IRIS
CECCHERINI, ISABELLA
 Distribuzione geografica
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Continente #
EU - Europa 3.009
Totale 3.009
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Nazione #
IT - Italia 3.009
Totale 3.009
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Città #
Genova 1.832
Genoa 535
Rapallo 462
Vado Ligure 157
Bordighera 23
Totale 3.009
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Nome #
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study 147
CD70 deficiency due to a novel mutation in a patient with severe chronic EBV infection presenting as a periodic fever 128
Chronic intestinal pseudo-obstruction in a child harboring a founder Hirschsprung RET mutation 115
MiR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells 112
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients 108
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization 107
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum 107
Medico-legal investigation in an explicable case of congenital central hypoventilation syndrome due to a rare variant of the PHOX2B gene 100
PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma 96
Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells 90
A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry 88
Ceftriaxone has a therapeutic role in Alexander disease 88
PHOX2B mutations and genetic predisposition to neuroblastoma 85
Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions 83
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome 81
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease 80
Targeting of PHOX2B expression allows the identification of drugs effective in counteracting neuroblastoma cell growth 80
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up 80
Causative and common PHOX2B variants define a broad phenotypic spectrum 78
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes J Neuropathol Exp Neurol 2010;69:335-45 78
The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B 76
When neonatal inflammation does not mean infection: an early-onset mevalonate kinase deficiency with interstitial lung disease 75
Clinical and genetic characterization of Italian patients affected by CINCA syndrome 74
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening 74
Proceedings of the fourth international conference on central hypoventilation 73
Safe drugs to fight mutant protein overload and alpha-1-antitrypsin deficiency 70
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome 69
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation 68
Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases 65
The osmr gene is involved in hirschsprung associated enterocolitis susceptibility through an altered downstream signaling 56
Underlying CTLA4 deficiency in a patient with juvenile idiopathic arthritis and autoimmune lymphoproliferative syndrome features successfully treated with abatacept - A case report 50
Early clonal extinction in glioblastoma progression revealed by genetic barcoding 44
Tracking glioma progression by genetic barcoding 41
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy 41
A focus on regulatory networks linking micrornas, transcription factors and target genes in neuroblastoma 33
Type I interferon activation in RAS-associated autoimmune leukoproliferative disease (RALD) 33
Erratum: Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers (Rheumatology (2020) 59 (344-60) DOI: 10.1093/rheumatology/kez270) 31
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies 30
Erratum: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia (Brain (2021) 144:5 (1422-1434) DOI: 10.1093/brain/awab041) 25
LONG-TERM OUTCOME IN CEREBRAL ARTERIA ISCHEMIC STROKE (AIS) DUE TO VARICELLA ZOSTER VIRUS (VZV) IN CHILDREN 23
Targeted ngs yields plentiful ultra-rare variants in inborn errors of immunity patients 23
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene 22
Patient's dermal fibroblasts as disease markers for visceral myopathy 22
Sirolimus Restores Erythropoiesis and Controls Immune Dysregulation in a Child With Cartilage-Hair Hypoplasia: A Case Report 21
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease 15
The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation 12
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core 12
Multidisciplinary study of sudden unexpected infant death in Liguria (Italy): A nine-year report 11
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients 10
Correction: Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from hirschsprung patients (PLoS ONE) 9
CREATION OF A STABLE TRANSGENIC LINE FOR ALEXANDER DISEASE MODELING IN ZEBRAFISH 7
Totale 3.146
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Categoria #
all - tutte 13.455
article - articoli 13.251
book - libri 0
conference - conferenze 204
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 26.910
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/2020786 0 0 0 61 62 111 145 79 94 129 81 24
2020/2021370 19 29 60 30 31 29 19 35 16 46 26 30
2021/2022474 21 17 15 34 31 51 21 94 36 75 26 53
2022/2023552 50 46 10 44 88 82 5 34 100 6 76 11
2023/2024442 30 44 7 48 36 63 31 49 26 22 25 61
2024/2025214 74 75 46 19 0 0 0 0 0 0 0 0
Totale 3.146