CNR Institutional Research Information System

MIANO, MARIA GIUSEPPINA
 Distribuzione geografica
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Continente #
AS - Asia 4.022
NA - Nord America 2.172
EU - Europa 1.020
SA - Sud America 608
AF - Africa 55
Continente sconosciuto - Info sul continente non disponibili 19
OC - Oceania 7
Totale 7.903
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Nazione #
US - Stati Uniti d'America 2.043
SG - Singapore 1.604
CN - Cina 979
BR - Brasile 482
HK - Hong Kong 464
IT - Italia 432
VN - Vietnam 345
FR - Francia 232
KR - Corea 187
NL - Olanda 109
JP - Giappone 107
BD - Bangladesh 78
IN - India 68
CA - Canada 57
AR - Argentina 54
DE - Germania 50
GB - Regno Unito 50
FI - Finlandia 36
IL - Israele 32
MX - Messico 32
ID - Indonesia 30
TR - Turchia 21
ZA - Sudafrica 20
EC - Ecuador 17
PL - Polonia 16
PK - Pakistan 14
CO - Colombia 12
VE - Venezuela 12
IQ - Iraq 11
UZ - Uzbekistan 11
ES - Italia 10
RU - Federazione Russa 10
JM - Giamaica 9
SA - Arabia Saudita 9
AT - Austria 8
MY - Malesia 8
PY - Paraguay 8
TH - Thailandia 8
UA - Ucraina 8
CL - Cile 7
CR - Costa Rica 7
KZ - Kazakistan 7
LT - Lituania 7
MA - Marocco 7
PH - Filippine 7
SE - Svezia 7
UY - Uruguay 7
AU - Australia 6
EG - Egitto 6
AE - Emirati Arabi Uniti 5
CZ - Repubblica Ceca 5
EE - Estonia 5
IE - Irlanda 5
TN - Tunisia 5
AZ - Azerbaigian 4
BG - Bulgaria 4
DO - Repubblica Dominicana 4
JO - Giordania 4
KE - Kenya 4
LK - Sri Lanka 4
PE - Perù 4
PT - Portogallo 4
TT - Trinidad e Tobago 4
AL - Albania 3
BO - Bolivia 3
CH - Svizzera 3
DK - Danimarca 3
GE - Georgia 3
NP - Nepal 3
AM - Armenia 2
BB - Barbados 2
BE - Belgio 2
CI - Costa d'Avorio 2
GT - Guatemala 2
LV - Lettonia 2
MD - Moldavia 2
PA - Panama 2
PR - Porto Rico 2
PS - Palestinian Territory 2
SC - Seychelles 2
SK - Slovacchia (Repubblica Slovacca) 2
SN - Senegal 2
VG - Isole Vergini Britanniche 2
BN - Brunei Darussalam 1
BS - Bahamas 1
CG - Congo 1
DZ - Algeria 1
GA - Gabon 1
GD - Grenada 1
GF - Guiana Francese 1
GM - Gambi 1
GN - Guinea 1
GR - Grecia 1
HN - Honduras 1
HR - Croazia 1
HU - Ungheria 1
KG - Kirghizistan 1
LC - Santa Lucia 1
LY - Libia 1
MN - Mongolia 1
Totale 7.875
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Città #
Singapore 958
Santa Clara 579
Hefei 470
Hong Kong 455
San Jose 282
Seoul 184
Ashburn 176
Lauterbourg 167
Beijing 161
Ho Chi Minh City 115
Los Angeles 104
Hanoi 93
Tokyo 73
Dallas 58
New York 58
Naples 47
Milan 46
Boardman 41
São Paulo 35
Helsinki 27
Minamishinagawa 27
Rome 27
Bengaluru 24
Frankfurt am Main 24
Buffalo 23
Da Nang 18
Atlanta 17
Toronto 17
Belo Horizonte 14
Brooklyn 14
Chennai 13
Johannesburg 13
Rio de Janeiro 13
Denver 12
Houston 12
Mexico City 12
Orem 12
Guangzhou 11
Haiphong 11
Lucca 11
Montreal 11
Queens 11
Florence 10
Guarulhos 10
Phoenix 10
San Francisco 10
Tashkent 9
Warsaw 9
Bologna 8
Buenos Aires 8
Marigliano 8
Porto Alegre 8
Shanghai 8
Bari 7
Belleville 7
Campinas 7
Dhaka 7
Istanbul 7
London 7
Miami 7
San Juan 7
Stockholm 7
Thái Bình 7
Can Tho 6
Charlotte 6
Chicago 6
City of London 6
Contagem 6
Curitiba 6
Lahore 6
Montevideo 6
New Delhi 6
Orlando 6
Quito 6
The Dalles 6
Thái Nguyên 6
Verona 6
Ankara 5
Asunción 5
Blumenau 5
Brasília 5
Bắc Giang 5
Cairo 5
Falkenstein 5
Figino 5
Kuala Lumpur 5
Lappeenranta 5
Lấp Vò 5
Manaus 5
Mumbai 5
Nuremberg 5
Padua 5
San José 5
Taubaté 5
Virginia Beach 5
Amman 4
Baghdad 4
Baku 4
Biên Hòa 4
Campos dos Goytacazes 4
Totale 4.838
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Nome #
Cellule Staminali e Epilessia 150
Identification of a novel class of small molecules for the treatment of Neurodegenerative diseases. 113
Sulfavant A: a novel modulator of microglia activity 104
Characterization of highly conserved molecular pathways involved in neurodevelopmental disorders (NDDs) 97
Siamo tutti connessi - XXXIV edizione di "FUTURO REMOTO: PIANETA - tra cambiamenti epocali e sfide globali. 96
Clinical and molecular characterization of FOXP1 variants in subjects with neurodevelopmental disorders. 92
Cell type-specific changes identified by single-cell transcriptomics in Arx mouse model of developmental and epileptic encephalopathy 87
A reliable strategy for single-cell RNA sequencing analysis using cryoconserved primary cortical cells 86
X-linked or autosomal rare mental retardation syndromes: phenotypic analysis in transgenic mouse models. 86
Dissecting the Aristaless-related Homeobox Epilepsy path to find druggable target molecules 85
Identification of a novel class of small molecules for the treatment of TREM2-related neurodegenerative dysfunctions 85
Le connessioni sinaptiche- La Notte Europea dei Ricercatori 2021 - Meet me tonight. FACCIA A FACCIA CON LA RICERCA. 84
Single-cell transcriptomic analysis of neocortex in Arx mouse model of developmental and epileptic encephalopathy caused by polyalanine elongations 81
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants 81
Connessioni Neuronali & Sviluppo - La Notte Europea dei Ricercatori 2020- FACCIA A FACCIA CON LA RICERCA. 80
Defective corticogenesis in Arx mouse model of developmental and epileptic encephalopathy caused by polyalanine elongations 79
A novel promising therapeutic paradigm in a preclinical mouse model for developmental and epileptic encephalopathy 78
Epilessia e autismo nei pazienti SCN2A 77
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. 77
Conserved functions of mouse ARX and Caenorhabditis elegans alr-1 in controlling pathways damaged in neurodevelopmental disorders (NDDs) 76
Construction of a pilot YAC library in a recombinant-defective yeast strain 74
Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report 73
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity. 72
X linked or autosomal rare mental retardation syndromes: phenotypic analysis in transgenic mouse models 72
Duplicazione de novo Xq13-q24 in una bambina con bassa statura e ritardo mentale. 71
Analysis of cortical gene expression variability in a mouse model of X-linked Infantile spsms syndrome 71
Microtubule organization and splicing switches are altered in Arx animal models for neurodevelopmental disorders 70
Clinical expression of x-linked retinitis pigmentosa in a family with a novel splice defect in the RPGR gene. 68
A novel splicing SCN2A mutation in an adolescent with low functioning autism, acute dystonic movement disorder and late-onset generalized epilepsy 68
Mutational analysis of the RPGR Exon ORF 15 in South European patients with X-Linked Retinitis Pigmentosa. 67
Deregulation of microtubule organization and RNA metabolism in Arx models for DEE 67
Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy 64
Is NFkappa-B inhibitor alpha (IkBa) involved into oocyte-to-embryo transition? 63
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. 61
Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti 61
Exploitation of the Bio-MEMORY collection CNR-IBBR-CeLITABASE for the characterization of highly conserved molecular pathways involved in neurodevelopmental disorders (NDD). 59
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease 57
Exploring the SINEUP properties as RNA therapeutic tools in ARX polyalanine models for West syndrome. 57
Evidences for an evolutionary conserved druggable pathway damaged in models for ARX polyalanine expansions linked to Refractory Epilepsy and Intellectual Disability. 56
Particular musical aptitude in a female patient with speech disorders: analysis of a de novo FOXP1 truncating mutation and possible role in song-learning. 56
Neurodevelopmental disorders linked to Aristaless homeobox gene: A "fault disease model" 56
Malattie ereditarie del segmento anteriore dell"occhio 55
Analysis of the X-chromosome cancer driver gene Lysine-specific demethylase 5C (KDM5C) in Glioblastoma Multiforme (GBM) reveals novel molecular signatures 55
The Chromatin-Oxygen Sensor Gene KDM5C Associates with Novel Hypoxia-Related Signatures in Glioblastoma Multiforme. 55
Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. 53
Isolation and characterisation of RPGR gene by positional sequencing involved in X-linked retinitis pigmentosa (RP3). 52
Genotype-phenotype correlation in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kB activation. 52
Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases 52
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 52
Analysis of transcriptome landscapes in the epileptogenic cortex of the Arx(GCG)7/Y mouse 51
Detection of a New Unbalanced Rearrangement leading to a partial Monosomy Xq and a partial 18q Trisomy associated with Diminished Ovarian Reserve (DOR)" 50
Systematic identification and characterization of eye-expressed transcripts: Novel candidate genes for eye diseases. 50
Polyalanine tract expansion in Aristaless-related homeobox (ARX) causes cognitive impairment in MRX87 family 49
Exploring transcriptional single-cell signatures in a mouse model of epilepsy caused by a polyalanine expansion mutation in Aristaless-related homeobox gene. 49
The highly malignant phenotype of anaplastic thyroid carcinoma cell lines is recessive. 46
Analysis of KDM5C transcription: identification of new disease routes damaged in XLID/Epilepsy diseases 46
DNA Hypermethylation and Unstable Repeat Diseases: A Paradigm of Transcriptional Silencing to Decipher the Basis of Pathogenic Mechanisms 46
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. 46
Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms 46
Strategies to correct the epigenetic path KDM5C-H3K4me3 damaged in XLID/Epilepsy diseases 45
The histone demethylase KDM5C gene is a direct target of the ARX homeobox transcription factor. 45
A novel promising therapeutic paradigm for the treatment of drug-resistant seizures in a genetic mouse model of developmental and epileptic encephalopathy 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
Whole exome sequencing approach to reveal the genetic aspects of extreme phenotypic variability of Incontinentia Pigmenti. 43
Analysis of the X-chromosome cancer driver gene Lysine-specific demethylase 5C (KDM5C) in Glioblastoma Multiforme (GBM 43
Evolutionary conserved ARX-regulatory pathway in mammals and nematode to find a convergent druggable pathway damaged in neurodevelopmental disorders 43
Histone methylation-demethylation defects in forms of Intellectual Disability and Refractory Epilepsy 42
Il fenotipo clinico dei maschi affetti da Incontinentia Pigmenti è causato da alterazioni del pathway di NF-kB come nelle femmine affette da IP? 42
Genetic analysis of two unrelated Italian families with non specific X-mental retardation 41
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 41
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region 41
Identificazione e caratterizzazione sistematica di cDNA espressi in retina: nuovi geni candidati per malattie oculari. 40
A missense mutation in the ARX gene in a family with X-linked non-syndromic mental retardation: Genotype-phenotype correlation incl. functional assays 40
Increased dosage of the bifunctional transcription factor ARX disturbs its tuneable activity and may cause neuronal defects 40
ARX-dependent KDM5C defects are associated to X-linked intellectual disability and epilepsy. 39
From sequence analysis to diseases identification in the distal human xq28 39
Ritardo Mentale X-linked non Sindromico: Identificazione di un nuovo Locus malattia in Xp22-Xp21, una regione hot spot per disordini cognitivi. 39
Finding new connections in the transcriptional regulation of Lysine-specific demethylase 5C (KDM5C) a disease gene involved in syndromic and non-syndromic XLID. 39
Gene Conversion at the Xq28 and novel non-recurrent deletions involving IKBKG/ NEMO and G6PD denote genomic instability causing incontinentia pigmenti. 38
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations 38
Phytocannabinoid treatment in a mouse model of West syndrome with spontaneous seizures 38
Assembly of a YAC contig spanning 1.6 Mb of Xq28 DNA around the DXS304 locus 37
Trio-based exome sequencing approach to identify candidate genes for phenotypic variability of Incontinentia pigmenti 37
A rare deletion of IKBKG promoter B in incontinentia pigmenti patient reveals the role of IKBKG promoter A during embryonic development. 37
Preservation of neurons in an AD 79 vitrified human brain 37
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. 36
Aristaless brain diseases: A class of pathologies associated with an altered GABAergic homeostasis ? 35
A human/bovine comparative approach to identify transcripts related to oocyte maturation: from fertility to aging 34
Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures 34
Dalla ricerca al femminile un aiuto contro una malattia genetica 34
Transcript level of NF-kappa-B inhibitor alpha (IkBa) is regulated during mammalian meiosis. 33
Alteration of the KBKG locus and diseases: un update of IP and EDA-ID IKBKG mutations. 33
Metodi di indagine oftalmologici e genetico-molecolare 33
Nemo: un gene per due malattie 33
La malattia rara: dalla Genetica all'inclusione sociale 33
Application of synthethic long non-coding RNAs to increase synthesis of Lysine (K)-specific demethylase 5C (KDM5C) in primary mouse neurons. 33
From Nonsyndromic X-linked Mental Retardation (MRX) diseases to discovery genes for cognitive circuitry in humans 33
Fork Stalling and Template Switching (FoSTeS) mechanism generates a novel rearrangement associated with Incontinentia Pigmenti" 32
Unravelling the molecular mechanisms of impaired nemo function in IP pathogenesis 32
Totale 5.627
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Categoria #
all - tutte 25.773
article - articoli 7.301
book - libri 299
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 766
Totale 34.139
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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
2024/20252.705 17 13 224 112 485 135 33 110 76 129 753 618
2025/20264.838 317 469 415 740 837 211 714 221 264 334 161 155
2026/2027270 270 0 0 0 0 0 0 0 0 0 0 0
Totale 7.903