Jinan 5
Mountain View 5
Totale 6.935
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 423
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 384
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 380
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 242
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 238
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 224
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 222
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 210
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 206
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 205
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 200
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 195
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 195
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 185
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 184
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 184
Biomarkers in rare neuromuscular diseases 183
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 181
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 181
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 178
Transcriptional behavior of DMD gene duplications in DMD/BMD males 175
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 172
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 171
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 169
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 168
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 168
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 165
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 165
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 161
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 158
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 155
An interconnected data infrastructure to support large-scale rare disease research 147
DMD gene molecular genetic characterization in Eastern Europe and non European countries 146
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 142
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 139
Report of a novel ATP7A mutation causing distal motor neuropathy 136
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 133
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 131
Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 127
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 125
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 125
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 122
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 119
null 113
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 110
New CACNA1A deletions are associated to migraine phenotypes 109
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 106
null 99
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 97
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 95
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 94
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 94
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 94
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 92
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 92
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 91
null 90
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. 88
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 86
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 85
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 83
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 78
null 76
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 65
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure 64
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 63
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 49
Totale 10.132
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Categoria #
all - tutte 48.014
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 48.014
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021468 0 0 0 0 0 64 45 93 28 88 105 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
2025/20262.742 528 190 419 617 797 191 0 0 0 0 0 0
Totale 10.132