SFERA Archivio dei prodotti della Ricerca dell'Università di Ferrara

NERI, Marcella
 Distribuzione geografica
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Continente #
NA - Nord America 6.710
AS - Asia 3.468
EU - Europa 2.183
SA - Sud America 583
Continente sconosciuto - Info sul continente non disponibili 139
AF - Africa 76
OC - Oceania 13
Totale 13.172
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Nazione #
US - Stati Uniti d'America 6.516
SG - Singapore 1.353
CN - Cina 779
PL - Polonia 549
BR - Brasile 455
VN - Vietnam 394
IT - Italia 347
DE - Germania 344
HK - Hong Kong 305
GB - Regno Unito 202
UA - Ucraina 171
TR - Turchia 133
BD - Bangladesh 119
FI - Finlandia 103
CA - Canada 90
RU - Federazione Russa 90
JP - Giappone 89
IN - India 83
SE - Svezia 81
FR - Francia 72
MX - Messico 69
ID - Indonesia 55
AR - Argentina 48
NL - Olanda 47
BE - Belgio 37
ZA - Sudafrica 33
ES - Italia 27
IQ - Iraq 26
CO - Colombia 22
PK - Pakistan 22
AT - Austria 21
LT - Lituania 17
VE - Venezuela 17
CZ - Repubblica Ceca 14
EC - Ecuador 14
MA - Marocco 14
PH - Filippine 13
SA - Arabia Saudita 13
CL - Cile 10
UZ - Uzbekistan 10
AU - Australia 9
IL - Israele 9
RO - Romania 9
AE - Emirati Arabi Uniti 8
KE - Kenya 7
KR - Corea 7
MY - Malesia 7
CH - Svizzera 6
CR - Costa Rica 6
IE - Irlanda 6
DZ - Algeria 5
IR - Iran 5
JM - Giamaica 5
JO - Giordania 5
MD - Moldavia 5
UY - Uruguay 5
BO - Bolivia 4
BY - Bielorussia 4
DO - Repubblica Dominicana 4
EG - Egitto 4
HU - Ungheria 4
MK - Macedonia 4
NP - Nepal 4
PE - Perù 4
PS - Palestinian Territory 4
RS - Serbia 4
AL - Albania 3
AZ - Azerbaigian 3
BH - Bahrain 3
CY - Cipro 3
GT - Guatemala 3
HN - Honduras 3
OM - Oman 3
PA - Panama 3
PY - Paraguay 3
SI - Slovenia 3
SY - Repubblica araba siriana 3
TN - Tunisia 3
TT - Trinidad e Tobago 3
XK - ???statistics.table.value.countryCode.XK??? 3
BB - Barbados 2
BG - Bulgaria 2
DK - Danimarca 2
HR - Croazia 2
KH - Cambogia 2
LV - Lettonia 2
ME - Montenegro 2
NZ - Nuova Zelanda 2
PR - Porto Rico 2
SN - Senegal 2
TJ - Tagikistan 2
AI - Anguilla 1
AO - Angola 1
CD - Congo 1
DM - Dominica 1
ET - Etiopia 1
GD - Grenada 1
GR - Grecia 1
HT - Haiti 1
KG - Kirghizistan 1
Totale 13.021
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Città #
Ashburn 873
Singapore 850
Warsaw 543
Fairfield 534
San Jose 467
Woodbridge 413
Beijing 334
Santa Clara 322
Chandler 311
Hong Kong 299
Houston 297
Seattle 219
Ann Arbor 208
Wilmington 188
Jacksonville 184
Council Bluffs 170
Cambridge 166
Los Angeles 166
New York 156
Ho Chi Minh City 134
Dallas 107
Munich 100
Hanoi 93
Tokyo 85
Izmir 69
Ferrara 58
Buffalo 55
Princeton 55
Bremen 54
Lauterbourg 51
Nanjing 50
Shanghai 50
Milan 46
Mexico City 45
San Diego 45
Dearborn 44
Jakarta 44
London 40
Boardman 39
São Paulo 39
Orem 38
Rome 33
Turku 33
Chicago 32
Helsinki 31
Phoenix 31
Brooklyn 30
Toronto 29
Denver 25
Johannesburg 25
Brussels 24
Poplar 24
Atlanta 23
Montreal 23
Shenyang 22
The Dalles 21
Frankfurt am Main 20
Nanchang 19
Tianjin 19
Bologna 18
Da Nang 18
Hefei 18
Stockholm 18
Falls Church 17
Chennai 16
Boston 15
Changsha 15
Falkenstein 14
Nuremberg 14
Columbus 12
Kunming 12
Mumbai 12
Rio de Janeiro 12
Washington 12
Amsterdam 11
Belo Horizonte 11
Brasília 11
Moscow 11
San Francisco 11
Brno 10
Hải Dương 10
Jiaxing 10
Tashkent 10
Baghdad 9
Curitiba 9
Dong Ket 9
Guangzhou 9
Addison 8
Charlotte 8
Ha Long 8
Haiphong 8
Lahore 8
Medellín 8
Newark 8
Querétaro 8
Sydney 8
Vienna 8
Manchester 7
Nairobi 7
Porto Alegre 7
Totale 8.960
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Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 481
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 433
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 431
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 412
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 294
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 282
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 277
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 275
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 267
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 258
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 256
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 251
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 244
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation 231
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 228
Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia 225
Biomarkers in rare neuromuscular diseases 224
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 219
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family 218
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 214
The DMD Locus Harbours Multiple Long Non-Coding RNAs Which Orchestrate and Control Transcription of Muscle Dystrophin mRNA Isoforms 213
LAMM syndrome with Middle Ear Dysplasia associated with compound heterozygosity for FGF3 mutations. 213
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 212
Transcriptional behavior of DMD gene duplications in DMD/BMD males 211
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 211
An interconnected data infrastructure to support large-scale rare disease research 209
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 204
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human 203
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 203
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 198
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 197
A CMT2 family carrying the P7R mutation in the N- terminal region of the HSPB1 gene 196
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome 195
DMD gene molecular genetic characterization in Eastern Europe and non European countries 191
Autophagy induction in atrophic muscle cells requires ULK1 activation by TRIM32 through unanchored K63-linked polyubiquitin chains 189
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 188
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study 181
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 176
Report of a novel ATP7A mutation causing distal motor neuropathy 176
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients 173
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 169
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy 167
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 166
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 159
Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis. 157
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 152
Spastic paraplegia with thin corpus callosum: Description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity 152
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 148
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 146
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 143
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 138
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 136
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 136
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 133
New CACNA1A deletions are associated to migraine phenotypes 132
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 128
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 128
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 120
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. 119
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure 118
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 115
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 106
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Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 67
Totale 13.172
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Categoria #
all - tutte 57.281
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 57.281
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022617 0 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
2025/20265.156 528 190 419 617 797 333 645 297 403 510 296 121
2026/2027626 381 245 0 0 0 0 0 0 0 0 0 0
Totale 13.172