NERI, Marcella
 Distribuzione geografica
Continente #
NA - Nord America 3.894
EU - Europa 1.424
AS - Asia 773
SA - Sud America 118
AF - Africa 11
OC - Oceania 1
Totale 6.221
Nazione #
US - Stati Uniti d'America 3.874
PL - Polonia 503
CN - Cina 327
SG - Singapore 254
DE - Germania 227
IT - Italia 198
UA - Ucraina 148
GB - Regno Unito 124
TR - Turchia 115
BR - Brasile 113
FI - Finlandia 54
SE - Svezia 48
ID - Indonesia 36
BE - Belgio 29
RU - Federazione Russa 27
NL - Olanda 17
CA - Canada 16
CZ - Repubblica Ceca 12
VN - Vietnam 10
AT - Austria 8
IN - India 8
LT - Lituania 7
MA - Marocco 5
BD - Bangladesh 4
ES - Italia 4
IQ - Iraq 4
IR - Iran 4
PK - Pakistan 4
CL - Cile 3
DZ - Algeria 3
FR - Francia 3
RS - Serbia 3
SI - Slovenia 3
AR - Argentina 2
JP - Giappone 2
LV - Lettonia 2
RO - Romania 2
SA - Arabia Saudita 2
ZA - Sudafrica 2
BG - Bulgaria 1
CH - Svizzera 1
CR - Costa Rica 1
HU - Ungheria 1
JM - Giamaica 1
JO - Giordania 1
KE - Kenya 1
MD - Moldavia 1
MK - Macedonia 1
MX - Messico 1
NZ - Nuova Zelanda 1
PA - Panama 1
PH - Filippine 1
TW - Taiwan 1
Totale 6.221
Città #
Fairfield 534
Warsaw 503
Woodbridge 413
Chandler 311
Houston 283
Ashburn 267
Seattle 210
Ann Arbor 208
Singapore 196
Santa Clara 193
Wilmington 186
Jacksonville 182
Cambridge 166
Beijing 73
Izmir 69
New York 60
Princeton 55
Bremen 54
Ferrara 53
Nanjing 50
Shanghai 48
Dearborn 44
San Diego 43
Boardman 39
Milan 37
Jakarta 36
Munich 33
Brussels 24
London 22
Shenyang 22
Los Angeles 19
Nanchang 19
Helsinki 18
Falls Church 16
Changsha 13
Rome 13
Bologna 12
Kunming 11
Brno 10
Jiaxing 10
Tianjin 10
Dong Ket 9
Falkenstein 9
Addison 8
Toronto 8
Council Bluffs 7
São Paulo 7
Washington 7
Auburn Hills 6
Curitiba 6
Des Moines 6
San Mateo 6
Frankfurt am Main 5
Guangzhou 5
Hebei 5
Jinan 5
Mountain View 5
Nuremberg 5
Orange 5
Ottawa 5
Tappahannock 5
Zhengzhou 5
Ningbo 4
Redwood City 4
Waanrode 4
Augusta 3
Clifton 3
Fermo 3
Hefei 3
Lanzhou 3
Lappeenranta 3
Leawood 3
Monmouth Junction 3
Norwalk 3
Phoenix 3
Reggio Nell'emilia 3
Taizhou 3
Trebaseleghe 3
Walnut 3
Agadir 2
Andover 2
Argenta 2
Aversa 2
Belo Horizonte 2
Birmingham 2
Brasília 2
Campi Bisenzio 2
Castelnuovo Rangone 2
Changchun 2
Chengdu 2
Chicago 2
Chiswick 2
Corsico 2
Duck Lake 2
Franca 2
Guarulhos 2
Haikou 2
Hangzhou 2
Hounslow 2
Hyderabad 2
Totale 4.790
Nome #
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy 342
POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking 320
Transcriptional and epigenetic analyses of the DMD locus reveal novel cis-acting DNA elements that govern muscle dystrophin expression 313
Transcriptomics analysis in collagen VI myopathy: Role of circadian genes using novel fluidic card tools 183
Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy 162
Cationic PMMA nanoparticles bind and deliver antisense oligoribonucleotides allowing restoration of dystrophin expression in the mdx mouse 156
The medical genetics of dystrophinopathies: Molecular genetic diagnosis and its impact on clinical practice 155
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia 153
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 137
The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5 ' X-linked dilated cardiomyopathy 136
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies 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
Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5′ mutation hot spot of the dystrophin gene 125
Genetic counseling for women referred for advanced maternal age: a telegenetic approach 123
Transcriptional behavior of DMD gene duplications in DMD/BMD males 122
SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers. 121
A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia 119
Biomarkers in rare neuromuscular diseases. 119
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy 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 114
null 113
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains 111
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. 110
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis 110
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 105
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
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions 98
RNAseq in urine-derived stem cells identified the expression of 308 neuromuscular gene transcripts [NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.384] 97
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
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 94
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 88
Report of a novel ATP7A mutation causing distal motor neuropathy 85
DMD gene molecular genetic characterization in Eastern Europe and non European countries 85
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries 82
Calpain 3 deficiency presenting as fibre type disproportion: Scientific correspondence 77
NMD CHIP: Un Progetto Europeo per la diagnosi delle patologie neuromuscolari 76
null 76
New CACNA1A deletions are associated to migraine phenotypes 76
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 67
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 52
Sguardi sul futuro. Psicologia della comunicazione della diagnosi di Malattia di Huntington nella consulenza genetica. 44
Parkinson's disease-dementia in trans LRP10 and GBA variants: Response to deep brain stimulation 42
Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation. 40
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 40
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice 38
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 38
ncRNAs originating from the dystrophin gene as biomarker for assessing antisense therapy 34
Brody disease: Insights into biochemical features of SERCA1 and identification of a novel mutation 32
TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases 30
Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual? 28
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients 27
Pre-trial antisense screening of myogenic cells from boys with Duchenne muscular dystrophy and genomic and transcriptomic biomarkers discovery for treatment monitoring 25
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 21
Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency 21
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 19
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience 17
Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure 1
Totale 6.347
Categoria #
all - tutte 33.378
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 33.378


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020483 0 0 0 0 0 0 0 146 121 119 51 46
2020/2021771 59 66 33 97 48 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
2024/2025851 35 29 139 87 246 164 103 48 0 0 0 0
Totale 6.347