CNR Institutional Research Information System

MIANO, MARIA GIUSEPPINA
 Distribuzione geografica
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Continente #
AS - Asia 3.957
NA - Nord America 1.871
EU - Europa 943
SA - Sud America 599
AF - Africa 53
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 7.431
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Nazione #
US - Stati Uniti d'America 1.780
SG - Singapore 1.598
CN - Cina 976
BR - Brasile 479
HK - Hong Kong 458
IT - Italia 366
VN - Vietnam 338
FR - Francia 230
KR - Corea 187
JP - Giappone 106
NL - Olanda 105
IN - India 68
AR - Argentina 54
DE - Germania 49
GB - Regno Unito 49
BD - Bangladesh 38
CA - Canada 37
FI - Finlandia 35
IL - Israele 32
MX - Messico 32
ID - Indonesia 30
TR - Turchia 21
ZA - Sudafrica 20
PL - Polonia 16
EC - Ecuador 14
PK - Pakistan 14
CO - Colombia 11
IQ - Iraq 11
UZ - Uzbekistan 11
VE - Venezuela 11
RU - Federazione Russa 10
ES - Italia 9
AT - Austria 8
PY - Paraguay 8
SA - Arabia Saudita 8
TH - Thailandia 8
UA - Ucraina 8
CL - Cile 7
KZ - Kazakistan 7
LT - Lituania 7
MA - Marocco 7
MY - Malesia 7
PH - Filippine 7
SE - Svezia 7
UY - Uruguay 7
AU - Australia 6
EG - Egitto 6
AE - Emirati Arabi Uniti 5
EE - Estonia 5
IE - Irlanda 5
JM - Giamaica 5
TN - Tunisia 5
AZ - Azerbaigian 4
BG - Bulgaria 4
CZ - Repubblica Ceca 4
DO - Repubblica Dominicana 4
JO - Giordania 4
KE - Kenya 4
LK - Sri Lanka 4
PE - Perù 4
PT - Portogallo 4
AL - Albania 3
CH - Svizzera 3
DK - Danimarca 3
GE - Georgia 3
NP - Nepal 3
TT - Trinidad e Tobago 3
AM - Armenia 2
BB - Barbados 2
BE - Belgio 2
BO - Bolivia 2
CI - Costa d'Avorio 2
CR - Costa Rica 2
LV - Lettonia 2
MD - Moldavia 2
PA - Panama 2
PS - Palestinian Territory 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
BN - Brunei Darussalam 1
CG - Congo 1
DZ - Algeria 1
GA - Gabon 1
GF - Guiana Francese 1
GM - Gambi 1
GN - Guinea 1
GR - Grecia 1
HR - Croazia 1
HU - Ungheria 1
KG - Kirghizistan 1
LC - Santa Lucia 1
LY - Libia 1
MN - Mongolia 1
MT - Malta 1
NI - Nicaragua 1
NZ - Nuova Zelanda 1
OM - Oman 1
PR - Porto Rico 1
QA - Qatar 1
RW - Ruanda 1
Totale 7.427
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Città #
Singapore 955
Santa Clara 568
Hefei 470
Hong Kong 453
San Jose 254
Seoul 184
Lauterbourg 166
Beijing 160
Ashburn 135
Ho Chi Minh City 114
Los Angeles 95
Hanoi 89
Tokyo 72
Dallas 55
New York 54
Naples 43
Milan 36
Boardman 35
São Paulo 35
Minamishinagawa 27
Helsinki 26
Bengaluru 24
Frankfurt am Main 24
Rome 21
Buffalo 18
Da Nang 18
Toronto 15
Belo Horizonte 14
Chennai 13
Johannesburg 13
Brooklyn 12
Mexico City 12
Orem 12
Rio de Janeiro 12
Guangzhou 11
Haiphong 11
Atlanta 10
Denver 10
Guarulhos 10
Lucca 10
Phoenix 10
Florence 9
Queens 9
Tashkent 9
Warsaw 9
Buenos Aires 8
Marigliano 8
Montreal 8
Porto Alegre 8
Shanghai 8
Bari 7
Campinas 7
Dhaka 7
Houston 7
Istanbul 7
London 7
San Francisco 7
Stockholm 7
Thái Bình 7
Can Tho 6
Charlotte 6
City of London 6
Contagem 6
Curitiba 6
Lahore 6
Miami 6
Montevideo 6
New Delhi 6
San Juan 6
The Dalles 6
Thái Nguyên 6
Verona 6
Ankara 5
Asunción 5
Blumenau 5
Bologna 5
Brasília 5
Bắc Giang 5
Cairo 5
Falkenstein 5
Kuala Lumpur 5
Lappeenranta 5
Lấp Vò 5
Manaus 5
Mumbai 5
Nuremberg 5
Quito 5
Taubaté 5
Amman 4
Baghdad 4
Baku 4
Biên Hòa 4
Campos dos Goytacazes 4
Canoas 4
Council Bluffs 4
Dublin 4
Durban 4
Fortaleza 4
Hải Dương 4
Jakarta 4
Totale 4.651
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Nome #
Cellule Staminali e Epilessia 126
Identification of a novel class of small molecules for the treatment of Neurodegenerative diseases. 111
Sulfavant A: a novel modulator of microglia activity 98
Characterization of highly conserved molecular pathways involved in neurodevelopmental disorders (NDDs) 95
Siamo tutti connessi - XXXIV edizione di "FUTURO REMOTO: PIANETA - tra cambiamenti epocali e sfide globali. 92
Clinical and molecular characterization of FOXP1 variants in subjects with neurodevelopmental disorders. 87
Cell type-specific changes identified by single-cell transcriptomics in Arx mouse model of developmental and epileptic encephalopathy 86
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells 85
Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules 84
Le connessioni sinaptiche- La Notte Europea dei Ricercatori 2021 - Meet me tonight. FACCIA A FACCIA CON LA RICERCA. 84
Identification of a novel class of small molecules for the treatment of TREM2-related neurodegenerative dysfunctions 79
A novel promising therapeutic paradigm in a preclinical mouse model for developmental and epileptic encephalopathy 77
Single-cell transcriptomic analysis of neocortex in Arx mouse model of developmental and epileptic encephalopathy caused by polyalanine elongations 77
Connessioni Neuronali & Sviluppo - La Notte Europea dei Ricercatori 2020- FACCIA A FACCIA CON LA RICERCA. 76
Epilessia e autismo nei pazienti SCN2A 75
Defective corticogenesis in Arx mouse model of developmental and epileptic encephalopathy caused by polyalanine elongations 75
Conserved functions of mouse ARX and Caenorhabditis elegans alr-1 in controlling pathways damaged in neurodevelopmental disorders (NDDs) 74
Construction of a pilot YAC library in a recombinant-defective yeast strain 72
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. 71
Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome 70
X linked or autosomal rare mental retardation syndromes: phenotypic analysis in transgenic mouse models 70
Duplicazione de novo Xq13-q24 in una bambina con bassa statura e ritardo mentale. 69
Clinical expression of x-linked retinitis pigmentosa in a family with a novel splice defect in the RPGR gene. 67
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report 67
Microtubule organization and splicing switches are altered in Arx animal models for neurodevelopmental disorders 67
Mutational analysis of the RPGR Exon ORF 15 in South European patients with X-Linked Retinitis Pigmentosa. 66
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants 66
Deregulation of microtubule organization and RNA metabolism in Arx models for DEE 64
Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. 62
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy 62
A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy 61
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 60
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti 60
Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability. 56
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease 56
Malattie ereditarie del segmento anteriore dell"occhio 55
Exploitation of the Bio-MEMORY collection CNR-IBBR-CeLITABASE for the characterization of highly conserved molecular pathways involved in neurodevelopmental disorders (NDD). 55
X-linked or autosomal rare mental retardation syndromes: phenotypic analysis in transgenic mouse models. 54
Exploring the SINEUP properties as RNA therapeutic tools in ARX polyalanine models for West syndrome. 54
Is NFkappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? 53
Genotype-phenotype correlation in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. 52
Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model" 52
Analysis of the X-chromosome cancer driver gene Lysine-specific demethylase 5C (KDM5C) in Glioblastoma Multiforme (GBM) reveals novel molecular signatures 51
Systematic identification and characterization of eye-expressed transcripts: Novel candidate genes for eye diseases. 50
Increased dosage of the brain-disease gene ARX affects transcriptional activity and chromatin remodelling and may clear up Intellectual Disability (ID) found in a male patient with a Xp21.3 duplication 50
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. 50
The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme. 50
Polyalanine tract expansion in Aristaless-related homeobox (ARX) causes cognitive impairment in MRX87 family 49
Analysis of transcriptome landscapes in the epileptogenic cortex of the Arx(GCG)7/Y mouse 49
Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)" 48
Exploring transcriptional single-cell signatures in a mouse model of epilepsy caused by a polyalanine expansion mutation in Aristaless-related homeobox gene. 48
Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases 48
Isolation and characterisation of RPGR gene by positional sequencing involved in X-linked retinitis pigmentosa (RP3). 47
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms 46
Analysis of KDM5C transcription: identification of new disease routes damaged in XLID/Epilepsy diseases 45
Ridefinizione del locus MRX81 (Ritardo Mentale non sindromico associato al cromosoma X forma 81) e ricerca di un nuovo gene malattia in Xper. 44
A regulatory path associated with X-Linked Intellectual Disability and Epilepsy links the histone demethylase KDM5C to the Polyalanine expansions in the transcription factor ARX 44
Particular musical aptitude in a female patient with speech disorders: analysis of a de novo FOXP1 truncating mutation and possible role in song-learning. 44
The highly malignant phenotype of anaplastic thyroid carcinoma cell lines is recessive. 43
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. 43
A novel promising therapeutic paradigm for the treatment of drug-resistant seizures in a genetic mouse model of developmental and epileptic encephalopathy 43
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti. 42
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. 42
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms 42
Genetic analysis of two unrelated Italian families with non specific X-mental retardation 41
Strategies to correct the epigenetic path KDM5C-H3K4me3 damaged in XLID/Epilepsy diseases 41
Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders 41
Identificazione e caratterizzazione sistematica di cDNA espressi in retina: nuovi geni candidati per malattie oculari. 40
Histone methylation-demethylation defects in forms of Intellectual Disability and Refractory Epilepsy 40
Analysis of the X-chromosome cancer driver gene Lysine-specific demethylase 5C (KDM5C) in Glioblastoma Multiforme (GBM 40
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays 39
Increased dosage of the bifunctional transcription factor ARX disturbs its tuneable activity and may cause neuronal defects 39
Phytocannabinoid treatment in a mouse model of West syndrome with spontaneous seizures 38
Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappa B activation 38
Assembly of a YAC contig spanning 1.6 Mb of Xq28 DNA around the DXS304 locus 37
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations 37
From sequence analysis to diseases identification in the distal human xq28 37
Ritardo Mentale X-linked non Sindromico: Identificazione di un nuovo Locus malattia in Xp22-Xp21, una regione hot spot per disordini cognitivi. 37
Finding new connections in the transcriptional regulation of Lysine-specific demethylase 5C (KDM5C) a disease gene involved in syndromic and non-syndromic XLID. 37
Il fenotipo clinico dei maschi affetti da Incontinentia Pigmenti è causato da alterazioni del pathway di NF-kB come nelle femmine affette da IP? 37
Preservation of neurons in an AD 79 vitrified human brain 36
Trio-based exome sequencing approach to identify candidate genes for phenotypic variability of Incontinentia pigmenti 35
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region 35
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 34
Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. 34
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures 34
Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis ? 33
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. 33
ARX-dependent KDM5C defects are associated to X-linked intellectual disability and epilepsy. 33
Metodi di indagine oftalmologici e genetico-molecolare 33
Application of synthethic long non-coding RNAs to increase synthesis of Lysine (K)-specific demethylase 5C (KDM5C) in primary mouse neurons. 33
Unravelling the molecular mechanisms of impaired nemo function in IP pathogenesis 32
Nuclear factor-kappa-B-inhibitor alpha (NFKBIA) is a developmental marker of NF-kappa B/p65 activation during in vitro oocyte maturation and early embryogenesis 32
Dalla ricerca al femminile un aiuto contro una malattia genetica 32
A human/bovine comparative approach to identify transcripts related to oocyte maturation: from fertility to aging 31
Nemo: un gene per due malattie 31
Quantitative proteomic analysis of mouse brain in models of neurodevelopmental disorders caused by mutations in Aristaless-related homeobox gene 31
From Nonsyndromic X-linked Mental Retardation (MRX) diseases to discovery genes for cognitive circuitry in humans 31
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. 30
Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti" 30
Totale 5.312
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Categoria #
all - tutte 22.579
article - articoli 6.385
book - libri 264
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 679
Totale 29.907
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202490 0 0 0 0 0 0 0 0 17 3 27 43
2024/20252.697 17 13 223 111 484 135 33 110 76 129 751 615
2025/20264.662 317 469 414 739 836 211 712 219 261 332 152 0
Totale 7.449